[ { "uniprot_canonical_ac": "Q06710-1", "uniprot_id": [ { "id": "PAX8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06710", "type": "external" } ], "mass": 48218.0, "length": 450, "protein_name": "Paired box protein Pax-8", "gene_name": "PAX8", "organism": "Human", "refseq_name": "paired box protein Pax-8 isoform PAX8A", "refseq_ac": [ { "id": "NP_003457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003457", "type": "external" } ], "gene_names_uniprotkb": "PAX8", "gene_names_refseq": "PAX-8; PAX8", "protein_names_uniprotkb": "Paired box protein Pax-8", "protein_names_refseq": "paired box protein Pax-8 isoform PAX8A; paired box protein Pax-8; paired domain gene 8", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); congenital nongoitrous hypothyroidism 2 (Disease Ontology:DOID:0070124)", "pathway": " (hsa:7849); (R-HSA-9761174); (R-HSA-9830364)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "11232006;11237011;11502839;1337742;18829450;19010321;24357672;24715725;29242379;29557506;32502341;32938616;33214551;34019948;35051231;38677751;38853202;38993572;7737192;8413205;9590296", "class_list": "", "function": "Diagnostic Value of Immunostaining for Thyroid Transcription Factor 1 (TTF1) and Paired Box 8 (PAX8) in Distinguishing Pulmonary Metastases of Mesonephric and Mesonephric-like Adenocarcinomas from Primary Lung Adenocarcinomas., [RefSeq, PubMed]; METTL3 regulates thyroid cancer differentiation and chemosensitivity by modulating PAX8. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting PAX8 sensitizes ovarian cancer cells to ferroptosis by inhibiting glutathione synthesis., [RefSeq, PubMed]; This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]., [RefSeq]; Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells., [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": 14, "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": "Q09155;Q16337;Q16338;Q16339;Q4ZG35;Q96J49", "ec_number_list": [], "go_molecular_function": "GO:0004996 thyroid-stimulating hormone receptor activity;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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0030878 thyroid gland development;GO:2000612 regulation of thyroid-stimulating hormone secretion;GO:0072307 regulation of metanephric nephron tubule epithelial cell differentiation;GO:0039003 pronephric field specification;GO:0072207 metanephric epithelium development", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q06710-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AB6-1", "uniprot_id": [ { "id": "NTAN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AB6", "type": "external" } ], "mass": 34677.0, "length": 310, "protein_name": "Protein N-terminal asparagine amidohydrolase", "gene_name": "NTAN1", "organism": "Human", "refseq_name": "protein N-terminal asparagine amidohydrolase isoform 2", "refseq_ac": [ { "id": "NP_001257695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257695", "type": "external" } ], "gene_names_uniprotkb": "NTAN1", "gene_names_refseq": "NTAN1; PNAA; PNAD", "protein_names_uniprotkb": "Protein N-terminal asparagine amidohydrolase; 3.5.1.121; PNAA; PNAD; Protein N-terminal Asn amidase; Protein N-terminal asparagine amidase; Protein NH2-terminal asparagine amidohydrolase; Protein NH2-terminal asparagine deamidase; Protein NTN-amidase", "protein_names_refseq": "protein N-terminal Asn amidase; protein N-terminal asparagine amidase; protein N-terminal asparagine amidohydrolase isoform 2; protein N-terminal asparagine amidohydrolase; protein NH2-terminal asparagine deamidase; protein NTN-amidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:123803)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;18496130;21375249;25418920;31844290;32157095;32350084;33912179;35580925", "class_list": "", "function": "N-terminal asparagine deamidase that mediates deamidation of N-terminal asparagine residues to aspartate. Required for the ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by acylaminoacid hydrolase (AAH). Conversion of the resulting N-terminal asparagine to aspartate by NTAN1/PNAD renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. This enzyme does not act on substrates with internal or C-terminal asparagines and does not act on glutamine residues in any position, nor on acetylated N-terminal peptidyl Asn., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results indicate that hNTAN1 is highly selective for the hydrolysis of N-terminal peptidyl L-Asn., [RefSeq, PubMed]; The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asn residues on proteins to produce N-terminal L-Asp. L-Asp substrates are subsequently conjugated to L-Arg, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Pseudogenes of this gene are located on the long arms of chromosomes 8, 10 and 12. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z4Z0", "ec_number_list": [ { "id": "3.5.1.121", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.121", "type": "external" } ], "go_molecular_function": "GO:0008418 protein-N-terminal asparagine amidohydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96AB6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21452-1", "uniprot_id": [ { "id": "NK2R_HUMAN", "url": "https://www.uniprot.org/uniprot/P21452", "type": "external" } ], "mass": 44442.0, "length": 398, "protein_name": "Substance-K receptor", "gene_name": "TACR2", "organism": "Human", "refseq_name": "substance-K receptor", "refseq_ac": [ { "id": "NP_001048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001048", "type": "external" } ], "gene_names_uniprotkb": "TACR2; NK2R; NKNAR; TAC2R", "gene_names_refseq": "NK2R; NKNAR; SKR; TAC2R; TACR2", "protein_names_uniprotkb": "Substance-K receptor; NK-2 receptor; NK-2R; Neurokinin A receptor; SKR; Tachykinin receptor 2", "protein_names_refseq": "NK-2 receptor; NK-2R; neurokinin 2 receptor; neurokinin A receptor; neurokinin B receptor; seven transmembrane helix receptor; substance-K receptor", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); asthma (Disease Ontology:DOID:2841); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:6865); (R-HSA-380095); (R-HSA-416476)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "10191087;10567430;10727532;10861009;10866201;11015615;11237011;11742120;11753430;12120503;1374246;15951850;16182515;16268778;16339447;1659296;1659297;16754659;16923326;1710456;1718267;17561251;18434541;1848773;18515384;18577758;18936096;1905813;2173708;2841328;29557506;3086311;32600668;35561088;35882833;3770210;37944618;37968728;7937899;7957923;8664309;9305846;9770463", "class_list": "", "function": "Deciphering specificity and cross-reactivity in tachykinin NK1 and NK2 receptors., [RefSeq, PubMed]; Hemokinin-1 and substance P stimulate production of inflammatory cytokines and chemokines in human colonic mucosa via both NK1 and NK2 tachykinin receptors., [RefSeq, PubMed]; IFN-alpha/beta-mediated NK2R expression is related to the malignancy of colon cancer cells., [RefSeq, PubMed]; This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neuropeptide substance K, also referred to as neurokinin A. [provided by RefSeq, Jul 2008]., [RefSeq]; This is a receptor for the tachykinin neuropeptide substance K (neurokinin A) (PubMed:1659297, PubMed:1848773). Is also able to bind and respond to tachynins substance P and neurokinin B/neuromedin-K (By similarity). The rank order of affinity of this receptor to tachykinins is: substance K > neuromedin-K > substance P (By similarity). Substance K binding to its receptor triggers G protein-coupled receptor signaling via activation of G(q) and phosphatidylinositol hydrolysis by phospholipase C (PubMed:7957923, PubMed:35882833). Substance K binding also triggers signaling via activation of adenylate cyclase activity which results in increased intracellular levels of cyclic AMP (cAMP) (By similarity)., [UniProtKB, PubMed, PubMed, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 12, "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": "A8K7I1;Q4QRI5;Q8NGQ8;Q9UDE6;Q9UDE7", "ec_number_list": [], "go_molecular_function": "GO:0004995 tachykinin receptor activity;GO:0016497 substance K receptor activity", "go_cellular_component": "GO:0061827 sperm head;GO:0005886 plasma membrane;GO:0036126 sperm flagellum;GO:0097225 sperm midpiece", "go_biological_process": "GO:0035106 operant conditioning;GO:0006936 muscle contraction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0043270 positive regulation of monoatomic ion transport;GO:0045987 positive regulation of smooth muscle contraction", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P21452-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXE4-1", "uniprot_id": [ { "id": "NSMA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXE4", "type": "external" } ], "mass": 97810.0, "length": 866, "protein_name": "Sphingomyelin phosphodiesterase 4", "gene_name": "SMPD4", "organism": "Human", "refseq_name": "sphingomyelin phosphodiesterase 4 isoform 3", "refseq_ac": [ { "id": "NP_001164554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164554", "type": "external" } ], "gene_names_uniprotkb": "SMPD4; KIAA1418; SKNY", "gene_names_refseq": "NEDMABA; NEDMEBA; NET13; NSMASE-3; NSMASE3; SKNY; SMPD4", "protein_names_uniprotkb": "Sphingomyelin phosphodiesterase 4; 3.1.4.12; Neutral sphingomyelinase 3; Neutral sphingomyelinase III; nSMase-3; nSMase3", "protein_names_refseq": "neutral sphingomyelinase 3; neutral sphingomyelinase III; sphingomyelin phosphodiesterase 4 isoform 3; sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)", "tax_id": 9606, "disease": "neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MONDO:MONDO:0032838)", "pathway": " (hsa:55627); (R-HSA-9840310)", "pathway_count": 2, "publication_count": 174, "publication_id_list": "10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11230166;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;17105727;1718266;1720305;1740330;1756715;17924679;1840600;18505924;18524657;18669648;18691976;1889421;19007248;1907800;1915858;19405096;19698806;19836391;2001789;20068231;20728381;22544926;23186163;23481700;235289;239890;25180167;25418920;2562955;25645385;26728094;2717620;27862975;28126847;29242379;29351928;29393594;29443946;29493099;29508533;29557506;2960521;29632046;29632711;2965147;29692406;2970528;2971395;29747811;2976757;29786170;29789417;29802621;3014515;30315122;3048308;30484775;30524438;30779550;30833945;31154438;31217245;31222486;3136930;31495489;31530632;3158659;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34185709;34211107;34405274;34509645;3456607;34932366;35051231;35203325;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37882972;39534244;39940;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8804427;8889578;8955159;8985184;9217013;9338580;9520418;9521684", "class_list": "", "function": "Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (PubMed:16517606, PubMed:25180167). It has a relevant role in the homeostasis of membrane sphingolipids, thereby influencing membrane integrity, and endoplasmic reticulum organization and function (PubMed:31495489). May sensitize cells to DNA damage-induced apoptosis (PubMed:18505924). In skeletal muscle, mediates TNF-stimulated oxidant production (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Data show DA remarkably increased the NSMase2 message and protein, whereas little change in NSMase1 and NSMase3 mRNAs., [RefSeq, PubMed]; Data show that SMPD4 links homeostasis of membrane sphingolipids to cell fate by regulating the cross-talk between the endoplasmic reticulum and the outer nuclear envelope, while its loss reveals a pathogenic mechanism in microcephaly, [RefSeq, PubMed]; NSMase3 is an important molecule that is linked to tumorigenesis and cellular stress response, [RefSeq, PubMed]; Proximity Ligation Mapping of Microcephaly Associated SMPD4 Shows Association with Components of the Nuclear Pore Membrane. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017]., [RefSeq]; Two novel cases of biallelic SMPD4 variants with brain structural abnormalities. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B1PBA3;B4DM23;B4DQ31;B4DRB8;B4DWK7;B4E0L6;E7ESA2;E9PCE6;Q6FI76;Q6P1P7;Q6ZT43;Q9H0M2;Q9NW20;Q9NWL2;Q9P2C9", "ec_number_list": [ { "id": "3.1.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.12", "type": "external" }, { "id": "3.1.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.3", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0050290 sphingomyelin phosphodiesterase D activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0046513 ceramide biosynthetic process;GO:0046475 glycerophospholipid catabolic process;GO:0071356 cellular response to tumor necrosis factor;GO:0006685 sphingomyelin catabolic process;GO:0007029 endoplasmic reticulum organization", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "Q9NXE4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SB8-1", "uniprot_id": [ { "id": "SMC6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SB8", "type": "external" } ], "mass": 126326.0, "length": 1091, "protein_name": "Structural maintenance of chromosomes protein 6", "gene_name": "SMC6", "organism": "Human", "refseq_name": "structural maintenance of chromosomes protein 6", "refseq_ac": [ { "id": "NP_001135758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135758", "type": "external" } ], "gene_names_uniprotkb": "SMC6; SMC6L1", "gene_names_refseq": "SMC-6; SMC6L1; SMC6; hSMC6", "protein_names_uniprotkb": "Structural maintenance of chromosomes protein 6; SMC protein 6; SMC-6; hSMC6", "protein_names_refseq": "SMC protein 6; SMC6 structural maintenance of chromosomes 6-like 1; structural maintenance of chromosomes protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:79677); (R-HSA-3108214)", "pathway_count": 2, "publication_count": 139, "publication_id_list": "10.1101/2023.09.13.557529;10574707;11230166;11237011;11408570;11792325;11889051;14701739;15104674;15175327;15355988;15608651;15823533;15829507;15940266;15959518;16030353;16055714;16478998;16608850;16626738;16688858;16810316;16959974;17589526;17693435;18077418;18086888;18625722;18691969;18708356;19287951;19596686;19622798;19690332;19706679;19779455;19956565;20016594;20016603;20112406;20190268;20705237;21098080;21147198;21284855;21550342;22508508;22635276;22661230;22751501;23186163;23481700;23750026;23871147;24027577;24366607;24714562;24715725;24782567;25114211;25218447;25418920;25469497;25576301;25931565;26154972;26375851;26728094;26811146;26929215;26983541;26992070;27543614;27600516;27846572;27920218;28063628;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30429286;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34185709;34211107;34405274;34509645;34561969;34932366;35051231;35263599;35561310;35580925;35914008;36010968;36284347;36376394;37217939;38375830;38886582;39242537;9412458;9452416;9756909;9885291", "class_list": "", "function": "Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. SMC5-SMC6 complex may prevent transcription of episomal DNA, such as circular viral DNA genome (PubMed:26983541)., [UniProtKB, PubMed, PubMed, PubMed]; Epigenetic silencing by the SMC5/6 complex mediates HIV-1 latency., [RefSeq, PubMed]; Human Smc5/6 recognises transcription-generated positive DNA supercoils. Publication Status: Online-Only, [RefSeq, PubMed]; The SMC5/6 complex prevents genotoxicity upon APOBEC3A-mediated replication stress., [RefSeq, PubMed]; The SMC5/6 complex: folding chromosomes back into shape when genomes take a break. Review article, [RefSeq, PubMed]; The human SMC5/6 complex and the SUMO ligase activity of hMMS21 are required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair in human cells, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "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": "A8K8Q6;D6W518;Q05BV4;Q9H0X3;Q9H6M0", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0003684 damaged DNA binding;GO:0031625 ubiquitin protein ligase binding;GO:0003697 single-stranded DNA binding;GO:0000217 DNA secondary structure binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0000775 chromosome, centromeric region;GO:0016605 PML body", "go_biological_process": "GO:0051984 positive regulation of chromosome segregation;GO:0032204 regulation of telomere maintenance;GO:0016925 protein sumoylation;GO:0006974 DNA damage response;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "Q96SB8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXF0-1", "uniprot_id": [ { "id": "NPAS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXF0", "type": "external" } ], "mass": 100805.0, "length": 933, "protein_name": "Neuronal PAS domain-containing protein 3", "gene_name": "NPAS3", "organism": "Human", "refseq_name": "neuronal PAS domain-containing protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001158221", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158221", "type": "external" } ], "gene_names_uniprotkb": "NPAS3; BHLHE12; MOP6; PASD6", "gene_names_refseq": "MOP6; NPAS3; PASD6; bHLHe12", "protein_names_uniprotkb": "Neuronal PAS domain-containing protein 3; Basic-helix-loop-helix-PAS protein MOP6; Class E basic helix-loop-helix protein 12; Member of PAS protein 6; Neuronal PAS3; PAS domain-containing protein 6; bHLHe12", "protein_names_refseq": "PAS domain-containing protein 6; basic-helix-loop-helix-PAS protein MOP6; class E basic helix-loop-helix protein 12; member of PAS protein 6; neuronal PAS domain-containing protein 3 isoform 1; neuronal PAS domain-containing protein 3; neuronal PAS3", "tax_id": 9606, "disease": "", "pathway": " (hsa:64067)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12746393;18317462;18519826;25645385;26154972;28657654;29557506;31154438;31844290;33141586;33758288;36044858;37480305", "class_list": "", "function": "Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Haploinsufficiency of NPAS3 contributes to the cause of schizophrenia, [RefSeq, PubMed]; May play a broad role in neurogenesis. May control regulatory pathways relevant to schizophrenia and to psychotic illness (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Npas3 deficiency impairs cortical astrogenesis and induces autistic-like behaviors. Erratum:[Cell Rep. 2022 Nov 8;41(6):111551. doi: 10.1016/j.celrep.2022.111551. PMID: 36351396], [RefSeq, PubMed]; SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED FOLLOW UP STUDY., [RefSeq, PubMed]; This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and cognitive disability. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]., [RefSeq]; This study demonstrated that these risk and protective effects act combinatorially, potentially multiplicatively, to determine NPAS3 gene-wide susceptibility in bipolar disorder and schizophrenia. 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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q86US6;Q86US7;Q8IXF2;Q9BY81;Q9H323;Q9Y4L8", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0046983 protein dimerization activity;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:0045893 positive regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8IXF0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H857-1", "uniprot_id": [ { "id": "NT5D2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H857", "type": "external" } ], "mass": 60719.0, "length": 520, "protein_name": "5'-nucleotidase domain-containing protein 2", "gene_name": "NT5DC2", "organism": "Human", "refseq_name": "5'-nucleotidase domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001127703", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127703", "type": "external" } ], "gene_names_uniprotkb": "NT5DC2", "gene_names_refseq": "NT5DC2", "protein_names_uniprotkb": "5'-nucleotidase domain-containing protein 2; 3.1.3.-", "protein_names_refseq": "5'-nucleotidase domain-containing protein 2 isoform 1; 5'-nucleotidase domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64943)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;25892735;26992070;29557506;29769354;30978441;31217245;31844290;31848261;32157095;32382041;32991874;33968037;34087483;34171305;34357683;34561969;35494241;35894142;36010968;36241641;37800836;38289126", "class_list": "", "function": "Decreased RNAbinding protein IGF2BP2 downregulates NT5DC2, which suppresses cell proliferation, and induces cell cycle arrest and apoptosis in diffuse large Bcell lymphoma cells by regulating the p53 signaling pathway. Erratum:[Mol Med Rep. 2023 Mar;27(3):67. doi: 10.3892/mmr.2023.12954. PMID: 36799157], [RefSeq, PubMed]; Disruption of NT5DC2 in GSCs markedly reduces the expression of Fyn, a Src family proto-oncogene that has been implicated in the regulation of GBM progression. The expression of NT5DC2 strongly correlated with increased aggression of human gliomas, but not that of other brain tumors., [RefSeq, PubMed]; Gastric cancer metastasis-related NT5DC2 indicates unfavorable prognosis of patients., [RefSeq, PubMed]; NT5DC2 knockdown inhibits colorectal carcinoma progression by repressing metastasis, angiogenesis and tumor-associated macrophage recruitment: A mechanism involving VEGF signaling., [RefSeq, PubMed]; NT5DC2 knockdown suppresses progression, glycolysis, and neuropathic pain in triple-negative breast cancer by blocking the EGFR pathway., [RefSeq, PubMed]; NT5DC2 promotes tumor cell proliferation by stabilizing EGFR in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes dephosphorylation of tyrosine 3-monooxygenase TH which decreases TH catalytic activity and leads to reduced synthesis of catecholamines including dopamine, noradrenaline and adrenaline. The exact mechanism of activity is unknown but may act as a phosphatase or promote the activity of phosphatases or may inhibit phosphorylation by acting as a barrier to interfere with protein kinase access., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JTZ6;E9PAL9;O95888;Q96C80;Q9H9Z8", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008253 5'-nucleotidase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:1903180 negative regulation of dopamine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9H857-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15547-1", "uniprot_id": [ { "id": "P2RX6_HUMAN", "url": "https://www.uniprot.org/uniprot/O15547", "type": "external" } ], "mass": 48829.0, "length": 441, "protein_name": "P2X purinoceptor 6", "gene_name": "P2RX6", "organism": "Human", "refseq_name": "P2X purinoceptor 6 isoform 2", "refseq_ac": [ { "id": "NP_001153026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026", "type": "external" } ], "gene_names_uniprotkb": "P2RX6; P2RXL1; P2X6", "gene_names_refseq": "P2RX6; P2RXL1; P2X6; P2XM", "protein_names_uniprotkb": "P2X purinoceptor 6; ATP receptor; P2X6; P2XM; Purinergic receptor P2X-like 1; Purinergic receptor", "protein_names_refseq": "ATP receptor; P2X purinoceptor 6 isoform 2; P2X purinoceptor 6; purinergic receptor P2X, ligand gated ion channel, 6; purinergic receptor P2X-like 1, orphan receptor; purinoceptor P2X6; purinoreceptor P2X6; skeletal muscle-expressed P2X", "tax_id": 9606, "disease": "", "pathway": " (hsa:9127); (R-HSA-139853); (R-HSA-418346)", "pathway_count": 3, "publication_count": 26, "publication_id_list": "10.1101/2023.09.13.557529;10228183;11237011;11805119;12088286;12112843;12907444;15657042;18477386;18852390;19023099;19240061;21882811;22378790;2457808;25707358;28411811;31844290;32157095;32938616;35051231;8646775;9242461;9494101;9565569;9930701", "class_list": "", "function": "May act as a modulatory subunit rather than a functional channel. Unlike other P2XRs members, P2RX6 does not seem to form functional homotrimers (PubMed:22378790). P2RX6 requires the presence of P2RX4 or P2RX2 to shuttle it to the plasma membrane where it may form functional heterotrimeric receptors at the plasma membrane (PubMed:22378790). P2RX6 can be translocated to the nucleus and functions as a nuclear regulator of post-transcriptional modifications in neurons (By similarity)., [UniProtKB, PubMed, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; One subunit of P2X2 and two subunits of P2X3 form P2X2/3 heteromeric receptors, whereas two subunits of P2X2 and one subunit of P2X6 constitute P2X2/6 receptors, [RefSeq, PubMed]; P2X(2) receptors are trimers, whereas the P2X(6) receptor subunits do not form stable oligomers, [RefSeq, PubMed]; Results show that P2X4 and P2X6 receptors are associated with VE-cadherin at HUVEC adherens junctions., [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 8, "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": "F6V3D7;Q32MB6;Q58F04;Q6IC33;Q9UL50", "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:0004888 transmembrane signaling receptor activity;GO:0005524 ATP binding;GO:0015267 channel activity;GO:0044877 protein-containing complex binding;GO:0001614 purinergic nucleotide receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030054 cell junction;GO:0043025 neuronal cell body", "go_biological_process": "GO:0006936 muscle contraction;GO:0007165 signal transduction;GO:0070588 calcium ion transmembrane transport;GO:0033198 response to ATP;GO:0034220 monoatomic ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "O15547-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8CG34-1", "uniprot_id": [ { "id": "P121C_HUMAN", "url": "https://www.uniprot.org/uniprot/A8CG34", "type": "external" } ], "mass": 125092.0, "length": 1229, "protein_name": "Nuclear envelope pore membrane protein POM 121C", "gene_name": "POM121C", "organism": "Human", "refseq_name": "nuclear envelope pore membrane protein POM 121C", "refseq_ac": [ { "id": "NP_001092885", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092885", "type": "external" } ], "gene_names_uniprotkb": "POM121C", "gene_names_refseq": "POM121-2; POM121C", "protein_names_uniprotkb": "Nuclear envelope pore membrane protein POM 121C; Nuclear pore membrane protein 121-2; POM121-2; Pore membrane protein of 121 kDa C", "protein_names_refseq": "POM121 membrane glycoprotein C; nuclear envelope pore membrane protein POM 121C; nuclear pore membrane protein 121-2; pore membrane protein of 121 kDa C", "tax_id": 9606, "disease": "", "pathway": " (hsa:100101267); (R-HSA-1169408); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-6784531); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9705671)", "pathway_count": 31, "publication_count": 427, "publication_id_list": "10205180;10228171;10323864;10444065;10489353;10526235;10531003;10556282;10574707;10601273;10601333;10668806;10725331;10759568;10827188;10846107;10851237;10862613;10920397;10954706;11014198;11073998;11095724;11112487;11118210;11124902;11157743;11231581;11237011;11256625;11259411;11259602;11289803;11333016;11451485;11455963;11502751;11514627;11579093;11709553;11714716;11727826;11739738;11747420;11748230;11756420;11788588;11792325;11836381;11871657;11889051;11909533;11932251;11960997;12003494;12019269;12027805;12032081;12065586;12072510;12093754;12095920;12121577;12138183;12149243;12196509;12228227;12393906;12441251;12525615;12526808;12582176;12589057;12692549;12711671;12729736;12747803;12759408;12776181;12802065;12832072;12853476;12857923;12917326;12974469;14516784;14578449;14627435;14701874;15082759;15109492;15120988;15131269;15161980;15175327;15199155;15208624;1531330;15317868;15355988;15364926;15378033;15485925;15574331;15592428;15608651;15702989;15731250;15802566;15823533;15829507;15831457;1586970;15931174;15940266;15959518;15989970;16009940;16030353;16112642;16122702;16139798;16140760;16194093;16278218;16314397;16352599;16361254;16407192;16428300;16478998;16608850;16608852;16626738;16688858;16699525;16710424;16715065;16775314;16810316;16815975;16872604;16914094;16933365;17000901;17018294;17081640;17081983;17132145;17183683;17204286;17224653;17289916;17317185;17376915;17412958;1754405;17690096;17693435;17698605;17705785;17900573;18203656;18226598;18235501;18235502;18287095;18305167;18364396;18381449;18394993;18408014;18411249;18423201;18535146;18550409;18583345;18625722;18628979;18691969;18708356;18809514;18946085;18984158;19073728;19125153;19229036;19270716;19287951;1944575;19494120;19596686;19622798;19640981;19682613;19690332;19706679;19779455;1985200;19914676;19956565;20016594;20016603;20098713;20129943;20133869;2017161;2017166;20190268;20219937;20300531;20308324;20351170;20385878;20417598;20630994;20663916;20705237;20797632;20797634;20953181;20972456;21098080;21147198;21167178;21284855;21311021;21335236;21406692;21450806;21550342;21554500;21559454;21593607;21647297;21690215;21740066;22174689;22402492;22457066;22464730;22465953;22493095;22508508;22541429;22635276;22661230;22732409;22735644;22751501;22825850;22893130;22940245;22941947;22944664;23092970;23186163;23299939;23349863;23582887;23750026;23804756;23826332;23871147;24002598;24027577;24068740;24369422;2470644;24782567;24870230;25114211;25218447;25391492;25640237;25704882;25723178;25849199;26572645;27068747;27114449;27501258;28415052;28832583;28834231;29237092;29242379;29351928;29487953;29557506;29632046;30059200;30315122;30355688;30360396;30379171;30397120;30429286;30620550;30761409;30833945;31154438;31373491;31492838;31844290;31848261;31850239;32119511;32157095;32350084;32353859;32387766;32428392;32488085;32502341;32574038;32589897;32726803;32728199;32870666;32938750;32953130;32979938;33024073;33060197;33097660;33110251;33214551;33298915;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33633747;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33981976;33989516;33990585;34019948;34021074;34054808;34084167;34105348;34110168;34166398;34171305;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34597346;34932366;35051231;35102342;35132862;35251023;35254053;35513511;35580925;35643212;35705054;36240223;37051252;37541260;38665916;38838015;39302247;39531497;39534244;40307207;6261960;6930639;7559393;7585962;7759547;7769657;7828588;7878053;7958838;8113738;8196654;8313914;8721986;8805303;8946918;9092824;9305631;9405152;9412458;9436978;9452416;9512417;9525617;9582382;9618489;9651582;9660920;9660949;9755184;9756909;9837918;9845364;9873016;9885291;9920933", "class_list": "", "function": "Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL)., [UniProtKB, PubMed]; Gene expression and adipocyte functional studies support the notion that FAM13A and POM121C control adipocyte lipolysis and adipogenesis, respectively, and might thereby be involved in genetic control of systemic insulin sensitivity, [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": 64, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 64, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 64, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 90, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 65, "binding_glycan_count": 0, "secondary_ac_list": "A0A075B7F8;A0A087WY75;O75115;Q9Y2N3;Q9Y4S7", "ec_number_list": [], "go_molecular_function": "GO:0017056 structural constituent of nuclear pore;GO:0008139 nuclear localization sequence binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0051028 mRNA transport;GO:0006405 RNA export from nucleus;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 49.4, "record_id": "A8CG34-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX24-1", "uniprot_id": [ { "id": "NHP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX24", "type": "external" } ], "mass": 17201.0, "length": 153, "protein_name": "H/ACA ribonucleoprotein complex subunit 2", "gene_name": "NHP2", "organism": "Human", "refseq_name": "H/ACA ribonucleoprotein complex subunit 2 isoform b", "refseq_ac": [ { "id": "NP_001030005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030005", "type": "external" } ], "gene_names_uniprotkb": "NHP2; HSPC286; NOLA2", "gene_names_refseq": "DKCB2; NHP2P; NHP2; NOLA2", "protein_names_uniprotkb": "H/ACA ribonucleoprotein complex subunit 2; Nucleolar protein family A member 2; snoRNP protein NHP2", "protein_names_refseq": "H/ACA ribonucleoprotein complex subunit 2 isoform b; NHP2 ribonucleoprotein homolog; NHP2-like protein; h/ACA ribonucleoprotein complex subunit 2; nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs); snoRNP protein NHP2", "tax_id": 9606, "disease": "autosomal recessive dyskeratosis congenita 2 (Disease Ontology:DOID:0070017)", "pathway": " (hsa:55651); (R-HSA-171319); (R-HSA-174430); (R-HSA-6790901)", "pathway_count": 4, "publication_count": 113, "publication_id_list": "10606270;11074001;11081632;11237011;11790298;11935223;11978965;12020816;12417735;12429849;12699629;15044956;15060173;15189140;15199136;16314528;16339074;16381836;16522649;16782898;17172855;17395830;17636026;18358808;18523010;19033376;19179534;19383767;19463982;19615748;19691289;19734544;19854130;20047967;20068231;20351177;20404094;20524933;20639858;20797632;22579284;22871736;23103865;23301498;23391857;23657261;24086612;25114211;25128433;25218447;25271372;25411247;25525153;25576301;25620558;25653167;25755297;25772364;25851604;25892735;26085946;26154972;26196125;26375851;27084949;27846572;27893789;27920218;28334750;28510447;28514659;28832583;28904123;29178645;29242379;29493099;29508533;29557506;29632711;29695869;29774655;29789417;30026550;30192525;30315122;30779550;31154438;31530632;31723267;31844290;31937595;32387766;32488085;32502341;32897882;33091337;33141586;33392160;33595114;33912179;33968037;33981976;34087483;35251023;35561310;36215666;36241641;36933847;37217939;37938771;6693436;9211966;9512526", "class_list": "", "function": "A novel mutation (p.Y24N) in NHP2 leads to idiopathic pulmonary fibrosis and lung carcinoma chronic obstructive lung disease by disrupting the expression and nucleocytoplasmic localization of NHP2., [RefSeq, PubMed]; Common component of the spliceosome and rRNA processing machinery., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; NHP2 downregulation counteracts hTR-mediated activation of the DNA damage response at ALT telomeres., [RefSeq, PubMed]; Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NKY8;Q9P095", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0034513 box H/ACA snoRNA binding;GO:0034511 U3 snoRNA binding;GO:0070034 telomerase RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005697 telomerase holoenzyme complex;GO:0031429 box H/ACA snoRNP complex;GO:0072589 box H/ACA scaRNP complex;GO:0090661 box H/ACA telomerase RNP complex", "go_biological_process": "GO:0090671 telomerase RNA localization to Cajal body;GO:0031118 rRNA pseudouridine synthesis;GO:0031120 snRNA pseudouridine synthesis;GO:0007004 telomere maintenance via telomerase;GO:0000454 snoRNA guided rRNA pseudouridine synthesis", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q9NX24-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00712-1", "uniprot_id": [ { "id": "NFIB_HUMAN", "url": "https://www.uniprot.org/uniprot/O00712", "type": "external" } ], "mass": 47442.0, "length": 420, "protein_name": "Nuclear factor 1 B-type", "gene_name": "NFIB", "organism": "Human", "refseq_name": "nuclear factor 1 B-type isoform 2", "refseq_ac": [ { "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667", "type": "external" } ], "gene_names_uniprotkb": "NFIB", "gene_names_refseq": "CTF; HMGIC/NFIB; MACID; NF-I/B; NF1-B; NFI-B; NFI-RED; NFIB2; NFIB3; NFIB", "protein_names_uniprotkb": "Nuclear factor 1 B-type; CCAAT-box-binding transcription factor; CTF; NF-I/B; NF1-B; NFI-B; Nuclear factor 1/B; Nuclear factor I/B; TGGCA-binding protein", "protein_names_refseq": "CCAAT-box-binding transcription factor; TGGCA-binding protein; nuclear factor 1 B-type isoform 2; nuclear factor 1 B-type; nuclear factor 1/B", "tax_id": 9606, "disease": "macrocephaly, acquired, with impaired intellectual development (MONDO:MONDO:0032658)", "pathway": " (hsa:4781); (R-HSA-73980); (R-HSA-749476)", "pathway_count": 3, "publication_count": 42, "publication_id_list": "11118217;11237011;12639247;15345747;17511965;18452278;18669648;20068231;23186163;24275569;25892735;28904123;29242379;29393594;29557506;29786170;30388402;31375868;31492838;31844290;32387766;32488085;32938616;33214551;33968037;34019948;35051231;35254053;35289036;36284347;36730637;36756855;37405427;37604829;38385986;40596516;7590749;8035818;8308883;9099724;9484777;9660958", "class_list": "", "function": "C-terminal domain of the nuclear factor I-B2 isoform is glycosylated and transactivates the WAP gene in tumor cells, [RefSeq, PubMed]; CircIFFO1 suppresses tumor growth and metastasis of cutaneous squamous cell carcinoma by targeting the miR-424-5p/NFIB axis., [RefSeq, PubMed]; Effect of the NFIB rs28379954 T>C polymorphism on CYP2D6-catalyzed metabolism of solanidine., [RefSeq, PubMed]; Expression of NFI-B2 impairs CD4 transcription on CDd4-positive primary T-lymphocytes and cell lines in HIV-1 infection, [RefSeq, PubMed]; Knockdown of circ-PIP5K1A overcomes resistance to cisplatin in ovarian cancer by miR-942-5p/NFIB axis., [RefSeq, PubMed]; Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder., [RefSeq, PubMed]; NFIB facilitates replication licensing by acting as a genome organizer. Publication Status: Online-Only, [RefSeq, PubMed]; Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Transcriptional activator of GFAP, essential for proper brain development (PubMed:30388402). Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication., [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": 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": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "G3V1P1;H7BYE8;O00166;Q12858;Q5VW29;Q63HM5;Q6ZNF9;Q96J45", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001650 fibrillar center;GO:0000785 chromatin;GO:0044300 cerebellar mossy fiber", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006260 DNA replication", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O00712-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3C1-1", "uniprot_id": [ { "id": "NOP16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3C1", "type": "external" } ], "mass": 21188.0, "length": 178, "protein_name": "Nucleolar protein 16", "gene_name": "NOP16", "organism": "Human", "refseq_name": "nucleolar protein 16 isoform 1", "refseq_ac": [ { "id": "NP_001243468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243468", "type": "external" } ], "gene_names_uniprotkb": "NOP16; CGI-117; HSPC111", "gene_names_refseq": "HSPC111; HSPC185; NOP16", "protein_names_uniprotkb": "Nucleolar protein 16; HBV pre-S2 trans-regulated protein 3", "protein_names_refseq": "HBV pre-S2 trans-regulated protein 3; NOP16 nucleolar protein homolog; hypothetical protein HSPC111; nucleolar protein 16 homolog; nucleolar protein 16 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51491)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "11237011;12429849;18373870;18669648;19608861;19691289;20068231;21406692;23186163;23301498;23481700;24425784;24715725;25418920;25576301;25802875;26154972;26375851;26929215;26992070;27846572;27920218;28228285;28510447;28832583;28834231;28904123;29242379;29371260;29393594;29493099;29508533;29557506;29632046;29786170;29789417;30315122;30429286;30524438;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33936100;34019948;34171305;34185709;34211107;34357683;34561969;34932366;35027547;35051231;35580925;36010968;36215666;37217939;37625836;37938771;38251077", "class_list": "", "function": "Cancer-derived exosomal HSPC111 promotes colorectal cancer liver metastasis by reprogramming lipid metabolism in cancer-associated fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated Expression of NOP16 as a Novel Prognostic Biomarker of Prostate Cancer., [RefSeq, PubMed]; HSPC111 is an estrogen and c-Myc target gene that is over-expressed in breast cancer and is associated with an adverse patient outcome., [RefSeq, PubMed]; NOP16 promotes hepatocellular carcinoma progression and triggers EMT through the Keap1-Nrf2 signaling pathway., [RefSeq, PubMed]; RNA 3'-phosphate cyclase (RTCD1/RTCA) interacted with HSPC111, and RTCD1 was involved in the HSPC111 multiprotein complex in regulating rRNA production and ribosomal biogenesis., [RefSeq, PubMed]; This gene encodes a protein that is localized to the nucleolus. Expression of this gene is induced by estrogens and Myc protein and is a marker of poor patient survival in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4DV13;D6RGD3;Q05D05;Q6IAI6;Q6PIM0;Q8IXL5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "GO:0042273 ribosomal large subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9Y3C1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01210-1", "uniprot_id": [ { "id": "PENK_HUMAN", "url": "https://www.uniprot.org/uniprot/P01210", "type": "external" } ], "mass": 30787.0, "length": 267, "protein_name": "Proenkephalin-A", "gene_name": "PENK", "organism": "Human", "refseq_name": "proenkephalin-A preproprotein", "refseq_ac": [ { "id": "NP_001129162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129162", "type": "external" } ], "gene_names_uniprotkb": "PENK", "gene_names_refseq": "PENK-A; PENK; PE", "protein_names_uniprotkb": "Proenkephalin-A; BAM(8-22); Bovine adrenal medulla peptide 20; Bovine adrenal medulla peptide 22; Bovine adrenal medulla peptide 8-22; OGF; Opioid growth factor", "protein_names_refseq": "enkephalin A; peptide F; preproenkephalin; proenkephalin-A preproprotein; proenkephalin-A", "tax_id": 9606, "disease": "spinal disease (Disease Ontology:DOID:0060564); overactive bladder syndrome (Disease Ontology:DOID:0070355); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826); dystonia (Disease Ontology:DOID:543); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:5179); (R-HSA-375276); (R-HSA-381426); (R-HSA-418594); (R-HSA-8957275)", "pathway_count": 5, "publication_count": 181, "publication_id_list": "10026136;10077652;10079109;10100623;10218588;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10512690;10604470;10614670;10681634;10810289;10854085;10898936;10899166;10912521;10951195;10990447;11007482;11158056;11237011;11250653;11264294;11316783;11322507;11385580;11457843;11522292;11562423;11606061;11683476;11739083;11751371;11773063;11788658;11850634;12120503;12241545;12379487;12427552;12466191;12540846;12719537;1280419;12810533;12904166;12956774;1314587;1317848;1325670;1337145;1346068;1370451;1383255;14463577;14550283;14573733;15126567;15139756;15308688;15469690;15485880;15525596;15539556;15642270;1567413;15947423;15951850;1655761;16634148;16923326;17047378;1710450;1710578;1719979;1722333;17249697;17312271;17985932;18127230;18434541;1847994;18577758;21593341;23446738;23690594;2476804;2479552;24906252;2534964;26091039;2649896;2748346;27496565;28223516;2834384;2982830;30429286;31154438;31848261;3202875;3366244;3525564;36302898;37591889;38057904;38200454;3856870;39725036;6274691;6281660;6373251;656131;6589611;7057924;7519608;7523391;7524088;7525263;7525634;7525824;7527330;7536850;7538844;7543116;7588299;7590751;7592910;7592911;7624359;7683646;7689487;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8781553;8817670;8823230;8894645;8964575;9126357;9171878;9497324;9521323;9530155;9593744;9607765;9685625;9709957;9722565;9733769;9786878;9792798;9832121;9851594;9922210", "class_list": "", "function": "Increases glutamate release in the striatum and decreases GABA concentration in the striatum., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Increases glutamate release in the striatum., [UniProtKB, UniProtKB]; Met-enkephalin-Arg-Phe neuropeptide acts as a strong ligand of Mu-type opioid receptor OPRM1. Met-enkephalin-Arg-Phe-binding to OPRM1 in the nucleus accumbens of the brain increases activation of OPRM1, leading to long-term synaptic depression of glutamate release., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Neuropeptide that competes with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Neuropeptide that induces itch in a histamine-independent manner as well as nociceptive sensations (PubMed:11850634, PubMed:28223516). Acts as a ligand for MRGPRX1 receptor in sensory neurons of dorsal root ganglion: MRGPRX1-binding in the peripheral nervous system elicits itch and scratching, while MRGPRX1-binding in the central nervous system dampens chronic pain (PubMed:11850634, PubMed:21593341, PubMed:28223516, PubMed:36302898, PubMed:37591889, PubMed:39725036)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Neuropeptide that induces itch in a histamine-independent manner as well as nociceptive sensations. Acts as a ligand for MRGPRX1 receptor in sensory neurons of dorsal root ganglion: MRGPRX1-binding in the peripheral nervous system elicits itch and scratching, while MRGPRX1-binding in the central nervous system dampens chronic pain., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Neuropeptide that mediates stress-induced opioid analgesia (By similarity). Also possesses non-opioid action by acting as a ligand for MRGPRX1 receptor to induce itch in a histamine-independent manner (PubMed:11850634)., [UniProtKB, UniProtKB, PubMed]; Neuropeptide that mediates stress-induced opioid analgesia. Also possesses non-opioid action by acting as a ligand for MRGPRX1 receptor to induce itch in a histamine-independent manner., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Plasma proenkephalin A and incident chronic kidney disease and albuminuria in the REasons for Geographic And Racial Differences in Stroke (REGARDS) cohort. Publication Status: Online-Only, [RefSeq, PubMed]; Proenkephalin as a biomarker correlates with acute kidney injury: a systematic review with meta-analysis and trial sequential analysis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the pentapeptide opioids Met-enkephalin and Leu-enkephalin, which are stored in synaptic vesicles, then released into the synapse where they bind to mu- and delta-opioid receptors to modulate the perception of pain. Other non-opioid cleavage products may function in distinct biological activities. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 12, "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": "B2RC23;Q6FHC6;Q6FHE6", "ec_number_list": [], "go_molecular_function": "GO:0031628 opioid receptor binding;GO:0005184 neuropeptide hormone activity;GO:0048018 receptor ligand activity;GO:0001515 opioid peptide activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0030425 dendrite", "go_biological_process": "GO:0007165 signal transduction;GO:0007218 neuropeptide signaling pathway;GO:0032496 response to lipopolysaccharide;GO:0035094 response to nicotine;GO:0051592 response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "P01210-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0G5-1", "uniprot_id": [ { "id": "NSRP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0G5", "type": "external" } ], "mass": 66390.0, "length": 558, "protein_name": "Nuclear speckle splicing regulatory protein 1", "gene_name": "NSRP1", "organism": "Human", "refseq_name": "nuclear speckle splicing regulatory protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001248396", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248396", "type": "external" } ], "gene_names_uniprotkb": "NSRP1; CCDC55; NSRP70", "gene_names_refseq": "CCDC55; HSPC095; NEDSSBA; NSRP1; NSrp70", "protein_names_uniprotkb": "Nuclear speckle splicing regulatory protein 1; Coiled-coil domain-containing protein 55; NSrp70; Nuclear speckle-related protein 70", "protein_names_refseq": "coiled-coil domain containing 55; coiled-coil domain-containing protein 55; nuclear speckle splicing regulatory protein 1 isoform 2; nuclear speckle-related protein 70", "tax_id": 9606, "disease": "neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (MONDO:MONDO:0859275)", "pathway": " (hsa:84081); (R-HSA-72163)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "10882114;11014198;11101529;11230166;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;16964243;17081983;17095540;17322306;17332742;17606899;18220336;18322460;18452278;18593880;18669648;19047128;19103666;19165350;19413330;19536130;19651622;19664994;19664995;19690332;20068231;20423332;20980672;21296756;21406692;21536652;2176635;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23301498;23345524;24196718;24275569;24304693;24448447;24737827;24914973;25218447;25555158;2558966;26385511;26420826;26475744;26797131;26969736;26992070;27377154;27459055;27683217;28062851;28076346;28502770;28510447;28781166;28832583;29242379;29301961;29360106;29361316;29508533;2963332;29786170;30315277;30705154;30728453;30765414;30975767;31154438;31409651;31844290;32157095;32179686;32329775;32357974;32494006;32897882;32938616;33243851;33446560;33717175;33912179;33968037;34171305;34301950;34385670;34822310;35051231;35385551;35568738;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy., [RefSeq, PubMed]; Coiled coil domain-containing 55 gene may be involved in a functional bridging between the CNR1 activation and the disrupted in schizophrenia 1/Ran binding protein 9-associated pathways., [RefSeq, PubMed]; NSrp70 acts as a new molecular counterpart for alternative splicing of target RNA, counteracting SRSF1 and SRSF2 splicing activity., [RefSeq, PubMed]; NSrp70 suppresses metastasis in triple-negative breast cancer by modulating Numb/TbetaR1/EMT axis., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RNA-binding protein that mediates pre-mRNA alternative splicing regulation (PubMed:21296756). Through CCDC118 regulation, may promote pre-adipocyte differentiation (By similarity)., [UniProtKB, PubMed, UniProtKB]; RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Through CCDC118 regulation, may promote pre-adipocyte differentiation., [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": 13, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6FI71", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:1904179 positive regulation of adipose tissue development;GO:0006397 mRNA processing;GO:0032502 developmental process;GO:0008380 RNA splicing;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q9H0G5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92698-1", "uniprot_id": [ { "id": "RAD54_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92698", "type": "external" } ], "mass": 84352.0, "length": 747, "protein_name": "DNA repair and recombination protein RAD54-like", "gene_name": "RAD54L", "organism": "Human", "refseq_name": "DNA repair and recombination protein RAD54-like isoform 1", "refseq_ac": [ { "id": "NP_001136020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136020", "type": "external" } ], "gene_names_uniprotkb": "RAD54L; RAD54A", "gene_names_refseq": "HR54; RAD54A; RAD54L; hHR54; hRAD54", "protein_names_uniprotkb": "DNA repair and recombination protein RAD54-like; 3.6.4.-; RAD54 homolog; hHR54; hRAD54", "protein_names_refseq": "DNA repair and recombination protein RAD54-like isoform 1; RAD54 homolog", "tax_id": 9606, "disease": "non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); sclerocornea (Disease Ontology:DOID:0060252); disease of cellular proliferation (Disease Ontology:DOID:14566); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793)", "pathway": " (hsa:8438)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10362365;10449612;11237011;11459989;11884632;12205100;23186163;23481700;24714562;24798879;25576301;26154972;26728094;26992070;27264870;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29295984;29393594;29508533;29557506;29632046;30315122;30524438;31217245;31844290;32157095;32387766;32457312;32502341;32938616;33968037;34079088;34087483;34169999;34509645;35051231;35580925;36010968;36071250;36454390;38593124;8805304;9192813;9321665;9774452", "class_list": "", "function": "Association of MTHFR, MTRR and RAD54L Gene Variations with Meningioma and Correlation with Tumor's Histopathological Characteristics on Turkish Cohort., [RefSeq, PubMed]; DNA repair/recombination protein 54L promotes the progression of lung adenocarcinoma by activating mTORC1 pathway., [RefSeq, PubMed]; Multifunctional ATPase that plays a role in homologous recombination (HR) which is a major pathway for repairing DNA double-strand breaks (DSBs), single-stranded DNA (ssDNA) gaps, and stalled or collapsed replication forks (PubMed:11459989, PubMed:12205100, PubMed:24798879, PubMed:27264870, PubMed:32457312, PubMed:9774452). Acts as a molecular motor during the homology search and guides RAD51 ssDNA along a donor dsDNA thereby changing the homology search from the diffusion-based mechanism to a motor-guided mechanism. Also plays an essential role in RAD51-mediated synaptic complex formation which consists of three strands encased in a protein filament formed once homology is recognized. Once DNA strand exchange occured, dissociates RAD51 from nucleoprotein filaments formed on dsDNA (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L., [RefSeq, PubMed]; Overexpression of RAD54L attenuates osteoarthritis by suppressing the HIF-1alpha/VEGF signaling pathway: Bioinformatics analysis and experimental validation. Publication Status: Online-Only, [RefSeq, PubMed]; Rad54L promotes bladder cancer progression by regulating cell cycle and cell senescence. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 8, "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": "Q5TE31;Q6IUY3", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0036310 ATP-dependent DNA/DNA annealing activity;GO:0008094 ATP-dependent activity, acting on DNA", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035861 site of double-strand break;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0000724 double-strand break repair via homologous recombination;GO:0007131 reciprocal meiotic recombination;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q92698-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99574-1", "uniprot_id": [ { "id": "NEUS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99574", "type": "external" } ], "mass": 46427.0, "length": 410, "protein_name": "Neuroserpin", "gene_name": "SERPINI1", "organism": "Human", "refseq_name": "neuroserpin precursor", "refseq_ac": [ { "id": "NP_001116224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116224", "type": "external" } ], "gene_names_uniprotkb": "SERPINI1; PI12", "gene_names_refseq": "HNS-S1; HNS-S2; PI12; SERPINI1; neuroserpin", "protein_names_uniprotkb": "Neuroserpin; PI-12; Peptidase inhibitor 12; Serpin I1", "protein_names_refseq": "PI-12; neuroserpin precursor; peptidase inhibitor 12; serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1; serpin I1; serpin peptidase inhibitor clade I member 1; serpin peptidase inhibitor, clade I (neuroserpin), member 1", "tax_id": 9606, "disease": "familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831)", "pathway": " (hsa:5274)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "10.1101/2023.09.13.557529;10517635;11237011;11880376;17040209;19265707;19285087;23090970;24190977;24715725;25326458;26329378;26367528;29242379;29317506;29393594;29557506;29632711;29741879;31020640;31805346;31848261;32003693;32350084;32938616;33298915;33516851;33592498;33893722;33968037;34357683;35051231;35154160;35580925;36417830;37074911;9070919;9442076", "class_list": "", "function": "Contrasting conformational dynamics of beta-sheet A and helix F with implications in neuroserpin inhibition and aggregation., [RefSeq, PubMed]; Deficits in developmental neurogenesis and dendritic spine maturation in mice lacking the serine protease inhibitor neuroserpin., [RefSeq, PubMed]; Detection of truncated isoforms of human neuroserpin lacking the reactive center loop: Implications in noninhibitory role., [RefSeq, PubMed]; Neuroserpin in Bipolar Disorder., [RefSeq, PubMed]; Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review. Review article, [RefSeq, PubMed]; Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:11880376, PubMed:19265707, PubMed:19285087, PubMed:26329378, PubMed:9442076). May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "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": 13, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 16, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K217;D3DNP1;Q6AHZ4", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0034774 secretory granule lumen;GO:0043025 neuronal cell body;GO:0043204 perikaryon;GO:0070062 extracellular exosome", "go_biological_process": "GO:0010976 positive regulation of neuron projection development;GO:0007417 central nervous system development;GO:0007422 peripheral nervous system development", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q99574-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95478-1", "uniprot_id": [ { "id": "NSA2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95478", "type": "external" } ], "mass": 30065.0, "length": 260, "protein_name": "Ribosome biogenesis protein NSA2 homolog", "gene_name": "NSA2", "organism": "Human", "refseq_name": "ribosome biogenesis protein NSA2 homolog isoform 1", "refseq_ac": [ { "id": "NP_055701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055701", "type": "external" } ], "gene_names_uniprotkb": "NSA2; HUSSY-29; TINP1", "gene_names_refseq": "CDK105; HCL-G1; HCLG1; HUSSY-29; HUSSY29; NSA2; TINP1", "protein_names_uniprotkb": "Ribosome biogenesis protein NSA2 homolog; Hairy cell leukemia protein 1; TGF-beta-inducible nuclear protein 1", "protein_names_refseq": "NSA2, ribosome biogenesis homolog; TGF beta-inducible nuclear protein 1; TGF-beta inducible nuclear protein; hairy cell leukemia protein 1; ribosome biogenesis protein NSA2 homolog isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10412)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10.1101/2023.09.13.557529;10486207;11124703;11237011;12429849;16861225;18669648;19932687;20068231;20112406;22095236;23220173;23481700;23912275;24366607;25418920;25505266;25576301;26929215;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;30243719;30315122;30410026;30429286;30484775;30833945;31154438;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32502341;32983136;33537174;33592498;33691108;33968037;34171305;34185709;34357683;34561969;34932366;35051231;35580925;38665916", "class_list": "", "function": "Data suggest that circulating NSA2 is elevated in diabetic nephropathy patients with albuminuria, and that renal and circulating NSA2 levels are increased in hyperglycemia in experimental models of diabetes., [RefSeq, PubMed]; Findings indicate a function of Nop-7-associated 2 (NSA2) in the regulation of ribosome biogenesis., [RefSeq, PubMed]; Involved in the biogenesis of the 60S ribosomal subunit. May play a part in the quality control of pre-60S particles (By similarity)., [UniProtKB]; NSA2, which increases in diabetic nephropathy, may be involved in the actions of TGFbeta1 and contribute to the development of diabetic nephropathy., [RefSeq, PubMed]; TINP1 promotes cell proliferation and significantly reduces p53 and p21 expression., [RefSeq, PubMed]; The yeast ortholog, Nsa2, is a pre-ribosomal factor that is essential for biogenesis of the large ribosomal subunit., [RefSeq, PubMed]; These results demonstrated that NSA2 is a nucleolar protein involved in cell proliferation and cell cycle regulation., [RefSeq, PubMed]; This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO: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": 7.0, "record_id": "O95478-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96L73-1", "uniprot_id": [ { "id": "NSD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96L73", "type": "external" } ], "mass": 296652.0, "length": 2696, "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-36 specific", "gene_name": "NSD1", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-36 specific isoform b", "refseq_ac": [ { "id": "NP_071900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071900", "type": "external" } ], "gene_names_uniprotkb": "NSD1; ARA267; KMT3B", "gene_names_refseq": "ARA267; KMT3B; NSD1; SOTOS1; SOTOS; STO", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase, H3 lysine-36 specific; 2.1.1.357; Androgen receptor coactivator 267 kDa protein; Androgen receptor-associated protein of 267 kDa; H3-K36-HMTase; Lysine N-methyltransferase 3B; NR-binding SET domain-containing protein; Nuclear receptor-binding SET domain-containing protein 1", "protein_names_refseq": "H3-K36-HMTase; H4-K20-HMTase; NR-binding SET domain-containing protein; androgen receptor coactivator 267 kDa protein; androgen receptor-associated coregulator 267; androgen receptor-associated protein of 267 kDa; histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific; histone-lysine N-methyltransferase, H3 lysine-36 specific isoform b; histone-lysine N-methyltransferase, H3 lysine-36 specific; lysine N-methyltransferase 3B; nuclear receptor SET domain-containing protein 1; nuclear receptor-binding SET domain-containing protein 1", "tax_id": 9606, "disease": "Sotos syndrome 1 (Disease Ontology:DOID:0112103); microcephaly (Disease Ontology:DOID:10907); Sotos syndrome (Disease Ontology:DOID:14748); syndrome (Disease Ontology:DOID:225); Beckwith-Wiedemann syndrome (Disease Ontology:DOID:5572); neuroblastoma (Disease Ontology:DOID:769); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:64324); (R-HSA-3214841)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "10949293;11237011;11493482;11509567;11733144;11896389;11959841;12123582;12130538;12453418;12464997;12540855;12670868;12807965;14536086;14690610;14992727;14997421;15145825;15235609;15382262;15964846;16118227;16199523;16292313;16519522;16682010;16805913;17021013;17081983;17487921;17500065;17544230;17707229;18172012;18669648;18987736;19413330;19651622;19664995;19808676;20068231;21131967;21196496;21406692;21779408;21832073;22099308;22939622;23186163;24366607;24397554;24715725;25218447;25418920;25576301;25645385;25880248;26154972;26375851;26992070;27846572;28514659;28832583;28904123;29242379;29493099;29508533;29557506;29786170;29789417;30315122;30379171;30410026;30429286;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33633747;33691108;33912179;33968037;33981976;34087483;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36241641;38684994;39336709", "class_list": "", "function": "Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context., [UniProtKB, PubMed]; Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 152, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q96PD8;Q96RN7", "ec_number_list": [ { "id": "2.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.357", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.354", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.354", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0030331 nuclear estrogen receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0005694 chromosome", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0033135 regulation of peptidyl-serine phosphorylation", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q96L73-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UY8-1", "uniprot_id": [ { "id": "NT5D3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UY8", "type": "external" } ], "mass": 63420.0, "length": 548, "protein_name": "5'-nucleotidase domain-containing protein 3", "gene_name": "NT5DC3", "organism": "Human", "refseq_name": "5'-nucleotidase domain-containing protein 3", "refseq_ac": [ { "id": "NP_001026871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026871", "type": "external" } ], "gene_names_uniprotkb": "NT5DC3; GNN; TU12B1-TY", "gene_names_refseq": "NT5DC3; TU12B1-TY; TU12B1TY", "protein_names_uniprotkb": "5'-nucleotidase domain-containing protein 3; 3.1.3.-; GRP94-neighboring nucleotidase", "protein_names_refseq": "5'-nucleotidase domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:51559)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;15547748;23481700;25892735;26992070;27600516;28228285;28904123;29393594;29557506;29769354;29786170;30315122;30379171;31844290;32157095;32357974;32387766;32897882;32938616;33298915;33537174;33592498;33968037;33981976;34357683;34405274;34509645;34561969;35051231;36010968", "class_list": "", "function": "TU12B1-TY may contribute to the development and/or progression of human pancreatic cancer, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q9NUM7;Q9P2T2;Q9P2T3", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008253 5'-nucleotidase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0043235 receptor complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q86UY8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAT6-1", "uniprot_id": [ { "id": "NPL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAT6", "type": "external" } ], "mass": 68120.0, "length": 608, "protein_name": "Nuclear protein localization protein 4 homolog", "gene_name": "NPLOC4", "organism": "Human", "refseq_name": "nuclear protein localization protein 4 homolog isoform 1", "refseq_ac": [ { "id": "NP_060391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060391", "type": "external" } ], "gene_names_uniprotkb": "NPLOC4; KIAA1499; NPL4", "gene_names_refseq": "NPL4; NPLOC4", "protein_names_uniprotkb": "Nuclear protein localization protein 4 homolog; Protein NPL4", "protein_names_refseq": "NPLOC4 ubiquitin recognition factor; nuclear protein localization 4 homolog; nuclear protein localization protein 4 homolog isoform 1; nuclear protein localization protein 4 homolog", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:55666); (R-HSA-110320); (R-HSA-8951664); (R-HSA-9755511); (R-HSA-9918487); (R-HSA-9954709)", "pathway_count": 6, "publication_count": 255, "publication_id_list": "10535940;10597293;10801132;10811609;10856253;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11574150;11585840;11733065;11961546;12101228;12186903;12198130;12504025;12504026;12526791;12538644;12609982;12665801;12682069;12700136;12759363;12816948;14517290;14585973;14688281;14690597;14757770;14764894;15149598;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15983046;16139798;16171779;16286508;16359182;16401342;16547496;16647857;16707496;16790436;16943200;16962933;17081101;17132228;17183367;17220875;17331469;17332328;17497243;17512459;17785452;17979524;18093314;18206966;18238777;18273910;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;20008555;20068231;20159558;20378532;20452972;20495340;21220506;21391649;21447816;21463634;21734707;21778237;21791603;21863050;21940857;22306028;22466964;22537386;22681887;22789539;22872865;22902628;22959436;23042605;23042607;23201271;23274085;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23685075;23912815;23986495;24011591;24076655;24160817;24298019;24366543;24636985;24715725;24768535;24793695;24793696;24958902;25040165;25132172;25314029;25349211;25355947;25418920;25531226;25576301;25578875;25645385;25793262;25892735;25921531;26024233;26117325;26344709;26460955;26471729;26583321;26632597;26735137;26906416;26942676;26992070;27030794;27222660;27565346;27600516;27846572;27920218;28063628;28115426;28218747;28228285;28380357;28467828;28514659;28832583;28904123;29117567;29153394;29233872;29242379;29393594;29437277;29450944;29493099;29508533;29526543;29557506;29632046;29632312;29769354;29786170;29789417;30244831;30315122;30410026;30429286;30484775;30610225;30779550;30833945;31011209;31154438;31217245;31530632;31546975;31844290;31848261;32005965;32157095;32265295;32284348;32293500;32387766;32488085;32502341;32640524;32672401;32890404;32938616;32983136;33009401;33298915;33406423;33444648;33592498;33633747;33691108;33717175;33791708;33859744;33909987;33912179;33968037;33981976;34019948;34171305;34357683;34405274;34509645;34696522;34725712;35051231;35318648;35580925;35585045;35920641;36010968;36087575;36215666;36241641;37676773;37993584;38177122;38253038;38665916;40596516;40914422;9790970;9887101;9891082", "class_list": "", "function": "Multiple UBX proteins reduce the ubiquitin threshold of the mammalian p97-UFD1-NPL4 unfoldase. Publication Status: Online-Only, [RefSeq, PubMed]; NPLOC4 is a potential target and a poor prognostic signature in lung squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis for the interaction between human Npl4 and Npl4-binding motif of human Ufd1., [RefSeq, PubMed]; The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and UFD1, which binds to RIGI and recruits RNF125 to promote ubiquitination and degradation of RIGI (PubMed:26471729)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; Ufd1-Npl4 is a negative regulator of retrotranslocation, delaying the retrotranslocation of endoplasmic reticulum-associated degradation substrates independently of its association with VCP, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8N3J1;Q9H8V2;Q9H964;Q9NWR5;Q9P229", "ec_number_list": [], "go_molecular_function": "GO:0036435 K48-linked polyubiquitin modification-dependent protein binding;GO:0008270 zinc ion binding;GO:0051117 ATPase binding;GO:0031625 ubiquitin protein ligase binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0036503 ERAD pathway;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 25.8, "record_id": "Q8TAT6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "E9PQ53-1", "uniprot_id": [ { "id": "NDUCR_HUMAN", "url": "https://www.uniprot.org/uniprot/E9PQ53", "type": "external" } ], "mass": 13408.0, "length": 114, "protein_name": "NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2", "gene_name": "NDUFC2-KCTD14", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2 isoform 2", "refseq_ac": [ { "id": "NP_001190190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190190", "type": "external" } ], "gene_names_uniprotkb": "NDUFC2-KCTD14", "gene_names_refseq": "NDUFC2-KCTD14", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2; NDUFC2-KCTD14 readthrough transcript protein", "protein_names_refseq": "NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2 isoform 2; NADH dehydrogenase [ubiquinone] 1 subunit C2; NDUFC2-KCTD14 readthrough transcript protein", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061)", "pathway": " (hsa:100532726)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;27846572;28904123;29557506;30315122;30410026;30429286;31844290;32157095;32387766;32897882;32938616;32983136;33298915;33537174;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;35051231;35561310;35580925;36010968;36241641", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)., [UniProtKB]; This locus represents naturally occurring read-through transcription between the neighboring NDUFC2 (NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa) and KCTD14 (potassium channel tetramerisation domain containing 14) genes on chromosome 11. The read-through transcripts share sequence identity with the upstream gene product and one variant has a frameshifted C-terminal region derived from the downstream gene exons. [provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "E9PQ53-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0J1-1", "uniprot_id": [ { "id": "PDP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0J1", "type": "external" } ], "mass": 61054.0, "length": 537, "protein_name": "[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial", "gene_name": "PDP1", "organism": "Human", "refseq_name": "pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 2", "refseq_ac": [ { "id": "NP_001155251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155251", "type": "external" } ], "gene_names_uniprotkb": "PDP1; PDP; PPM2C", "gene_names_refseq": "PDH; PDP1; PDPC 1; PDPC; PDP; PPM2A; PPM2C", "protein_names_uniprotkb": "[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial; 3.1.3.43; PDP 1; PDPC 1; Protein phosphatase 2C; Pyruvate dehydrogenase phosphatase catalytic subunit 1", "protein_names_refseq": "[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial; protein phosphatase 2C, magnesium-dependent, catalytic subunit; protein phosphatase, Mg2+/Mn2+ dependent 2A; pyruvate dehydrogenase (Lipoamide) phosphatase-phosphatase; pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 2; pyruvate dehyrogenase phosphatase catalytic subunit 1", "tax_id": 9606, "disease": "pyruvate decarboxylase deficiency (Disease Ontology:DOID:3649); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:54704); (R-HSA-204174)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10931946;11237011;11327815;11485553;11486000;1327585;15554715;15855260;172850;17532339;17544412;19184109;19608861;19833728;20884751;22869377;23481700;24486017;24962578;25525879;25576301;25645385;25892735;26154972;27846572;27920218;28595656;29242379;29351928;29371260;29393594;29508533;29557506;29769354;29786170;29789417;29930882;30192525;30779550;31154438;31848261;32157095;32488085;32782783;32938616;32983136;33141586;33298915;33392160;33717175;33936100;33968037;33981976;34489398;35051231;35318648;35494241;35580925;36010968;36241641;37935978;37938771;38566355;38849010;7499431;8798399;9395502;9405293;9651365;9710704;9815194", "class_list": "", "function": "In cultured skin fibroblasts from three patients with congenital lactic acidemia due to a defect in activation of the pyruvate dehydrogenase complex, the PDP-activity was significantly reduced to 50.7%, 64.6% and 63.1% of that of control fibroblasts., [RefSeq, PubMed]; In postmortem tissue samples, from male child with metabolic acidosis, PDK normally reduced PDH-activity in ATP-presence. Addition of Ca++ and Mg++ did not restored PDH-activity. The defect was attributed to a markedly reduced PDP-activity., [RefSeq, PubMed]; Mitochondrial dysfunction induces radioresistance in colorectal cancer by activating [Ca(2+)]m-PDP1-PDH-histone acetylation retrograde signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial enzyme that catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (PDC), thereby stimulating the conversion of pyruvate into acetyl-CoA., [UniProtKB, PubMed, PubMed]; PDP1 is a key metabolic gatekeeper and modulator of drug resistance in FLT3-ITD-positive acute myeloid leukemia., [RefSeq, PubMed]; PDP1 promotes KRAS mutant colorectal cancer progression by serving as a scaffold for BRAF and MEK1., [RefSeq, PubMed]; PDP1 promotes the progression of breast cancer through STAT3 pathway., [RefSeq, PubMed]; Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KX71;J3KPU0;Q5U5K1", "ec_number_list": [ { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.12", "type": "external" }, { "id": "3.1.3.43", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.43", "type": "external" } ], "go_molecular_function": "GO:0004741 [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity;GO:0046872 metal ion binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0043169 cation binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0035970 peptidyl-threonine dephosphorylation;GO:0140176 positive regulation of pyruvate decarboxylation to acetyl-CoA", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9P0J1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VT03-1", "uniprot_id": [ { "id": "NTM2D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VT03", "type": "external" } ], "mass": 86276.0, "length": 806, "protein_name": "NUT family member 2D", "gene_name": "NUTM2D", "organism": "Human", "refseq_name": "NUT family member 2D isoform 1", "refseq_ac": [ { "id": "NP_001369233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001369233", "type": "external" } ], "gene_names_uniprotkb": "NUTM2D; FAM22D", "gene_names_refseq": "FAM22D; NUTM2D", "protein_names_uniprotkb": "NUT family member 2D", "protein_names_refseq": "NUT family member 2A pseudogene; NUT family member 2D isoform 1; family with sequence similarity 22, member D; protein FAM22D", "tax_id": 9606, "disease": "", "pathway": " (hsa:728130)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;30379171;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A6NGV9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5VT03-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UND3-1", "uniprot_id": [ { "id": "NPIA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UND3", "type": "external" } ], "mass": 40133.0, "length": 350, "protein_name": "Nuclear pore complex-interacting protein family member A1", "gene_name": "NPIPA1", "organism": "Human", "refseq_name": "nuclear pore complex-interacting protein family member A2 isoform 2", "refseq_ac": [ { "id": "NP_001264253", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264253", "type": "external" } ], "gene_names_uniprotkb": "NPIPA1; NPIP", "gene_names_refseq": "NPIPA2; NPIP", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member A1; NPIP; Nuclear pore complex-interacting protein", "protein_names_refseq": "nuclear pore complex-interacting protein family member A2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:642799); (hsa:9284)", "pathway_count": 2, "publication_count": 2, "publication_id_list": "11237011;11586358", "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": 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": "O15102", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005643 nuclear pore;GO:0031965 nuclear membrane", "go_biological_process": "GO:0015031 protein transport;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9UND3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06454-1", "uniprot_id": [ { "id": "PTMA_HUMAN", "url": "https://www.uniprot.org/uniprot/P06454", "type": "external" } ], "mass": 12203.0, "length": 111, "protein_name": "Prothymosin alpha", "gene_name": "PTMA", "organism": "Human", "refseq_name": "prothymosin alpha isoform 1", "refseq_ac": [ { "id": "NP_001092755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092755", "type": "external" } ], "gene_names_uniprotkb": "PTMA; TMSA", "gene_names_refseq": "PTMA; TMSA", "protein_names_uniprotkb": "Prothymosin alpha", "protein_names_refseq": "gene sequence 28; prothymosin alpha isoform 1; prothymosin alpha protein; prothymosin-I+/-", "tax_id": 9606, "disease": "polycystic kidney disease (Disease Ontology:DOID:0080322); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:5757)", "pathway_count": 1, "publication_count": 90, "publication_id_list": "11237011;1426245;16478804;17081983;18669648;19369195;19413330;19608861;19651622;19690332;20068231;21406692;22115779;22223895;23186163;23831611;24366607;24714562;24715725;25502872;25505266;25576301;26154972;26375851;2708378;27600516;2785990;27920218;28218747;28228285;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29786170;29789417;30315122;30429286;30444036;30833945;31154438;31217245;31222486;31530632;31611695;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32938750;32983136;33091337;33592498;33691108;33872798;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34558643;34561969;3466166;3467312;34932366;35154160;35157519;35251023;35318648;3532956;35561310;35580925;36284347;37531416;38665916;41350704;7916742;8485135;9099694", "class_list": "", "function": "LncRNA cytoskeleton regulator reduces nonsmall cell lung cancer radiosensitivity by downregulating miRNA206 and activating prothymosin alpha., [RefSeq, PubMed]; Prothymosin Alpha: A Novel Contributor to Estradiol Receptor Alpha-Mediated CD8(+) T-Cell Pathogenic Responses and Recognition of Type 1 Collagen in Rheumatic Heart Valve Disease., [RefSeq, PubMed]; Prothymosin alpha may mediate immune function by conferring resistance to certain opportunistic infections., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Prothymosin alpha promotes colorectal carcinoma chemoresistance through inducing lipid droplet accumulation., [RefSeq, PubMed]; Single-cell transcriptomics identifies prothymosin alpha restriction of HIV-1 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q15249;Q15592", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0042393 histone binding;GO:0140297 DNA-binding transcription factor binding;GO:0140713 histone chaperone activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0043066 negative regulation of apoptotic process;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "P06454-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULB1-1", "uniprot_id": [ { "id": "NRX1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULB1", "type": "external" } ], "mass": 161883.0, "length": 1477, "protein_name": "Neurexin-1", "gene_name": "NRXN1", "organism": "Human", "refseq_name": "neurexin-1 isoform alpha5 precursor", "refseq_ac": [ { "id": "NP_001317011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317011", "type": "external" } ], "gene_names_uniprotkb": "NRXN1; KIAA0578", "gene_names_refseq": "Hs.22998; NRXN1; PTHSL2; SCZD17", "protein_names_uniprotkb": "Neurexin-1; Neurexin I-alpha; Neurexin-1-alpha", "protein_names_refseq": "neurexin I; neurexin-1 isoform alpha5 precursor", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); Pitt-Hopkins-like syndrome 2 (Disease Ontology:DOID:0111332); transient cerebral ischemia (Disease Ontology:DOID:224); schizophrenia (Disease Ontology:DOID:5419); schizophrenia 17 (MONDO:MONDO:0800358)", "pathway": " (hsa:9378); (R-HSA-3000171); (R-HSA-6794361)", "pathway_count": 3, "publication_count": 54, "publication_id_list": "11230166;11237011;11604393;11847221;11944992;15540461;16242404;16624946;16806867;16846852;17897391;18084303;18179900;18423203;18812509;18829961;19413330;19896112;20064387;20064388;20090838;20519524;21282647;21424692;22892527;25352602;25378172;26758079;27418511;28121444;29557506;29741879;30379171;31154438;32488085;32983136;33968037;35051231;35101781;35494241;35580925;35627176;37074911;37217939;37355690;7695896;7736595;8576240;9069287;9659899;9659900;9808458;9921901;9927700", "class_list": "", "function": "Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)-triggered exocytosis of secretory granules in pituitary gland. They may affect their functions at synapses and in endocrine cells via their interactions with proteins from the exocytotic machinery. Likewise, alpha-type isoforms play a role in regulating the activity of postsynaptic NMDA receptors, a subtype of glutamate-gated ion channels. Both alpha-type and beta-type isoforms may play a role in the formation or maintenance of synaptic junctions via their interactions (via the extracellular domains) with neuroligin family members, CBLN1 or CBLN2. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Alpha-type isoforms were first identified as receptors for alpha-latrotoxin from spider venom., [UniProtKB, UniProtKB]; Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure. Publication Status: Online-Only, [RefSeq, PubMed]; Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings., [RefSeq, PubMed]; Neuronal cell surface protein involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins (By similarity). Plays a role in formation of synaptic junctions (By similarity). Functions as part of a trans-synaptic complex by binding to cerebellins and postsynaptic GRID1. This interaction helps regulate the activity of NMDA and AMPA receptors at hippocampal synapses without affecting synapse formation. NRXN1B-CBLN2-GRID1 complex transduce presynaptic signals into postsynaptic NMDAR response (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 101, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 5, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A7KRL9;E7ERL8;O60323;Q53TJ9;Q53TQ1;Q5HYI0;Q9C079;Q9C080;Q9C081;Q9H3M2;Q9UDM6", "ec_number_list": [], "go_molecular_function": "GO:0005105 type 1 fibroblast growth factor receptor binding;GO:0004888 transmembrane signaling receptor activity;GO:0005102 signaling receptor binding;GO:0046872 metal ion binding;GO:0048306 calcium-dependent protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0097112 gamma-aminobutyric acid receptor clustering;GO:0090126 protein-containing complex assembly involved in synapse maturation;GO:0097091 synaptic vesicle clustering;GO:0097116 gephyrin clustering involved in postsynaptic density assembly;GO:0097117 guanylate kinase-associated protein clustering", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9ULB1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2S2-1", "uniprot_id": [ { "id": "NRX2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2S2", "type": "external" } ], "mass": 184982.0, "length": 1712, "protein_name": "Neurexin-2", "gene_name": "NRXN2", "organism": "Human", "refseq_name": "neurexin-2-beta isoform alpha-1 precursor", "refseq_ac": [ { "id": "NP_055895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055895", "type": "external" } ], "gene_names_uniprotkb": "NRXN2; KIAA0921", "gene_names_refseq": "NRXN2", "protein_names_uniprotkb": "Neurexin-2; Neurexin II-alpha; Neurexin-2-alpha", "protein_names_refseq": "neurexin II; neurexin-2-beta isoform alpha-1 precursor", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:9379); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "11237011;11604393;15540461;16242404;16624946;16846852;17897391;18812509;18829961;20064387;20064388;20519524;21282647;25378172;28411811;30459171;30779550;31020640;32099033;32387766;34126933;34777568;35051231;36242655;37074911;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; NRXN2 Possesses a Tumor Suppressor Potential via Inhibiting the Growth of Thyroid Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Neurexin 2 p.G849D variant, implicated in Parkinson's disease, increases reactive oxygen species, and reduces cell viability and mitochondrial membrane potential in SH-SY5Y cells., [RefSeq, PubMed]; Neuronal cell surface protein that may be involved in cell recognition and cell adhesion., [UniProtKB]; Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010]., [RefSeq]; Translational Inhibition of alpha-Neurexin 2. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 3, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 77, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A7E2C1;Q9Y2D6", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0046872 metal ion binding;GO:0050839 cell adhesion molecule binding;GO:0097109 neuroligin family protein binding;GO:0005246 calcium channel regulator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042734 presynaptic membrane;GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0098820 trans-synaptic protein complex", "go_biological_process": "GO:0007165 signal transduction;GO:0007158 neuron cell-cell adhesion;GO:0097116 gephyrin clustering involved in postsynaptic density assembly;GO:0097104 postsynaptic membrane assembly;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9P2S2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SE8-1", "uniprot_id": [ { "id": "NPM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SE8", "type": "external" } ], "mass": 24152.0, "length": 214, "protein_name": "Nucleoplasmin-2", "gene_name": "NPM2", "organism": "Human", "refseq_name": "nucleoplasmin-2 isoform 1", "refseq_ac": [ { "id": "NP_001273609", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273609", "type": "external" } ], "gene_names_uniprotkb": "NPM2", "gene_names_refseq": "NPM2", "protein_names_uniprotkb": "Nucleoplasmin-2", "protein_names_refseq": "nucleoplasmin-2 isoform 1; nucleoplasmin-2", "tax_id": 9606, "disease": "primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:10361); (R-HSA-9821993)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "11237011;12209603;12714744;17187372;19491193;20508983;21863821;22362753;35254053;36280841;36963620", "class_list": "", "function": "Core histones chaperone involved in chromatin reprogramming, especially during fertilization and early embryonic development. Probably involved in sperm DNA decondensation during fertilization., [UniProtKB, PubMed]; Core histones chaperone involved in chromatin reprogramming, specially during fertilization and early embryonic development. Probably involved in sperm DNA decondensation during fertilization., [UniProtKB, UniProtKB, UniProtKB]; Expression of NPM2 in HeLa cells, [RefSeq, PubMed]; Hexavalent chromium causes centrosome amplification by inhibiting the binding between TMOD2 and NPM2., [RefSeq, PubMed]; Loss of NPM2 expression is a potential immunohistochemical marker for malignant peritoneal mesothelioma: a single-center study of 92 cases. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Promoter methylation and differential gene expression of five markers: COL1A2, NPM2, HSPB6, DDIT4L and MT1G were validated by sequencing of bisulfite-modified DNA and real-time reverse transcriptase PCR, 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": 4, "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": "B3KSU0;D3DSQ8;Q6NVH6", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0045836 positive regulation of meiotic nuclear division;GO:0009994 oocyte differentiation;GO:0006338 chromatin remodeling;GO:0007338 single fertilization;GO:0007096 regulation of exit from mitosis", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q86SE8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15573-1", "uniprot_id": [ { "id": "TAF1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15573", "type": "external" } ], "mass": 52676.0, "length": 450, "protein_name": "TATA box-binding protein-associated factor RNA polymerase I subunit A", "gene_name": "TAF1A", "organism": "Human", "refseq_name": "TATA box-binding protein-associated factor RNA polymerase I subunit A isoform 1", "refseq_ac": [ { "id": "NP_001188465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188465", "type": "external" } ], "gene_names_uniprotkb": "TAF1A", "gene_names_refseq": "MGC:17061; RAFI48; SL1; TAF1A; TAFI48", "protein_names_uniprotkb": "TATA box-binding protein-associated factor RNA polymerase I subunit A; RNA polymerase I-specific TBP-associated factor 48 kDa; TAFI48; TATA box-binding protein-associated factor 1A; TBP-associated factor 1A; Transcription factor SL1; Transcription initiation factor SL1/TIF-IB subunit A", "protein_names_refseq": "RNA polymerase I-specific TBP-associated factor 48 kDa; SL1, 48kD subunit; TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD; TATA box-binding protein-associated factor 1A; TATA box-binding protein-associated factor RNA polymerase I subunit A isoform 1; TATA-box binding protein associated factor, RNA polymerase I, A; TBP-associated factor 1A; transcription factor SL1; transcription initiation factor SL1/TIF-IB subunit A", "tax_id": 9606, "disease": "", "pathway": " (hsa:9015); (R-HSA-427359); (R-HSA-427413); (R-HSA-5250924); (R-HSA-73762); (R-HSA-73772); (R-HSA-73863)", "pathway_count": 7, "publication_count": 72, "publication_id_list": "10082553;10471499;10913176;11237011;11250901;11250903;11283244;12393749;12646563;14610093;14969726;15469825;1547496;15558034;15970593;16514417;16603771;17318177;17355984;18485871;19838300;20075868;21559432;22805593;23481700;23555303;23667505;23897426;24901984;24952918;25418920;25576301;25880248;25916849;26154972;26992070;27418187;27418309;27846572;27920218;2805069;28218747;28832583;28904123;29242379;29393594;29437277;29557506;29632046;30410026;30429286;31530632;31844290;31848261;32157095;32265295;32357974;32432789;32488085;32502341;32938616;33141586;33592498;33912179;33936100;33968037;35051231;36010968;7491500;7597036;7801123;9582279", "class_list": "", "function": "Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; TNFAIP8 regulates cisplatin resistance through TAF-Ialpha and promotes malignant progression of esophageal cancer., [RefSeq, PubMed]; This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RDZ8;D3DTB7;Q9NWA1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005668 RNA polymerase transcription factor SL1 complex;GO:0005654 nucleoplasm;GO:0000120 RNA polymerase I transcription regulator complex", "go_biological_process": "GO:0006360 transcription by RNA polymerase I;GO:0006355 regulation of DNA-templated transcription;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q15573-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92823-1", "uniprot_id": [ { "id": "NRCAM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92823", "type": "external" } ], "mass": 143890.0, "length": 1304, "protein_name": "Neuronal cell adhesion molecule", "gene_name": "NRCAM", "organism": "Human", "refseq_name": "neuronal cell adhesion molecule isoform A precursor", "refseq_ac": [ { "id": "NP_001032209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032209", "type": "external" } ], "gene_names_uniprotkb": "NRCAM; KIAA0343", "gene_names_refseq": "NEDNMS; NRCAM", "protein_names_uniprotkb": "Neuronal cell adhesion molecule; Neuronal surface protein Bravo; Ng-CAM-related; NgCAM-related cell adhesion molecule; Nr-CAM; hBravo", "protein_names_refseq": "NgCAM-related cell adhesion molecule; neuronal cell adhesion molecule isoform A precursor; neuronal surface protein Bravo", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); MASA syndrome (Disease Ontology:DOID:0060246); epilepsy (Disease Ontology:DOID:1826); neurodevelopmental disorder with neuromuscular and skeletal abnormalities (MONDO:MONDO:0859236)", "pathway": " (hsa:4897); (R-HSA-445095); (R-HSA-447038); (R-HSA-447043)", "pathway_count": 4, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;11152476;11222639;11237011;11483367;15565337;16335952;16597699;16904324;16959974;17223356;19139490;19159218;23090970;23345538;23897819;24023801;24190977;24366607;25418920;25502872;25645385;27090790;27424145;27846572;27920218;28218747;28228285;28904123;29242379;29308320;29391424;29437277;29557506;29741879;30410026;30459171;31844290;32350084;33141586;33298915;33592498;33912179;33968037;34171305;34357683;35051231;35108495;35154160;35251023;35494241;35763884;36181733;36228153;37074911;37993901;38485895;8812479;8922386;9371782;9804856", "class_list": "", "function": "Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts between Schwann cells and axons. Plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with GLDN, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; CircNRCAM up-regulates NRCAM to promote papillary thyroid carcinoma progression., [RefSeq, PubMed]; Liver cancer stem cell dissemination and metastasis: uncovering the role of NRCAM in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; NRCAM acts as a prognostic biomarker and promotes the tumor progression in gastric cancer via EMT pathway., [RefSeq, PubMed]; Stress-induced headache in the general working population is moderated by the NRCAM rs2300043 genotype. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 6, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 13, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 14, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 15, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 15, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 75, "reported_interactions": 0, "missing_score": 8621, "biomarker_type": "", "glycan_count": 72, "disease_count": 4, "glyco_site_count": 23, "binding_glycan_count": 0, "secondary_ac_list": "A4D0S3;E9PDA4;O15051;O15179;Q14BM2;Q9UHI3;Q9UHI4", "ec_number_list": [], "go_molecular_function": "GO:0030506 ankyrin binding;GO:0098632 cell-cell adhesion mediator activity;GO:0086080 protein binding involved in heterotypic cell-cell adhesion", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0005929 cilium", "go_biological_process": "GO:0001525 angiogenesis;GO:0007409 axonogenesis;GO:0045666 positive regulation of neuron differentiation;GO:0001764 neuron migration;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q92823-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZWH5-1", "uniprot_id": [ { "id": "NEK10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZWH5", "type": "external" } ], "mass": 133259.0, "length": 1172, "protein_name": "Serine/threonine-protein kinase Nek10", "gene_name": "NEK10", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Nek10 isoform 1", "refseq_ac": [ { "id": "NP_001026911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026911", "type": "external" } ], "gene_names_uniprotkb": "NEK10", "gene_names_refseq": "CILD44; NEK10", "protein_names_uniprotkb": "Serine/threonine-protein kinase Nek10; 2.7.11.1; Never in mitosis A-related kinase 10; NimA-related protein kinase 10", "protein_names_refseq": "NIMA (never in mitosis gene a)- related kinase 10; never in mitosis A-related kinase 10; nimA-related protein kinase 10; serine/threonine-protein kinase Nek10 isoform 1; serine/threonine-protein kinase Nek10", "tax_id": 9606, "disease": "primary ciliary dyskinesia 44 (Disease Ontology:DOID:0111851)", "pathway": " (hsa:152110)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;17344846;19330027;20956560;24715725;26811146;28411811;29393594;29557506;30484775;31124786;31959991;32414360;32561851;32938616;33141586;34171305;35051231;35494241;35580925;37217939;38683979", "class_list": "", "function": "Analysis of a bronchiectasis syndrome caused by mutations that inactivate NIMA-related kinase 10 (NEK10), a protein kinase with previously unknown in vivo functions in mammals Erratum:[Nat Med. 2020 Feb;26(2):300. doi: 10.1038/s41591-020-0773-z. PMID: 31996837], [RefSeq, PubMed]; Beta-catenin turnover is regulated by Nek10-mediated tyrosine phosphorylation in A549 lung adenocarcinoma cells., [RefSeq, PubMed]; Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report. Publication Status: Online-Only, [RefSeq, PubMed]; NEK10 tyrosine phosphorylates p53 and controls its transcriptional activity., [RefSeq, PubMed]; Nek10 physically associated with Raf-1 and MEK1 in a Raf-1-dependent manner, and the formation of this complex was necessary for Nek10-mediated MEK1 activation., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in the cellular response to UV irradiation. Mediates G2/M cell cycle arrest, MEK autoactivation and ERK1/2-signaling pathway activation in response to UV irradiation. In ciliated cells of airways, it is involved in the regulation of mucociliary transport (PubMed:31959991)., [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": 2, "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": "A8MWG1;B9ZVR0;Q45VJ4;Q6ZR11;Q7Z671;Q86XB1;Q96MB3", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:1902911 protein kinase complex", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0043406 positive regulation of MAP kinase activity;GO:0070372 regulation of ERK1 and ERK2 cascade;GO:0031954 positive regulation of protein autophosphorylation;GO:1902749 regulation of cell cycle G2/M phase transition", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q6ZWH5-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y328-1", "uniprot_id": [ { "id": "NSG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y328", "type": "external" } ], "mass": 19085.0, "length": 171, "protein_name": "Neuronal vesicle trafficking-associated protein 2", "gene_name": "NSG2", "organism": "Human", "refseq_name": "neuronal vesicle trafficking-associated protein 2", "refseq_ac": [ { "id": "NP_057064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057064", "type": "external" } ], "gene_names_uniprotkb": "NSG2; CALY3", "gene_names_refseq": "CALY3; HMP19; NSG2", "protein_names_uniprotkb": "Neuronal vesicle trafficking-associated protein 2; Hmp19; Neuron-specific protein family member 2; Protein p19", "protein_names_refseq": "calcyon family member 3; hypothalamus golgi apparatus expressed 19 kDa protein; neuron-specific protein family member 2; neuronal vesicle trafficking-associated protein 2; p19 protein; protein p19", "tax_id": 9606, "disease": "", "pathway": " (hsa:51617)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "10931946;11237011;28411811;30680309", "class_list": "", "function": "Found in discrete punctae restricted to the somatodendritic arbors of developing mouse and human neurons, and a significant proportion of NSG2 punctae colocalize with postsynaptic HOMER1 and surface-expressed AMPA-type glutamate receptors (AMPARs) at excitatory synapses. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "B2R5Y0;D3DQN0;Q9UHX8", "ec_number_list": [], "go_molecular_function": "GO:0032051 clathrin light chain binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:1990674 Golgi cis cisterna membrane;GO:0005768 endosome;GO:0005769 early endosome;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0016197 endosomal transport;GO:0048268 clathrin coat assembly;GO:0099072 regulation of postsynaptic membrane neurotransmitter receptor levels", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9Y328-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBG0-1", "uniprot_id": [ { "id": "MRC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBG0", "type": "external" } ], "mass": 166674.0, "length": 1479, "protein_name": "C-type mannose receptor 2", "gene_name": "MRC2", "organism": "Human", "refseq_name": "C-type mannose receptor 2 precursor", "refseq_ac": [ { "id": "NP_006030", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006030", "type": "external" } ], "gene_names_uniprotkb": "MRC2; CLEC13E; ENDO180; KIAA0709; UPARAP", "gene_names_refseq": "CD280; CLEC13E; ENDO180; MRC2; UPARAP", "protein_names_uniprotkb": "C-type mannose receptor 2; C-type lectin domain family 13 member E; Endocytic receptor 180; Macrophage mannose receptor 2; UPAR-associated protein; Urokinase receptor-associated protein; Urokinase-type plasminogen activator receptor-associated protein", "protein_names_refseq": "C-type lectin domain family 13 member E; C-type mannose receptor 2 precursor; UPAR-associated protein; endocytic receptor (macrophage mannose receptor family); endocytic receptor 180; macrophage mannose receptor 2; urokinase-type plasminogen activator receptor-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9902); (R-HSA-1236978)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10636902;10683150;11120831;11237011;12061891;12068012;12399458;12972549;15489334;15592474;16625196;16818754;18249105;19139490;19159218;19317650;20028659;20388717;23090970;23345538;23481700;23584533;24190977;24715725;25944712;26481812;26992070;29061505;29242379;29557506;29741879;29786170;30366943;30429286;30484775;31376337;31611695;31844290;32072971;32157095;32350084;32387766;32897882;32938616;32983136;33043033;33141586;33214551;33392160;33592498;33968037;34012764;34019948;34725712;34768883;35051231;35154160;35251023;35289036;35580925;37074911;38665916;7904248;8702911;9192860;9734811", "class_list": "glycogene", "function": "MRC2 Promotes Proliferation and Inhibits Apoptosis of Diabetic Nephropathy. Publication Status: Online-Only, [RefSeq, PubMed]; Mathematical modelling of the role of Endo180 network in the development of metastatic bone disease in prostate cancer., [RefSeq, PubMed]; May play a role as endocytotic lectin receptor displaying calcium-dependent lectin activity. Internalizes glycosylated ligands from the extracellular space for release in an endosomal compartment via clathrin-mediated endocytosis. May be involved in plasminogen activation system controlling the extracellular level of PLAUR/PLAU, and thus may regulate protease activity at the cell surface. May contribute to cellular uptake, remodeling and degradation of extracellular collagen matrices. May play a role during cancer progression as well as in other chronic tissue destructive diseases acting on collagen turnover. May participate in remodeling of extracellular matrix cooperating with the matrix metalloproteinases (MMPs)., [UniProtKB, PubMed, PubMed]; The Collagen Receptor uPARAP in Malignant Mesothelioma: A Potential Diagnostic Marker and Therapeutic Target. Publication Status: Online-Only, [RefSeq, PubMed]; These results indicate that a substance secreted from UVB-exposed keratinocytes regulates Endo180 expression and that IL-1alpha may play an important role in the maintenance of Endo180., [RefSeq, PubMed]; This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]., [RefSeq]", "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": 5, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 1734, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 50, "disease_count": 0, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "A6H8K4;D3DU08;Q7LGE7;Q9Y5P9", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005518 collagen binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0006898 receptor-mediated endocytosis;GO:0001649 osteoblast differentiation;GO:0030574 collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q9UBG0-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000011000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96D46-1", "uniprot_id": [ { "id": "NMD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96D46", "type": "external" } ], "mass": 57603.0, "length": 503, "protein_name": "60S ribosomal export protein NMD3", "gene_name": "NMD3", "organism": "Human", "refseq_name": "60S ribosomal export protein NMD3 isoform 2", "refseq_ac": [ { "id": "NP_057022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057022", "type": "external" } ], "gene_names_uniprotkb": "NMD3; CGI-07", "gene_names_refseq": "CGI-07; NMD3", "protein_names_uniprotkb": "60S ribosomal export protein NMD3; hNMD3", "protein_names_refseq": "60S ribosomal export protein NMD3 isoform 2; 60S ribosomal export protein NMD3; NMD3 homolog; hNMD3", "tax_id": 9606, "disease": "", "pathway": " (hsa:51068)", "pathway_count": 1, "publication_count": 106, "publication_id_list": "11237011;12724356;12773398;17081983;18077418;18452278;18669648;19413330;19415658;19651622;19690332;19691289;20068231;20112406;21406692;21654843;23186163;23481700;23782956;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26811146;26929215;26992070;27397612;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29564728;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32669547;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33968037;34087483;34211107;34357683;34932366;35051231;35138101;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771", "class_list": "", "function": "Acts as an adapter for the XPO1/CRM1-mediated export of the 60S ribosomal subunit., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Contains a CRM-1-dependent leucine-rich nuclear export signal and a complex, dispersed nuclear localization signal (NMD3), [RefSeq, PubMed]; Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016]., [RefSeq]; The CRM1 and NMD3 have complex functions in pathways that couple rRNA synthetic and processing engines and that the rRNA synthesis rate may be adjusted according to proficiency in rRNA processing and export., [RefSeq, PubMed]; The presence of the rs34016896 allele in the NMD3 gene may contribute to the development of synucleinopathies., [RefSeq, PubMed]; The recessive and overdominant model of NMD3 rs34016896 was associated with cognitive impairment in Parkinson's disease patients. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 5, "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": "D3DNM7;Q9Y2Z6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0030674 protein-macromolecule adaptor activity;GO:0043023 ribosomal large subunit binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0000055 ribosomal large subunit export from nucleus;GO:0015031 protein transport;GO:1902680 positive regulation of RNA biosynthetic process;GO:1904751 positive regulation of protein localization to nucleolus", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q96D46-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z2Y5-1", "uniprot_id": [ { "id": "NRK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z2Y5", "type": "external" } ], "mass": 178479.0, "length": 1582, "protein_name": "Nik-related protein kinase", "gene_name": "NRK", "organism": "Human", "refseq_name": "nik-related protein kinase", "refseq_ac": [ { "id": "NP_940867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940867", "type": "external" } ], "gene_names_uniprotkb": "NRK", "gene_names_refseq": "NESK; NRK", "protein_names_uniprotkb": "Nik-related protein kinase; 2.7.11.1", "protein_names_refseq": "nik-related protein kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:203447)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;17344846;19664995;21406692;25418920;27634343;28218747;29557506;30059200;30779550;31844290;32157095;32162334;32938616;33387038;33592498;33968037;35051231;35289036;35580925;36241641;37217939;38459501", "class_list": "", "function": "Identification and functional activity of Nik related kinase (NRK) in benign hyperplastic prostate. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a novel therapeutic candidate, NRK, in primary cancer-associated fibroblasts of lung adenocarcinoma microenvironment., [RefSeq, PubMed]; May phosphorylate cofilin-1 and induce actin polymerization through this process, during the late stages of embryogenesis. Involved in the TNF-induced signaling pathway., [UniProtKB, UniProtKB, UniProtKB]; Nik-related kinase is targeted for proteasomal degradation by the chaperone-dependent ubiquitin ligase CHIP., [RefSeq, PubMed]; The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]., [RefSeq]; The results suggest that Nrk suppresses the excessive proliferation of mammary epithelial cells during pregnancy, and the impairment of this regulatory system leads to frequent occurrence of breast tumor in Nrk mutant mice., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q32ND6;Q5H9K2;Q6ZMP2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "", "go_biological_process": "GO:0046330 positive regulation of JNK cascade", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q7Z2Y5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26717-1", "uniprot_id": [ { "id": "NKG2C_HUMAN", "url": "https://www.uniprot.org/uniprot/P26717", "type": "external" } ], "mass": 26159.0, "length": 231, "protein_name": "NKG2-C type II integral membrane protein", "gene_name": "KLRC2", "organism": "Human", "refseq_name": "NKG2-C type II integral membrane protein", "refseq_ac": [ { "id": "NP_002251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002251", "type": "external" } ], "gene_names_uniprotkb": "KLRC2; NKG2C", "gene_names_refseq": "CD159c; KLRC2; NKG2-C; NKG2C", "protein_names_uniprotkb": "NKG2-C type II integral membrane protein; CD159 antigen-like family member C; NK cell receptor C; NKG2-C-activating NK receptor", "protein_names_refseq": "CD159 antigen-like family member C; NK cell receptor C; NKG2-C type II integral membrane protein; NKG2-C-activating NK receptor; killer cell lectin-like receptor subfamily C, member 2; natural killer cell receptor G2-C", "tax_id": 9606, "disease": "", "pathway": " (hsa:3822); (R-HSA-2172127); (R-HSA-2424491)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "10021361;10026222;10049942;10072481;10224278;10449773;10604985;10744696;10811803;10940905;11048639;11094073;11237011;11368773;11390650;11602640;11751968;11907067;12471105;12660731;12668644;12776204;12911816;14707061;15184383;15265913;15365099;15536084;15557162;15884055;15940674;16623599;16920917;16933987;16938345;17012248;17110943;17202323;17483134;17641029;18083576;18624290;18629938;18691974;19592646;19858347;2007850;20093094;20484116;20865034;20890284;20952657;21659545;21825173;2374928;30134159;31154438;35802353;37264229;37901227;39288262;8663278;8702662;8986718;9396765;9486650;9490415;9625766;9655483;9683661;9690470;9754572;9830044", "class_list": "glycogene", "function": "Diversity of NKG2C genotypes in a European population: Conserved and recombinant haplotypes in the coding, promoter, and 3'-untranslated regions., [RefSeq, PubMed]; Immune activating receptor involved in self-nonself discrimination. In complex with KLRD1 on cytotoxic lymphocyte subsets, recognizes non-classical major histocompatibility (MHC) class Ib HLA-E loaded with signal sequence-derived peptides from non-classical MHC class Ib HLA-G molecules, likely playing a role in the generation and effector functions of adaptive natural killer (NK) cells and in maternal-fetal tolerance during pregnancy (PubMed:30134159, PubMed:37264229, PubMed:9754572). Regulates the effector functions of terminally differentiated cytotoxic lymphocyte subsets, and in particular may play a role in adaptive NK cell response to viral infection (PubMed:20952657, PubMed:21825173). Upon HLA-E-peptide binding, transmits intracellular signals via the adapter protein TYROBP/DAP12, triggering the phosphorylation of proximal signaling molecules and cell activation (PubMed:15940674, PubMed:9655483)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NKG2C and NKG2A coexpression defines a highly functional antiviral NK population in spontaneous HIV control. Publication Status: Online-Only, [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 group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Significance of HLA-E and its two NKG2 receptors in development of complications after allogeneic transplantation of hematopoietic stem cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 349, "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": "O43802;Q52M74;Q9NR42", "ec_number_list": [], "go_molecular_function": "GO:0023024 MHC class I protein complex binding;GO:0004888 transmembrane signaling receptor activity;GO:0030246 carbohydrate binding;GO:1990405 protein antigen binding;GO:0062081 activating MHC class Ib receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex;GO:0016020 membrane", "go_biological_process": "GO:0002228 natural killer cell mediated immunity;GO:0007165 signal transduction;GO:0006968 cellular defense response;GO:0002250 adaptive immune response;GO:0043323 positive regulation of natural killer cell degranulation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P26717-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92834-1", "uniprot_id": [ { "id": "RPGR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92834", "type": "external" } ], "mass": 113387.0, "length": 1020, "protein_name": "X-linked retinitis pigmentosa GTPase regulator", "gene_name": "RPGR", "organism": "Human", "refseq_name": "X-linked retinitis pigmentosa GTPase regulator isoform A", "refseq_ac": [ { "id": "NP_000319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000319", "type": "external" } ], "gene_names_uniprotkb": "RPGR; RP3; XLRP3", "gene_names_refseq": "COD1; CORDX1; CRD; PCDX; RP15; RP3; RPGR; XLRP3; orf15", "protein_names_uniprotkb": "X-linked retinitis pigmentosa GTPase regulator", "protein_names_refseq": "X-linked retinitis pigmentosa GTPase regulator isoform A; X-linked retinitis pigmentosa GTPase regulator; retinitis pigmentosa 15; retinitis pigmentosa 3 GTPase regulator", "tax_id": 9606, "disease": "retinitis pigmentosa 3 (Disease Ontology:DOID:0110414); X-linked cone-rod dystrophy 1 (Disease Ontology:DOID:0111008); X-linked retinitis pigmentosa and sinorespiratory infections (Disease Ontology:DOID:0112124); X-linked atrophic macular degeneration (Disease Ontology:DOID:0112157); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:6103)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "10401007;10480356;10482958;10737996;10932196;10937588;10958648;10970770;10980543;11180598;11237011;11702207;11857109;11992260;12140192;12160730;12657579;12920075;14564670;14627685;15772089;16043481;16969763;19430481;20631154;21933838;23186163;23481700;23559067;24981858;25418920;25892735;26992070;27600516;27920218;28218747;28228285;28649982;29242379;29437277;29508533;29557506;29769354;30315122;30379171;30410026;30833945;31154438;31217245;31222486;31530632;31844290;32157095;32938616;32983136;33141586;33392160;33592498;33717175;33912179;33936100;33968037;33981976;35051231;35580925;36010968;37895299;38069202;38534367;38586605;8673101;8817343;9399904;9855162;9990021", "class_list": "", "function": "Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:20631154). GEF activity towards RAB8A may facilitate ciliary trafficking by modulating ciliary intracellular localization of RAB8A (PubMed:20631154). GEF activity towards RAB37 maintains autophagic homeostasis and retinal function (By similarity). Involved in photoreceptor integrity (By similarity). May control cilia formation by regulating actin stress filaments and cell contractility. May be involved in microtubule organization and regulation of transport in primary cilia (PubMed:21933838). May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]., [RefSeq]; Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR[ORF15] Genetic Variants. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1ARN3;E9PE28;O00702;O00737;Q3KN84;Q8N5T6;Q93039;Q9HD29;Q9UMR1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005929 cilium;GO:0036126 sperm flagellum", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007601 visual perception;GO:0060271 cilium assembly;GO:0010508 positive regulation of autophagy;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q92834-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MS0-1", "uniprot_id": [ { "id": "ROBO3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MS0", "type": "external" } ], "mass": 148209.0, "length": 1386, "protein_name": "Roundabout homolog 3", "gene_name": "ROBO3", "organism": "Human", "refseq_name": "roundabout homolog 3 isoform a precursor", "refseq_ac": [ { "id": "NP_071765", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071765", "type": "external" } ], "gene_names_uniprotkb": "ROBO3", "gene_names_refseq": "HGPPS1; HGPPS; HGPS; RBIG1; RIG1; ROBO3", "protein_names_uniprotkb": "Roundabout homolog 3; Roundabout-like protein 3", "protein_names_refseq": "retinoblastoma inhibiting gene 1; roundabout homolog 3 isoform a precursor; roundabout homolog 3; roundabout, axon guidance receptor, homolog 3; roundabout-like protein 3", "tax_id": 9606, "disease": "myoclonic-atonic epilepsy (Disease Ontology:DOID:0060475); gaze palsy, familial horizontal, with progressive scoliosis 1 (MONDO:MONDO:0020790)", "pathway": " (hsa:64221)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;15105459;15824346;16226035;16525029;19690332;25882844;28411811;30192525;30315122;31844290;31848261;32161166;32198364;32580277;32938616;33392160;33981976;35051231;36057630;36149840;36208230;37084487;37330975", "class_list": "", "function": "A Genetic Variant of the ROBO3 Gene is Associated With Adolescent Idiopathic Scoliosis in the Chinese Population., [RefSeq, PubMed]; Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene. Review article, [RefSeq, PubMed]; Here we describe and compare two human Robo3 isoforms, Robo3A and Robo3B, which differ by the insertion of 26 amino acids at the N-terminus, and these forms appear to be evolutionary conserved, [RefSeq, PubMed]; Identified mutations in the ROBO3 gene in patients affected with horizontal gaze palsy with progressive scoliosis (HGPPS);ROBO3 is required for hindbrain axon midline crossing GeneRIF: mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse., [RefSeq, PubMed]; Incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations may be greater than in the general population., [RefSeq, PubMed]; ROBO3s: a novel ROBO3 short isoform promoting breast cancer aggressiveness. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor involved in axon guidance during development (PubMed:15105459). Acts as a multifunctional regulator of pathfinding that simultaneously mediates NELL2 repulsion, inhibits SLIT repulsion, and facilitates Netrin-1/NTN1 attraction. In spinal cord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1/ROBO2. Binding OF NELL2 to the receptor ROBO3 promotes oligomerization of ROBO3, resulting in the repulsion of commissural axons in the midline. ROBO3 also indirectly boosts axon attraction to NTN1 without interacting with NTN1 itself (By similarity)., [UniProtKB, PubMed, UniProtKB]; Receptor involved in axon guidance during development. Acts as a multifunctional regulator of pathfinding that simultaneously mediates NELL2 repulsion, inhibits SLIT repulsion, and facilitates Netrin-1/NTN1 attraction. In spinal cord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1/ROBO2. Binding OF NELL2 to the receptor ROBO3 promotes oligomerization of ROBO3, resulting in the repulsion of commissural axons in the midline. ROBO3 also indirectly boosts axon attraction to NTN1 without interacting with NTN1 itself., [UniProtKB, UniProtKB]; The major clinical characteristics of patients with mutated ROBO3 were horizontal gaze palsy, progressive scoliosis, and brainstem malformations., [RefSeq, PubMed]; This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. [provided by RefSeq, May 2019]., [RefSeq]; Upregulation of ROBO3 promotes proliferation, migration and adhesion of AML cells and affects the survival of AML patients., [RefSeq, PubMed]; [Expression of ROBO3 and Its Effect on Cell Proliferation and Apoptosis in Pediatric Patients with Acute Myeloid Leukemia]., [RefSeq, PubMed]", "predicted_glycosites": 12, "predicted_n_glycosites": 11, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 72, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:0035295 tube development;GO:0006935 chemotaxis;GO:0016199 axon midline choice point recognition;GO:0007420 brain development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96MS0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P4R8-1", "uniprot_id": [ { "id": "NFRKB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P4R8", "type": "external" } ], "mass": 139001.0, "length": 1299, "protein_name": "Nuclear factor related to kappa-B-binding protein", "gene_name": "NFRKB", "organism": "Human", "refseq_name": "nuclear factor related to kappa-B-binding protein isoform 1", "refseq_ac": [ { "id": "NP_001137307", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137307", "type": "external" } ], "gene_names_uniprotkb": "NFRKB; INO80G", "gene_names_refseq": "INO80G; NFRKB", "protein_names_uniprotkb": "Nuclear factor related to kappa-B-binding protein; DNA-binding protein R kappa-B; INO80 complex subunit G", "protein_names_refseq": "DNA-binding protein R kappa B; INO80 complex subunit G; nuclear factor related to kappa-B-binding protein isoform 1; nuclear factor related to kappa-B-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:4798); (R-HSA-5689603); (R-HSA-5696394)", "pathway_count": 3, "publication_count": 144, "publication_id_list": "10391953;11237011;11279143;12732143;12815074;12944386;14742321;15811629;15882621;15964821;16223728;16230350;16473935;16678110;16906146;17081983;17139257;1777480;17882165;18497827;18669648;18922472;19109893;19188440;19608861;19609301;19690332;19815555;20068230;20068231;20305658;20436459;20805357;20855601;21135142;21303910;21388382;21406692;21740066;22118460;22661428;22898188;22984442;23045548;23186163;23301498;23319653;23481700;24275569;24715725;25114211;25218447;2530630;25418920;25576301;25645385;25755297;26154972;26375851;26929215;26992070;27655845;27920218;28063628;28218747;28228285;28446606;28514659;28657654;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29493099;29557506;29632046;29786170;30059200;30192525;30315122;30379171;30429286;30484775;30620550;31217245;31492838;31637018;31844290;32119511;32157095;32265295;32357974;32387766;32574038;32938750;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34171305;34185709;34405274;34509645;34591601;34725712;34846842;35051231;35093437;35132862;35138101;35254053;35289036;35513511;35580925;35705054;36010968;36215666;36240223;37217939;37340703;37541260;37938771;38423196;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;8168482;9528852;9790970", "class_list": "", "function": "A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings., [RefSeq, PubMed]; Binds to the DNA consensus sequence 5'-GGGGAATCTCC-3'., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Nuclear Factor Related to KappaB Binding Protein (NFRKB) Is a Telomere-Associated Protein and Involved in Liver Cancer Development., [RefSeq, PubMed]; Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Modulates the deubiquitinase activity of UCHL5 in the INO80 complex., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The biological function of metazoan-specific subunit nuclear factor related to kappaB binding protein of INO80 complex. Review article, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 75, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 75, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 75, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 83, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 77, "binding_glycan_count": 0, "secondary_ac_list": "Q12869;Q15312;Q9H048", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031011 Ino80 complex", "go_biological_process": "GO:0060382 regulation of DNA strand elongation;GO:0033044 regulation of chromosome organization;GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 22.2, "record_id": "Q6P4R8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULJ1-1", "uniprot_id": [ { "id": "ODF2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULJ1", "type": "external" } ], "mass": 73728.0, "length": 636, "protein_name": "Protein BCAP", "gene_name": "ODF2L", "organism": "Human", "refseq_name": "protein BCAP isoform b", "refseq_ac": [ { "id": "NP_001007023", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007023", "type": "external" } ], "gene_names_uniprotkb": "ODF2L; BCAP; KIAA1229", "gene_names_refseq": "ODF2L", "protein_names_uniprotkb": "Protein BCAP; Basal body centriole-associated protein; ODF2-like protein; Outer dense fiber protein 2-like", "protein_names_refseq": "ODF2-like protein; basal body centriole-associated protein; protein BCAP isoform b; protein BCAP", "tax_id": 9606, "disease": "", "pathway": " (hsa:57489)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;17485331;25576301;25645385;26992070;28775150;28832583;28834231;28904123;29242379;29331515;29557506;29786170;31844290;32387766;32488085;32938616;33141586;33392160;33592498;33968037;33981976;36010968;36215666;36284347;36378528", "class_list": "", "function": "Acts as a suppressor of ciliogenesis, specifically, the initiation of ciliogenesis., [UniProtKB, PubMed]; ODF2L acts as a synthetic lethal partner with WEE1 inhibition in epithelial ovarian cancer models. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8MU56;B4E037;Q05C40;Q5BJG5;Q5TBX3;Q5TBX4;Q86X31", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005814 centriole;GO:0034451 centriolar satellite;GO:0036064 ciliary basal body;GO:0005929 cilium", "go_biological_process": "GO:1902018 negative regulation of cilium assembly;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9ULJ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVX2-1", "uniprot_id": [ { "id": "NLE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVX2", "type": "external" } ], "mass": 53320.0, "length": 485, "protein_name": "Notchless protein homolog 1", "gene_name": "NLE1", "organism": "Human", "refseq_name": "notchless protein homolog 1 isoform b", "refseq_ac": [ { "id": "NP_001014445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014445", "type": "external" } ], "gene_names_uniprotkb": "NLE1; HUSSY-07", "gene_names_refseq": "HUSSY7; NLE1; NLE; Rsa4", "protein_names_uniprotkb": "Notchless protein homolog 1", "protein_names_refseq": "Notchless gene homolog; notchless protein homolog 1 isoform b; notchless protein homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54475)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11124703;11237011;12429849;16959974;17525332;20068231;22223895;24715725;25418920;25576301;25645385;26601951;26992070;27600516;28218747;28832583;28904123;29242379;29437277;29493099;29557506;30315122;30410026;30429286;30524438;30779550;30833945;31844290;32157095;32357974;32387766;32502341;32897882;32938616;33298915;33537174;33592498;33717175;33968037;33981976;34019948;34087483;34171305;34509645;34932366;35051231;36215666;36219392;36241641;38665916", "class_list": "", "function": "Plays a role in regulating Notch activity. Plays a role in regulating the expression of CDKN1A and several members of the Wnt pathway, probably via its effects on Notch activity. Required during embryogenesis for inner mass cell survival (By similarity)., [UniProtKB]; SMAD4 Loss Induces c-MYC-Mediated NLE1 Upregulation to Support Protein Biosynthesis, Colorectal Cancer Growth, and Metastasis., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O60868;Q59GJ8;Q9BU54", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005730 nucleolus;GO:0005634 nucleus", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0008593 regulation of Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9NVX2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00567-1", "uniprot_id": [ { "id": "NOP56_HUMAN", "url": "https://www.uniprot.org/uniprot/O00567", "type": "external" } ], "mass": 66050.0, "length": 594, "protein_name": "Nucleolar protein 56", "gene_name": "NOP56", "organism": "Human", "refseq_name": "nucleolar protein 56", "refseq_ac": [ { "id": "NP_006383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383", "type": "external" } ], "gene_names_uniprotkb": "NOP56; NOL5A", "gene_names_refseq": "NOL5A; NOP56; SCA36", "protein_names_uniprotkb": "Nucleolar protein 56; Nucleolar protein 5A", "protein_names_refseq": "NOP56 ribonucleoprotein homolog; nucleolar protein 56; nucleolar protein 5A (56kDa with KKE/D repeat)", "tax_id": 9606, "disease": "spinocerebellar ataxia 36 (Disease Ontology:DOID:0050983)", "pathway": " (hsa:10528); (R-HSA-390471); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 4, "publication_count": 228, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;12429849;12502735;12777385;15199136;15574333;16037817;16043514;16381836;16565220;16738141;16782898;17081983;17189298;17353269;17412707;17487921;17636026;18065403;18438418;18452278;18578522;18669648;18691976;18707149;18767875;18775504;18991276;19011634;19033376;19106111;19332556;19413330;19415658;19463982;19564402;19620283;19651622;19690332;19691289;19801658;20038530;20047967;20056613;20058876;20068231;20166139;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21098288;21406692;21683323;21995946;22072790;22190735;22195017;22424782;22645359;22898188;22916032;23090970;23186163;23301498;23391857;23439679;23481700;23482395;23584533;23747015;2388630;24086612;24129315;24190977;24275569;24424021;24550520;24714562;24715725;24756126;25342745;25411247;25418920;25467444;25525153;25576301;25645385;25653167;25755297;25772364;25802875;25851604;25892735;25969445;26085946;26154972;26196125;26237581;26375851;26728094;26768311;26992070;27084949;27397612;27600516;27846572;27862975;27920218;28063628;28228285;28446606;28467828;28510447;28514659;28760965;28832583;28834231;28855257;28860189;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29605689;29632046;29632711;29741879;29769354;29786170;29789417;30315122;30429286;30444036;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34516797;34561969;34725712;34932366;35051231;35083852;35154160;35251023;35318648;35561310;35580925;36010968;36161484;36215666;36241641;36284347;36741964;37217939;37938771;38665916;38667292;38811808;39302247;39570315;40596516;40914422;9211966;9372940;9482744;9512526;9819444", "class_list": "", "function": "Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation., [RefSeq, PubMed]; Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) complexes that function in methylation of multiple sites on ribosomal RNAs (rRNAs) and messenger RNAs (mRNAs)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Expansion of a GGCCTG repeat from 3-8 copies to 1500-2500 copies in an intron of this gene results in spinocerebellar ataxia 36. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jul 2016]., [RefSeq]; The roles of NOP56 in cancer and SCA36. 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": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q2M3T6;Q9NQ05", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0030515 snoRNA binding;GO:1990226 histone methyltransferase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0001650 fibrillar center", "go_biological_process": "GO:0016556 mRNA modification;GO:0030182 neuron differentiation;GO:0006364 rRNA processing;GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "O00567-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BT17-1", "uniprot_id": [ { "id": "MTG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BT17", "type": "external" } ], "mass": 37237.0, "length": 334, "protein_name": "Mitochondrial ribosome-associated GTPase 1", "gene_name": "MTG1", "organism": "Human", "refseq_name": "mitochondrial ribosome-associated GTPase 1", "refseq_ac": [ { "id": "NP_612393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612393", "type": "external" } ], "gene_names_uniprotkb": "MTG1; GTPBP7", "gene_names_refseq": "GTPBP7; GTP; MTG1", "protein_names_uniprotkb": "Mitochondrial ribosome-associated GTPase 1; GTP-binding protein 7; Mitochondrial GTPase 1", "protein_names_refseq": "GTP-binding protein 7 (putative); mitochondrial GTPase 1 homolog; mitochondrial ribosome-associated GTPase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:92170)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;12808030;23396448;24715725;25505266;25576301;26375851;26992070;27846572;27920218;28063628;28228285;29242379;29393594;29632046;29786170;30315122;30524438;31154438;31217245;31844290;31848261;32387766;32502341;32938616;33141586;33298915;33936100;34211107;34385605;34509645;34561969;35051231;35580925;36177509", "class_list": "", "function": "Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays mitochondrial GTPase activity., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; Potential pathogenetic link between angiomyofibroblastoma and superficial myofibroblastoma in the female lower genital tract based on a novel MTG1-CYP2E1 fusion., [RefSeq, PubMed]; Vulvar angiomyofibroblastoma is molecularly defined by recurrent MTG1-CYP2E1 fusions., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q5VWX8;Q6PIY9;Q8IYJ4;Q8NC48;Q9BVU8", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0005761 mitochondrial ribosome", "go_biological_process": "GO:0070129 regulation of mitochondrial translation;GO:0044065 regulation of respiratory system process;GO:1902775 mitochondrial large ribosomal subunit assembly", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9BT17-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UDX5-1", "uniprot_id": [ { "id": "MTFP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UDX5", "type": "external" } ], "mass": 18010.0, "length": 166, "protein_name": "Mitochondrial fission process protein 1", "gene_name": "MTFP1", "organism": "Human", "refseq_name": "mitochondrial fission process protein 1 isoform b", "refseq_ac": [ { "id": "NP_001003704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003704", "type": "external" } ], "gene_names_uniprotkb": "MTFP1; HSPC242; MTP18; My022", "gene_names_refseq": "HSPC242; MTFP1; MTP18", "protein_names_uniprotkb": "Mitochondrial fission process protein 1; MTP18; Mitochondrial 18 kDa protein", "protein_names_refseq": "mitochondrial 18 kDa protein; mitochondrial fission process protein 1 isoform b; mitochondrial fission process protein 1; mitochondrial fission protein MTP18; mitochondrial protein 18 kDa", "tax_id": 9606, "disease": "Parkinson's disease 6 (Disease Ontology:DOID:0060369); neuroblastoma (Disease Ontology:DOID:769)", "pathway": " (hsa:51537)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;15155745;15985469;18477386;22645359;24714562;25418920;25576301;26154972;26728094;26992070;27600516;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29437277;29557506;29632046;30315122;30410026;30573663;30833945;31217245;31844290;31848261;31998317;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33592498;33633747;33691108;33717175;33912179;34171305;34357683;34561969;34932366;35051231;35561310;36010968;36241641;36380260;37313742;38042218;38851188;41398051", "class_list": "", "function": "Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models., [RefSeq, PubMed]; MTFP1 controls mitochondrial fusion to regulate inner membrane quality control and maintain mtDNA levels., [RefSeq, PubMed]; MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM, Mar 2008]., [RefSeq]; MTP18 mRNA as well as protein expression is dependent on PI 3-kinase activity., [RefSeq, PubMed]; MiR-125b-5p Targets MTFP1 to Inhibit Cell Proliferation, Migration, and Invasion and Facilitate Cell Apoptosis in Endometrial Carcinoma., [RefSeq, PubMed]; Plays a role in the regulation of mitochondrial morphology (PubMed:15155745, PubMed:15985469). Inhibits mitochondrial fusion by creating a non-fusogenic lipid environment which affects OPA1 oligomerization and its subsequent capacity to drive fusion (PubMed:38851188). This prevents defective inner mitochondrial membrane (IMM) subdomains from fusing with other mitochondria, facilitating their segregation into small MTFP1-enriched mitochondria (SMEM) which are targeted for autophagic degradation (PubMed:38851188, PubMed:41398051). This IMM quality control mechanism controls mitochondrial DNA levels (PubMed:38851188)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The inner mitochondrial membrane fission protein MTP18 serves as a mitophagy receptor to prevent apoptosis in oral cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NFQ5;Q9H3K1;Q9P0N6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006915 apoptotic process;GO:0000266 mitochondrial fission", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9UDX5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULZ9-1", "uniprot_id": [ { "id": "MMP17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULZ9", "type": "external" } ], "mass": 66653.0, "length": 603, "protein_name": "Matrix metalloproteinase-17", "gene_name": "MMP17", "organism": "Human", "refseq_name": "matrix metalloproteinase-17 isoform 1 precursor", "refseq_ac": [ { "id": "NP_057239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057239", "type": "external" } ], "gene_names_uniprotkb": "MMP17; MT4MMP", "gene_names_refseq": "MMP-17; MMP17; MT4-MMP; MT4MMP; MTMMP4", "protein_names_uniprotkb": "Matrix metalloproteinase-17; 3.4.24.-; MMP-17; MT-MMP 4; MT4-MMP; MT4MMP; MTMMP4; Membrane-type matrix metalloproteinase 4; Membrane-type-4 matrix metalloproteinase", "protein_names_refseq": "MT-MMP 4; matrix metallopeptidase 17 (membrane-inserted); matrix metalloproteinase 17 (membrane-inserted); matrix metalloproteinase-17 isoform 1 precursor; matrix metalloproteinase-17; membrane-type matrix metalloproteinase 4; membrane-type-4 matrix metalloproteinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:4326); (R-HSA-1592389)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10471807;10543448;10551873;10567400;11237011;11830519;1311314;1371271;1390635;1480033;1783204;18452278;2159879;2169257;2176865;2269296;2383557;2546891;2551898;2557753;25645385;25892735;26375851;28531887;29500407;29557506;3058116;30792164;31813546;32157095;32350084;32387766;32488085;32938616;34171305;34509645;35051231;35251023;35580925;36042626;36241641;38310435;4216367;6263256;7669817;7746327;7780967;7826345;7890645;7896811;7981201;8015608;8194591;8314771;8530478;8576151;8621565;8640782;8645182;8663255;8804434;9261109;9346290;9422744;9578462;9632662", "class_list": "", "function": "Elevated Plasma Levels of MT4-MMP and MT6-MMP; A New Observation in Patients with Thyroid Nodules. Publication Status: Online-Only, [RefSeq, PubMed]; Endopeptidase that degrades various components of the extracellular matrix, such as fibrin. May be involved in the activation of membrane-bound precursors of growth factors or inflammatory mediators, such as tumor necrosis factor-alpha. May also be involved in tumoral process. Cleaves pro-TNF at the '74-Ala-|-Gln-75' site. Not obvious if able to proteolytically activate progelatinase A. Does not hydrolyze collagen types I, II, III, IV and V, gelatin, fibronectin, laminin, decorin nor alpha1-antitrypsin., [UniProtKB]; In breast cancer cells, the overexpression of MT4-MMP modulates the expression of microRNAs involved in several biological processes associated with tumor formation and progression and with clinical relevance., [RefSeq, PubMed]; Increased expression of MMP17 predicts poor clinical outcomes in epithelial ovarian cancer patients., [RefSeq, PubMed]; MT4-MMP promotes invadopodia formation and cell motility in FaDu head and neck cancer cells., [RefSeq, PubMed]; MT4-MMP targeting may constitute a novel strategy to boost patrolling monocyte activity in early inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein is unique among the membrane-type matrix metalloproteinases in that it is anchored to the cell membrane via a glycosylphosphatidylinositol (GPI) anchor. Elevated expression of the encoded protein has been observed in osteoarthritis and multiple human cancers. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q14850", "ec_number_list": [ { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "3.4.24.80", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.80", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008047 enzyme activator activity;GO:0008270 zinc ion binding;GO:0070006 metalloaminopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0098552 side of membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0030198 extracellular matrix organization;GO:0030574 collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9ULZ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHY1-1", "uniprot_id": [ { "id": "NRBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHY1", "type": "external" } ], "mass": 59845.0, "length": 535, "protein_name": "Nuclear receptor-binding protein", "gene_name": "NRBP1", "organism": "Human", "refseq_name": "nuclear receptor-binding protein isoform 1", "refseq_ac": [ { "id": "NP_001308286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308286", "type": "external" } ], "gene_names_uniprotkb": "NRBP1; BCON3; NRBP", "gene_names_refseq": "BCON3; MADM; MUDPNP; NRBP1; NRBP", "protein_names_uniprotkb": "Nuclear receptor-binding protein", "protein_names_refseq": "multiple domain putative nuclear protein; myeloid leukemia factor 1 adaptor molecule; nuclear receptor-binding protein isoform 1; nuclear receptor-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:29959); (R-HSA-383280); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 142, "publication_id_list": "10235266;10542397;10843813;11230166;11237011;11747608;11865025;11956649;12176995;14519844;14762106;15084397;15175151;15345747;15896744;16751179;16964243;17081983;17287340;17344846;18088087;18452278;18669648;18991276;19007248;19413330;19651622;19664994;19664995;19690332;20058876;20068231;20112406;21406692;21911577;22223895;22510880;23186163;23301498;23481700;24714562;24715725;25576301;25645385;26092250;26154972;26375851;26728094;26811146;26992070;27108190;27543614;27600516;27862975;27920218;28063628;28228285;28510447;28657654;28832583;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29902443;30059200;30315122;30379171;30429286;30524438;30599162;30620550;30779550;30833945;31154438;31222486;31492838;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33177556;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35132862;35215846;35251023;35254053;35318648;35513511;35580925;35705054;36010968;36241641;36284347;36693952;36790665;37541260;38665916;38838015;39149873;39531497;39534244;40307207;40914422;9653119", "class_list": "", "function": "Interaction of the small GTPase Rac3 with NRBP: results suggest that NRBP functions in subcellular trafficking and may be directed to specific subcellular locations through interaction with small GTPases of the Rho family, [RefSeq, PubMed]; Mediates phosphorylation of the 14-3-3 binding site of myeloid leukemia factor 1, [RefSeq, PubMed]; NRBP1 promotes malignant phenotypes of glioblastoma by regulating PI3K/Akt activation., [RefSeq, PubMed]; NS3 protein of dengue virus type 2 interacted specifically with nuclear receptor binding protein, a host cellular protein that influences trafficking between the endoplasmic reticulum and Golgi, and that interacts with Rac3, [RefSeq, PubMed]; Required for embryonic development (By similarity). Plays a role in intestinal epithelial cell fate and proliferation, thereby involved in the architectural development of the intestine potentially via the regulation of Wnt-responsive genes (By similarity). May play a role in subcellular trafficking between the endoplasmic reticulum and Golgi apparatus through interactions with the Rho-type GTPases (PubMed:11956649). Binding to the NS3 protein of dengue virus type 2 appears to subvert this activity into the alteration of the intracellular membrane structure associated with flaviviral replication (PubMed:15084397)., [UniProtKB, UniProtKB, PubMed, PubMed]; The Circular RNA Circ_0085494 Regulates Prostate Cancer Progression Through NRBP1/miR-497-5p Axis., [RefSeq, PubMed]; The pseudokinase NRBP1 activates Rac1/Cdc42 via P-Rex1 to drive oncogenic signalling in triple-negative breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B3KV40;D6W558;Q53FZ5;Q96SU3", "ec_number_list": [], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005938 cell cortex;GO:0030027 lamellipodium;GO:0012505 endomembrane system", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0006974 DNA damage response;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:1904062 regulation of monoatomic cation transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q9UHY1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15714-1", "uniprot_id": [ { "id": "T22D1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15714", "type": "external" } ], "mass": 109677.0, "length": 1073, "protein_name": "TSC22 domain family protein 1", "gene_name": "TSC22D1", "organism": "Human", "refseq_name": "TSC22 domain family protein 1 isoform 4", "refseq_ac": [ { "id": "NP_001230728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230728", "type": "external" } ], "gene_names_uniprotkb": "TSC22D1; KIAA1994; TGFB1I4; TSC22; hucep-2", "gene_names_refseq": "HUCEP-2; Ptg-2; TGFB1I4; TSC22D1; TSC22", "protein_names_uniprotkb": "TSC22 domain family protein 1; Cerebral protein 2; HUCEP-2; Regulatory protein TSC-22; TGFB-stimulated clone 22 homolog; Transforming growth factor beta-1-induced transcript 4 protein", "protein_names_refseq": "TGFB-stimulated clone 22 homolog; TGFbeta-stimulated clone 22; TSC22 domain family protein 1 isoform 4; cerebral protein 2; regulatory protein TSC-22; transcriptional regulator TSC-22; transforming growth factor beta-1-induced transcript 4 protein; transforming growth factor beta-stimulated protein TSC-22", "tax_id": 9606, "disease": "", "pathway": " (hsa:8848)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10488076;11237011;12056414;12468551;12757981;15881652;17690703;18325344;19690332;21448135;21791611;23481700;25576301;25645385;26752201;28657654;29351928;29557506;30429286;31154438;31844290;32157095;32387766;32897882;32938616;32983136;33592498;33968037;33981976;34171305;34509645;34681573;35051231;35254053;35580925;36010968;36284347;38665916;39531497;8651929;9022669;9026990", "class_list": "", "function": "Differential regulation of antagonistic TSC22D1 variants is required for the establishment of oncogene-induced cellular senescence., [RefSeq, PubMed]; Findings suggest that the TSC-22 gene (-396) A allele is associated with an increasing risk of diabetic nephropathy GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Identification of Binding Proteins for TSC22D1 Family Proteins Using Mass Spectrometry. Publication Status: Online-Only, [RefSeq, PubMed]; May act to negatively regulate TGFB3 signaling and thereby inhibit cell death in mammary gland cells., [UniProtKB, UniProtKB]; Positively regulates cell death in response to TGFB3 during mammary gland involution., [UniProtKB, UniProtKB]; TSC-22 is a potential tumor suppressor that is upregulated by Flt3-D835V but not Flt3-ITD, [RefSeq, PubMed]; This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; Transcriptional repressor (PubMed:10488076). Acts on the C-type natriuretic peptide (CNP) promoter (PubMed:9022669). Acts to promote CASP3-mediated apoptosis (PubMed:18325344). Positively regulates TGF-beta signaling by interacting with SMAD7 which inhibits binding of SMAD7 to TGFBR1, preventing recruitment of SMURF ubiquitin ligases to TGFBR1 and inhibiting SMURF-mediated ubiquitination and degradation of TGFBR1 (PubMed:21791611). Contributes to enhancement of TGF-beta signaling by binding to and modulating the transcription activator activity of SMAD4 (PubMed:15881652). Promotes TGF-beta-induced transcription of COL1A2; via its interaction with TFE3 at E-boxes in the gene proximal promoter (By similarity). Plays a role in the repression of hematopoietic precursor cell growth (By similarity). Promotes IL2 deprivation-induced apoptosis in T-lymphocytes, via repression of TSC22D3/GILZ transcription and activation of the caspase cascade (PubMed:26752201)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "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": "A0A087X0H8;B3KRL7;B9EGI0;O00666;Q6AHX5;Q6IBU1;Q8NCN1;Q96JS5", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q15714-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12968-1", "uniprot_id": [ { "id": "NFAC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12968", "type": "external" } ], "mass": 115594.0, "length": 1075, "protein_name": "Nuclear factor of activated T-cells, cytoplasmic 3", "gene_name": "NFATC3", "organism": "Human", "refseq_name": "nuclear factor of activated T-cells, cytoplasmic 3 isoform 2", "refseq_ac": [ { "id": "NP_004546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004546", "type": "external" } ], "gene_names_uniprotkb": "NFATC3; NFAT4", "gene_names_refseq": "NF-AT4c; NFAT4; NFATC3; NFATX; n339260", "protein_names_uniprotkb": "Nuclear factor of activated T-cells, cytoplasmic 3; NF-AT4c; NF-AT4; NF-ATc3; NFATc3; NFATx; T-cell transcription factor NFAT4", "protein_names_refseq": "NF-ATc3; T cell transcription factor NFAT4; nuclear factor of activated T-cells, cytoplasmic 3 isoform 2; nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:4775); (R-HSA-2025928); (R-HSA-2871809); (R-HSA-5607763)", "pathway_count": 4, "publication_count": 90, "publication_id_list": "10089876;10860980;11015619;11030334;11231878;11237011;11395409;12573241;12975316;1715244;17502104;18296442;18815128;19664994;23186163;23301498;2445721;24715725;25576301;26154972;26992070;27600516;27863227;28218747;28228285;28411811;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632711;29786170;30294901;30315122;30410026;30980393;31154438;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32415068;32502341;32897882;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34509645;34570211;35051231;35484132;35708150;36010968;36284347;37340423;37938771;38253038;38862832;40307207;7518558;7657645;7739550;7749981;8576111;8629002;8630736;8631904;8684469;8799126;9106655;9312192;9374467;9630228;9727000;9759864", "class_list": "", "function": "Acts as a regulator of transcriptional activation. Binds to the TNFSF11/RANKL promoter region and promotes TNFSF11 transcription (By similarity). Binding to the TNFSF11 promoter region is increased by high levels of Ca(2+) which induce NFATC3 expression and may lead to regulation of TNFSF11 expression in osteoblasts (By similarity). Plays a role in promoting mesenteric arterial wall remodeling in response to the intermittent hypoxia-induced increase in EDN1 and ROCK signaling (By similarity). As a result NFATC3 colocalizes with F-actin filaments, translocates to the nucleus and promotes transcription of the smooth muscle hypertrophy and differentiation marker ACTA2 (By similarity). Promotes lipopolysaccharide-induced apoptosis and hypertrophy in cardiomyocytes (By similarity). Following JAK/STAT signaling activation and as part of a complex with NFATC4 and STAT3, binds to the alpha-beta E4 promoter region of CRYAB and activates transcription in cardiomyocytes (By similarity). In conjunction with NFATC4, involved in embryonic heart development via maintenance of cardiomyocyte survival, proliferation and differentiation (By similarity). Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 (PubMed:18815128). Required for thymocyte maturation during DN3 to DN4 transition and during positive selection (By similarity). Positively regulates macrophage-derived polymicrobial clearance, via binding to the promoter region and promoting transcription of NOS2 resulting in subsequent generation of nitric oxide (By similarity). Involved in Ca(2+)-mediated transcriptional responses upon Ca(2+) influx via ORAI1 CRAC channels., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]; CircNFATC3 promotes the proliferation of gastric cancer through binding to IGF2BP3 and restricting its ubiquitination to enhance CCND1 mRNA stability. Publication Status: Online-Only, [RefSeq, PubMed]; HNRNPA2B1 stabilizes NFATC3 levels to potentiate its combined actions with FOSL1 to mediate vasculogenic mimicry in GBM cells. Publication Status: Online-Only, [RefSeq, PubMed]; Hypoxia-induced NFATc3 deSUMOylation enhances pancreatic carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA NEAT1 promotes hypoxia-induced inflammation and fibrosis of alveolar epithelial cells via targeting miR-29a/NFATc3 axis., [RefSeq, PubMed]; Macrophage NFATc3 prevents foam cell formation and atherosclerosis: evidence and mechanisms., [RefSeq, PubMed]; The product of this gene is a member of the nuclear factors of activated T cells 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 (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 25, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "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": "O75211;Q14516;Q99840;Q99841;Q99842", "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:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005667 transcription regulator complex", "go_biological_process": "GO:1905064 negative regulation of vascular associated smooth muscle cell differentiation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006954 inflammatory response;GO:0045429 positive regulation of nitric oxide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q12968-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4L4-1", "uniprot_id": [ { "id": "SENP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4L4", "type": "external" } ], "mass": 65010.0, "length": 574, "protein_name": "Sentrin-specific protease 3", "gene_name": "SENP3", "organism": "Human", "refseq_name": "sentrin-specific protease 3", "refseq_ac": [ { "id": "NP_056485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056485", "type": "external" } ], "gene_names_uniprotkb": "SENP3; SSP3; SUSP3", "gene_names_refseq": "SENP3; SMT3IP1; SSP3; Ulp1", "protein_names_uniprotkb": "Sentrin-specific protease 3; 3.4.22.-; SUMO-1-specific protease 3; Sentrin/SUMO-specific protease SENP3", "protein_names_refseq": "SUMO-1-specific protease 3; SUMO1/sentrin/SMT3 specific peptidase 3; sentrin-specific protease 3; sentrin/SUMO-specific protease 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:26168); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "10806345;11230166;11237011;11922599;12068309;12150911;15743823;15960975;16037817;16043514;16565220;16608850;16738141;17081983;17189298;17353269;17412707;18065403;18259216;18438418;18452278;18491316;18669648;18691976;18946085;19007248;19015314;19106111;19332556;19564402;19651622;19664994;19664995;19680224;19691289;19801658;20038530;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22872859;22916032;23186163;23439679;23482395;2388630;24424021;24550520;24715725;25406032;25525153;25645385;25892735;25969445;26154972;26237581;26992070;27846572;27920218;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30779550;30833945;31154438;31844290;31998317;32157095;32488085;32502341;32522876;32832608;32983136;33141586;33298915;33592498;33633747;33936100;34171305;34211107;34932366;35051231;35580925;36010968;36050397;36241641;37188742;38273178;38383667;39218945;39270822;9482744", "class_list": "", "function": "METTL16-SENP3-LTF axis confers ferroptosis resistance and facilitates tumorigenesis in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Protease that releases SUMO2 and SUMO3 monomers from sumoylated substrates, but has only weak activity against SUMO1 conjugates (PubMed:16608850, PubMed:32832608, PubMed:36050397). Deconjugates SUMO2 from MEF2D, which increases its transcriptional activation capability (PubMed:15743823). Deconjugates SUMO2 and SUMO3 from CDCA8 (PubMed:18946085). Redox sensor that, when redistributed into nucleoplasm, can act as an effector to enhance HIF1A transcriptional activity by desumoylating EP300 (PubMed:19680224). Required for rRNA processing through deconjugation of SUMO2 and SUMO3 from nucleophosmin, NPM1 (PubMed:19015314). Plays a role in the regulation of sumoylation status of ZNF148 (PubMed:18259216). Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (PubMed:22872859). Deconjugates SUMO2 from KAT5 (PubMed:32832608). Catalyzes desumoylation of MRE11 (PubMed:36050397)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SENP3 Promotes Mantle Cell Lymphoma Development through Regulating Wnt10a Expression., [RefSeq, PubMed]; SENP3 mediates the activation of the Wnt/beta-catenin signaling pathway to accelerate the growth and metastasis of oesophagal squamous cell carcinoma in mice. Publication Status: Online-Only, [RefSeq, PubMed]; SENP3 mediates the deSUMOylation and degradation of YAP1 to regulate the progression of triple-negative breast cancer., [RefSeq, PubMed]; SUMO specific peptidase 3 halts pancreatic ductal adenocarcinoma metastasis via deSUMOylating DKC1., [RefSeq, PubMed]; The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP3, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 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": "Q66K15;Q86VS7;Q96PS4;Q9Y3W9", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" } ], "go_molecular_function": "GO:0016929 deSUMOylase activity;GO:0008234 cysteine-type peptidase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0071339 MLL1 complex", "go_biological_process": "GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:0006508 proteolysis;GO:0000448 cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0016926 protein desumoylation", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q9H4L4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02297-1", "uniprot_id": [ { "id": "NRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02297", "type": "external" } ], "mass": 70392.0, "length": 640, "protein_name": "Pro-neuregulin-1, membrane-bound isoform", "gene_name": "NRG1", "organism": "Human", "refseq_name": "pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1c", "refseq_ac": [ { "id": "NP_001153467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153467", "type": "external" } ], "gene_names_uniprotkb": "NRG1; GGF; HGL; HRGA; NDF; SMDF", "gene_names_refseq": "ARIA; GGF2; GGF; HGL; HRG1; HRGA; HRG; MST131; MSTP131; NDF; NRG1-IT2; NRG1; SMDF", "protein_names_uniprotkb": "Pro-neuregulin-1, membrane-bound isoform; ARIA; Acetylcholine receptor-inducing activity; Breast cancer cell differentiation factor p45; Glial growth factor; HRG; Heregulin; Neu differentiation factor; Pro-NRG1; Sensory and motor neuron-derived factor", "protein_names_refseq": "NRG1 class VII isoform alpha 2a; NRG1 class VII isoform alpha 2b; NRG1 class VII isoform alpha beta 2a; NRG1 class VII isoform alpha beta 3; NRG1 class VII isoform beta 2a; NRG1 class VII isoform beta 3; acetylcholine receptor-inducing activity; glial growth factor 2; heregulin, alpha (45kD, ERBB2 p185-activator); neu differentiation factor; pro-NRG1; pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1c; sensory and motor neuron derived factor", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); obstructive sleep apnea (Disease Ontology:DOID:0050848); schizophrenia 6 (Disease Ontology:DOID:0070082); overactive bladder syndrome (Disease Ontology:DOID:0070355); amblyopia (Disease Ontology:DOID:10376); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); Alzheimer's disease (Disease Ontology:DOID:10652); sciatic neuropathy (Disease Ontology:DOID:11446); dementia (Disease Ontology:DOID:1307); interstitial cystitis (Disease Ontology:DOID:13949); cerebral malaria (Disease Ontology:DOID:14069); major depressive disorder (Disease Ontology:DOID:1470); alcohol use disorder (Disease Ontology:DOID:1574); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); cannabis dependence (Disease Ontology:DOID:1849); transient cerebral ischemia (Disease Ontology:DOID:224); ovarian cancer (Disease Ontology:DOID:2394); psychotic disorder (Disease Ontology:DOID:2468); substance abuse (Disease Ontology:DOID:302); bipolar disorder (Disease Ontology:DOID:3312); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); middle cerebral artery infarction (Disease Ontology:DOID:3525); tuberculosis (Disease Ontology:DOID:399); schizophrenia (Disease Ontology:DOID:5419); median neuropathy (Disease Ontology:DOID:571); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); neuropathy (Disease Ontology:DOID:870); cannabis abuse (Disease Ontology:DOID:9505); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:3084); (R-HSA-1227986); (R-HSA-1236394); (R-HSA-1250196); (R-HSA-1250342); (R-HSA-1250347); (R-HSA-1251985); (R-HSA-1257604); (R-HSA-1306955); (R-HSA-1358803); (R-HSA-1963640); (R-HSA-1963642); (R-HSA-2219530); (R-HSA-5673001); (R-HSA-6785631); (R-HSA-6811558); (R-HSA-8847993); (R-HSA-8863795); (R-HSA-9620244); (R-HSA-9664565); (R-HSA-9665686)", "pathway_count": 21, "publication_count": 239, "publication_id_list": "10191262;10508167;10523851;10597312;10722704;10867024;10869344;10878805;11027663;11071886;11090077;11136978;11147812;11237011;11313946;11432829;11546808;11679632;11702783;11803464;12032311;12052829;12094235;12121613;12145742;12167717;12239347;12411582;12651161;12767043;12807903;1325671;1348215;1350381;14506247;14660651;14707138;15023535;15059917;15156151;15356145;1545823;15527969;15528194;15534001;15546878;15568014;15643424;15718470;15834429;16061658;16339315;16456541;16627759;16647110;16684964;16843263;1688559;16912174;16978839;17018285;17030621;1706616;1716764;17200115;17210635;17311002;17545517;17565985;17626883;17652160;17998941;18039657;18045866;18077418;18079394;18317450;18413839;18594509;18606717;18653779;18719096;18721752;18754654;18755892;18775330;18829560;18925875;18955552;1898771;19047365;19185485;19279408;19411071;19576174;19596786;19644473;1973074;19805105;19920141;19933325;19962665;20218976;2022652;20231295;20338997;20478380;20522708;20682778;20713702;20937854;21102635;21188471;21317208;21368164;21372320;21376233;21478295;21653853;21668414;21779497;21779505;21827948;21840311;21976531;21984976;21993244;22046346;22120714;22188813;22569528;22588880;22589270;22750304;22802530;23103841;23220880;23230144;23303910;23443682;23575685;23843458;23846654;23948973;24308844;24829397;24897931;24937142;24971884;25081058;25219551;2543678;25781681;25853726;25994018;26085527;26375550;26545934;28274957;28449373;28778966;28904123;29242379;29557506;29789417;29967253;30301790;30314968;30449325;30620550;30833945;30854046;31135801;31222486;31844290;31848261;32157095;32938616;32983136;33592498;33968037;34019948;34087483;34171305;35051231;35580925;36284347;38969045;39407109;39531497;6148751;7478576;7509448;7541030;7542744;7556068;7565730;7637810;7689552;7744773;7782315;7809086;7902537;7929212;7929214;7935463;7970720;7972015;8026468;8036006;8052307;8062828;8096067;8101647;8394845;8493579;8530511;8617201;8617750;8622888;8639490;8645157;8657148;8665852;8665853;8710374;8939933;9135143;9168115;9232641;9275162;9333014;9461599;9516479;9556621;9604935;9736715;9895304;9927426", "class_list": "", "function": "Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gland and inducing differentiation of mammary tumor cells; stimulating Schwann cell proliferation; implication in the development of the myocardium such as trabeculation of the developing heart. Isoform 10 may play a role in motor and sensory neuron development. Binds to ERBB4 (PubMed:10867024, PubMed:7902537). Binds to ERBB3 (PubMed:20682778). Acts as a ligand for integrins and binds (via EGF domain) to integrins ITGAV:ITGB3 or ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and ERRB3 are essential for NRG1-ERBB signaling. Induces the phosphorylation and activation of MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:20682778). Ligand-dependent ERBB4 endocytosis is essential for the NRG1-mediated activation of these kinases in neurons (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Each of the six types of NRG1 has a distinct expression pattern in the brain at different ages, resulting in a change in NRG1 isoform composition. Also, the expression of each NRG1 isoform is distinctly regulated by neuronal activity., [RefSeq, PubMed]; NRG1 type IV expression levels can selectively modify signaling of NRG1 released from somato-dendritic compartments, in contrast to the type III NRG1 that is also associated with axons, [RefSeq, PubMed]; NRG1, with nine potential promoter, plays a central role in neural development and is most likely involved in regulation of synaptic plasticity, or how the brain responds or adapts to the environment., [RefSeq, PubMed]; Neuregulin 1 mitigated prolactin deficiency through enhancing TRPM8 signaling under the influence of melatonin in senescent pituitary lactotrophs., [RefSeq, PubMed]; The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016]., [RefSeq]; The role and mechanism of NRG1/ErbB4 in inducing the differentiation of induced pluripotent stem cells into cardiomyocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Type IV is a unique brain-specific NRG1 that is differentially expressed and processed during early development, is translated, and its expression regulated by a schizophrenia risk-associated functional promoter or single nucleotide polymorphism, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 3, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 31, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A5YAK4;A5YAK5;A8K1L2;B7Z4Z3;E9PHH4;O14667;P98202;Q02298;Q02299;Q07110;Q07111;Q12779;Q12780;Q12781;Q12782;Q12783;Q12784;Q15491;Q7RTV9;Q7RTW0;Q7RTW1;Q7RTW2;Q8NFN1;Q8NFN2;Q8NFN3;Q9UPE3", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005178 integrin binding;GO:0008270 zinc ion binding;GO:0005125 cytokine activity;GO:0030296 protein tyrosine kinase activator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005886 plasma membrane", "go_biological_process": "GO:0060379 cardiac muscle cell myoblast differentiation;GO:0038127 ERBB signaling pathway;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007399 nervous system development;GO:0008283 cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 24.3, "record_id": "Q02297-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFZ3-1", "uniprot_id": [ { "id": "NLGNY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFZ3", "type": "external" } ], "mass": 92021.0, "length": 816, "protein_name": "Neuroligin-4, Y-linked", "gene_name": "NLGN4Y", "organism": "Human", "refseq_name": "neuroligin-4, Y-linked isoform 2 precursor", "refseq_ac": [ { "id": "NP_001157710", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157710", "type": "external" } ], "gene_names_uniprotkb": "NLGN4Y; KIAA0951", "gene_names_refseq": "HNL4Y; NLGN4Y", "protein_names_uniprotkb": "Neuroligin-4, Y-linked; Neuroligin Y", "protein_names_refseq": "alternative HNL4Y; neuroligin-4, Y-linked isoform 2 precursor", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:22829); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11604393;12669065;15540461;16077734;16242404;16624946;16846852;17897391;18812509;18829961;20064387;20064388;20519524;21282647;25378172;25558953;25576301;27626693;29229842;29557506;30568303;31154438;32243781;32502341;33141586;39894887;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "glycogene", "function": "A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y., [RefSeq, PubMed]; Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members., [UniProtKB, UniProtKB]; Expression of NLGN4Y, a gene that may be involved in synaptic function, is increased in boys with XYY, [RefSeq, PubMed]; Neuroligin mutations most probably represent rare causes of autism; it is unlikely that the allelic variants in any of these genes would be major risk factors for autism., [RefSeq, PubMed]; Results suggest an association between a maternal immune response to neuroligin 4 Y-linked (NLGN4Y) and subsequent sexual orientation in male offspring. Erratum:[Proc Natl Acad Sci U S A. 2022 Aug 23;119(34):e2212767119. doi: 10.1073/pnas.2212767119. PMID: 35981140], [RefSeq, PubMed]; Results suggest that NLGN4Y is an important negative regulator in prostate cancer progression., [RefSeq, PubMed]; This gene encodes a type I membrane protein that belongs to the family of neuroligins, which are cell adhesion molecules present at the postsynaptic side of the synapse, and may be essential for the formation of functional synapses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Mar 2011]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 334, "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": "F5H6W0;Q14D08;Q7Z3T5;Q8N5B6;Q9Y2F8", "ec_number_list": [], "go_molecular_function": "GO:0050839 cell adhesion molecule binding;GO:0097110 scaffold protein binding;GO:0042043 neurexin family protein binding;GO:0098631 cell adhesion mediator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite;GO:0043197 dendritic spine;GO:0045202 synapse", "go_biological_process": "GO:0099054 presynapse assembly;GO:0007612 learning;GO:0007416 synapse assembly;GO:0035176 social behavior;GO:0007158 neuron cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8NFZ3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N0W4-1", "uniprot_id": [ { "id": "NLGNX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N0W4", "type": "external" } ], "mass": 91915.0, "length": 816, "protein_name": "Neuroligin-4, X-linked", "gene_name": "NLGN4X", "organism": "Human", "refseq_name": "neuroligin-4, X-linked precursor", "refseq_ac": [ { "id": "NP_001269074", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269074", "type": "external" } ], "gene_names_uniprotkb": "NLGN4X; KIAA1260; NLGN4; PRO701", "gene_names_refseq": "ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4X; NLGN4", "protein_names_uniprotkb": "Neuroligin-4, X-linked; HNLX; Neuroligin X", "protein_names_refseq": "neuroligin-4, X-linked precursor", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autistic disorder (Disease Ontology:DOID:12849); autism, susceptibility to, X-linked 2 (MONDO:MONDO:0010341)", "pathway": " (hsa:57502); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11368788;11604393;12669065;12975309;14963808;15150161;15340161;15540461;16242404;16624946;16846852;16959974;17897391;18093521;18812509;18829961;20064387;20064388;20519524;21282647;24190977;25378172;25675530;25892735;28218747;28228285;29242379;29308320;29769354;30568303;31092671;31154438;31222486;31844290;32157095;32387766;32502341;33268543;33592498;34357683;34403115;35051231;36228153;36747195;37865312;37938771;38902533;7695896;7736595;8576240;9069287;9278515;9808458;9927700", "class_list": "glycogene", "function": "Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members., [UniProtKB, PubMed]; Late stage melanoma is hallmarked by low NLGN4X expression leading to HIF1A accumulation., [RefSeq, PubMed]; RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma., [RefSeq, PubMed]; Report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders, [RefSeq, PubMed]; The distribution of neuroligin4, an autism-related postsynaptic molecule, in the human brain. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 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": 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": 2, "reported_glycation": 0, "reported_snv": 959, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6UX10;Q9ULG0", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0031404 chloride ion binding;GO:0050839 cell adhesion molecule binding;GO:0097110 scaffold protein binding;GO:0042043 neurexin family protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0003360 brainstem development;GO:0099054 presynapse assembly;GO:0007612 learning;GO:0030534 adult behavior;GO:0050808 synapse organization", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q8N0W4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100001001.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99742-1", "uniprot_id": [ { "id": "NPAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99742", "type": "external" } ], "mass": 62702.0, "length": 590, "protein_name": "Neuronal PAS domain-containing protein 1", "gene_name": "NPAS1", "organism": "Human", "refseq_name": "neuronal PAS domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001308015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308015", "type": "external" } ], "gene_names_uniprotkb": "NPAS1; BHLHE11; MOP5; PASD5", "gene_names_refseq": "MOP5; NPAS1; PASD5; bHLHe11", "protein_names_uniprotkb": "Neuronal PAS domain-containing protein 1; Basic-helix-loop-helix-PAS protein MOP5; Class E basic helix-loop-helix protein 11; Member of PAS protein 5; Neuronal PAS1; PAS domain-containing protein 5; bHLHe11", "protein_names_refseq": "PAS domain-containing protein 5; basic-helix-loop-helix-PAS protein MOP5; class E basic helix-loop-helix protein 11; member of PAS protein 5; member of PAS superfamily 5; neuronal PAS domain-containing protein 1 isoform 2; neuronal PAS domain-containing protein 1; neuronal PAS1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4861)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;25892735;27782878;28499489;30379171;32161166;33968037;35051231;35580925;36010968;9012850;9079689", "class_list": "", "function": "Here the authors examined the crystal structures of multi-domain NPAS1-ARNT and NPAS3-ARNT-DNA complexes, discovering each to contain four putative ligand-binding pockets. Publication Status: Online-Only, [RefSeq, PubMed]; May control regulatory pathways relevant to schizophrenia and to psychotic illness. May play a role in late central nervous system development by modulating EPO expression in response to cellular oxygen level (By similarity). Forms a heterodimer that binds core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) leading to transcriptional repression on its target gene TH (By similarity)., [UniProtKB, UniProtKB]; Study provides a clear, unbiased view of the full spectrum of genes regulated by NPAS1 and NPAS3 and shows that these transcription factors are master regulators of neuropsychiatric function. These findings expose the molecular pathophysiology of NPAS1/3 mutations and provide a striking example of the shared, combinatorial nature of molecular pathways that underlie diagnostically distinct neuropsychiatric conditions., [RefSeq, PubMed]; The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DR69;Q99632;Q9BY83", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0046982 protein heterodimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q99742-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5BJF6-1", "uniprot_id": [ { "id": "ODFP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5BJF6", "type": "external" } ], "mass": 95401.0, "length": 829, "protein_name": "Outer dense fiber protein 2", "gene_name": "ODF2", "organism": "Human", "refseq_name": "outer dense fiber protein 2 isoform 11", "refseq_ac": [ { "id": "NP_001229281", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229281", "type": "external" } ], "gene_names_uniprotkb": "ODF2", "gene_names_refseq": "CT134; ODF2/1; ODF2/2; ODF2; ODF84", "protein_names_uniprotkb": "Outer dense fiber protein 2; Cenexin; Outer dense fiber of sperm tails protein 2", "protein_names_refseq": "cancer/testis antigen 134; cenexin 1; outer dense fiber of sperm tails, 84-kD; outer dense fiber protein 2 isoform 11; sperm tail structural protein; testis tissue sperm-binding protein Li 51e", "tax_id": 9606, "disease": "microcephaly (Disease Ontology:DOID:10907)", "pathway": " (hsa:4957); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 138, "publication_id_list": "10381817;11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;16966375;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22544926;22641346;22645359;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24366607;24469809;24982133;25047611;25313408;25532896;25576301;26154972;26992070;27846572;27862975;27920218;28063628;28228285;28649982;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30429286;30524438;30683861;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33402344;33592498;33691108;33717175;33784796;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35119360;35580925;35609215;36010968;36215666;36241641;37086632;37217939;37938771;7769006;7790358;8838651;9740324", "class_list": "", "function": "Alpha-/gamma-Taxilin are required for centriolar subdistal appendage assembly and microtubule organization. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-targeting in spermatogenesis: Over-expressions of microRNA-23a/b-3p and its affected targeting of the genes ODF2 and UBQLN3 in spermatozoa of patients with oligoasthenozoospermia., [RefSeq, PubMed]; Mouse and rat ODF2 protein homolog sequences and expression are compared., [RefSeq, PubMed]; Pericentriolar matrix (PCM) integrity relies on cenexin and polo-like kinase (PLK)1., [RefSeq, PubMed]; Seems to be a major component of sperm tail outer dense fibers (ODF). ODFs are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail. May have a modulating influence on sperm motility. Functions as a general scaffold protein that is specifically localized at the distal/subdistal appendages of mother centrioles. Component of the centrosome matrix required for the localization of PLK1 and NIN to the centrosomes. Required for the formation and/or maintenance of normal CETN1 assembly., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Sperm DNA fragmentation and apoptosis in the sperm of men with oligozoospermia are closely related to anti-ODF2 autoantibodies., [RefSeq, PubMed]; The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Alternative splicing results in multiple transcript variants. The longer transcripts, also known as 'Cenexins', encode proteins with a C-terminal extension that are differentially targeted to somatic centrioles and thought to be crucial for the formation of microtubule organizing centers. [provided by RefSeq, Oct 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B1AND3;B4DRK4;B4DX73;B4DZ02;E7EWL2;F5H6J4;O14721;O60631;Q1W2J6;Q6UN26;Q7Z5I6;Q96FN2", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0008104 intracellular protein localization;GO:1902017 regulation of cilium assembly;GO:0010457 centriole-centriole cohesion", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "Q5BJF6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78549-2", "uniprot_id": [ { "id": "NTH_HUMAN", "url": "https://www.uniprot.org/uniprot/P78549", "type": "external" } ], "mass": 33570.0, "length": 304, "protein_name": "Endonuclease III-like protein 1", "gene_name": "NTHL1", "organism": "Human", "refseq_name": "endonuclease III-like protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001305123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305123", "type": "external" } ], "gene_names_uniprotkb": "NTHL1; NTH1; OCTS3", "gene_names_refseq": "FAP3; NTH1; NTHL1; OCTS3; hNTH1", "protein_names_uniprotkb": "Endonuclease III-like protein 1; 3.2.2.-; 4.2.99.18; Bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase; DNA glycosylase/AP lyase; hNTH1", "protein_names_refseq": "DNA glycoslyase/AP lyase; DNA glycosylase/AP lyase; bifunctional DNA N-glycoslyase/DNA-(apurinic or apyrimidinic site) lyase; bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase; endonuclease III-like protein 1 isoform 3; endonuclease III-like protein 1; nth endonuclease III-like 1", "tax_id": 9606, "disease": "familial adenomatous polyposis 3 (Disease Ontology:DOID:0080411)", "pathway": " (hsa:4913); (R-HSA-110328); (R-HSA-110329); (R-HSA-110357); (R-HSA-9630221); (R-HSA-9630222)", "pathway_count": 6, "publication_count": 76, "publication_id_list": "10074426;10882850;10930409;11056019;11139613;11160897;11287425;11328882;11380260;11695910;11889051;11904416;12097317;12140329;12144783;12456671;12519758;12531031;12718543;14734554;15341901;15479784;15533839;15713479;15823533;16221681;17537817;17923696;18805789;18991276;20005182;20068231;20110254;21406692;21722948;21930793;22569481;22848106;22962365;23186163;23481700;23940330;25086253;25892735;25938944;26095805;26375851;27354518;27713038;27920218;28228285;28649982;28832583;28834231;29242379;29508533;29610152;29632711;31092671;36279116;36581342;38036545;38483510;8218289;8407958;8662714;8990169;9045706;9200707;9611236;9705289;9724657;9811839;9831664;9890904;9927729", "class_list": "", "function": "Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage (PubMed:29610152, PubMed:9927729). The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines. Also has 8-oxo-7,8-dihydroguanine (8-oxoG) DNA glycosylase activity. Acts preferentially on DNA damage opposite guanine residues in DNA. Is able to process lesions in nucleosomes without requiring or inducing nucleosome disruption., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, HAMAP, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Concurrent Reduced Expression of Contiguous PKD1, TSC2 and NTHL1 Leading to Kidney Diseases and Multiple Diverse Renal Cancers., [RefSeq, PubMed]; Enhanced Sampling for Conformational Changes and Molecular Mechanisms of Human NTHL1., [RefSeq, PubMed]; Human endonuclease III/NTH1: focusing on the [4Fe-4S] cluster and the N-terminal domain. Publication Status: Online-Only, [RefSeq, PubMed]; NTHL1 is a recessive cancer susceptibility gene. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [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": 2, "reported_mutagensis": 7, "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": "Q1MVR1;Q99566;Q99794;Q9BPX2", "ec_number_list": [ { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "1.14.11.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.51", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.33", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.33", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0003684 damaged DNA binding;GO:0019104 DNA N-glycosylase activity;GO:0003690 double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0006289 nucleotide-excision repair;GO:0006285 base-excision repair, AP site formation;GO:0045008 depyrimidination", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P78549-2", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95436-1", "uniprot_id": [ { "id": "NPT2B_HUMAN", "url": "https://www.uniprot.org/uniprot/O95436", "type": "external" } ], "mass": 75759.0, "length": 690, "protein_name": "Sodium-dependent phosphate transport protein 2B", "gene_name": "SLC34A2", "organism": "Human", "refseq_name": "sodium-dependent phosphate transport protein 2B isoform b", "refseq_ac": [ { "id": "NP_001171469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469", "type": "external" } ], "gene_names_uniprotkb": "SLC34A2", "gene_names_refseq": "NAPI-3B; NAPI-IIb; NPTIIb; NaPi2b; PULAM; SLC34A2", "protein_names_uniprotkb": "Sodium-dependent phosphate transport protein 2B; Na(+)-dependent phosphate cotransporter 2B; Na(+)/Pi cotransporter 2B; NaPi-2b; NaPi3b; Sodium-phosphate transport protein 2B; Sodium/phosphate cotransporter 2B; Solute carrier family 34 member 2", "protein_names_refseq": "sodium-dependent phosphate transport protein 2B isoform b; sodium-dependent phosphate transport protein 2B; sodium/phosphate cotransporter 2B; solute carrier family 34 (sodium phosphate), member 2; solute carrier family 34 (type II sodium/phosphate cotransporter), member 2; type II sodium-dependent phosphate transporter 3b", "tax_id": 9606, "disease": "pulmonary alveolar microlithiasis (Disease Ontology:DOID:12117)", "pathway": " (hsa:10568); (R-HSA-427589); (R-HSA-5619045); (R-HSA-5683826); (R-HSA-5687583)", "pathway_count": 5, "publication_count": 79, "publication_id_list": "10198426;10329428;10368295;10485905;10496952;10580105;10610722;10625644;11171583;11237011;11278984;11563989;11880379;12185598;12324554;12379267;12661006;12882447;1325798;1339284;1415726;1568474;15926889;16006481;16199866;16358214;1636732;16423266;16630564;16960801;17496061;18020944;18692472;1898081;19100526;19144824;1928448;19824815;20017296;20054143;20147294;20338813;20418254;22311166;23069847;23164546;23590306;23684610;23922714;24743970;2515193;25424900;2587265;2610270;29093164;29557506;29786170;2995821;3037072;30379171;32157095;3366248;34631;34944522;35051231;35443721;35580925;37259144;3755136;3801783;38720472;7597036;8314870;8327470;8428971;8522976;8527267;8636114;9813380", "class_list": "", "function": "Characterization of SLC34A2 as a Potential Prognostic Marker of Oncological Diseases. Publication Status: Online-Only, [RefSeq, PubMed]; Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in actively transporting phosphate into cells via Na(+) cotransport., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review. Publication Status: Online-Only, [RefSeq, PubMed]; SLC34A2 promotes cell proliferation by activating STX17-mediated autophagy in esophageal squamous cell carcinoma., [RefSeq, PubMed]; The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A5PL17;Q8N2K2;Q8WYA9;Q9P0V7", "ec_number_list": [], "go_molecular_function": "GO:0042301 phosphate ion binding;GO:0031402 sodium ion binding;GO:0005436 sodium:phosphate symporter activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005903 brush border;GO:0016020 membrane", "go_biological_process": "GO:0043627 response to estrogen;GO:0006817 phosphate ion transport;GO:0035435 phosphate ion transmembrane transport;GO:0030643 intracellular phosphate ion homeostasis;GO:0044341 sodium-dependent phosphate transport", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O95436-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6F6-9", "uniprot_id": [ { "id": "IRAG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6F6", "type": "external" } ], "mass": 97957.0, "length": 904, "protein_name": "Inositol 1,4,5-triphosphate receptor associated 1", "gene_name": "IRAG1", "organism": "Human", "refseq_name": "inositol 1,4,5-triphosphate receptor associated 1 isoform a", "refseq_ac": [ { "id": "NP_001092049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092049", "type": "external" } ], "gene_names_uniprotkb": "IRAG1; IRAG; JAW1L; MRVI1", "gene_names_refseq": "IRAG1; IRAG; JAW1L; MRVI1", "protein_names_uniprotkb": "Inositol 1,4,5-triphosphate receptor associated 1; Inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate; JAW1-related protein MRVI1; Protein MRVI1", "protein_names_refseq": "IP3R-associated cGMP kinase substrate; JAW1-related protein MRVI1; inositol 1,4,5-triphosphate receptor associated 1 isoform a; inositol 1,4,5-triphosphate receptor-associated cGMP kinase substrate; inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate; murine retrovirus integration site 1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:10335); (R-HSA-418457)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10.1101/2023.09.13.557529;10321731;14729908;16990611;17312387;20567233;23481700;24275569;28832583;29242379;29557506;29786170;31085718;31844290;32573102;32589066;32938616;35051231;35580925;8557689", "class_list": "", "function": "Forced expression of MRVI1 in miR-940 mimic transfected cells abolished the facilitation of miR-940 on cell proliferation, migration, and invasion of RL95-2 and KLE cells. In conclusion, our study demonstrates that miR-940 might function as a reliable diagnostic and prognostic signature in endometrial carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia., [RefSeq, PubMed]; IRAG appears to be essentially involved in the NO/cGK-dependent inhibition of InsP(3)-dependent Ca(2+)-signaling in colonic smooth muscle, [RefSeq, PubMed]; IRAG is required for PKG1beta-regulated cyclic calcium release during motility of osteoclasts, [RefSeq, PubMed]; P53-induced MRVI1 mediates carcinogenesis of colorectal cancer., [RefSeq, PubMed]; Plays a role as NO/PRKG1-dependent regulator of IP3-induced calcium release; its phosphorylation by PRKG1 inhibits bradykinin and IP3-induced calcium release from intracellular stores. Recruits PRKG1 to the endoplasmic reticulum and may mediate the assembly of PRKG1 and ITPR1 in a macrocomplex. Involved in PRKG1 signaling cascade leading to inhibition of platelet activation and aggregation. Also mediates NO-dependent inhibition of calcium signaling in gastrointestinal smooth muscle contributing to NO-dependent relaxation (PubMed:14729908). Plays a role in the regulation of cellular excitability by regulating the hyperpolarization-activated cyclic nucleotide-gated HCN4 channel activity (By similarity)., [UniProtKB, PubMed, UniProtKB]; Reports use of non-AUG (CUG) translation initiation codon in one of the transcript variants of MRVI1 gene in mouse and human., [RefSeq, PubMed]; This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is down-regulated during lymphoid differentiation. This protein is a substrate of cGMP-dependent kinase-1 (PKG1) that can function as a regulator of IP3-induced calcium release. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, and alternative translation start sites, including a non-AUG (CUG) start site, are used. [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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7Z3T4;B7Z6I2;B7Z9A3;E9PQY6;F5H6A1;J3KQZ7;Q17S00;Q9UNY1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane;GO:0016529 sarcoplasmic reticulum;GO:0031095 platelet dense tubular network membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9Y6F6-9", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14841-1", "uniprot_id": [ { "id": "OPLA_HUMAN", "url": "https://www.uniprot.org/uniprot/O14841", "type": "external" } ], "mass": 137457.0, "length": 1288, "protein_name": "5-oxoprolinase", "gene_name": "OPLAH", "organism": "Human", "refseq_name": "5-oxoprolinase", "refseq_ac": [ { "id": "NP_060040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060040", "type": "external" } ], "gene_names_uniprotkb": "OPLAH", "gene_names_refseq": "5-Opase; OPLAHD; OPLAH; OPLA", "protein_names_uniprotkb": "5-oxoprolinase; 3.5.2.9; 5-OPase; 5-oxo-L-prolinase; Pyroglutamase", "protein_names_refseq": "5-oxo-L-prolinase; 5-oxoprolinase; pyroglutamase", "tax_id": 9606, "disease": "5-oxoprolinase deficiency (MONDO:MONDO:0009825)", "pathway": " (hsa:26873); (R-HSA-174403); (R-HSA-5578998)", "pathway_count": 3, "publication_count": 53, "publication_id_list": "10369661;11237011;12473676;14993790;17924658;18357469;18515354;19109178;19463;20068231;20413906;21651516;21712391;23186163;23430506;23682772;24715725;25576301;25645385;2573352;25851806;25931127;26375851;26992070;27477828;29437277;29557506;30397120;30429286;30620550;31154438;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32938616;32983136;33298915;33968037;34185709;34509645;35051231;35580925;36284347;7646467;7826375;8813074;9080;9516961;9675072", "class_list": "", "function": "An autosomal recessive mode of inheritance for 5-oxoprolinase deficiency is further supported by the identification of a single mutation in all 9/14 parent sample sets investigated (except for the father of one patient whose result suggests homozygosity), and the absence of 5-oxoprolinuria in all tested heterozygotes, [RefSeq, PubMed]; Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate., [UniProtKB, UniProtKB]; In this study, clinical, biochemical, and genetic aspects of five Chinese 5-oxoprolinuria patients with OPLAH or GSS gene mutations were investigated., [RefSeq, PubMed]; The cause of cellular ATP depletion in nephrotic cystinosis may be the futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase, [RefSeq, PubMed]; The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [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": 3, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5PKY8;Q75W65;Q9Y4Q0", "ec_number_list": [ { "id": "3.5.2.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.9", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0017168 5-oxoprolinase (ATP-hydrolyzing) activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "O14841-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06495-1", "uniprot_id": [ { "id": "NPT2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06495", "type": "external" } ], "mass": 68937.0, "length": 639, "protein_name": "Sodium-dependent phosphate transport protein 2A", "gene_name": "SLC34A1", "organism": "Human", "refseq_name": "sodium-dependent phosphate transport protein 2A isoform 2", "refseq_ac": [ { "id": "NP_001161051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161051", "type": "external" } ], "gene_names_uniprotkb": "SLC34A1; NPT2; SLC17A2", "gene_names_refseq": "FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2; NPTIIa; SLC11; SLC17A2; SLC34A1", "protein_names_uniprotkb": "Sodium-dependent phosphate transport protein 2A; Na(+)-dependent phosphate cotransporter 2A; Na(+)/Pi cotransporter 2A; NaPi-2a; NaPi-3; Sodium-phosphate transport protein 2A; Sodium/phosphate cotransporter 2A; Solute carrier family 34 member 1", "protein_names_refseq": "Na(+)-dependent phosphate cotransporter 2A; Na(+)/Pi cotransporter 2A; Na+-phosphate cotransporter type II; naPi-2a; renal sodium-dependent phosphate transporter; sodium-dependent phosphate transport protein 2A isoform 2; sodium-dependent phosphate transport protein 2A; sodium-phosphate transport protein 2A; sodium/phosphate co-transporter; sodium/phosphate cotransporter 2A; solute carrier family 17 (sodium phosphate), member 2; solute carrier family 34 (sodium phosphate), member 1; solute carrier family 34 (type II sodium/phosphate cotransporter), member 1", "tax_id": 9606, "disease": "hypophosphatemia (Disease Ontology:DOID:0050336); hereditary hypophosphatemic rickets with hypercalciuria (Disease Ontology:DOID:0050947); infantile hypercalcemia 2 (Disease Ontology:DOID:0061135); hypophosphatemic nephrolithiasis/osteoporosis 1 (Disease Ontology:DOID:0080077); hypophosphatemic nephrolithiasis/osteoporosis (Disease Ontology:DOID:0080655); Fanconi renotubular syndrome 2 (Disease Ontology:DOID:0080758); Fanconi syndrome (Disease Ontology:DOID:1062); hypothyroidism (Disease Ontology:DOID:1459); nephrolithiasis (Disease Ontology:DOID:585); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); hyperthyroidism (Disease Ontology:DOID:7998); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:6569); (R-HSA-427589); (R-HSA-5619040); (R-HSA-5683826)", "pathway_count": 4, "publication_count": 72, "publication_id_list": "10198426;10329428;10368295;10485905;10496952;10580105;10625644;11237011;11278984;11563989;11880379;12185598;12324554;12379267;12882447;1325798;1339284;1415726;1568474;15926889;16006481;16199866;16358214;1636732;16423266;16630564;16960801;17496061;18020944;18692472;1898081;19100526;19144824;1928448;19824815;20054143;20147294;20335586;20338813;20418254;22506049;23069847;23590306;23684610;23922714;24743970;2515193;25424900;2587265;26047794;2610270;29557506;2995821;3037072;3366248;34631;35051231;35414099;36241641;36762943;3755136;3801783;38504242;39293332;7597036;8314870;8327470;8428971;8522976;8527267;8636114;9813380", "class_list": "", "function": "Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia. Publication Status: Online-Only, [RefSeq, PubMed]; Distinct and overlapping RGS14 and RGS12 actions regulate NPT2A-mediated phosphate transport., [RefSeq, PubMed]; High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture., [RefSeq, PubMed]; Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane (PubMed:12324554, PubMed:20335586, PubMed:26047794, PubMed:8327470). The cotransport has a Na(+):Pi stoichiometry of 3:1 and is electrogenic (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 13, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DPE3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0030165 PDZ domain binding;GO:0005436 sodium:phosphate symporter activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0005903 brush border;GO:0009986 cell surface;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0097187 dentinogenesis;GO:0010288 response to lead ion;GO:0001822 kidney development;GO:0046686 response to cadmium ion;GO:0032355 response to estradiol", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q06495-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXD5-1", "uniprot_id": [ { "id": "NPL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXD5", "type": "external" } ], "mass": 35163.0, "length": 320, "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "organism": "Human", "refseq_name": "N-acetylneuraminate lyase isoform 2", "refseq_ac": [ { "id": "NP_001186979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186979", "type": "external" } ], "gene_names_uniprotkb": "NPL; C1orf13", "gene_names_refseq": "C112; C1orf13; NAL; NPL1; NPL", "protein_names_uniprotkb": "N-acetylneuraminate lyase; 4.1.3.3; N-acetylneuraminate pyruvate-lyase; N-acetylneuraminic acid aldolase; NALase; Sialate lyase; Sialate-pyruvate lyase; Sialic acid aldolase; Sialic acid lyase", "protein_names_refseq": "N-acetylneuraminate lyase isoform 2; N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase); N-acetylneuraminic acid aldolase; NALase; dihydrodipicolinate synthetase homolog 1; sialate-pyruvate lyase; sialic acid aldolase", "tax_id": 9606, "disease": "myopathy (Disease Ontology:DOID:423)", "pathway": " (hsa:80896); (R-HSA-4085001)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10742600;10749855;10861246;10947946;11062056;11237011;11279095;11318611;11528398;11602804;11751519;11916006;12177386;12235148;12473780;12603328;12668675;12743242;14962670;15136692;15213228;15501818;15576474;16147865;16237198;17074750;17123352;1756715;18632803;19057931;19797320;21081508;22544926;22692205;23481700;25645385;26154972;26375851;27600516;28832583;29242379;29508533;29557506;29786170;30429286;30524438;31154438;3136930;31530632;31844290;31848261;31937595;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33895133;33936100;33968037;34171305;34211107;34405274;34509645;35051231;35580925;36284347;37938771;7252518;7559389;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9199191;9822625;9826427", "class_list": "glycogene", "function": "3D structure model of N-acetylneuraminate lyase from human (hNAL, EC 4.1.3.3) was created and refined, [RefSeq, PubMed]; An NPL splice variant is mainly expressed in human liver, kidney and peripheral blood leukocytes, [RefSeq, PubMed]; Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate (PubMed:33895133). It prevents sialic acids from being recycled and returning to the cell surface (PubMed:33895133). Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway (PubMed:22692205, PubMed:33895133). Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (Probable)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 370, "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": "B2R839;Q4G0Q8;Q4G0Z2;Q64L88;Q6PEL0", "ec_number_list": [ { "id": "4.1.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.3", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0008747 N-acetylneuraminate lyase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0019262 N-acetylneuraminate catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9BXD5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15738-1", "uniprot_id": [ { "id": "NSDHL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15738", "type": "external" } ], "mass": 41900.0, "length": 373, "protein_name": "Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating", "gene_name": "NSDHL", "organism": "Human", "refseq_name": "sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating", "refseq_ac": [ { "id": "NP_001123237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237", "type": "external" } ], "gene_names_uniprotkb": "NSDHL; H105E3", "gene_names_refseq": "H105E3; NSDHL; SDR31E1; XAP104", "protein_names_uniprotkb": "Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; 1.1.1.170; Protein H105e3", "protein_names_refseq": "3-beta-hydroxysteroid dehydrogenase; 3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating); NAD(P) dependent steroid dehydrogenase-like protein transcript; epididymis secretory sperm binding protein; protein H105e3; short chain dehydrogenase/reductase family 31E, member 1; sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating", "tax_id": 9606, "disease": "X-linked chondrodysplasia punctata 1 (Disease Ontology:DOID:0060292); CHILD syndrome (Disease Ontology:DOID:0111822); CK syndrome (Disease Ontology:DOID:0111898); Bloch-Sulzberger syndrome (Disease Ontology:DOID:12305); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:50814); (R-HSA-6807047); (R-HSA-6807062)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10369263;10391218;10391219;10710235;10854409;11237011;11519011;11907515;12189593;12618959;12812989;12829805;14404284;14506130;16784888;21129721;21285510;22223895;22424782;23050906;23186163;23481700;24715725;25418920;25892735;26375851;26992070;28228285;28832583;28834231;28904123;29242379;29317506;29393594;29557506;29632046;29769354;30315122;30418433;30429286;31217245;31844290;32119511;32140747;32157095;32265295;32350084;32357974;32366230;32387766;32938616;33169834;33219617;33298915;33592498;33691108;33717175;33864166;33936100;33968037;34357683;34509645;34725712;34932366;35051231;35251023;36010968;36215666;36284347;40914422;8619637;8663358;8797093;8828036;9465114", "class_list": "", "function": "CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G., [RefSeq, PubMed]; Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity). Also plays a role in the regulation of the endocytic trafficking of EGFR (By similarity)., [UniProtKB, UniProtKB]; NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics., [RefSeq, PubMed]; NSDHL promotes triple-negative breast cancer metastasis through the TGFbeta signaling pathway and cholesterol biosynthesis., [RefSeq, PubMed]; The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DWT6;O00344", "ec_number_list": [ { "id": "1.1.1.170", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.170", "type": "external" } ], "go_molecular_function": "GO:0003854 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0000252 3-beta-hydroxysteroid dehydrogenase [NAD(P)+]/C4-decarboxylase activity;GO:0102175 3-beta-hydroxysteroid dehydrogenase (NAD+)/C4-decarboxylase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008203 cholesterol metabolic process;GO:0006695 cholesterol biosynthetic process;GO:0033489 cholesterol biosynthetic process via desmosterol;GO:0033490 cholesterol biosynthetic process via lathosterol;GO:0036197 zymosterol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q15738-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13423-1", "uniprot_id": [ { "id": "NNTM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13423", "type": "external" } ], "mass": 113896.0, "length": 1086, "protein_name": "NAD(P) transhydrogenase, mitochondrial", "gene_name": "NNT", "organism": "Human", "refseq_name": "NAD(P) transhydrogenase, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_036475", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036475", "type": "external" } ], "gene_names_uniprotkb": "NNT", "gene_names_refseq": "GCCD4; NNT", "protein_names_uniprotkb": "NAD(P) transhydrogenase, mitochondrial; 7.1.1.1; Nicotinamide nucleotide transhydrogenase; Pyridine nucleotide transhydrogenase", "protein_names_refseq": "NAD(P) transhydrogenase, mitochondrial isoform 1; NAD(P) transhydrogenase, mitochondrial; pyridine nucleotide transhydrogenase", "tax_id": 9606, "disease": "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (Disease Ontology:DOID:0061243); familial glucocorticoid deficiency (Disease Ontology:DOID:0080620); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:23530); (R-HSA-71403)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "1052766;10673423;10727444;11237011;11278619;12207025;12791694;13181903;14249115;14555658;14832224;14946179;15234968;15323555;15652751;15877282;15987702;16143825;16737955;16740313;17182618;17432878;17668387;18806796;18914071;1946331;19608861;2005110;20112406;20435888;20847235;22634753;23564345;23747254;24715725;25564869;25576301;26154972;26811146;26992070;27189937;27374498;27846572;28887308;28904123;29557506;29632711;30315122;30410026;30761759;30844107;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33058874;33141586;33298915;33392160;33592498;33912179;33936100;33968037;34087483;34171305;34357683;34509645;34725712;35051231;35366151;35580925;35627102;36010968;36139014;36241641;36420423;36478070;37244254;37573896;38261461;38665916;8200987;8616157;9524818;9765290;9765291;9792106;9792662;9809442", "class_list": "", "function": "Coenzyme Q10 and nicotinamide nucleotide transhydrogenase: Sentinels for mitochondrial hydrogen peroxide signaling. Review article, [RefSeq, PubMed]; IL-1beta-associated NNT acetylation orchestrates iron-sulfur cluster maintenance and cancer immunotherapy resistance., [RefSeq, PubMed]; Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants. Erratum:[Eur J Endocrinol. 2024 Sep 30;191(4):X3. doi: 10.1093/ejendo/lvae118. PMID: 39361449], [RefSeq, PubMed]; Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Nicotinamide Nucleotide Transhydrogenase Is Essential for Adrenal Steroidogenesis: Clinical and In Vitro Lessons., [RefSeq, PubMed]; The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane (By similarity). May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland (PubMed:22634753)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q16796;Q2TB60;Q8N3V4", "ec_number_list": [ { "id": "7.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.1", "type": "external" } ], "go_molecular_function": "GO:0051287 NAD binding;GO:0050661 NADP binding;GO:0003957 NAD(P)+ transhydrogenase (Si-specific) activity;GO:0008750 proton-translocating NAD(P)+ transhydrogenase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0098803 respiratory chain complex", "go_biological_process": "GO:0033273 response to vitamin;GO:1903285 positive regulation of hydrogen peroxide catabolic process;GO:0006099 tricarboxylic acid cycle;GO:0043066 negative regulation of apoptotic process;GO:0045454 cell redox homeostasis", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q13423-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HD23-1", "uniprot_id": [ { "id": "MRS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HD23", "type": "external" } ], "mass": 50318.0, "length": 443, "protein_name": "Magnesium transporter MRS2 homolog, mitochondrial", "gene_name": "MRS2", "organism": "Human", "refseq_name": "magnesium transporter MRS2 homolog, mitochondrial isoform d", "refseq_ac": [ { "id": "NP_001273195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273195", "type": "external" } ], "gene_names_uniprotkb": "MRS2; HPT; MRS2L", "gene_names_refseq": "HPT; MRS2L; MRS2", "protein_names_uniprotkb": "Magnesium transporter MRS2 homolog, mitochondrial; MRS2-like protein", "protein_names_refseq": "MRS2, magnesium transporter; MRS2-like protein; MRS2-like, magnesium homeostasis factor; magnesium transporter MRS2 homolog, mitochondrial isoform d; magnesium transporter MRS2 homolog, mitochondrial; putative magnesium transporter", "tax_id": 9606, "disease": "Barth syndrome (Disease Ontology:DOID:0050476); demyelinating disease (Disease Ontology:DOID:3213)", "pathway": " (hsa:57380); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10571941;11237011;11326272;11326338;11401429;12297987;12297989;12951058;13130483;14984739;15804357;17166836;17322306;18057121;18347014;18384665;1840603;18930737;19242098;19262752;19270501;1955075;19608861;19717468;22119785;22649030;23169667;24725410;24790029;26620797;26635246;26824658;26992070;27102039;28218747;28228285;28904123;29437277;30524438;31217245;31844290;32157095;32387766;32938616;33298915;33968037;35051231;36754568;37543649;37938562;38599304;38989547;39609651;4018271;7615546;7619062;7749638;9114041;9537412", "class_list": "", "function": "By enhanced hsaMrs2p expression, p27 was downregulated whereas cyclinD1 was upregulatedin gastric cancer., [RefSeq, PubMed]; Cryo-EM structures of human magnesium channel MRS2 reveal gating and regulatory mechanisms. Publication Status: Online-Only, [RefSeq, PubMed]; HMrs2 is the major transport protein for Mg (+) uptake into mitochondria and that expression of hMrs2 is essential for the maintenance of respiratory complex I and cell viability., [RefSeq, PubMed]; MRS2 missense variation at Asp216 abrogates inhibitory Mg[2+] binding, potentiating cell migration and apoptosis resistance., [RefSeq, PubMed]; Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix and regulates magnesium metabolism. Also permeable to calcium, sodium and potassium ions. Required for normal expression of the mitochondrial respiratory complex I subunits. May play a role in maintaining the inner mitochondrial membrane potential., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Molecular basis of Mg[2+] permeation through the human mitochondrial Mrs2 channel. Publication Status: Online-Only, [RefSeq, PubMed]; Mrs2-mediated mitochondrial magnesium uptake is essential for the regulation of MCU-mediated mitochondrial Ca[2+] uptake and viability., [RefSeq, PubMed]; Multidrug resistance phenotypes is related to MRS2 mitochondrial magnesium channel., [RefSeq, PubMed]; The human MRS2 magnesium-binding domain is a regulatory feedback switch for channel activity. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K4U3;B3KNN2;B4DQL2;Q5T3Y1;Q6NTG4;Q96KF8;Q9BVP1", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0015095 magnesium ion transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0006089 lactate metabolic process;GO:0045016 mitochondrial magnesium ion transmembrane transport;GO:0006811 monoatomic ion transport", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9HD23-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58417-1", "uniprot_id": [ { "id": "NXPH1_HUMAN", "url": "https://www.uniprot.org/uniprot/P58417", "type": "external" } ], "mass": 31082.0, "length": 271, "protein_name": "Neurexophilin-1", "gene_name": "NXPH1", "organism": "Human", "refseq_name": "neurexophilin-1 precursor", "refseq_ac": [ { "id": "NP_689958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689958", "type": "external" } ], "gene_names_uniprotkb": "NXPH1; NPH1; Nbla00697", "gene_names_refseq": "NPH1; NXPH1; Nbla00697", "protein_names_uniprotkb": "Neurexophilin-1", "protein_names_refseq": "neurexophilin-1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:30010)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12141453;12880961;26410934;27160456;27817196;28134766;28411811;32533463;8699246", "class_list": "", "function": "A genome-wide association study (GWAS) identified loci associated with the plasma triglyceride (TG) response to omega-3 fatty acid (FA) supplementation in IQCJ, NXPH1, PHF17 and MYB. Publication Status: Online-Only, [RefSeq, PubMed]; Expression inversely correlated with N stage in pancreatic ductal adenocarcinoma, [RefSeq, PubMed]; Identification of SNPs within the IQCJ, NXPH1, PHF17 and MYB genes partly explaining the large interindividual variability observed in plasma triglyceride levels in response to an n-3 fatty acid supplementation, [RefSeq, PubMed]; In rat, neurexophilin 1 forms a very tight complex with neurexin I alpha., [RefSeq, PubMed]; In rat, the secreted ligand for alpha-neurexin, neurexophilin 1, is expressed in the postnatal olfactory bulb., [RefSeq, PubMed]; May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors., [UniProtKB]; May be signaling molecules that resemble neuropeptides., [UniProtKB, UniProtKB]; MiR-194-5p inhibits LPS-induced astrocytes activation by directly targeting neurexophilin 1., [RefSeq, PubMed]; The role of NXPH1 in in paranoid schizophrenia development in Russians., [RefSeq, PubMed]; This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q8NB31", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0043083 synaptic cleft;GO:0005576 extracellular region", "go_biological_process": "GO:0050804 modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "P58417-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56693-1", "uniprot_id": [ { "id": "SOX10_HUMAN", "url": "https://www.uniprot.org/uniprot/P56693", "type": "external" } ], "mass": 49911.0, "length": 466, "protein_name": "Transcription factor SOX-10", "gene_name": "SOX10", "organism": "Human", "refseq_name": "transcription factor SOX-10", "refseq_ac": [ { "id": "NP_008872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008872", "type": "external" } ], "gene_names_uniprotkb": "SOX10", "gene_names_refseq": "DOM; PCWH; SOX-10; SOX10; WS2E; WS4C; WS4", "protein_names_uniprotkb": "Transcription factor SOX-10", "protein_names_refseq": "SRY (sex determining region Y)-box 10; SRY-box 10; SRY-related HMG-box gene 10; dominant megacolon, mouse, human homolog of; transcription factor SOX-10", "tax_id": 9606, "disease": "PCWH syndrome (Disease Ontology:DOID:0090111); Waardenburg syndrome type 4C (Disease Ontology:DOID:0110955); Waardenburg syndrome type 2E (Disease Ontology:DOID:0110956); Hirschsprung's disease (Disease Ontology:DOID:10487); Kallmann syndrome (Disease Ontology:DOID:3614); Waardenburg syndrome (Disease Ontology:DOID:9258)", "pathway": " (hsa:6663); (R-HSA-9619665); (R-HSA-9764302); (R-HSA-9824585); (R-HSA-9856649)", "pathway_count": 5, "publication_count": 215, "publication_id_list": "10203854;10220111;10400691;10441344;10567402;10587587;10611221;10655586;10673502;10727776;10757804;10762540;10856243;11027551;11115854;11133365;11157804;11237011;11356866;11394999;11430795;11430802;11532965;11734543;11782409;11840323;11856727;11891324;11912130;11930005;11964381;12056842;12062444;12138193;12145339;12198163;12782656;12799134;1321344;14512514;14522948;14664827;14975237;15004559;15118077;15150276;15189448;15226305;15356632;1537333;1537334;15507434;15543135;15610069;15695336;15695812;15729346;15836632;15907797;16014379;16034366;16136673;16303920;16311519;16319321;16373334;16822840;16923174;1698554;1704008;17182843;17325040;1748288;17623675;17699610;17952075;17959798;17999358;18348274;18364357;18477386;18483556;18634568;18644867;18697795;18803322;18812475;19143832;19156870;19208381;19321787;19369195;19389701;19524539;19608861;19717472;19745155;1975954;19922439;20149798;20213556;20460180;20625412;20832498;21044070;21326363;21411665;21423190;21423191;21486943;21613327;21653862;21898658;21965087;22053691;22180461;22333914;22492709;22647378;22764250;22814607;23159739;23190890;23207919;23695165;23747866;23874858;24008336;24191038;24227709;24267888;24646194;24675079;25077900;25248477;25595898;25645385;25974668;26154972;26423937;26441514;26694611;27128622;27220739;27288457;27600516;27859941;27862975;28394346;28852375;29295999;29315345;29437277;29557506;29748249;29786170;29789417;30515787;30804224;31154438;31194875;31222486;31844290;31937595;32157095;32488085;32502341;32582212;32636443;32938616;33100333;33537174;33744299;33968037;34140478;35051231;35580127;36010968;36241641;36284347;37770430;38266920;38419387;38493096;38659011;5338216;7813420;7925941;7935840;7958932;8138712;8306979;8336698;8349731;8619637;8627307;8647822;8662541;8842374;8921401;9199364;9353119;9418958;9440696;9462749;9482253;9560246;9676189;9705348;9722528;9748295;9758418;9760192;9858769;9973413", "class_list": "", "function": "A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II., [RefSeq, PubMed]; Aberrant SOX10 and RET expressions in patients with Hirschsprung disease. Publication Status: Online-Only, [RefSeq, PubMed]; SOX10-Internal Tandem Duplications and PLAG1 or HMGA2 Fusions Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed Tumors., [RefSeq, PubMed]; This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that plays a central role in developing and mature glia (By similarity). Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination (By similarity). Once induced, MYRF cooperates with SOX10 to implement the myelination program (By similarity). Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087). Transcriptional activator of MBP, via binding to the gene promoter (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DV62;Q6FHW7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005741 mitochondrial outer membrane;GO:0000785 chromatin;GO:0005737 cytoplasm", "go_biological_process": "GO:0048484 enteric nervous system development;GO:0071393 cellular response to progesterone stimulus;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "P56693-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJ68-1", "uniprot_id": [ { "id": "MSRA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJ68", "type": "external" } ], "mass": 26132.0, "length": 235, "protein_name": "Mitochondrial peptide methionine sulfoxide reductase", "gene_name": "MSRA", "organism": "Human", "refseq_name": "mitochondrial peptide methionine sulfoxide reductase isoform b", "refseq_ac": [ { "id": "NP_001129142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129142", "type": "external" } ], "gene_names_uniprotkb": "MSRA", "gene_names_refseq": "MSRA; PMSR", "protein_names_uniprotkb": "Mitochondrial peptide methionine sulfoxide reductase; 1.8.4.11; PMSR; Peptide Met(O) reductase; Peptide-methionine (S)-S-oxide reductase; Protein-methionine-S-oxide reductase", "protein_names_refseq": "cytosolic methionine-S-sulfoxide reductase; mitochondrial peptide methionine sulfoxide reductase isoform b; mitochondrial peptide methionine sulfoxide reductase; peptide Met(O) reductase; peptide met (O) reductase; peptide-methionine (S)-S-oxide reductase", "tax_id": 9606, "disease": "", "pathway": " (hsa:4482); (R-HSA-5676934)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10375640;10452521;10567350;11237011;12039877;12220640;14759519;15199188;16364291;20368336;22332004;25576301;25645385;25807930;26992070;27846572;29789417;30429286;32157095;32357974;32488085;32938616;32983136;33717175;33912179;33968037;34674978;35051231;35580925;3624258;38665916;7592526", "class_list": "", "function": "Association of the methionine sulfoxide reductase A rs10903323 gene polymorphism with functional activity and oxidative modification of alpha-1-antitrypsin in COPD patients., [RefSeq, PubMed]; Catalyzes the reversible oxidation-reduction of methionine sulfoxide in proteins to methionine. Has an important function as a repair enzyme for proteins that have been inactivated by oxidation (PubMed:10452521, PubMed:12039877). Plays a crucial role in repairing oxidized methionine residues in key lens proteins, such as alpha-crystallin (CRYAA/CRYAB) and cytochrome c (CYCS), thereby restoring their function and maintaining lens transparency (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; MSRA is down-regulated during cell aging., [RefSeq, PubMed]; MsrA is present throughout the human lens, where it is likely to defend lens cells and their components against methionine oxidation, [RefSeq, PubMed]; This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 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": "E9PAS8;Q52TC4;Q549N4;Q66MI7", "ec_number_list": [ { "id": "1.8.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.11", "type": "external" } ], "go_molecular_function": "GO:0008113 peptide-methionine (S)-S-oxide reductase activity;GO:0033744 L-methionine:thioredoxin-disulfide S-oxidoreductase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0036211 protein modification process;GO:0006979 response to oxidative stress;GO:0034599 cellular response to oxidative stress;GO:0006555 methionine metabolic process;GO:0030091 protein repair", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9UJ68-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60906-1", "uniprot_id": [ { "id": "NSMA_HUMAN", "url": "https://www.uniprot.org/uniprot/O60906", "type": "external" } ], "mass": 47646.0, "length": 423, "protein_name": "Sphingomyelin phosphodiesterase 2", "gene_name": "SMPD2", "organism": "Human", "refseq_name": "sphingomyelin phosphodiesterase 2", "refseq_ac": [ { "id": "NP_003071", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003071", "type": "external" } ], "gene_names_uniprotkb": "SMPD2", "gene_names_refseq": "ISC1; NSMASE1; NSMASE; SMPD2", "protein_names_uniprotkb": "Sphingomyelin phosphodiesterase 2; 3.1.4.12; Lyso-PAF-PLC; Lyso-platelet-activating factor-phospholipase C; N-SMase; Neutral sphingomyelinase; nSMase1; nSMase", "protein_names_refseq": "N-SMase; lyso-PAF-PLC; lyso-platelet-activating factor-phospholipase C; neutral sphingomyelinase; sphingomyelin phosphodiesterase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6610); (R-HSA-193681); (R-HSA-5626978); (R-HSA-9840310)", "pathway_count": 4, "publication_count": 144, "publication_id_list": "10191093;10196694;10406958;10608884;10781797;10823942;10861246;10942779;10993717;11237011;11350180;11435466;11489889;11707436;11784319;12374214;12391233;12510003;12518053;12566438;12594539;12662933;12885774;12888274;12909021;1352293;1352993;14741383;15003450;15213228;15458386;15714521;15773042;15845354;16229686;16230343;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;1840600;18524657;1889421;1907800;1915858;19405096;19836391;2001789;20080539;20728381;23481700;235289;239890;24715725;25168245;25418920;2562955;25645385;25892735;26154972;26929215;2717620;27600516;27920218;28126847;28228285;28832583;29242379;29393594;29443946;29557506;2960521;29632046;2965147;29692406;2970528;2971395;29747811;2976757;29769354;29802621;3014515;3048308;3136930;31495489;3158659;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33141586;33392160;33717175;33912179;33936100;33968037;34171305;34211107;34357683;34509645;3456607;35051231;35494241;36010968;36581221;37904133;39894887;39940;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663014;8663398;8804427;8808629;8889578;8955159;8985184;9217013;9338580;9520418;9521684", "class_list": "", "function": "Catalyzes, at least in vitro, the hydrolysis of sphingomyelin to form ceramide and phosphocholine (PubMed:10608884). Also hydrolyzes 1-O-alkyl-2-lyso-sn-glycero-3-phosphocholine (lyso-platelet-activating factor) in vivo (PubMed:10608884). Also acts on 1-acyl-2-lyso-sn-glycero-3-phosphocholine (lyso-PC) and sphingosylphosphocholine (PubMed:10608884, PubMed:14741383)., [UniProtKB, PubMed, PubMed]; Neutral sphingomyelinase inhibition promotes local and network degeneration in vitro and in vivo. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5TED1;Q9BWR3", "ec_number_list": [ { "id": "3.1.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.12", "type": "external" }, { "id": "3.1.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.3", "type": "external" }, { "id": "3.1.4.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.38", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008081 phosphoric diester hydrolase activity;GO:0004767 sphingomyelin phosphodiesterase activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0071944 cell periphery;GO:0005901 caveola", "go_biological_process": "GO:0030149 sphingolipid catabolic process;GO:0035556 intracellular signal transduction;GO:0046513 ceramide biosynthetic process;GO:0009612 response to mechanical stimulus;GO:0006685 sphingomyelin catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "O60906-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IY1-1", "uniprot_id": [ { "id": "NSL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IY1", "type": "external" } ], "mass": 32162.0, "length": 281, "protein_name": "Kinetochore-associated protein NSL1 homolog", "gene_name": "NSL1", "organism": "Human", "refseq_name": "kinetochore-associated protein NSL1 homolog isoform 2", "refseq_ac": [ { "id": "NP_001036014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036014", "type": "external" } ], "gene_names_uniprotkb": "NSL1; C1orf48; DC31; DC8; MIS14", "gene_names_refseq": "C1orf48; DC8; MIS14; NSL1", "protein_names_uniprotkb": "Kinetochore-associated protein NSL1 homolog", "protein_names_refseq": "NSL1, MIND kinetochore complex component, homolog; NSL1, MIS12 kinetochore complex component; kinetochore-associated protein NSL1 homolog isoform 2; kinetochore-associated protein NSL1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:25936); (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": 123, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15502821;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16565220;16585270;16622419;16622420;16682347;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;1737036;17525332;17981135;18001770;18097444;18669648;18716626;18923426;19007248;19350017;19651622;19691289;19696148;19815554;19965387;20030946;20068231;20101212;20231385;20591975;21111234;21148482;21397845;21576392;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23186163;23222643;23301498;23481700;23801653;24914801;25418920;25576301;25740311;25789526;26992070;27862975;27920218;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;31154438;31217245;31409757;31530632;31844290;31848261;32157095;32161166;32265295;32502341;32938616;33298915;33592498;33912179;33936100;33968037;34171305;34260926;35051231;35580925;9649308;9649503;9892021", "class_list": "", "function": "Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis., [UniProtKB, PubMed]; The hMis14, which contains a tripartite-binding domain for HP1 and two other kinetochore proteins, hMis13 and blinkin, is a cornerstone for the assembly of the inner centromere and kinetochore., [RefSeq, PubMed]; This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E7ETD5;Q5SY75;Q9H2M5;Q9NRN8;Q9Y415", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0000776 kinetochore", "go_biological_process": "GO:0008608 attachment of spindle microtubules to kinetochore;GO:0051301 cell division;GO:0000070 mitotic sister chromatid segregation", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q96IY1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95190-1", "uniprot_id": [ { "id": "OAZ2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95190", "type": "external" } ], "mass": 21011.0, "length": 189, "protein_name": "Ornithine decarboxylase antizyme 2", "gene_name": "OAZ2", "organism": "Human", "refseq_name": "ornithine decarboxylase antizyme 2 isoform 1", "refseq_ac": [ { "id": "NP_002528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002528", "type": "external" } ], "gene_names_uniprotkb": "OAZ2", "gene_names_refseq": "AZ2; OAZ2", "protein_names_uniprotkb": "Ornithine decarboxylase antizyme 2; AZ2; ODC-Az 2", "protein_names_refseq": "ODC-Az 2; ornithine decarboxylase antizyme 2 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4947); (R-HSA-350562); (R-HSA-351202)", "pathway_count": 3, "publication_count": 35, "publication_id_list": "10352227;10623504;11237011;11583147;12359729;12660156;15749015;17407445;17585781;17900240;18367445;19725046;2069720;26443277;26992070;28904123;29557506;30175154;30429286;31092671;31154438;31844290;32161166;32488085;32983136;33691108;33968037;34171305;34932366;35051231;35580925;36284347;7546290;7811704;9782076", "class_list": "", "function": "Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimers. Does not target the ODC monomers for degradation, which allows a protein synthesis-independent restoration of ODC activity (PubMed:17900240). Involved in the translocation of AZIN2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol (By similarity)., [UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamines. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 2, the second member of the antizyme family. Like antizyme 1, antizyme 2 has broad tissue distribution, inhibits ODC activity and polyamine uptake, and stimulates ODC degradation in vivo; however, it fails to promote ODC degradation in vitro. Antizyme 2 is expressed at lower levels than antizyme 1, but is evolutionary more conserved, suggesting it likely has an important biological role. Studies also show different subcellular localization of antizymes 1 and 2, indicating specific function for each antizyme in discrete compartments of the cell. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]., [RefSeq]; The protein product is generated using polyamine-regulated programmed ribosomal frameshifting., [RefSeq, PubMed]; This study reveals a critical role of miR-34a/OAZ2 cascade in conferring a proper cellular response to colon cancer chemotherapy Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008073 ornithine decarboxylase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1902268 negative regulation of polyamine transmembrane transport;GO:0090316 positive regulation of intracellular protein transport;GO:0045732 positive regulation of protein catabolic process;GO:0006596 polyamine biosynthetic process;GO:0006595 polyamine metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "O95190-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56975-1", "uniprot_id": [ { "id": "NRG3_HUMAN", "url": "https://www.uniprot.org/uniprot/P56975", "type": "external" } ], "mass": 77901.0, "length": 720, "protein_name": "Pro-neuregulin-3, membrane-bound isoform", "gene_name": "NRG3", "organism": "Human", "refseq_name": "pro-neuregulin-3, membrane-bound isoform isoform 1", "refseq_ac": [ { "id": "NP_001010848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010848", "type": "external" } ], "gene_names_uniprotkb": "NRG3", "gene_names_refseq": "HRG3; NRG3; pro-NRG3", "protein_names_uniprotkb": "Pro-neuregulin-3, membrane-bound isoform; Pro-NRG3", "protein_names_refseq": "neuregulin-3-like polypeptide; pro-neuregulin-3, membrane-bound isoform isoform 1", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:10718); (R-HSA-1227986); (R-HSA-1236394); (R-HSA-1250196); (R-HSA-1250342); (R-HSA-1250347); (R-HSA-1251985); (R-HSA-1257604); (R-HSA-1963640); (R-HSA-1963642); (R-HSA-2219530); (R-HSA-5673001); (R-HSA-6785631); (R-HSA-6811558); (R-HSA-8847993); (R-HSA-8863795); (R-HSA-9664565); (R-HSA-9665686)", "pathway_count": 18, "publication_count": 209, "publication_id_list": "10.1038/emboj.2013.79;10191262;10508167;10722704;10867024;10869344;10878805;11027663;11071886;11090077;11136978;11147812;11237011;11313946;11432829;11546808;11679632;11702783;11803464;12032311;12052829;12094235;12121613;12167717;12239347;12651161;12767043;12807903;1325671;14506247;14660651;14707138;15023535;15059917;15156151;15356145;1545823;15534001;15546878;15568014;15643424;15718470;15834429;16061658;16339315;16456541;16478787;16627759;16647110;16684964;16843263;1688559;16912174;16978839;17018285;17030621;1706616;1716764;17200115;17311002;17545517;17598910;17626883;17652160;17998941;18039657;18045866;18079394;18317450;18413839;18594509;18606717;18653779;18719096;18721752;18754654;18755892;18775330;18829560;18925875;18955552;1898771;19047365;19185485;19279408;19411071;19576174;19596786;19644473;1973074;19805105;19920141;19933325;19962665;2022652;20231295;20338997;20478380;20522708;20713702;20937854;21102635;21188471;21317208;21368164;21372320;21376233;21478295;21668414;21779497;21779505;21827948;21840311;21976531;21984976;21993244;22046346;22120714;22188813;22569528;22588880;22589270;22750304;22802530;23103841;23220880;23230144;23303910;23443682;23575685;23584533;23843458;23846654;23948973;24308844;24715725;24829397;24897931;24937142;24971884;25081058;25219551;2543678;25781681;25853726;25994018;26085527;26375550;26545934;28274957;28778966;29242379;29967253;30287910;30301790;30314968;30449325;30854046;31135801;31753594;31844290;32066712;33392160;34171305;34247340;35051231;35154160;35579602;37217939;6148751;7478576;7541030;7542744;7556068;7565730;7637810;7744773;7809086;7929212;7929214;7935463;7970720;7972015;8026468;8036006;8052307;8101647;8394845;8493579;8530511;8617201;8617750;8622888;8645157;8657148;8665852;8665853;8710374;8939933;9135143;9168115;9232641;9275162;9461599;9556621;9604935;9736715;9895304;9927426", "class_list": "", "function": "Association of NRG3 and ERBB4 gene polymorphism with nicotine dependence in Turkish population., [RefSeq, PubMed]; Direct ligand for the ERBB4 tyrosine kinase receptor. Binding results in ligand-stimulated tyrosine phosphorylation and activation of the receptor. Does not bind to the EGF receptor, ERBB2 or ERBB3 receptors. May be a survival factor for oligodendrocytes., [UniProtKB, PubMed, PubMed]; NRG3 contributes to cognitive deficits in chronic patients with schizophrenia., [RefSeq, PubMed]; Neuregulin 3 rs10748842 polymorphism contributes to the effect of body mass index on cognitive impairment in patients with schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The BRE rs7572644 and NRG3 rs1649942 genetic variants were validated in an independent cohort of EOC Portuguese patients., [RefSeq, PubMed]; The NRG3 protein is a new post-translationally regulated isoform of neuregulin 3 expressed in the developing human central nervous system with a role in oligodendrocyte survival., [RefSeq, PubMed]; This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]., [RefSeq]; Transcytosis and trans-synaptic retention by postsynaptic ErbB4 underlie axonal accumulation of NRG3., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A4D7U1;Q0PEH2;Q5VYH3", "ec_number_list": [], "go_molecular_function": "GO:0030971 receptor tyrosine kinase binding;GO:0008083 growth factor activity;GO:0045499 chemorepellent activity;GO:0030297 transmembrane receptor protein tyrosine kinase activator activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0007416 synapse assembly;GO:0001558 regulation of cell growth;GO:0050804 modulation of chemical synaptic transmission;GO:0048513 animal organ development", "synthesized_glycan_count": 0, "hit_score": 21.9, "record_id": "P56975-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y697-1", "uniprot_id": [ { "id": "NFS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y697", "type": "external" } ], "mass": 50196.0, "length": 457, "protein_name": "Cysteine desulfurase", "gene_name": "NFS1", "organism": "Human", "refseq_name": "cysteine desulfurase isoform b precursor", "refseq_ac": [ { "id": "NP_001185918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185918", "type": "external" } ], "gene_names_uniprotkb": "NFS1; HUSSY-08; NIFS", "gene_names_refseq": "COXPD52; HUSSY-08; IscS; NFS1; NIFS", "protein_names_uniprotkb": "Cysteine desulfurase; 2.8.1.7", "protein_names_refseq": "NFS1 nitrogen fixation 1 homolog; cysteine desulfurase isoform b precursor; cysteine desulfurase, mitochondrial; nitrogen fixation 1 (S. cerevisiae, homolog); nitrogen-fixing bacteria S-like protein", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 52 (Disease Ontology:DOID:0070425)", "pathway": " (hsa:9054)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11060020;11124703;11237011;16527810;18650437;19454487;21298097;23593335;23940031;24498631;25576301;26702583;27846572;27862975;27920218;28510447;29097656;29242379;29557506;30315122;30410026;30817134;31101807;31664822;31844290;32157095;32161166;33457206;33912179;34357683;34824239;35221331;36010968;9885568", "class_list": "", "function": "Cysteine desulfurase, of the core iron-sulfur cluster (ISC) assembly complex, that catalyzes the desulfuration of L-cysteine to L-alanine, as component of the cysteine desulfurase complex, leading to the formation of a cysteine persulfide intermediate at the active site cysteine residue and participates in the [2Fe-2S] clusters assembly on the scaffolding protein ISCU (PubMed:18650437, PubMed:29097656, PubMed:31101807). The persulfide is then transferred on the flexible Cys loop from the catalytic site of NFS1 to the surface of NFS1 (PubMed:29097656). After the NFS1-linked persulfide sulfur is transferred to one of the conserved Cys residues of the scaffold, a reaction assisted by FXN (By similarity). The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]., [RefSeq]; May catalyze the desulfuration of L-cysteine to L-alanine as component of the cysteine desulfurase complex (NFS1:LYRM4), leading to the formation of a cysteine persulfide intermediate (PubMed:16527810, PubMed:18650437). Acts as a sulfur donor for MOCS3 by transferring the sulfur of the cysteine persulfide intermediate on MOCS3 (PubMed:18650437, PubMed:23593335)., [UniProtKB, PubMed, PubMed, PubMed]; Phosphorylated NFS1 weakens oxaliplatin-based chemosensitivity of colorectal cancer by preventing PANoptosis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B3KMA5;B4DXK9;E1P5R8;F5GYK5;Q6P0L8;Q9NTZ5;Q9Y481", "ec_number_list": [ { "id": "2.8.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.1.7", "type": "external" } ], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0051536 iron-sulfur cluster binding;GO:0031071 cysteine desulfurase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005813 centrosome", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0044571 [2Fe-2S] cluster assembly;GO:0006777 Mo-molybdopterin cofactor biosynthetic process;GO:0044572 [4Fe-4S] cluster assembly", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9Y697-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRX3-1", "uniprot_id": [ { "id": "CX4L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRX3", "type": "external" } ], "mass": 9966.0, "length": 87, "protein_name": "Cytochrome c oxidase hypoxia associated subunit FA4L2", "gene_name": "COXFA4L2", "organism": "Human", "refseq_name": "cytochrome c oxidase hypoxia associated subunit FA4L2", "refseq_ac": [ { "id": "NP_064527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064527", "type": "external" } ], "gene_names_uniprotkb": "COXFA4L2; NDUFA4L2", "gene_names_refseq": "COXFA4L2; MISTRH; NDUFA4L2; NUOMS", "protein_names_uniprotkb": "Cytochrome c oxidase hypoxia associated subunit FA4L2; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2; NADH-ubiquinone oxidoreductase MLRQ subunit homolog; NUOMS", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2; NADH:ubiquinone oxidoreductase MLRQ subunit homolog; NDUFA4 mitochondrial complex associated like 2; cytochrome c oxidase hypoxia associated subunit FA4L2; cytochrome c oxidase subunit FA4 like 2; mitochondrial stress response hypoxia", "tax_id": 9606, "disease": "", "pathway": " (hsa:56901)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10931946;11237011;22100406;26783287;26819450;27453328;27862975;29557506;29632711;30429286;31154438;31848261;35929074;36284347;36369883;36722045;39402288", "class_list": "", "function": "Mitochondrial protein that plays a regulatory role in cellular metabolism, particularly under hypoxic conditions (PubMed:22100406). Downregulates mitochondrial respiratory chain complex I activity under hypoxia, reduces oxygen consumption and ROS and helps cells adapt by switching to glycolysis (PubMed:22100406)., [UniProtKB, PubMed]; NDUFA4L2 expression levels were correlated with some clinical features of clear cell renal cell carcinoma (ccRCC). Multivariate analysis showed NDUFA4L2 expression was an independent prognostic factor for ccRCC patients., [RefSeq, PubMed]; NDUFA4L2 knockdown has a profound antiproliferative effect, alters metabolic pathways, and causes major stress in cultured clear cell renal cell carcinoma cells., [RefSeq, PubMed]; NDUFA4L2 reduces mitochondrial respiration resulting in defective lysosomal trafficking in clear cell renal cell carcinoma., [RefSeq, PubMed]; Pancancer analysis of NDUFA4L2 with focused role in tumor progression and metastasis of colon adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This study has provided the first clinical relevance of NDUFA4L2 in human cancer, and since NDUFA4L2 was HIF1-regulated in Hepatocellular carcinoma cells, suggested that Hepatocellular carcinoma patients with NDUFA4L2 overexpression may be suitable candidates for HIF inhibitor treatment., [RefSeq, PubMed]; Transcriptional regulation of NDUFA4L2 by NFIB induces sorafenib resistance by decreasing reactive oxygen species in hepatocellular carcinoma., [RefSeq, PubMed]; Unique expression of the atypical mitochondrial subunit NDUFA4L2 in cerebral pericytes fine tunes HIF activity in response to hypoxia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6IAH9", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0001666 response to hypoxia;GO:0071456 cellular response to hypoxia;GO:1902957 negative regulation of mitochondrial electron transport, NADH to ubiquinone;GO:1903427 negative regulation of reactive oxygen species biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9NRX3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UD1-1", "uniprot_id": [ { "id": "OAF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UD1", "type": "external" } ], "mass": 30688.0, "length": 273, "protein_name": "Out at first protein homolog", "gene_name": "OAF", "organism": "Human", "refseq_name": "out at first protein homolog precursor", "refseq_ac": [ { "id": "NP_848602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848602", "type": "external" } ], "gene_names_uniprotkb": "OAF; NS5ATP13TP2", "gene_names_refseq": "NS5ATP13TP2; OAF", "protein_names_uniprotkb": "Out at first protein homolog; HCV NS5A-transactivated protein 13 target protein 2", "protein_names_refseq": "HCV NS5A-transactivated protein 13 target protein 2; OAF homolog; out at first protein homolog precursor; out at first protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:220323)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10.1074/mcp.M114.046862;11237011;23481700;25813380;27846572;28904123;29557506;29632711;29789417;31848261;32350084;32357974;32387766;32488085;33141586;33298915;33592498;34357683;35051231;35251023;35964702", "class_list": "", "function": "ALB, HP, OAF and RBP4 as novel protein biomarkers for identifying cured patients with pulmonary tuberculosis by DIA., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q86UD1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15646-1", "uniprot_id": [ { "id": "OASL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15646", "type": "external" } ], "mass": 59226.0, "length": 514, "protein_name": "2'-5'-oligoadenylate synthase-like protein", "gene_name": "OASL", "organism": "Human", "refseq_name": "2'-5'-oligoadenylate synthase-like protein isoform c", "refseq_ac": [ { "id": "NP_001248754", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248754", "type": "external" } ], "gene_names_uniprotkb": "OASL; TRIP14", "gene_names_refseq": "OASL1; OASLd; OASL; TRIP-14; TRIP14; p59 OASL; p59-OASL; p59OASL", "protein_names_uniprotkb": "2'-5'-oligoadenylate synthase-like protein; 2'-5'-OAS-RP; 2'-5'-OAS-related protein; 59 kDa 2'-5'-oligoadenylate synthase-like protein; TR-interacting protein 14; TRIP-14; Thyroid receptor-interacting protein 14; p59 OASL; p59OASL", "protein_names_refseq": "2'-5'-OAS-RP; 2'-5'-OAS-related protein; 2'-5'-oligoadenylate synthase-like protein isoform c; 59 kDa 2'-5'-oligoadenylate synthase-like protein; 59 kDa 2'-5'-oligoadenylate synthetase-like protein; TR-interacting protein 14; thyroid receptor-interacting protein 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:8638); (R-HSA-877300); (R-HSA-8983711); (R-HSA-909733)", "pathway_count": 4, "publication_count": 188, "publication_id_list": "10067896;10395669;10464285;10542297;10982844;10986460;11092454;11237011;11265282;11337497;11377645;11404376;11585831;11972023;11980899;11986302;12029096;12040185;12438563;12446674;12766484;12842042;12915721;1396683;14586410;14722222;14728690;14769151;15047845;1508672;15143187;15231837;15312780;15322115;15388922;15449939;15530433;15778442;16009940;16171819;16237089;16467876;16987978;17125875;17251292;1730654;17351669;17408844;17969444;18035202;18362138;18575461;18591661;18931074;19203244;19904482;20049711;20074559;20130243;20304997;20363976;20643137;21142819;2211721;22531715;23061660;23084743;23121362;23319625;23481700;24417533;24500209;24578532;24714562;24931123;25275129;25352621;25371710;25505266;25540362;25775560;25892109;25892735;26055709;26154972;26375851;26728094;26760998;26858407;27543614;27600516;27846572;27920218;28063628;28832583;28834231;29242379;29331515;29393594;29493099;29508533;29557506;29632711;29769354;29786170;30429286;30484775;30485383;30833945;31154438;31844290;31848261;31855809;32032529;32113509;32161166;32502341;32511913;32574262;32661006;32758689;32862111;32938616;32983136;33117408;33189161;33193462;33239784;33298915;33396578;3350819;33717175;33968037;33981976;34087483;34171305;34357683;34932366;35051231;35318648;35580925;36215666;36241641;36284347;37217939;38353288;6162102;6190010;6548414;688397;7510216;7514165;7526154;7530745;7537377;7539425;7540766;7615558;7617032;7657660;7673114;7690989;7776974;7796299;8156998;8176225;8197134;8232552;8483949;8530158;8550631;8605876;8621447;8631301;8702790;9096384;9111318;9121453;9143706;9242679;9334213;9407111;9660177;9722630;9826176;9847332;9861020;9880569", "class_list": "", "function": "Does not have 2'-5'-OAS activity, but can bind double-stranded RNA. Displays antiviral activity against encephalomyocarditis virus (EMCV) and hepatitis C virus (HCV) via an alternative antiviral pathway independent of RNase L., [UniProtKB, PubMed, PubMed, PubMed]; OASL regulates pro-inflammatory mediators such as cytokines and chemokines which suppress intracellular mycobacterial growth and survival., [RefSeq, PubMed]; Peptidase inhibitor 16 promotes proliferation of pancreatic ductal adenocarcinoma cells through OASL signaling., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RAZ2;I1YDD2;O75686;Q17R95;Q9Y6K6;Q9Y6K7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003725 double-stranded RNA binding;GO:0046966 nuclear thyroid hormone receptor binding;GO:0016779 nucleotidyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0070106 interleukin-27-mediated signaling pathway;GO:0051607 defense response to virus;GO:0045071 negative regulation of viral genome replication;GO:0060337 type I interferon-mediated signaling pathway;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "Q15646-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULD2-1", "uniprot_id": [ { "id": "MTUS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULD2", "type": "external" } ], "mass": 141397.0, "length": 1270, "protein_name": "Microtubule-associated tumor suppressor 1", "gene_name": "MTUS1", "organism": "Human", "refseq_name": "microtubule-associated tumor suppressor 1 isoform 1", "refseq_ac": [ { "id": "NP_001001924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001924", "type": "external" } ], "gene_names_uniprotkb": "MTUS1; ATBP; ATIP; GK1; KIAA1288; MTSG1", "gene_names_refseq": "ATBP; ATIP3; ATIP; ICIS; MP44; MTSG1; MTUS1", "protein_names_uniprotkb": "Microtubule-associated tumor suppressor 1; AT2 receptor-binding protein; Angiotensin-II type 2 receptor-interacting protein; Mitochondrial tumor suppressor 1", "protein_names_refseq": "AT2 receptor-binding protein; AT2 receptor-interacting protein; AT2R binding protein; angiotensin-II type 2 receptor-interacting protein; erythroid differentiation-related; microtubule associated tumor suppressor 1; microtubule-associated tumor suppressor 1 isoform 1; mitochondrial tumor suppressor gene 1; transcription factor MTSG1", "tax_id": 9606, "disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); colon cancer (Disease Ontology:DOID:219); breast carcinoma (Disease Ontology:DOID:3459); ovarian carcinoma (Disease Ontology:DOID:4001); salivary gland adenoid cystic carcinoma (Disease Ontology:DOID:4866); gallbladder carcinoma (Disease Ontology:DOID:4948); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:57509)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "10.1101/2023.09.13.557529;10697957;11237011;12692079;15123706;16270321;16565220;16650523;16887298;16969489;17081983;17656251;18669648;18767875;19413330;19690332;19794912;20068231;23186163;23481700;24275569;25505266;25576301;27397612;27600516;29242379;29393594;29557506;30429286;30524438;30833945;31154438;31848261;32157095;32938616;33981976;34125870;34171305;34185709;35051231;35580925;35962436;37099789;38282475;38658371", "class_list": "", "function": "ATIP/ATIP1 regulates prostate cancer metastasis through mitochondrial dynamic-dependent signaling., [RefSeq, PubMed]; Cooperates with AGTR2 to inhibit ERK2 activation and cell proliferation. May be required for AGTR2 cell surface expression. Together with PTPN6, induces UBE2V2 expression upon angiotensin-II stimulation. Isoform 1 inhibits breast cancer cell proliferation, delays the progression of mitosis by prolonging metaphase and reduces tumor growth., [UniProtKB, PubMed, PubMed]; Identified a tumor suppressor gene named MTSG1 at chromosome 8p21.3-22, encoding a mitochondrial protein, controlling cellular proliferation, [RefSeq, PubMed]; In silico analysis of deleterious SNPs of human MTUS1 gene and their impacts on subsequent protein structure and function. Publication Status: Online-Only, [RefSeq, PubMed]; Long Noncoding RNA MIR600HG Binds to MicroRNA-125a-5p to Prevent Pancreatic Cancer Progression Via Mitochondrial Tumor Suppressor 1-Dependent Suppression of Extracellular Regulated Protein Kinases Signaling Pathway., [RefSeq, PubMed]; MTUS1 encodes a family of proteins(ATIP1, ATIP3 and ATIP4), with potential important biological roles in tumor suppression and/or brain function., [RefSeq, PubMed]; MTUS1 is a promising diagnostic and prognostic biomarker for colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Nucleotide variations result in amino-acid substitution or deletion of conserved structural motifs and also exonic splicing enhancer motifs and physiological splice sites, suggesting deleterious effects on ATIP function and/or expression. [REVIEW] Review article, [RefSeq, PubMed]; Results identify ATIP1 (angiotensin II AT2 receptor-interacting protein) as a novel early component of growth inhibitory signaling cascade, [RefSeq, PubMed]; This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008]., [RefSeq]; [Microtubule-associated tumor suppressor 1 inhibits hemin-induced apoptosis of vascular endothelial cells via hemeoxygenase 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": 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": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K135;B2RBJ6;B3KWJ9;B4DH03;B9EGA1;D3DSP8;Q63HJ6;Q659F4;Q6PK49;Q6URW7;Q8N4M6;Q8WTT9;Q9H7T2", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0010758 regulation of macrophage chemotaxis", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9ULD2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7T3-1", "uniprot_id": [ { "id": "O56A5_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7T3", "type": "external" } ], "mass": 35317.0, "length": 313, "protein_name": "Olfactory receptor 56A5", "gene_name": "OR56A5", "organism": "Human", "refseq_name": "olfactory receptor 56A5", "refseq_ac": [ { "id": "NP_001139505", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139505", "type": "external" } ], "gene_names_uniprotkb": "OR56A5; OR56A5P", "gene_names_refseq": "OR56A5P; OR56A5", "protein_names_uniprotkb": "Olfactory receptor 56A5", "protein_names_refseq": "olfactory receptor 56A5; olfactory receptor, family 56, subfamily A, member 5 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:390084); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "23481700;24800820;27515280;31844290;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0C7T3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51178-1", "uniprot_id": [ { "id": "PLCD1_HUMAN", "url": "https://www.uniprot.org/uniprot/P51178", "type": "external" } ], "mass": 85665.0, "length": 756, "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1", "gene_name": "PLCD1", "organism": "Human", "refseq_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 1", "refseq_ac": [ { "id": "NP_001124436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124436", "type": "external" } ], "gene_names_uniprotkb": "PLCD1", "gene_names_refseq": "NDNC3; PLC-III; PLCD1", "protein_names_uniprotkb": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1; 3.1.4.11; PLC-III; PLC-delta-1; Phosphoinositide phospholipase C-delta-1; Phospholipase C-III; Phospholipase C-delta-1", "protein_names_refseq": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 1; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1; PLC-delta-1; Phospholipase C I 1; epididymis secretory sperm binding protein; phosphoinositide phospholipase C-delta-1; phospholipase C-III", "tax_id": 9606, "disease": "nonsyndromic congenital nail disorder 3 (Disease Ontology:DOID:0080081); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:5333); (R-HSA-1855204)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10593988;10866302;11022047;11022048;11042108;11118617;11909533;12223481;12747803;1333955;15037625;15140260;15316017;15331768;15474001;15579586;15702972;15790568;16107206;1644792;1718960;19179337;20058876;21665001;23186163;24275569;2550068;2841328;29242379;30379171;30429286;31154438;31217245;31844290;31848261;32157095;32488085;33968037;35051231;35580925;36241641;36284347;36987828;37228901;37460940;40307207;7721860;7761412;7890667;8407970;8454637;8530101;8662638;8723348;8769125;9188725;9360711;9430698;9593664", "class_list": "", "function": "Identification of a Novel PLCD1 Variant in a Danish Family with Hereditary Leukonychia. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA MIR503HG Targets miR-191-5p/PLCD1 Axis and Negatively Modulates Apoptosis, Extracellular Matrix Disruption, and Inflammation in Abdominal Aortic Aneurysm. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-191 regulates oral squamous cell carcinoma cells growth by targeting PLCD1 via the Wnt/beta-catenin signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes (PubMed:15331768, PubMed:9188725). Essential for trophoblast and placental development (By similarity). Binds phosphatidylinositol 4,5-bisphosphate (PubMed:15331768, PubMed:7890667, PubMed:9188725)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; These data show that mutations in PLCD1 underlie hereditary leukonychia, revealing a gene involved in molecular control of nail growth., [RefSeq, PubMed]; This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B3KR14;Q86VN8", "ec_number_list": [ { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" } ], "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005509 calcium ion binding;GO:0001786 phosphatidylserine binding;GO:0032794 GTPase activating protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0006644 phospholipid metabolic process;GO:0046488 phosphatidylinositol metabolic process;GO:0141212 phospholipase C/protein kinase C signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P51178-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08651-1", "uniprot_id": [ { "id": "NFIC_HUMAN", "url": "https://www.uniprot.org/uniprot/P08651", "type": "external" } ], "mass": 55675.0, "length": 508, "protein_name": "Nuclear factor 1 C-type", "gene_name": "NFIC", "organism": "Human", "refseq_name": "nuclear factor 1 C-type isoform 1", "refseq_ac": [ { "id": "NP_001231931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231931", "type": "external" } ], "gene_names_uniprotkb": "NFIC; NFI", "gene_names_refseq": "CTF5; CTF; NF-I/C; NF-I; NF1-C; NFIC; NFI", "protein_names_uniprotkb": "Nuclear factor 1 C-type; CCAAT-box-binding transcription factor; CTF; NF-I/C; NF1-C; NFI-C; Nuclear factor 1/C; Nuclear factor I/C; TGGCA-binding protein", "protein_names_refseq": "CCAAT-box-binding transcription factor; TGGCA-binding protein; nuclear factor 1 C-type isoform 1; nuclear factor 1 C-type; nuclear factor I/C (CCAAT-binding transcription factor)", "tax_id": 9606, "disease": "", "pathway": " (hsa:4782); (R-HSA-73980); (R-HSA-749476)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "11118217;11237011;17081983;18220336;18669648;18691976;19690332;20068231;23186163;24129315;24275569;25576301;25892735;26992070;27846572;27862975;28228285;28446606;28832583;28904123;29242379;29485866;29557506;29769354;29786170;30059200;30410026;31154438;31375868;31492838;31844290;31848261;32157095;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33592498;33717175;33912179;33936100;33968037;3398920;34019948;34087483;34171305;34405274;34509645;34846842;35051231;35198878;35254053;35289036;35580925;36010968;36241641;36581221;37353485;37710299;38267731;38528526;38665916;39302247;39531497;40596516;8035818;8308883;8710515;9660958", "class_list": "", "function": "Activation of CHPF by transcription factor NFIC promotes NLRP3 activation during the progression of colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Adipose-derived stem cell exosome NFIC improves diabetic foot ulcers by regulating miR-204-3p/HIPK2. Publication Status: Online-Only, [RefSeq, PubMed]; NFIC regulates ribosomal biology and ER stress in pancreatic acinar cells and restrains PDAC initiation. Publication Status: Online-Only, [RefSeq, PubMed]; Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Rs822336 binding to C/EBPbeta and NFIC modulates induction of PD-L1 expression and predicts anti-PD-1/PD-L1 therapy in advanced NSCLC. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the CTF/NF-I family. These are dimeric DNA-binding proteins, and function as cellular transcription factors and as replication factors for adenovirus DNA replication. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A8K1H0;B7Z4U5;B7Z9C3;K7EMU1;P08652;Q14932;Q9UPJ3;Q9UPJ9;Q9UPK0;Q9UPK1", "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:0001650 fibrillar center;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006260 DNA replication;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P08651-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZJ7-1", "uniprot_id": [ { "id": "MTCH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZJ7", "type": "external" } ], "mass": 41544.0, "length": 389, "protein_name": "Mitochondrial carrier homolog 1", "gene_name": "MTCH1", "organism": "Human", "refseq_name": "mitochondrial carrier homolog 1 isoform PSAP-LL", "refseq_ac": [ { "id": "NP_001258570", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258570", "type": "external" } ], "gene_names_uniprotkb": "MTCH1; CGI-64; PRO4314; PSAP", "gene_names_refseq": "CGI-64; MTCH1; PIG60; PSAP; SLC25A49", "protein_names_uniprotkb": "Mitochondrial carrier homolog 1; Presenilin-associated protein", "protein_names_refseq": "cell proliferation-inducing protein 60; mitochondrial carrier homolog 1 isoform PSAP-LL; mitochondrial carrier homolog 1; presenilin-associated protein; solute carrier family 25, member 49", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:23787)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "10551805;11237011;12377771;12975309;17670888;18291114;23481700;24129315;24715725;25576301;25880248;25892735;26154972;26375851;26992070;27846572;28904123;29557506;30484775;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;34185709;34211107;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36264797;36284347;36581221;37550282;37938771;38820930;40596516", "class_list": "", "function": "Data show that all PSAP splicing isoforms are localized in the mitochondria and are pro-apoptotic., [RefSeq, PubMed]; Identification of MTCH1 as a novel prognostic indicator and therapeutic target in hepatocellular carcinoma., [RefSeq, PubMed]; Mitochondrial carrier 1 (MTCH1) governs ferroptosis by triggering the FoxO1-GPX4 axis-mediated retrograde signaling in cervical cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial localization and proapoptotic activity of PSAP suggest that it is an important regulator of apoptosis, [RefSeq, PubMed]; PSAP has two proapoptotic isoforms generated by alternative splicing, and both proteins are imported into the mitochondrial outer membrane using multiple internal targeting signals, and both contain two proapoptotic domains., [RefSeq, PubMed]; Protein insertase that mediates insertion of transmembrane proteins into the mitochondrial outer membrane (PubMed:36264797). Catalyzes insertion of proteins with alpha-helical transmembrane regions, such as signal-anchored, tail-anchored and multi-pass membrane proteins (By similarity). Does not mediate insertion of beta-barrel transmembrane proteins (By similarity). May play a role in apoptosis (PubMed:12377771)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8KAX5;B2RCE3;Q6PK60;Q6UX45;Q7L465;Q9BW23;Q9NZR6;Q9UJZ5", "ec_number_list": [], "go_molecular_function": "GO:0032977 membrane insertase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane", "go_biological_process": "GO:0045040 protein insertion into mitochondrial outer membrane;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0009966 regulation of signal transduction;GO:0045161 neuronal ion channel clustering", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9NZJ7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYA4-1", "uniprot_id": [ { "id": "MTMR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYA4", "type": "external" } ], "mass": 133353.0, "length": 1195, "protein_name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4", "gene_name": "MTMR4", "organism": "Human", "refseq_name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 1", "refseq_ac": [ { "id": "NP_004678", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004678", "type": "external" } ], "gene_names_uniprotkb": "MTMR4; KIAA0647; ZFYVE11", "gene_names_refseq": "FYVE-DSP2; MTMR4; ZFYVE11", "protein_names_uniprotkb": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4; 3.1.3.95; FYVE domain-containing dual specificity protein phosphatase 2; FYVE-DSP2; Myotubularin-related protein 4; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Zinc finger FYVE domain-containing protein 11", "protein_names_refseq": "FYVE domain-containing dual specificity protein phosphatase 2; phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 1; phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; zinc finger FYVE domain-containing protein 11; zinc finger, FYVE domain containing 11", "tax_id": 9606, "disease": "centronuclear myopathy X-linked (Disease Ontology:DOID:0111225); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); muscular atrophy (Disease Ontology:DOID:767)", "pathway": " (hsa:9110); (R-HSA-1660516); (R-HSA-1660517); (R-HSA-2173788)", "pathway_count": 4, "publication_count": 140, "publication_id_list": "10419465;10519551;10757800;10766823;10805725;11158580;11163210;11237011;11278251;11302699;11706043;11733541;11923287;12151385;12270933;12519765;12847286;12890864;14660569;14701756;14718519;14722070;15496141;15716355;15781469;16027725;16061177;1655747;16787938;17556371;17651088;18524850;18950639;19125695;19758997;20061380;20129061;20736309;20937913;21081650;22045334;22344298;23150675;23186163;23481700;23818870;24275569;24714562;24715725;25418920;25502872;25576301;25645385;25659891;25869668;25880248;25892735;26375851;26496610;26728094;26992070;27452731;27625994;27862975;27893789;27920218;28063628;28228285;28467828;28832583;28834231;28855257;28904123;29242379;29314611;29351928;29393594;29508533;29557506;29632046;29769354;29962048;30315122;30410026;30429286;30524438;30573663;30779550;30833945;30944173;31092671;31154438;31530632;31543504;31844290;31848261;32157095;32161166;32173736;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34433824;34509645;34561969;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36284347;37938771;7608176;7628435;8999962;9215638;9295334;9335507;9736772;9856985", "class_list": "", "function": "Here the authors demonstrate that green fluorescent protein-tagged MTMR4 is recruited to the Salmonella-containing vacuole and infection of cells depleted of endogenous MTMR4 results in a decrease in viable intracellular Salmonella. Publication Status: Online-Only, [RefSeq, PubMed]; Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate (PubMed:11302699, PubMed:16787938, PubMed:20736309, PubMed:27625994, PubMed:29962048, PubMed:30944173). Decreases the levels of phosphatidylinositol 3-phosphate, a phospholipid found in cell membranes where it acts as key regulator of both cell signaling and intracellular membrane traffic, in a subset of endosomal membranes to negatively regulate both endocytic recycling and trafficking and/or maturation of endosomes toward lysosomes (PubMed:16787938, PubMed:20736309, PubMed:29962048). Through phosphatidylinositol 3-phosphate turnover in phagosome membranes regulates phagocytosis and phagosome maturation (PubMed:31543504). By decreasing phosphatidylinositol 3-monophosphate (PI3P) levels in immune cells it can also regulate the innate immune response (PubMed:30944173). Beside its lipid phosphatase activity, can also function as a molecular adapter to regulate midbody abscission during mitotic cytokinesis (PubMed:25659891). Can also negatively regulate TGF-beta and BMP signaling through Smad proteins dephosphorylation and retention in endosomes (PubMed:20061380, PubMed:23150675)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes., [RefSeq, PubMed]; MTMR4 belongs to the myotubularin family of phosphoinositides phosphatases, [RefSeq, PubMed]; Myotubularin-related protein 3 and myotubularin-related protein 4 may act as a bridge between CEP55 and polo-like kinase 1, ensuring proper CEP55 phosphorylation and regulating CEP55 recruitment to the midbody., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 32, "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": "D3DTZ6;Q8IV27;Q9Y4D5", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.64", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" } ], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0008270 zinc ion binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0019903 protein phosphatase binding;GO:0070412 R-SMAD binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0090382 phagosome maturation;GO:0030514 negative regulation of BMP signaling pathway;GO:0006661 phosphatidylinositol biosynthetic process;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0046856 phosphatidylinositol dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q9NYA4-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51956-1", "uniprot_id": [ { "id": "NEK3_HUMAN", "url": "https://www.uniprot.org/uniprot/P51956", "type": "external" } ], "mass": 57705.0, "length": 506, "protein_name": "Serine/threonine-protein kinase Nek3", "gene_name": "NEK3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Nek3 isoform b", "refseq_ac": [ { "id": "NP_001139571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139571", "type": "external" } ], "gene_names_uniprotkb": "NEK3", "gene_names_refseq": "HSPK36; NEK3", "protein_names_uniprotkb": "Serine/threonine-protein kinase Nek3; 2.7.11.1; HSPK 36; Never in mitosis A-related kinase 3; NimA-related protein kinase 3", "protein_names_refseq": "HSPK 36; NIMA (never in mitosis gene a)-related kinase 3; glycogen synthase A kinase; hydroxyalkyl-protein kinase; never in mitosis A-related kinase 3; nimA-related protein kinase 3; phosphorylase B kinase kinase; serine/threonine-protein kinase NEK3; serine/threonine-protein kinase Nek3 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:4752)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;12063396;15345747;15618286;17297458;17344846;17924679;19369195;20068231;21756249;27489110;27600516;28832583;29242379;29454964;29504992;30315122;30410026;31741759;31906878;32157095;32357974;32938616;33298915;34185709;35154160;35580925;36010968;38253038;7522034;8274451", "class_list": "", "function": "EHD2 interacts with Nek3 [NIMA (never in mitosis in Aspergillus nidulans)-related kinase 3], a serine/threonine kinase., [RefSeq, PubMed]; Molecular cloning and characterization of the human NIMA-related protein kinase 3 gene (NEK3)., [RefSeq, PubMed]; NEK3 kinase phosphorylates SNAP29 on its serine 105. NEK3-mediated phosphorylation determines membrane localization of SNAP29. Membrane-associated SNAP29 regulates Golgi and focal adhesion structures., [RefSeq, PubMed]; Protein kinase which influences neuronal morphogenesis and polarity through effects on microtubules. Regulates microtubule acetylation in neurons. Contributes to prolactin-mediated phosphorylation of PXN and VAV2. Implicated in prolactin-mediated cytoskeletal reorganization and motility of breast cancer cells through mechanisms involving RAC1 activation and phosphorylation of PXN and VAV2., [UniProtKB, PubMed, PubMed]; The NEK protein kinases emerge as important proteins in thyroid cancer development and may help to identify malignancy and aggressiveness features during diagnosis. Publication Status: Online-Only, [RefSeq, PubMed]; The data demonstrate that NEK3 is overexpressed in gastric cancer, which promotes the malignancy of gastric cancer, [RefSeq, PubMed]; These data support a modulatory role for phosphorylation at NEK3 Thr-165 in focal adhesion maturation and/or turnover to promote breast cancer cell migration., [RefSeq, PubMed]; This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Two functional alleles for this gene have been identified in humans. The reference genome assembly (GRCh38) represents a functional allele that is associated with the inclusion of an additional coding exon in protein-coding transcripts, compared to an alternate functional allele that lacks the exon. [provided by RefSeq, Sep 2019]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 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": "A8K2J4;Q5TAP2;Q8J023;Q8WUN5", "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:0046872 metal ion binding;GO:0106310 protein serine kinase activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0030424 axon", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006468 protein phosphorylation;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "P51956-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12694-1", "uniprot_id": [ { "id": "ODBA_HUMAN", "url": "https://www.uniprot.org/uniprot/P12694", "type": "external" } ], "mass": 50471.0, "length": 445, "protein_name": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial", "gene_name": "BCKDHA", "organism": "Human", "refseq_name": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_000700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000700", "type": "external" } ], "gene_names_uniprotkb": "BCKDHA", "gene_names_refseq": "BCKDE1A; BCKDHA; MSUD1A; MSUD1; MSU; OVD1A", "protein_names_uniprotkb": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; 1.2.4.4; BCKDE1A; BCKDH E1-alpha; Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain", "protein_names_refseq": "2-oxoisovalerate dehydrogenase (lipoamide); 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1 precursor; 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; BCKDH E1-alpha; branched chain keto acid dehydrogenase E1 alpha protein; branched chain keto acid dehydrogenase E1, alpha polypeptide; branched-chain alpha-keto acid dehydrogenase E1 component alpha chain", "tax_id": 9606, "disease": "maple syrup urine disease type IA (Disease Ontology:DOID:0061203); maple syrup urine disease (Disease Ontology:DOID:9269)", "pathway": " (hsa:593); (R-HSA-70895); (R-HSA-9859138); (R-HSA-9865113); (R-HSA-9865125); (R-HSA-9907570); (R-HSA-9912481); (R-HSA-9912529)", "pathway_count": 8, "publication_count": 120, "publication_id_list": "10448086;10745006;10832746;10947204;11013134;11181649;11237011;11264579;11406611;11687750;11738050;11839747;12269802;12359132;12434311;12696021;12812918;13416257;1420356;14752098;15166214;1527093;15342248;15576032;15946682;16023992;16141215;16442803;16770810;17081983;17287340;17371050;18088087;18452278;1847055;18669648;1867199;18707149;1885764;19411760;19651622;19664994;20068231;20166139;20230923;2060625;21844576;22291014;2241958;22589535;22956686;23086801;23481700;23485643;24449431;25576301;25880248;26251176;26992070;2703538;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28904123;2914958;29242379;29437277;29632711;29673582;30315122;30410026;3082934;31154438;31222486;31435015;31530632;31844290;32157095;3224821;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33592498;33912179;34171305;34185709;34357683;34511290;34883003;35051231;35580925;3597357;36010968;36284347;36729635;37938771;3947057;40914422;6928646;7356336;7883996;7918575;8037208;8161368;8824301;8968745;9165094;9214289;9540846;9582350;9621512;9889013", "class_list": "", "function": "Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults., [RefSeq, PubMed]; Pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease, [RefSeq, PubMed]; The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]., [RefSeq]; Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease. Publication Status: Online-Only, [RefSeq, PubMed]; Together with BCKDHB forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the branched-chain amino-acids valine, leucine and isoleucine producing CO2 and acyl-CoA which is subsequently utilized to produce energy. The E1 subunit catalyzes the first step with the decarboxylation of the alpha-ketoacid forming an enzyme-product intermediate. A reductive acylation mediated by the lipoylamide cofactor of E2 extracts the acyl group from the E1 active site for the next step of the reaction., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 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": "B4DP47;E7EW46;Q16034;Q16472", "ec_number_list": [ { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "1.2.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.4", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0003863 branched-chain 2-oxo acid dehydrogenase activity;GO:0016831 carboxy-lyase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0160157 branched-chain alpha-ketoacid dehydrogenase complex", "go_biological_process": "GO:0009083 branched-chain amino acid catabolic process;GO:0120552 branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P12694-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5S8-1", "uniprot_id": [ { "id": "NOX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5S8", "type": "external" } ], "mass": 64871.0, "length": 564, "protein_name": "NADPH oxidase 1", "gene_name": "NOX1", "organism": "Human", "refseq_name": "NADPH oxidase 1 isoform 1", "refseq_ac": [ { "id": "NP_008983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008983", "type": "external" } ], "gene_names_uniprotkb": "NOX1; MOX1; NOH1", "gene_names_refseq": "GP91-2; MOX1; NOH-1L; NOH-1; NOH1; NOX1", "protein_names_uniprotkb": "NADPH oxidase 1; 1.6.3.-; MOX-1; Mitogenic oxidase 1; NADH/NADPH mitogenic oxidase subunit P65-MOX; NOH-1; NOX-1", "protein_names_refseq": "NADH/NADPH mitogenic oxidase subunit P65-MOX; NADPH oxidase 1 isoform 1; NADPH oxidase homolog-1; mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating); mitogenic oxidase 1", "tax_id": 9606, "disease": "traumatic brain injury (Disease Ontology:DOID:0081292); Parkinson's disease (Disease Ontology:DOID:14330); transient cerebral ischemia (Disease Ontology:DOID:224); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary hypertension (Disease Ontology:DOID:6432); vascular dementia (Disease Ontology:DOID:8725); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:27035); (R-HSA-5668599); (R-HSA-9013149); (R-HSA-9013423); (R-HSA-9673324)", "pathway_count": 5, "publication_count": 294, "publication_id_list": "10072071;10232922;10400704;10455184;10464238;10485709;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10615049;10618392;10698942;10699171;10699464;10871633;10873802;10958683;11007481;11058585;11085924;11090627;11101902;11145705;11149925;11237011;11358862;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11751577;11756552;11773441;11779461;11803464;11804587;11804589;11804590;11884391;11912491;11956649;11961559;12015986;12056906;12071859;12093360;12096337;12097334;12195014;12221096;12351724;12432077;12531887;12533515;12546821;12547822;12650940;12665586;12716910;12857875;12877655;12923183;14512443;14514689;14530365;14617635;14636582;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15143170;15147912;15302923;15339924;15342493;15485661;15507211;15579468;15591124;15601624;15608632;15611138;15728722;15824103;15850391;15858067;15897194;15936275;16002401;16112081;16116428;16184169;16243036;16329988;16473593;16492808;16507994;16519628;1660188;16636067;16702231;16762923;16777452;16777849;16778989;16862148;16896804;16914516;16968698;17077126;17130287;17145773;17196961;17214551;17244649;17583407;17599059;17627283;17702745;17765681;17804252;17976533;18006505;18045877;18218625;18249095;18347018;18396277;18426980;18653540;18697831;18719708;18793328;18838382;19269969;19365405;19372727;19494238;19534724;19605563;19673492;19713215;19755710;19934221;20006983;20400958;20457807;20460433;20679435;20810653;20813901;20956805;21148482;21239714;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22808130;22970203;23109420;23209303;23255595;23288169;23289851;23396967;23434736;23572525;23707487;23718289;23821037;23875749;23940355;23980663;24086303;24259668;24335996;24352656;24365146;24859002;24865425;24933155;24960694;25024229;25211221;25428919;25704760;25721503;25795300;25862245;25877926;26129894;26301257;26529257;26628301;26887924;27117132;27145964;27216196;27481945;27555588;27558335;27566826;27713499;27806292;28114311;28196833;28356423;29089502;29242379;29358323;29382922;29393594;29789417;30315122;30853411;31844290;31848261;31871319;32203420;32983136;35580925;36764624;37217939;37224811;38582012;38876456;39219290;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8089108;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8947551;8990121;8994827;9013646;9099726;9113980;9252344;9305890;9438849;9490638;9497316;9520479;9582072;9659915;9670022;9674432;9716412;9792683;9804763;9822598;9843499;9988689", "class_list": "", "function": "Gut microbiota regulates the ALK5/NOX1 axis by altering glutamine metabolism to inhibit ferroptosis of intrahepatic cholangiocarcinoma cells., [RefSeq, PubMed]; Molecular interplay between NOX1 and autophagy in cadmium-induced prostate carcinogenesis., [RefSeq, PubMed]; NADPH oxidase that catalyzes the generation of superoxide from molecular oxygen utilizing NADPH as an electron donor., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; NOX1 triggers ferroptosis and ferritinophagy, contributes to Parkinson's disease., [RefSeq, PubMed]; PROX1 induction by autolysosomal activity stabilizes persister-like state of colon cancer via feedback repression of the NOX1-mTORC1 pathway., [RefSeq, PubMed]; Role of NOX1 and NOX5 in protein kinase C/reactive oxygen species-mediated MMP-9 activation and invasion in MCF-7 breast cancer cells., [RefSeq, PubMed]; This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K836;O95691;Q2PP02", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "1.6.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0031267 small GTPase binding;GO:0016174 NAD(P)H oxidase H2O2-forming activity;GO:0050661 NADP binding;GO:0016175 superoxide-generating NAD(P)H oxidase activity", "go_cellular_component": "GO:0043020 NADPH oxidase complex;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0042995 cell projection;GO:0016020 membrane", "go_biological_process": "GO:0006739 NADP+ metabolic process;GO:0001525 angiogenesis;GO:0006952 defense response;GO:0006954 inflammatory response;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 29.9, "record_id": "Q9Y5S8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55769-1", "uniprot_id": [ { "id": "NH2L1_HUMAN", "url": "https://www.uniprot.org/uniprot/P55769", "type": "external" } ], "mass": 14174.0, "length": 128, "protein_name": "NHP2-like protein 1", "gene_name": "SNU13", "organism": "Human", "refseq_name": "NHP2-like protein 1", "refseq_ac": [ { "id": "NP_001003796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003796", "type": "external" } ], "gene_names_uniprotkb": "SNU13; NHP2L1", "gene_names_refseq": "15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27; SNRNP15-5; SNU13; SPAG12; SSFA1", "protein_names_uniprotkb": "NHP2-like protein 1; High mobility group-like nuclear protein 2 homolog 1; OTK27; SNU13 homolog; U4/U6.U5 small nuclear ribonucleoprotein SNU13; U4/U6.U5 tri-snRNP 15.5 kDa protein; hSNU13", "protein_names_refseq": "NHP2 non-histone chromosome protein 2-like 1; NHP2-like protein 1; SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5); U4/U6.U5 tri-snRNP 15.5 kDa protein; [U4/U6.U5] tri-snRNP 15.5 kD RNA binding protein; high mobility group-like nuclear protein 2 homolog 1; non-histone chromosome protein 2-like 1; sperm specific antigen 1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:4809); (R-HSA-6790901); (R-HSA-6791226); (R-HSA-72163)", "pathway_count": 4, "publication_count": 224, "publication_id_list": "10545122;10593953;10606270;10882114;11014198;11081632;11101529;11163207;11233976;11237011;11922599;11935223;11978965;11991638;12068309;12150911;12176931;12411573;12414731;12417735;12429849;12477934;14625303;14713954;15199136;16037817;16043514;16314458;16381836;16723661;16738141;16782898;16809785;17095540;17189298;17332742;17353269;17412707;17412961;17606899;17636026;18044964;18065403;18322460;18438418;18477386;18593880;18991276;19033376;19103666;19106111;19165350;19332556;19463982;19536130;19564402;19615748;19801658;20038530;20047967;20056613;20068231;20093428;20423332;20531386;20798176;20805244;20819938;20934997;20980672;21036871;21063389;21097556;21536652;2176635;21784869;22072790;22110043;22121020;22190735;22195017;22365833;22424782;22916032;22959432;22961380;23186163;23222130;23236153;23345524;23391857;23439679;23481700;23482395;2388630;24086612;24196718;24304693;24366607;24424021;24448447;24550520;24714562;24737827;24914973;25411247;25525153;25555158;25576301;2558966;25645385;25653167;25851604;25880248;25969445;26085946;26154972;26196125;26237581;26375851;26385511;26420826;26728094;26912367;26969736;26992070;27084949;27377154;27459055;27600516;27683217;27846572;27862975;28062851;28076346;28228285;28502770;28514659;28781166;28832583;28834231;28904123;29242379;29301961;29331515;29360106;29361316;29393594;29493099;29557506;29632711;2963332;29786170;29789417;30192525;30315122;30315277;30410026;30705154;30728453;30765414;30833945;30975767;31217245;31222486;31409651;31530632;31844290;31848261;31998317;32157095;32161166;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33141586;33214551;33243851;33298915;33446560;33592498;33717175;33912179;33936100;33968037;34019948;34087483;34301950;34509645;34516797;34822310;34932366;35051231;35385551;35580925;36010968;36215666;36241641;36284347;3757028;37938771;38665916;39570315;8566756;8608946;8978773;9016565;9211966;9242493;9482744;9512519;9512526;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Common component of the spliceosome and rRNA processing machinery., [UniProtKB, UniProtKB, UniProtKB]; Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Involved in pre-mRNA splicing as component of the spliceosome. Binds to the 5'-stem-loop of U4 snRNA and thereby contributes to spliceosome assembly. The protein undergoes a conformational change upon RNA-binding. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) complexes that function in methylation of multiple sites on ribosomal RNAs (rRNAs) and messenger RNAs (mRNAs)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0030621 U4 snRNA binding;GO:0003723 RNA binding;GO:0051117 ATPase binding;GO:0030622 U4atac snRNA binding;GO:0034511 U3 snoRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032991 protein-containing complex;GO:0071011 precatalytic spliceosome", "go_biological_process": "GO:0016556 mRNA modification;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0030182 neuron differentiation;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 22.7, "record_id": "P55769-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPE3-1", "uniprot_id": [ { "id": "NOP10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPE3", "type": "external" } ], "mass": 7706.0, "length": 64, "protein_name": "H/ACA ribonucleoprotein complex subunit 3", "gene_name": "NOP10", "organism": "Human", "refseq_name": "H/ACA ribonucleoprotein complex subunit 3", "refseq_ac": [ { "id": "NP_061118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061118", "type": "external" } ], "gene_names_uniprotkb": "NOP10; NOLA3", "gene_names_refseq": "CHINE2; DKCB1; NOLA3; NOP10P; NOP10; PFBMFT9", "protein_names_uniprotkb": "H/ACA ribonucleoprotein complex subunit 3; Nucleolar protein 10; Nucleolar protein family A member 3; snoRNP protein NOP10", "protein_names_refseq": "H/ACA ribonucleoprotein complex subunit 3; NOP10 ribonucleoprotein homolog; homolog of yeast Nop10p; nucleolar protein 10; nucleolar protein family A member 3; nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs); snoRNP protein NOP10", "tax_id": 9606, "disease": "autosomal recessive dyskeratosis congenita 1 (Disease Ontology:DOID:0070015); dyskeratosis congenita (Disease Ontology:DOID:2729); pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 (MONDO:MONDO:0957294); cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 (MONDO:MONDO:0958193)", "pathway": " (hsa:55505); (R-HSA-171319); (R-HSA-174430); (R-HSA-6790901)", "pathway_count": 4, "publication_count": 143, "publication_id_list": "10606270;11074001;11081632;11237011;11935223;11978965;12417735;12699629;15044956;15060173;15104674;15189140;15199136;16314528;16339074;16381836;16522649;16601202;16782898;17081983;17172855;17308301;17395830;17507419;17636026;18358808;18523010;19033376;19179534;19383767;19463982;19734544;19854130;20047967;20068231;20112406;20351177;20404094;20524933;20639858;20934997;22579284;22871736;23103865;23391857;23481700;23657261;24086612;24714562;25128433;25271372;25411247;25418920;25469497;25525153;25576301;25620558;25645385;25653167;25802875;25851604;26085946;26196125;26375851;26728094;26758079;26992070;27084949;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28334750;28510447;28514659;28832583;28860189;28904123;29178645;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29695869;29774655;29786170;30026550;30192525;30315122;30410026;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31611695;31717259;31723267;31844290;31848261;31998317;32139460;32157095;32161166;32265295;32357974;32387766;32554502;32897882;32910990;32938616;32983136;33141586;33161513;33288886;33298915;33392160;33592498;33691108;33912179;33968037;34171305;34211107;34509645;34932366;35051231;35561310;35580925;36010968;36215666;36284347;37938771;6693436;9211966;9512526", "class_list": "", "function": "Acute depletion of telomerase components DKC1 and NOP10 induces oxidative stress and disrupts ribosomal biogenesis via NPM1 and activation of the P53 pathway., [RefSeq, PubMed]; NOP10 predicts lung cancer prognosis and its associated small nucleolar RNAs drive proliferation and migration., [RefSeq, PubMed]; Nucleolar protein 10 (NOP10) predicts poor prognosis in invasive breast cancer., [RefSeq, PubMed]; Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis., [RefSeq, PubMed]; Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:32554502). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0034513 box H/ACA snoRNA binding;GO:0070034 telomerase RNA binding;GO:0030515 snoRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0005697 telomerase holoenzyme complex;GO:0031429 box H/ACA snoRNP complex;GO:0072589 box H/ACA scaRNP complex", "go_biological_process": "GO:0090671 telomerase RNA localization to Cajal body;GO:0001522 pseudouridine synthesis;GO:0031118 rRNA pseudouridine synthesis;GO:0031120 snRNA pseudouridine synthesis;GO:0007004 telomere maintenance via telomerase", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q9NPE3-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99457-1", "uniprot_id": [ { "id": "NP1L3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99457", "type": "external" } ], "mass": 57593.0, "length": 506, "protein_name": "Nucleosome assembly protein 1-like 3", "gene_name": "NAP1L3", "organism": "Human", "refseq_name": "nucleosome assembly protein 1-like 3", "refseq_ac": [ { "id": "NP_004529", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004529", "type": "external" } ], "gene_names_uniprotkb": "NAP1L3; BNAP; MB20", "gene_names_refseq": "MB20; NAP1L3; NPL3", "protein_names_uniprotkb": "Nucleosome assembly protein 1-like 3; Histone chaperone NAP1L3", "protein_names_refseq": "histone chaperone NAP1L3; nucleosome assembly protein 1-like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:4675)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;28832583;29557506;30046127;31154438;31848261;32701410;35051231;35580925;37074911;37938771;8976385;9526061", "class_list": "", "function": "Histone chaperone (By similarity). May play a role in cellular differentiation (PubMed:30046127)., [UniProtKB, PubMed, UniProtKB]; Nucleosome Assembly Protein 1-Like 3 Enhances Cisplatin Resistance of Ovarian Cancer Cell by Activating Transforming Growth Factor-Beta Pathway., [RefSeq, PubMed]; This gene is intronless and encodes a member of the nucleosome assembly protein (NAP) family. This gene is linked closely to a region of genes responsible for several X-linked cognitive disability syndromes. [provided by RefSeq, Dec 2010]., [RefSeq]; We demonstrate that HOXA3 and HOXA5 genes are markedly upregulated when NAP1L3 is suppressed in umbilical cord blood (UCB) haematopoietic stem cells (HSCs). Taken together, our findings establish an important role for NAP1L3 in haematopoietic stem cells homeostasis and haematopoietic differentiation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RCM0;O60788", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006334 nucleosome assembly", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q99457-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y639-2", "uniprot_id": [ { "id": "NPTN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y639", "type": "external" } ], "mass": 44387.0, "length": 398, "protein_name": "Neuroplastin", "gene_name": "NPTN", "organism": "Human", "refseq_name": "neuroplastin isoform c precursor", "refseq_ac": [ { "id": "NP_001154835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154835", "type": "external" } ], "gene_names_uniprotkb": "NPTN; SDFR1; SDR1", "gene_names_refseq": "GP55; GP65; NPTN; SDFR1; SDR1; np55; np65", "protein_names_uniprotkb": "Neuroplastin; SDR-1; Stromal cell-derived receptor 1", "protein_names_refseq": "SDR-1; neuroplastin isoform c precursor; stromal cell derived factor receptor 1; stromal cell-derived receptor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27020); (R-HSA-977443)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10.1101/2023.09.13.557529;10449790;10542332;1315307;1321750;15024690;15340161;1664410;17123723;17196182;17364682;17398006;18382465;1849271;19159218;19349973;19828786;24190977;2465923;25418920;25576301;25880248;26992070;27503893;27600516;27846572;28218747;2847710;28832583;28904123;29242379;29314611;29437277;29508533;29557506;29741879;30190470;30315122;30410026;30484775;30488668;30524438;30720226;30779550;30833945;31020640;31154438;31217245;31222486;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32502341;32938616;32983136;33123756;33214551;33592498;33912179;33968037;33981976;34171305;34357683;34509645;34725712;34932366;35051231;35251023;35289036;35318648;35580925;36215666;36241641;36284347;37074911;38665916;40596516;40914422;41018975;8264558;8382267;8391122;8632757;8719414;8719416", "class_list": "", "function": "Accessory subunit of plasma membrane calcium-transporting ATPase ATP2B2/PMCA2 that stabilizes the transporter at the cell surface (By similarity). Also acts as a chaperone for ATP2B1; stabilizes ATP2B1 and increases its ATPase activity (PubMed:30190470). Probable homophilic and heterophilic cell adhesion molecule involved in long term potentiation at hippocampal excitatory synapses through activation of p38MAPK (By similarity). May also regulate neurite outgrowth by activating the FGFR1 signaling pathway (By similarity). May play a role in synaptic plasticity (By similarity). Promotes localization of XKR8 at the cell membrane (PubMed:27503893)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Cryoelectron microscopy structure offers important insight into how the NPTN binds to the PMCA1. Publication Status: Online-Only, [RefSeq, PubMed]; Expression profiling of NPTNbeta showed significantly high expression levels in lung cancer cell lines. NPTNbeta has strong ability to induce cancer-related cellular events, including anchorage-independent growth, motility and invasiveness, in lung cancer cells in response to extracellular S100A8/A9, eventually leading to the expression of a cancer disseminative phenotype in lung tissue in vivo., [RefSeq, PubMed]; Hippocampal expression of neuroplastin is altered in Alzheimer's disease., [RefSeq, PubMed]; In human brain np65 is prominently present in cerebellum while np55 is the predominant isoform in mouse and rat cerebellum., [RefSeq, PubMed]; NPTN may be involved in genetic susceptibility to schizophrenia., [RefSeq, PubMed]; This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, 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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 37, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2RAL7;B7Z4D3;B7ZLL2;Q17R52;Q59EJ9;Q6NVX7;Q9Y640", "ec_number_list": [], "go_molecular_function": "GO:0005105 type 1 fibroblast growth factor receptor binding;GO:0050839 cell adhesion molecule binding;GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0014069 postsynaptic density;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0010976 positive regulation of neuron projection development;GO:0006874 intracellular calcium ion homeostasis;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q9Y639-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92890-2", "uniprot_id": [ { "id": "UFD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92890", "type": "external" } ], "mass": 34500.0, "length": 307, "protein_name": "Ubiquitin recognition factor in ER-associated degradation protein 1", "gene_name": "UFD1", "organism": "Human", "refseq_name": "ubiquitin recognition factor in ER-associated degradation protein 1 isoform B", "refseq_ac": [ { "id": "NP_001030324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030324", "type": "external" } ], "gene_names_uniprotkb": "UFD1; UFD1L", "gene_names_refseq": "UFD1L; UFD1", "protein_names_uniprotkb": "Ubiquitin recognition factor in ER-associated degradation protein 1; UB fusion protein 1; Ubiquitin fusion degradation protein 1", "protein_names_refseq": "UB fusion protein 1; ubiquitin fusion degradation 1 like; ubiquitin fusion degradation protein 1 homolog; ubiquitin recognition factor in ER-associated degradation protein 1 isoform B; ubiquitin recognition factor in ER-associated degradation protein 1", "tax_id": 9606, "disease": "DiGeorge syndrome (Disease Ontology:DOID:11198); velocardiofacial syndrome (Disease Ontology:DOID:12583); neurodegenerative disease (Disease Ontology:DOID:1289); schizophrenia (Disease Ontology:DOID:5419); cleft palate (Disease Ontology:DOID:674)", "pathway": " (hsa:7353); (R-HSA-110320); (R-HSA-5689880); (R-HSA-8951664); (R-HSA-9755511); (R-HSA-9918487); (R-HSA-9954709)", "pathway_count": 7, "publication_count": 335, "publication_id_list": "10.1101/2023.09.13.557529;10444327;10535940;10597293;10801132;10811609;10856253;10878807;10973499;10982817;11069780;11259415;11292861;11292862;11454738;11566882;11574150;11585840;11733065;11923872;11961546;11979512;12101228;12186903;12198130;12504025;12504026;12526791;12538644;12609982;12682069;12700136;12759363;12816948;12910480;12917689;12917691;14517290;14585973;14661020;14688281;14690597;14757770;14764894;14978097;15053880;15149598;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15916963;15983046;16139798;16171779;16214042;16286508;16359182;16401342;16547496;16647857;16707496;16790436;16901786;16943200;16962933;16964248;17081101;17132228;17183367;17220875;17287340;17290220;17322306;17332328;17443180;17497243;17512459;17785452;17873522;17924679;17979524;17980597;17981138;18093314;18172164;18206966;18238777;18273910;18467330;18491316;18632802;18636086;18669648;18767875;18775313;18776931;18805092;18826954;18851830;18926707;19015242;19135894;19188362;19250909;19321346;19363159;19398555;19415658;19424180;19617556;19651622;19664994;19664995;19690332;19748355;19838211;19874889;19910467;20008555;20068231;20096447;20112406;20159558;20166139;20228808;20368735;20378532;20452972;20495340;20501646;21220506;21239494;21362556;21391649;21406692;21447816;21463634;21571647;21596315;21659512;21734707;21778237;21791603;21849505;21863050;21940857;21962518;22029577;22085928;22128162;22216260;22306028;22466964;22537386;22681887;22789539;22872865;22902628;22959436;23042605;23042607;23159851;23186163;23201271;23274085;23333871;23395819;23401859;23453757;23481700;23486064;23535662;23535663;23563313;23583660;23685075;23824326;23825189;23912815;23986495;24011591;24056413;24076655;24160817;24260525;24298019;24366543;24493797;24636985;24768535;24793695;24793696;24896179;25040165;25132172;25197364;25305019;25314029;25349211;25355947;25418920;25469497;25531226;25576301;25578727;25578875;25645385;25793262;25880248;25921531;26117325;26154972;26344709;26375851;26460955;26471729;26583321;26632597;26735137;26811146;26906416;26929215;26942676;26992070;27030794;27222660;27565346;27600516;27920218;28063628;28115426;28218747;28228285;28380357;28510447;28832583;28834231;28855257;28904123;29117567;29153394;29233872;29242379;29393594;29450944;29493099;29526543;29557506;29632046;29632312;29786170;29789417;29930882;30244831;30315122;30410026;30429286;30524438;30610225;31011209;31020640;31217245;31546975;31844290;32005965;32157095;32265295;32284348;32293500;32350084;32357974;32387766;32488085;32502341;32640524;32672401;32890404;32897882;32938616;32983136;33009401;33141586;33298915;33406423;33444648;33537174;33592498;33691108;33717175;33791708;33859744;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34696522;34725712;34932366;35051231;35154160;35251023;35561310;35580925;35585045;35920641;36010968;36087575;36215666;36241641;36284347;37676773;37938771;38177122;7578059;9063746;9790970;9887101;9891082", "class_list": "", "function": "A functional analysis of its 5' regulatory region, [RefSeq, PubMed]; Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and NPLOC4, which binds to RIGI and recruits RNF125 to promote ubiquitination and degradation of RIGI (PubMed:26471729)., [UniProtKB, UniProtKB, PubMed]; Multiple UBX proteins reduce the ubiquitin threshold of the mammalian p97-UFD1-NPL4 unfoldase. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis for the interaction between human Npl4 and Npl4-binding motif of human Ufd1., [RefSeq, PubMed]; The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]., [RefSeq]; Ufd1l is localized around the nucleus and it does not interfere with Fas-and ceramide-mediated apoptosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MW31;Q9Y5N0", "ec_number_list": [], "go_molecular_function": "GO:0036435 K48-linked polyubiquitin modification-dependent protein binding;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0036501 UFD1-NPL4 complex", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0001501 skeletal system development;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 34.0, "record_id": "Q92890-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAC8-1", "uniprot_id": [ { "id": "UBTD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAC8", "type": "external" } ], "mass": 25938.0, "length": 227, "protein_name": "Ubiquitin domain-containing protein 1", "gene_name": "UBTD1", "organism": "Human", "refseq_name": "ubiquitin domain-containing protein 1", "refseq_ac": [ { "id": "NP_079230", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079230", "type": "external" } ], "gene_names_uniprotkb": "UBTD1", "gene_names_refseq": "UBTD1", "protein_names_uniprotkb": "Ubiquitin domain-containing protein 1", "protein_names_refseq": "ubiquitin domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80019)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "24211586;25382750;29393594;29493099;30429286;30573663;30804013;31848261;32157095;32483419;32488085;32938616;33592498;33884955;33912179;33968037;34087483;34357683;35318648;39003255;39095643", "class_list": "", "function": "Biochemical characterization of recombinant UBTD1 and UBE2D demonstrated that the two proteins form a stable, stoichiometric complex that can be purified to near homogeneity., [RefSeq, PubMed]; CXCR4 mediates matrix stiffness-induced downregulation of UBTD1 driving hepatocellular carcinoma progression via YAP signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Establish UBTD1 as a regulator of cellular senescence that mediates p53 function, and provide insights into the mechanism of Mdm2 inhibition that impacts p53 dynamics during cellular senescence and tumourigenesis., [RefSeq, PubMed]; Low levels of UBTD1 are associated with poor patient survival, suggesting that biological functions of UBTD1 could be beneficial in limiting cancer progression., [RefSeq, PubMed]; May be involved in the regulation of cellular senescence through a positive feedback loop with TP53. Is a TP53 downstream target gene that increases the stability of TP53 protein by promoting the ubiquitination and degradation of MDM2., [UniProtKB, PubMed]; The degradation of many proteins is carried out by the ubiquitin pathway in which proteins are targeted for degradation by covalent conjugation of the polypeptide ubiquitin. This gene encodes a protein that belongs to the ubiquitin family of proteins. The encoded protein is thought to regulate E2 ubiquitin conjugating enzymes belonging to the UBE2D family. [provided by RefSeq, Mar 2014]., [RefSeq]; The ubiquitin-like protein UBTD1 promotes colorectal cancer progression by stabilizing c-Myc to upregulate glycolysis. Publication Status: Online-Only, [RefSeq, PubMed]; UBTD1 is a potential prognostic biomarker in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; UBTD1 regulates ceramide balance and endolysosomal positioning to coordinate EGFR signaling. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "D3DR57;Q53HI3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9HAC8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y216-1", "uniprot_id": [ { "id": "MTMR7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y216", "type": "external" } ], "mass": 75833.0, "length": 660, "protein_name": "Phosphatidylinositol-3-phosphate phosphatase MTMR7", "gene_name": "MTMR7", "organism": "Human", "refseq_name": "phosphatidylinositol-3-phosphate phosphatase MTMR7", "refseq_ac": [ { "id": "NP_004677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004677", "type": "external" } ], "gene_names_uniprotkb": "MTMR7", "gene_names_refseq": "MTMR7", "protein_names_uniprotkb": "Phosphatidylinositol-3-phosphate phosphatase MTMR7; 3.1.3.64; Inositol 1,3-bisphosphate phosphatase; Myotubularin-related protein 7", "protein_names_refseq": "inositol 1,3-bisphosphate phosphatase; phosphatidylinositol-3-phosphate phosphatase MTMR7; phosphatidylinositol-3-phosphate phosphatase", "tax_id": 9606, "disease": "centronuclear myopathy X-linked (Disease Ontology:DOID:0111225); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); centronuclear myopathy (Disease Ontology:DOID:14717)", "pathway": " (hsa:9108); (R-HSA-1660517); (R-HSA-1855183)", "pathway_count": 3, "publication_count": 35, "publication_id_list": "10419465;10593988;10766823;10805725;11237011;11706043;11733541;12270933;12890864;1377913;14660569;14722070;15024000;15474001;15504367;16787938;17068342;1718960;17556371;17651088;18364358;18452278;18524850;18950639;35051231;7608176;7628435;7721860;7761412;8006039;8390685;8999962;9295334;9430698;9736772", "class_list": "", "function": "Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3-bisphosphate (Ins(1,3)P2)., [UniProtKB, UniProtKB]; This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L4K9;B4DG87;Q68DX4", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.64", "type": "external" } ], "go_molecular_function": "GO:0106018 phosphatidylinositol-3,5-bisphosphate phosphatase activity;GO:0004438 phosphatidylinositol-3-phosphate phosphatase activity;GO:0004725 protein tyrosine phosphatase activity;GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;GO:0016312 inositol bisphosphate phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006470 protein dephosphorylation;GO:0006661 phosphatidylinositol biosynthetic process;GO:0046856 phosphatidylinositol dephosphorylation;GO:0046488 phosphatidylinositol metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9Y216-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1L188-1", "uniprot_id": [ { "id": "NDUF8_HUMAN", "url": "https://www.uniprot.org/uniprot/A1L188", "type": "external" } ], "mass": 7756.0, "length": 74, "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8", "gene_name": "NDUFAF8", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 isoform 2", "refseq_ac": [ { "id": "NP_001079990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001079990", "type": "external" } ], "gene_names_uniprotkb": "NDUFAF8; C17orf89", "gene_names_refseq": "C17orf89; MC1DN34; NDUFAF8", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8", "protein_names_refseq": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 isoform 2; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 34 (Disease Ontology:DOID:0112091)", "pathway": " (hsa:284184); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "11220739;11237011;17936786;19752196;20406883;20552642;20858599;21924235;23553477;24191001;25678554;27499296;27626371;28510447;28832583;28834231;28904123;29242379;31666358;31866046;32157095;32320651;32387766;32938616;33879611;33882309;33936100;34171305;34561969;35333655;35614220;35705054;38199007;9571201", "class_list": "", "function": "Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) (PubMed:27499296). Required to stabilize NDUFAF5 (PubMed:27499296)., [UniProtKB, PubMed]; Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "A1L188-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6C9-1", "uniprot_id": [ { "id": "MTCH2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6C9", "type": "external" } ], "mass": 33331.0, "length": 303, "protein_name": "Mitochondrial carrier homolog 2", "gene_name": "MTCH2", "organism": "Human", "refseq_name": "mitochondrial carrier homolog 2 isoform 1x", "refseq_ac": [ { "id": "NP_001304160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304160", "type": "external" } ], "gene_names_uniprotkb": "MTCH2; HSPC032; MIMP", "gene_names_refseq": "HSPC032; MIMP; MTCH2; SLC25A50", "protein_names_uniprotkb": "Mitochondrial carrier homolog 2; Met-induced mitochondrial protein", "protein_names_refseq": "met-induced mitochondrial protein; mitochondrial carrier homolog 2 isoform 1x; mitochondrial carrier homolog 2; solute carrier family 25, member 50", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:23788)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "11237011;12407445;15899861;17697703;19079261;19164386;19413330;24714562;24715725;25418920;25576301;25802875;25892735;26154972;26375851;26728094;26992070;27397612;27452731;27846572;27920218;28218747;28228285;28514659;28832583;28834231;29242379;29331515;29393594;29493099;29557506;29632046;29769354;29786170;29789417;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32488085;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34932366;35051231;35083852;35154160;35251023;35561310;35580925;36010968;36241641;36264797;36581221;38158152;38177900;38665916;38727866;40914422", "class_list": "", "function": "MTCH2 cooperates with MFN2 and lysophosphatidic acid synthesis to sustain mitochondrial fusion., [RefSeq, PubMed]; Mtch2 is a mitochondrial target of tBID and possibly participates in the mitochondrial apoptotic program., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Protein insertase that mediates insertion of transmembrane proteins into the mitochondrial outer membrane (PubMed:36264797). Catalyzes insertion of proteins with alpha-helical transmembrane regions, such as signal-anchored, tail-anchored and multi-pass membrane proteins (PubMed:36264797). Does not mediate insertion of beta-barrel transmembrane proteins (PubMed:36264797). Also acts as a receptor for the truncated form of pro-apoptotic BH3-interacting domain death agonist (p15 BID) and has therefore a critical function in apoptosis (By similarity). Regulates the quiescence/cycling of hematopoietic stem cells (HSCs) (By similarity). Acts as a regulator of mitochondrial fusion, essential for the naive-to-primed interconversion of embryonic stem cells (ESCs) (By similarity). Acts as a regulator of lipid homeostasis and has a regulatory role in adipocyte differentiation and biology (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; The biology of mitochondrial carrier homolog 2. Review article, [RefSeq, PubMed]; The mitochondrial carrier homolog 2 is involved in down-regulation of influenza A virus replication. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the SLC25 family of nuclear-encoded transporters that are localized in the inner mitochondrial membrane. Members of this superfamily are involved in many metabolic pathways and cell functions. Genome-wide association studies in human have identified single-nucleotide polymorphisms in several loci associated with obesity. This gene is one such locus, which is highly expressed in white adipose tissue and adipocytes, and thought to play a regulatory role in adipocyte differentiation and biology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target that can produce two isoforms from the same mRNA by use of alternative in-frame translation termination codons. [provided by RefSeq, Dec 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7L8", "ec_number_list": [], "go_molecular_function": "GO:0032977 membrane insertase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane", "go_biological_process": "GO:0070585 protein localization to mitochondrion;GO:0045040 protein insertion into mitochondrial outer membrane;GO:0043065 positive regulation of apoptotic process;GO:0055088 lipid homeostasis;GO:2000738 positive regulation of stem cell differentiation", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9Y6C9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV20-1", "uniprot_id": [ { "id": "MTNA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV20", "type": "external" } ], "mass": 39150.0, "length": 369, "protein_name": "Methylthioribose-1-phosphate isomerase", "gene_name": "MRI1", "organism": "Human", "refseq_name": "methylthioribose-1-phosphate isomerase isoform 1", "refseq_ac": [ { "id": "NP_001026897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026897", "type": "external" } ], "gene_names_uniprotkb": "MRI1; MRDI; PRO21135", "gene_names_refseq": "M1Pi; MRDI; MRI1; MTNA; Ypr118w", "protein_names_uniprotkb": "Methylthioribose-1-phosphate isomerase; 5.3.1.23; M1Pi; MTR-1-P isomerase; Mediator of RhoA-dependent invasion; S-methyl-5-thioribose-1-phosphate isomerase; Translation initiation factor eIF-2B subunit alpha/beta/delta-like protein", "protein_names_refseq": "MTR-1-P isomerase; S-methyl-5-thioribose-1-phosphate isomerase 1; mediator of RhoA-dependent invasion; methylthioribose-1-phosphate isomerase homolog; methylthioribose-1-phosphate isomerase isoform 1; translation initiation factor eIF-2B subunit alpha/beta/delta-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84245); (R-HSA-1237112)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "11443076;12975309;15843022;17786183;19620624;22464254;23124037;23859498;24715725;26154972;26811146;27600516;27920218;28411811;28510447;28832583;28904123;29242379;29314611;29557506;30429286;3091600;31092671;31217245;31586937;31844290;31998317;32157095;32387766;32938616;33141586;33298915;33936100;33968037;34171305;34211107;34229054;34357683;34932366;35051231;35580925;36284347;37938771;40914422;6785752", "class_list": "", "function": "Catalyzes the interconversion of methylthioribose-1-phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1-P). Independently from catalytic activity, promotes cell invasion in response to constitutive RhoA activation by promoting FAK tyrosine phosphorylation and stress fiber turnover., [UniProtKB, HAMAP, PubMed]; Data indicate that the structural elements in MRDI distal from the MTR-1-P catalytic site are responsible for the invasion phenotype., [RefSeq, PubMed]; Elevated expression of EI2BL promoted non-small cell lung cancer cell proliferation, migration and invasion., [RefSeq, PubMed]; Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain., [RefSeq, PubMed]; This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [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": 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": "Q8NDC9", "ec_number_list": [ { "id": "5.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.23", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046523 S-methyl-5-thioribose-1-phosphate isomerase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0042995 cell projection", "go_biological_process": "GO:0019509 L-methionine salvage from methylthioadenosine", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9BV20-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0I1-1", "uniprot_id": [ { "id": "MTMRC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0I1", "type": "external" } ], "mass": 86148.0, "length": 747, "protein_name": "Myotubularin-related protein 12", "gene_name": "MTMR12", "organism": "Human", "refseq_name": "myotubularin-related protein 12 isoform 1", "refseq_ac": [ { "id": "NP_001035536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035536", "type": "external" } ], "gene_names_uniprotkb": "MTMR12; KIAA1682; PIP3AP", "gene_names_refseq": "3-PAP; MTMR12; PIP3AP", "protein_names_uniprotkb": "Myotubularin-related protein 12; 3-PAP; 3-phosphatase adapter protein; Inactive phosphatidylinositol 3-phosphatase 12; Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit", "protein_names_refseq": "3-phosphatase adapter protein; 3-phosphatase adapter subunit; inactive phosphatidylinositol 3-phosphatase 12; myotubularin-related protein 12 isoform 1; phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit; phosphatidylinositol-3 phosphate 3-phosphatase adaptor subunit; phosphatidylinositol-3-phosphate associated protein", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:54545); (R-HSA-1660516)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10.1101/2023.09.13.557529;10419465;10766823;10805725;11237011;11302699;11504939;11706043;11733541;11923287;12847286;15716355;1655747;16787938;17556371;17651088;17924679;18524850;18950639;21081650;21451436;23186163;23818870;25645385;25869668;25892735;26496610;28218747;28228285;28832583;28834231;29242379;29437277;29493099;29557506;29632711;30315122;30429286;31217245;31530632;31844290;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33633747;33968037;34509645;34932366;35051231;35580925;36010968;36241641;7608176;7628435;8999962;9295334", "class_list": "", "function": "Acts as an adapter for the myotubularin-related phosphatases (PubMed:11504939, PubMed:12847286, PubMed:23818870). Regulates phosphatase MTM1 protein stability and possibly its intracellular location (PubMed:23818870). By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 proteins result in reduction of both myotubularin and MTMR12, [RefSeq, PubMed]; Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP., [RefSeq, PubMed]; Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]., [RefSeq]; This study does not support the association of PDZD2, GOLPH3, and MTMR12 genes with schizophrenia., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q69YJ4;Q6PFW3;Q96QU2;Q9NX27", "ec_number_list": [], "go_molecular_function": "GO:0019211 phosphatase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0030017 sarcomere;GO:0016529 sarcoplasmic reticulum", "go_biological_process": "GO:0006661 phosphatidylinositol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9C0I1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H195-1", "uniprot_id": [ { "id": "MUC3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H195", "type": "external" } ], "mass": 1397846.0, "length": 13477, "protein_name": "Mucin-3B", "gene_name": "MUC3B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MUC3B", "gene_names_refseq": "", "protein_names_uniprotkb": "Mucin-3B; Intestinal mucin-3B; MUC-3B", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-5083625); (R-HSA-5083632); (R-HSA-5083636); (R-HSA-5621480); (R-HSA-913709); (R-HSA-977068)", "pathway_count": 6, "publication_count": 64, "publication_id_list": "10330415;10405327;10430883;10504389;10742600;10753916;10973822;11042166;11062056;11110698;11283017;11289722;11304796;11606584;11821425;12464682;12855678;12958310;1329093;14656219;15466199;15486459;15560372;15599692;15620693;15687324;16151858;16251947;16319059;17050534;17113861;18490740;18537974;18776906;18818202;19617566;21880719;22041900;22183981;22461326;23053572;23507963;23602766;2373995;24643043;25153226;30779550;30833945;31154438;31848261;7655172;8333853;8598452;8611500;8920913;8972730;9042338;9295285;9334251;9394011;9417100;9435216;9915862;9988682", "class_list": "", "function": "Major glycoprotein component of a variety of mucus gels. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces (By similarity)., [UniProtKB]", "predicted_glycosites": 32, "predicted_n_glycosites": 0, "predicted_o_glycosites": 32, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 32, "binding_glycan_count": 0, "secondary_ac_list": "Q6W762;Q7LDU5;Q9GZZ2;Q9UN95", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005796 Golgi lumen;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9H195-1", "record_type": "protein", "filter_code": "0000000.0000101.000010.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H903-4", "uniprot_id": [ { "id": "MTD2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H903", "type": "external" } ], "mass": 37315.0, "length": 347, "protein_name": "Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial", "gene_name": "MTHFD2L", "organism": "Human", "refseq_name": "bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001138450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138450", "type": "external" } ], "gene_names_uniprotkb": "MTHFD2L", "gene_names_refseq": "MTHFD2L", "protein_names_uniprotkb": "Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial; MTHFD2-like; NADP-dependent methylenetetrahydrofolate dehydrogenase 2-like protein", "protein_names_refseq": "MTHFD2-like; NADP-dependent methylenetetrahydrofolate dehydrogenase 2-like protein; bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 2; bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial; probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2; tetrahydrofolate dehydrogenase/cyclohydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:441024); (R-HSA-196757)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10091649;10347183;10978331;12937168;16171773;17129779;17308042;17962486;19424049;19948730;20498374;21163947;21238436;21876188;2248959;23409799;23934049;24733394;25418920;25576301;25645385;2605182;26768311;26992070;27846572;27920218;28063628;28649982;28832583;28834231;29242379;29393594;29632046;29786170;3053686;31154438;31530632;31844290;31848261;32157095;32387766;32423175;32658475;33053560;33163492;34561969;35051231;35712863;3801490;3871768;4066659;6323448;7726158;7852378;8218174;8522195;8662720;9753690", "class_list": "", "function": "Bifunctional mitochondrial folate-interconverting enzyme that has both NAD/NADP-dependent methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities., [UniProtKB, UniProtKB]; The First Structure of Human MTHFD2L and Its Implications for the Development of Isoform-Selective Inhibitors., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q6P079;Q8N560", "ec_number_list": [ { "id": "6.3.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.3", "type": "external" }, { "id": "1.5.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.1.5", "type": "external" }, { "id": "3.5.4.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.9", "type": "external" }, { "id": "1.5.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.1.15", "type": "external" } ], "go_molecular_function": "GO:0004477 methenyltetrahydrofolate cyclohydrolase activity;GO:0004488 methylenetetrahydrofolate dehydrogenase (NADP+) activity;GO:0004487 methylenetetrahydrofolate dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0046655 folic acid metabolic process;GO:0035999 tetrahydrofolate interconversion;GO:0006164 purine nucleotide biosynthetic process;GO:0009086 methionine biosynthetic process;GO:0009256 10-formyltetrahydrofolate metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9H903-4", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBK8-2", "uniprot_id": [ { "id": "MTRR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBK8", "type": "external" } ], "mass": 77674.0, "length": 698, "protein_name": "Methionine synthase reductase", "gene_name": "MTRR", "organism": "Human", "refseq_name": "methionine synthase reductase", "refseq_ac": [ { "id": "NP_002445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002445", "type": "external" } ], "gene_names_uniprotkb": "MTRR", "gene_names_refseq": "MSR; MTRR; cblE", "protein_names_uniprotkb": "Methionine synthase reductase; 1.16.1.8; AqCbl reductase; Aquacobalamin reductase; MSR", "protein_names_refseq": "[methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing); aqCbl reductase; aquacobalamin reductase; methionine synthase reductase, mitochondrial; methionine synthase reductase", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); myelodysplastic syndrome (Disease Ontology:DOID:0050908); non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); anencephaly (Disease Ontology:DOID:0060668); spina bifida (Disease Ontology:DOID:0080016); neural tube defect (Disease Ontology:DOID:0080074); homocystinuria-megaloblastic anemia cblE type (Disease Ontology:DOID:0112255); heart disease (Disease Ontology:DOID:114); Parkinson's disease (Disease Ontology:DOID:14330); heart septal defect (Disease Ontology:DOID:1681); pancreatic cancer (Disease Ontology:DOID:1793); meningioma (Disease Ontology:DOID:3565); hepatocellular carcinoma (Disease Ontology:DOID:684); abdominal aortic aneurysm (Disease Ontology:DOID:7693); ulcerative colitis (Disease Ontology:DOID:8577); acute myeloid leukemia (Disease Ontology:DOID:9119); homocystinuria (Disease Ontology:DOID:9263); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:4552); (R-HSA-156581); (R-HSA-1614635); (R-HSA-3359467); (R-HSA-3359469); (R-HSA-9759218)", "pathway_count": 6, "publication_count": 111, "publication_id_list": "10.1101/2023.09.13.557529;10331075;10444342;10484769;10514445;10564814;10644686;10978155;11511179;12068375;12163696;12375236;12438653;12514191;12555939;12590576;13981612;15523652;15714522;15788214;15913339;15979034;16267626;16281286;16311595;16407288;16769880;17477549;17892308;18221906;18230605;18251506;18385497;18457970;18539146;18779575;19243433;19447654;19801555;20068231;20120036;20657474;21071249;21193388;21697092;22156578;22832074;23186163;23270877;23481700;24275569;24714562;24734162;25418920;25505266;25576301;25589627;2567699;26154972;26992070;27570878;27600516;27771510;27846572;27920218;28063628;28228285;28510447;28832583;28834231;28904123;29242379;29493099;29632046;29786170;30282455;30315122;30410026;30484775;30779550;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32488085;32897882;32938616;32983136;33717175;33797888;33912179;33968037;34087483;34932366;35051231;35318648;35580925;36241641;37531512;38514198;38634541;38716581;4390543;8968736;8968737;9175157;9501215;9586999", "class_list": "", "function": "Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms with fatty acids profile and risk of neural tube defects., [RefSeq, PubMed]; Association of MTR and MTRR genes and oral health-related quality of life in children with dental caries. Publication Status: Online-Only, [RefSeq, PubMed]; Interactions between vitamin B2, the MTRR rs1801394 and MTR rs1805087 genetic polymorphisms, and colorectal cancer risk in a Korean population., [RefSeq, PubMed]; Key enzyme in methionine and folate homeostasis responsible for the reactivation of methionine synthase (MTR/MS) activity by catalyzing the reductive methylation of MTR-bound cob(II)alamin (PubMed:17892308). Cobalamin (vitamin B12) forms a complex with MTR to serve as an intermediary in methyl transfer reactions that cycles between MTR-bound methylcob(III)alamin and MTR bound-cob(I)alamin forms, and occasional oxidative escape of the cob(I)alamin intermediate during the catalytic cycle leads to the inactive cob(II)alamin species (Probable). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR and MTR which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:27771510). Also necessary for the utilization of methyl groups from the folate cycle, thereby affecting transgenerational epigenetic inheritance (By similarity). Also acts as a molecular chaperone for methionine synthase by stabilizing apoMTR and incorporating methylcob(III)alamin into apoMTR to form the holoenzyme (PubMed:16769880). Also serves as an aquacob(III)alamin reductase by reducing aquacob(III)alamin to cob(II)alamin; this reduction leads to stimulation of the conversion of apoMTR and aquacob(III)alamin to MTR holoenzyme (PubMed:16769880)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; MTHFR and MTRR gene polymorphisms in patients with chronic hepatitis B virus infections in Zigong, Sichuan Province., [RefSeq, PubMed]; This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 19, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O60471;Q32MA9;Q7Z4M8", "ec_number_list": [ { "id": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "type": "external" }, { "id": "1.16.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.8", "type": "external" }, { "id": "1.16.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.6", "type": "external" }, { "id": "2.5.1.151", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.151", "type": "external" } ], "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0071949 FAD binding;GO:0070402 NADPH binding;GO:0010181 FMN binding;GO:0003958 NADPH-hemoprotein reductase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0009235 cobalamin metabolic process;GO:0046655 folic acid metabolic process;GO:0043418 homocysteine catabolic process;GO:0009086 methionine biosynthetic process;GO:0050667 homocysteine metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q9UBK8-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKD2-1", "uniprot_id": [ { "id": "MRT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKD2", "type": "external" } ], "mass": 27560.0, "length": 239, "protein_name": "mRNA turnover protein 4 homolog", "gene_name": "MRTO4", "organism": "Human", "refseq_name": "mRNA turnover protein 4 homolog", "refseq_ac": [ { "id": "NP_057267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057267", "type": "external" } ], "gene_names_uniprotkb": "MRTO4; C1orf33; MRT4", "gene_names_refseq": "C1orf33; MRT4; MRTO4; dJ657E11.4", "protein_names_uniprotkb": "mRNA turnover protein 4 homolog; Ribosome assembly factor MRTO4", "protein_names_refseq": "60S acidic ribosomal protein PO; MRT4, mRNA turnover 4, homolog; MRTO4 ribosome maturation factor; mRNA turnover 4 homolog; mRNA turnover protein 4 homolog; ribosome assembly factor MRTO4", "tax_id": 9606, "disease": "", "pathway": " (hsa:51154)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "12429849;18452278;19007248;19651622;20068231;20083226;22121020;22645359;25576301;26024233;26494001;26992070;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29786170;30429286;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32265295;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33592498;33633747;33717175;33912179;33981976;34019948;34171305;34229054;34561969;34932366;35051231;35138101;35318648;35580925;36010968;37217939;37938771;38778508;40914422", "class_list": "", "function": "Characterization of Mrt4; findings show Mrt4 is a trans-acting factor involved in ribosome maturation, with nucleus-cytoplasm shuttling capacity, [RefSeq, PubMed]; Component of the ribosome assembly machinery. Nuclear paralog of the ribosomal protein P0, it binds pre-60S subunits at an early stage of assembly in the nucleolus, and is replaced by P0 in cytoplasmic pre-60S subunits and mature 80S ribosomes., [UniProtKB, PubMed]; Human Mrt4 undergoes phosphorylation in vivo and serines S229, S233, and S235 are phosphorylated by CK2 kinase in vitro., [RefSeq, PubMed]; MRTO4 Enhances Glycolysis to Facilitate HCC Progression by Inhibiting ALDOB. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in mRNA turnover and ribosome assembly. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KNB3;Q5TG55;Q96SS6;Q9BPV9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0030687 preribosome, large subunit precursor", "go_biological_process": "GO:0042273 ribosomal large subunit biogenesis;GO:0000956 nuclear-transcribed mRNA catabolic process;GO:0006364 rRNA processing;GO:0000027 ribosomal large subunit assembly", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9UKD2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y483-1", "uniprot_id": [ { "id": "MTF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y483", "type": "external" } ], "mass": 67090.0, "length": 593, "protein_name": "Metal-response element-binding transcription factor 2", "gene_name": "MTF2", "organism": "Human", "refseq_name": "metal-response element-binding transcription factor 2 isoform b", "refseq_ac": [ { "id": "NP_001157864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157864", "type": "external" } ], "gene_names_uniprotkb": "MTF2; PCL2", "gene_names_refseq": "M96; MTF2; PCL2; TDRD19A; dJ976O13.2", "protein_names_uniprotkb": "Metal-response element-binding transcription factor 2; Metal regulatory transcription factor 2; Metal-response element DNA-binding protein M96; Polycomb-like protein 2; hPCl2", "protein_names_refseq": "hPCl2; metal regulatory transcription factor 2; metal-response element DNA-binding protein M96; metal-response element-binding transcription factor 2 isoform b; polycomb-like 2; polycomb-like protein 2; putative DNA binding protein; tudor domain containing 19A", "tax_id": 9606, "disease": "", "pathway": " (hsa:22823); (R-HSA-212300)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "12351676;12435631;15099518;16357870;16431907;18669648;18974356;19026781;19571010;20075857;20123894;20937877;20974918;21170310;22323599;22466170;23142980;23186163;23228662;23326524;23431328;23481700;23679895;24074865;24366607;24715725;25418920;25505266;25576301;25892735;26154972;26811146;26992070;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29557506;30315122;30410026;30779550;30923826;31086175;31530632;31844290;31848261;31959557;32157095;32357974;32387766;32488085;32938616;33298915;33392160;33836029;33912179;33936100;33968037;33981976;34171305;34509645;34932366;35051231;35154160;35580925;36010968;36284347;36581221;37027952;37895228;39118123", "class_list": "", "function": "Comprehensive Pan-Cancer Analysis of MTF2 Effects on Human Tumors., [RefSeq, PubMed]; MTF2 facilitates the advancement of osteosarcoma through mediating EZH2/SFRP1/Wnt signaling. Publication Status: Online-Only, [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:23142980, PubMed:23228662, PubMed:31959557). Regulates the transcriptional networks during embryonic stem cell self-renewal and differentiation (By similarity). Promotes recruitment of the PRC2 complex to the inactive X chromosome in differentiating XX ES cells and PRC2 recruitment to target genes in undifferentiated ES cells (By similarity). Required to repress Hox genes by enhancing H3K27me3 methylation of the PRC2 complex (By similarity). In some conditions may act as an inhibitor of PRC2 activity: able to activate the CDKN2A gene and promote cellular senescence by suppressing the catalytic activity of the PRC2 complex locally (By similarity). Binds to the metal-regulating-element (MRE) of MT1A gene promoter (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Tissue-Specific Tumour Suppressor and Oncogenic Activities of the Polycomb-like Protein MTF2. 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": 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": "A6NGQ9;A8K2Q3;B1AKT5;B1AKT6;Q96G26;Q9UES9;Q9UP40", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001222 transcription corepressor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0035098 ESC/E(Z) complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0048863 stem cell differentiation;GO:0019827 stem cell population maintenance;GO:0007379 segment specification;GO:0045814 negative regulation of gene expression, epigenetic", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9Y483-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4I5-1", "uniprot_id": [ { "id": "MTL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4I5", "type": "external" } ], "mass": 55025.0, "length": 508, "protein_name": "Tesmin", "gene_name": "TESMIN", "organism": "Human", "refseq_name": "tesmin isoform b", "refseq_ac": [ { "id": "NP_001034745", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034745", "type": "external" } ], "gene_names_uniprotkb": "TESMIN; MTL5", "gene_names_refseq": "CXCDC2; MTL5; MTLT; TESMIN", "protein_names_uniprotkb": "Tesmin; Metallothionein-like 5, testis-specific; Testis-specific metallothionein-like protein", "protein_names_refseq": "CXC domain containing 2; metallothionein-like 5, testis-specific (tesmin); tesmin isoform b; testis-specific metallothionein-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9633)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10191092;11237011;19608861;23481700;25576301;29485866;32387766;32502341;33592498;33912179;33968037;33981976;34087483;35051231;35249447;38283987", "class_list": "", "function": "Clinical Significance and Functional Insights of Tesmin in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Essential for normal spermatogenesis and male fertility (By similarity). Required for the completion of meiosis in male germ cells (By similarity)., [UniProtKB, UniProtKB]; Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Metallothionein-like 5 expression is correlated with poor prognosis and promotes proliferation of cervical squamous cell carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K8J3;Q4G182;Q6P2E2;Q8NCC8", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006355 regulation of DNA-templated transcription;GO:0007140 male meiotic nuclear division;GO:0030003 intracellular monoatomic cation homeostasis", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9Y4I5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCS4-1", "uniprot_id": [ { "id": "NKX26_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCS4", "type": "external" } ], "mass": 32121.0, "length": 301, "protein_name": "Homeobox protein Nkx-2.6", "gene_name": "NKX2-6", "organism": "Human", "refseq_name": "homeobox protein Nkx-2.6", "refseq_ac": [ { "id": "NP_001129743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129743", "type": "external" } ], "gene_names_uniprotkb": "NKX2-6; NKX2F", "gene_names_refseq": "CSX2; CTHM; NKX2-6; NKX2F; NKX4-2", "protein_names_uniprotkb": "Homeobox protein Nkx-2.6; Homeobox protein NK-2 homolog F", "protein_names_refseq": "NK2 transcription factor related, locus 6; homeobox protein NK2 homolog F; homeobox protein NKX2.6; homeobox protein Nkx-2.6; tinman homolog; tinman paralog", "tax_id": 9606, "disease": "familial atrial fibrillation (Disease Ontology:DOID:0050650); ventricular septal defect (Disease Ontology:DOID:1657); double outlet right ventricle (Disease Ontology:DOID:6406)", "pathway": " (hsa:137814)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "15146197;15649947;18939937;24421281;25195019;25319568;25380965;25892735;28411811;30379171;32198970;37217939", "class_list": "", "function": "Acts as a transcriptional activator (PubMed:15649947). In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development., [UniProtKB, UniProtKB, PubMed]; Data associated genetically defective NK2 homeobox 6 (NKX2-6) with enhanced susceptibility to atrial fibrillation (AF)., [RefSeq, PubMed]; Heterozygous mutations in Nkx2.6, p.V176M and p.K177X, were identified in 2 unrelated patients, one with tetralogy of Fallot and one with double outlet of right ventricle and ventricular septal defect. Increased vulnerability to TOF or DORV is discussed., [RefSeq, PubMed]; NKX2-6 plays a role in human cardiogenesis., [RefSeq, PubMed]; NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus., [RefSeq, PubMed]; NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases., [RefSeq, PubMed]; This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]., [RefSeq]; This study firstly links NKX2.6 loss-of-function mutation with increased susceptibility to isolated VSD., [RefSeq, PubMed]; Weakly activates transcription of a Cx40 promoter, may have role in heart development, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A6NCS4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NHN6-1", "uniprot_id": [ { "id": "NPB15_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NHN6", "type": "external" } ], "mass": 51267.0, "length": 443, "protein_name": "Nuclear pore complex-interacting protein family member B15", "gene_name": "NPIPB15", "organism": "Human", "refseq_name": "nuclear pore complex-interacting protein family member B15 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001293023", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293023", "type": "external" } ], "gene_names_uniprotkb": "NPIPB15; NPIPL2", "gene_names_refseq": "A-761H5.4; NPIPB15; NPIPL2", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member B15; Nuclear pore complex-interacting protein-like 2", "protein_names_refseq": "nuclear pore complex interacting protein-like 2; nuclear pore complex-interacting protein family member B15 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:440348)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "32488085;39894887", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "C9J9U8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NHN6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJ46-1", "uniprot_id": [ { "id": "NKX63_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJ46", "type": "external" } ], "mass": 28948.0, "length": 265, "protein_name": "Homeobox protein Nkx-6.3", "gene_name": "NKX6-3", "organism": "Human", "refseq_name": "homeobox protein Nkx-6.3 isoform 2", "refseq_ac": [ { "id": "NP_689781", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689781", "type": "external" } ], "gene_names_uniprotkb": "NKX6-3", "gene_names_refseq": "NKX6-3; NKX6.3", "protein_names_uniprotkb": "Homeobox protein Nkx-6.3", "protein_names_refseq": "NK6 transcription factor related, locus 3; homeobox protein Nkx-6.3 isoform 2; homeobox protein Nkx-6.3", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:157848)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "26314965;26743476;27333045;28584243;30514953;30686901;30710084;35051231", "class_list": "", "function": "Data suggest that NK6 homeobox 3 (NKX6.3) may control the fate of gastric mucosal cells and function as a gastric tumor suppressor., [RefSeq, PubMed]; NKX6.3 inhibits gastric mucosal atrophy by regulating amyloid beta accumulation and inflammatory reaction in gastric epithelial cells., [RefSeq, PubMed]; Putative transcription factor, which may be involved in patterning of central nervous system and pancreas., [UniProtKB]; Suggest that NKX6.3 might function as a master regulator of gastric differentiation by affecting SOX2 and CDX2 expression and the NKX6.3 inactivation may result in intestinal metaplasia in gastric epithelial cells., [RefSeq, PubMed]; The NKX family of homeodomain proteins controls numerous developmental processes. Members of the NKX6 subfamily, including NKX6-3, are involved in development of the central nervous system (CNS), gastrointestinal tract, and pancreas (Alanentalo et al., 2006 [PubMed 16326147]).[supplied by OMIM, Mar 2008]., [RefSeq]; The expression level of NKX6.3 is involved in regulation of gastric cancer progression and expression of Wnt/beta-catenin and Rho-GTPase pathway-related genes in clinical samples., [RefSeq, PubMed]; These results identify genetic variants associated with the efficacy of weight loss in obese subjects and identify a role for NKX6.3 in lipid metabolism, and thereby possibly weight control. Publication Status: Online-Only, [RefSeq, PubMed]; These results indicate that NKX6.3 depletion in gastric epithelial cells activates AICDA/APOBEC family, leading to accumulation of genetic mutations and eventually driving the development of gastric cancers. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest that NKX6.3 inhibits ROS production by inducing the expression of Hace1 via down-regulating NF-kB and DNMT1 activity in gastric epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q96LR0", "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NJ46-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MTQ0-1", "uniprot_id": [ { "id": "NOTO_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MTQ0", "type": "external" } ], "mass": 27003.0, "length": 251, "protein_name": "Homeobox protein notochord", "gene_name": "NOTO", "organism": "Human", "refseq_name": "homeobox protein notochord", "refseq_ac": [ { "id": "NP_001127934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127934", "type": "external" } ], "gene_names_uniprotkb": "NOTO", "gene_names_refseq": "NOTO", "protein_names_uniprotkb": "Homeobox protein notochord", "protein_names_refseq": "homeobox protein notochord; notochord homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:344022); (R-HSA-9796292)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "10441331;21741376;31840817;31844290;35051231;39894887", "class_list": "", "function": "Transcription regulator acting downstream of both FOXA2 and Brachyury (T) during notochord development. Required for node morphogenesis. Is essential for cilia formation in the posterior notochord (PNC) and for left-right patterning; acts upstream of FOXJ1 and RFX3 in this process and is required for the expression of various components important for axonemal assembly and function. Plays a role in regulating axial versus paraxial cell fate. Activates the transcription of ciliary proteins C11orf97 homolog, FAM183B and SPACA9 in the embryonic ventral node (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "B4DJ59;B7ZAU5", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007417 central nervous system development;GO:0007420 brain development;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A8MTQ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N183-1", "uniprot_id": [ { "id": "NDUF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N183", "type": "external" } ], "mass": 19856.0, "length": 169, "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2", "gene_name": "NDUFAF2", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2", "refseq_ac": [ { "id": "NP_777549", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777549", "type": "external" } ], "gene_names_uniprotkb": "NDUFAF2; NDUFA12L", "gene_names_refseq": "B17.2L; MC1DN10; MMTN; NDUFA12L; NDUFAF2; mimitin", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2; B17.2-like; B17.2L; MMTN; Mimitin; Myc-induced mitochondrial protein; NDUFA12-like protein", "protein_names_refseq": "Myc-induced mitochondrial protein; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2; NADH dehydrogenase (ubiquinone) complex I, assembly factor 2; NADH dehydrogenase 1 alpha subcomplex assembly factor 2; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2; NDUFA12-like protein; mimitin, mitochondrial", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 10 (Disease Ontology:DOID:0112075)", "pathway": " (hsa:91942); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "11220739;11237011;15774466;16200211;17383918;17936786;18180188;19064571;19384974;19752196;20406883;20552642;20571988;20858599;21924235;23186163;23553477;24191001;25576301;25645385;25678554;27499296;27543614;27626371;28228285;28446606;28510447;28832583;28904123;29437277;29493099;29557506;30315122;30429286;31092671;31373491;31666358;31844290;31866046;32157095;32320651;32350084;32897882;33465208;33691108;33879611;33882309;33912179;33968037;34171305;34357683;35051231;35333655;35614220;36215666;36241641;36703939;36738241;37217939;37938771;38199007;38237647;38949024;40596516;9571201", "class_list": "", "function": "Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:16200211, PubMed:27626371). Is involved in the initial steps of cilia formation, including removal of CP110 from the mother centrioles, docking of membrane vesicles to the mother centrioles, and establishment of the transition zone (PubMed:38949024)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; B17.2L occurred in a 830 kDa subcomplex specifically in patients with mutations in subunits NDUFV1 and NDUFS4, [RefSeq, PubMed]; NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]., [RefSeq]; Ndufaf2, a protein in mitochondrial complex I, interacts in vivo with methionine sulfoxide reductases., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The novel gene mimitin is a direct transcriptional target of c-Myc, and is involved in Myc-dependent cell proliferation in esophageal squamous cell carcinoma cells, [RefSeq, PubMed]; Upregulation of NDUFAF2 in Lung Adenocarcinoma Is a Novel Independent Prognostic Biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "A8K5I1", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q8N183-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NG41-1", "uniprot_id": [ { "id": "NPB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NG41", "type": "external" } ], "mass": 13097.0, "length": 125, "protein_name": "Neuropeptide B", "gene_name": "NPB", "organism": "Human", "refseq_name": "neuropeptide B preproprotein", "refseq_ac": [ { "id": "NP_683694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_683694", "type": "external" } ], "gene_names_uniprotkb": "NPB; PPL7; PPNPB", "gene_names_refseq": "L7; NPB; PPL7; PPNPB", "protein_names_uniprotkb": "Neuropeptide B; Preproprotein L7; hPPL7", "protein_names_refseq": "neuropeptide B preproprotein; prepro-NPB; preproneuropeptide B; preproprotein L7", "tax_id": 9606, "disease": "", "pathway": " (hsa:256933); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 113, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11237011;11322507;11385580;11457843;11562423;11683476;11773063;12118011;12120503;12401809;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;23446738;23690594;24906252;2534964;26154972;2649896;2748346;27496565;2834384;30484775;31611695;3202875;33392160;3366244;3525564;37938771;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Identified a neuropeptide modified with bromine; an endogenous ligand for GPR7, [RefSeq, PubMed]; May be involved in the regulation of feeding, neuroendocrine system, memory, learning and in the afferent pain pathway., [UniProtKB]; This gene encodes a member of the neuropeptide B/W family of proteins and preproprotein that is proteolytically processed to generate multiple protein products. The encoded products include neuropeptide B-23 and a C-terminally extended form, neuropeptide B-29, which are characterized by an N-terminal brominated tryptophan amino acid. Both of the encoded peptides bind with higher affinity to neuropeptide B/W (NPB/W) receptor 1 compared to the related NPB/W receptor 2. These peptides may regulate feeding, pain perception, and stress in rodents. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0AUX9;A6NJD6;B9EJC3", "ec_number_list": [], "go_molecular_function": "GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0007631 feeding behavior", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q8NG41-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14524-1", "uniprot_id": [ { "id": "NEMP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14524", "type": "external" } ], "mass": 50640.0, "length": 444, "protein_name": "Nuclear envelope integral membrane protein 1", "gene_name": "NEMP1", "organism": "Human", "refseq_name": "nuclear envelope integral membrane protein 1 isoform a precursor", "refseq_ac": [ { "id": "NP_001124435", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124435", "type": "external" } ], "gene_names_uniprotkb": "NEMP1; KIAA0286; TMEM194A; TMEM194", "gene_names_refseq": "NEMP1; TMEM194A; TMEM194", "protein_names_uniprotkb": "Nuclear envelope integral membrane protein 1", "protein_names_refseq": "nuclear envelope integral membrane protein 1 isoform a precursor; transmembrane protein 194A; transmembrane protein 194", "tax_id": 9606, "disease": "", "pathway": " (hsa:23306)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18669648;18691976;24190977;24275569;24715725;25418920;25469497;25645385;26811146;26929215;26992070;27600516;27846572;27920218;28218747;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29741879;30315122;30429286;31079234;31154438;31844290;31854049;32157095;32265295;32357974;32387766;32897882;32923640;32938616;32983136;33091337;33141586;33592498;33912179;33968037;34087483;34509645;34932366;35561310;35580925;37074911;37938771;9179496", "class_list": "", "function": "NEMP1 shows responsibility for the resistance of tamoxifen through regulating NCOA1 in breast cancer cells, [RefSeq, PubMed]; Study observes that TMEM194A overexpression is associated with considerable augmentation of cell proliferation, which strongly supported its oncogenic role in breast cancer cells. TMEM194A functions in separation of centrosomes from the nuclear envelope. However, its expression is negatively regulated by miR-1285 in breast cancer cells., [RefSeq, PubMed]; Together with EMD, contributes to nuclear envelope stiffness in germ cells (PubMed:32923640). Required for female fertility (By similarity). Essential for normal erythropoiesis (By similarity). Required for efficient nuclear envelope opening and enucleation during the late stages of erythroblast maturation (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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q17R72;Q68DH0;Q6IQ25", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005637 nuclear inner membrane", "go_biological_process": "GO:0043249 erythrocyte maturation;GO:0071763 nuclear membrane organization;GO:0043131 erythrocyte enucleation", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "O14524-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95096-1", "uniprot_id": [ { "id": "NKX22_HUMAN", "url": "https://www.uniprot.org/uniprot/O95096", "type": "external" } ], "mass": 30133.0, "length": 273, "protein_name": "Homeobox protein Nkx-2.2", "gene_name": "NKX2-2", "organism": "Human", "refseq_name": "homeobox protein Nkx-2.2 isoform 1", "refseq_ac": [ { "id": "NP_002500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002500", "type": "external" } ], "gene_names_uniprotkb": "NKX2-2; NKX2.2; NKX2B", "gene_names_refseq": "NKX2-2; NKX2.2; NKX2B", "protein_names_uniprotkb": "Homeobox protein Nkx-2.2; Homeobox protein NK-2 homolog B", "protein_names_refseq": "NK2 transcription factor related, locus 2; NK2 transcription factor-like protein B; homeobox protein NK-2 homolog B; homeobox protein Nkx-2.2 isoform 1; homeobox protein Nkx-2.2", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); congenital heart disease (Disease Ontology:DOID:1682); demyelinating disease (Disease Ontology:DOID:3213)", "pathway": " (hsa:4821); (R-HSA-210745); (R-HSA-210746)", "pathway_count": 3, "publication_count": 9, "publication_id_list": "12403815;16511571;29557506;30683671;32065490;32716131;34985580;37821536;9703340", "class_list": "", "function": "A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis., [RefSeq, PubMed]; Does PAX7 and NKX2.2 immunoreactivity in Ewing sarcoma have prognostic significance?, [RefSeq, PubMed]; Rapid induction of gliogenesis in OLIG2 and NKX2.2-expressing progenitors-derived spheroids., [RefSeq, PubMed]; Reversible expansion of pancreatic islet progenitors derived from human induced pluripotent stem cells., [RefSeq, PubMed]; Study found that activation of Gli2 transcription factor induces the expression of Nkx2.2. inducing Ewing-like sarcomas., [RefSeq, PubMed]; The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional activator involved in the development of insulin-producing beta cells in the endocrine pancreas (By similarity). May also be involved in specifying diencephalic neuromeric boundaries, and in controlling the expression of genes that play a role in axonal guidance. Binds to elements within the NEUROD1 promoter (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "", "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:0000987 cis-regulatory region sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0007420 brain development;GO:0032570 response to progesterone", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O95096-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG21-1", "uniprot_id": [ { "id": "NHLC4_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG21", "type": "external" } ], "mass": 12631.0, "length": 123, "protein_name": "NHL-repeat-containing protein 4", "gene_name": "NHLRC4", "organism": "Human", "refseq_name": "NHL-repeat-containing protein 4", "refseq_ac": [ { "id": "NP_001288088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288088", "type": "external" } ], "gene_names_uniprotkb": "NHLRC4", "gene_names_refseq": "NHLRC4", "protein_names_uniprotkb": "NHL-repeat-containing protein 4", "protein_names_refseq": "NHL-repeat-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:283948)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "28218747;28834231;29437277;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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B8ZZ27;Q8N233;Q96AX3;Q96S23", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P0CG21-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48681-1", "uniprot_id": [ { "id": "NEST_HUMAN", "url": "https://www.uniprot.org/uniprot/P48681", "type": "external" } ], "mass": 177439.0, "length": 1621, "protein_name": "Nestin", "gene_name": "NES", "organism": "Human", "refseq_name": "nestin", "refseq_ac": [ { "id": "NP_006608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006608", "type": "external" } ], "gene_names_uniprotkb": "NES; Nbla00170", "gene_names_refseq": "NES; Nbla00170", "protein_names_uniprotkb": "Nestin", "protein_names_refseq": "nestin", "tax_id": 9606, "disease": "brain ischemia (Disease Ontology:DOID:2316); nephrosis (Disease Ontology:DOID:2527); acute kidney failure (Disease Ontology:DOID:3021); brain infarction (Disease Ontology:DOID:3454)", "pathway": " (hsa:10763)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11278541;12832492;12880961;1478958;15345747;17081983;18318008;18452278;18669648;19413330;19651622;19664994;19664995;19691289;20068231;20166139;21406692;22223895;23186163;23301498;24275569;25114211;25418920;25576301;25645385;26992070;27600516;27862975;27869121;29242379;29557506;30429286;31154438;31530632;31844290;31848261;32157095;32161166;32488085;32938616;33592498;33912179;33968037;34019948;34725712;35051231;35580925;36382360;36413852;36580660;36649044;37938771;38154357;38554317;38665916;39531497;39534244;41018975;9917366", "class_list": "", "function": "Expression of HIF-1alpha and Nestin in oral squamous cell carcinoma and its association with vasculogenic mimicry., [RefSeq, PubMed]; Expression of Markers Ki-67, Nestin, VEGF, CD34 and Apoptosis in Relatively Healthy Lung Tissue with Non-Changed and Metaplastic Bronchial Epithelium. Publication Status: Online-Only, [RefSeq, PubMed]; Hyperglycemia affects neuronal differentiation and Nestin, FOXO1, and LMO3 mRNA expression of human Wharton's jelly mesenchymal stem cells of children from diabetic mothers., [RefSeq, PubMed]; Nestin expression in osteocytes following myeloablation and during bone marrow metastasis., [RefSeq, PubMed]; Nestin may be a candidate marker for differential diagnosis between small duct type and large duct type intrahepatic cholangiocarcinomas., [RefSeq, PubMed]; Required for brain and eye development. Promotes the disassembly of phosphorylated vimentin intermediate filaments (IF) during mitosis and may play a role in the trafficking and distribution of IF proteins and other cellular factors to daughter cells during progenitor cell division. Required for survival, renewal and mitogen-stimulated proliferation of neural progenitor cells (By similarity)., [UniProtKB]; This gene encodes a member of the intermediate filament protein family and is expressed primarily in nerve cells. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 76, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O00552;Q3LIF5;Q5SYZ6", "ec_number_list": [], "go_molecular_function": "GO:0019215 intermediate filament binding;GO:0031730 CCR5 chemokine receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005882 intermediate filament;GO:0045111 intermediate filament cytoskeleton", "go_biological_process": "GO:0000086 G2/M transition of mitotic cell cycle;GO:0032091 negative regulation of protein binding;GO:0043086 negative regulation of catalytic activity;GO:0007417 central nervous system development;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P48681-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07444-1", "uniprot_id": [ { "id": "NKG2E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07444", "type": "external" } ], "mass": 27100.0, "length": 240, "protein_name": "NKG2-E type II integral membrane protein", "gene_name": "KLRC3", "organism": "Human", "refseq_name": "NKG2-E type II integral membrane protein isoform E", "refseq_ac": [ { "id": "NP_002252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002252", "type": "external" } ], "gene_names_uniprotkb": "KLRC3; NKG2E", "gene_names_refseq": "KLRC3; NKG2-E; NKG2E", "protein_names_uniprotkb": "NKG2-E type II integral membrane protein; NK cell receptor E; NKG2-E-activating NK receptor", "protein_names_refseq": "NK cell receptor E; NKG2-E type II integral membrane protein isoform E; NKG2-E type II integral membrane protein; NKG2-E-activating NK receptor; killer cell lectin-like receptor subfamily C, member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:3823)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10201920;11751968;27641066;28832583;29467457;29545803;39401997;8276468;9683661", "class_list": "glycogene", "function": "ADSL is involved in endometrial cancer aggressiveness by regulating expression of killer cell lectin-like receptor C3., [RefSeq, PubMed]; DNA Methylation of KLRC1 and KLRC3 in Autoimmune Thyroiditis: Perspective of Different Water Iodine Exposure., [RefSeq, PubMed]; KLRC3 gene expression is linked to glioblastoma aggressiveness., [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. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells., [UniProtKB]; These observations raise the intriguing possibility that NKG2H may be a novel marker for T cells able to negatively regulate T cell responses. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 316, "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": "Q8WXA4;Q96RL0;Q9UP04", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0030246 carbohydrate binding;GO:0062081 activating MHC class Ib receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0002228 natural killer cell mediated immunity;GO:0006968 cellular defense response;GO:0045954 positive regulation of natural killer cell mediated cytotoxicity;GO:0002223 stimulatory C-type lectin receptor signaling pathway;GO:0032814 regulation of natural killer cell activation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q07444-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0D2K0-1", "uniprot_id": [ { "id": "NIPA4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0D2K0", "type": "external" } ], "mass": 44005.0, "length": 404, "protein_name": "Magnesium transporter NIPA4", "gene_name": "NIPAL4", "organism": "Human", "refseq_name": "magnesium transporter NIPA4 isoform 1", "refseq_ac": [ { "id": "NP_001092757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092757", "type": "external" } ], "gene_names_uniprotkb": "NIPAL4; ICHN; NIPA4", "gene_names_refseq": "ARCI6; ICHTHYIN; ICHYN; NIPA4; NIPAL4; SLC57A6", "protein_names_uniprotkb": "Magnesium transporter NIPA4; Ichthyin; NIPA-like protein 4; Non-imprinted in Prader-Willi/Angelman syndrome region protein 4", "protein_names_refseq": "NIPA-like protein 4; magnesium transporter NIPA4 isoform 1; magnesium transporter NIPA4; non-imprinted in Prader-Willi/Angelman syndrome region protein 4", "tax_id": 9606, "disease": "autosomal recessive congenital ichthyosis 6 (Disease Ontology:DOID:0060715); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:348938); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10571941;11237011;11326272;11326338;11401429;12297987;12297989;12951058;13130483;14984739;15317751;15804357;17166836;17557927;18057121;18347014;1840603;18930737;19197536;19262752;19423540;1955075;19717468;20016120;22119785;22649030;23169667;23481700;24725410;24790029;26456858;26620797;26635246;26824658;27102039;28832583;31883158;34669720;37458571;4018271;7615546;7619062;7749638;9114041;9537412", "class_list": "", "function": "A recurrent missense mutation, p.A176D, was identified in individuals with autosomal recessive ichthyosis., [RefSeq, PubMed]; Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Sr(2+) and Fe(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway (PubMed:15317751)., [UniProtKB, PubMed, UniProtKB]; Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis. Publication Status: Online-Only, [RefSeq, PubMed]; Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions., [RefSeq, PubMed]; Mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Six homozygous mutations including one nonsense and five missense mutations were identified in a new gene, ichthyin, on chromosome 5q33 in patients with autosomal recessive congenital ichthyosis (ichthyin)., [RefSeq, PubMed]; The results suggest that liarozole exerts a therapeutic effect in lamellar ichthyosis by mildly affecting the expression of retinoid- regulated genes in epidermis., [RefSeq, PubMed]; This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]., [RefSeq]; Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8S6F1;A8S6F5;A8S6F8;B4DLF3;Q0D2J8;Q0D2J9", "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:0015095 magnesium ion transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0015693 magnesium ion transport", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q0D2K0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12986-1", "uniprot_id": [ { "id": "NFX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12986", "type": "external" } ], "mass": 124395.0, "length": 1120, "protein_name": "Transcriptional repressor NF-X1", "gene_name": "NFX1", "organism": "Human", "refseq_name": "transcriptional repressor NF-X1 isoform 1", "refseq_ac": [ { "id": "NP_002495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002495", "type": "external" } ], "gene_names_uniprotkb": "NFX1; NFX2", "gene_names_refseq": "NFX1; NFX2; TEG-42; Tex42", "protein_names_uniprotkb": "Transcriptional repressor NF-X1; 2.3.2.-; Nuclear transcription factor, X box-binding protein 1", "protein_names_refseq": "nuclear transcription factor, X box-binding protein 1; transcriptional repressor NF-X1 isoform 1; transcriptional repressor NF-X1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4799)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;10500182;15371341;17081983;17267499;18220336;18669648;19413330;19651622;19664994;20068231;23186163;24714562;24715725;25576301;26154972;26728094;26992070;27600516;27846572;28218747;28832583;28834231;29242379;29437277;29508533;29557506;29632046;29632711;30379171;30410026;30429286;30903928;31059266;31217245;31375530;31844290;31848261;31937595;32157095;32161166;32265295;32502341;33141586;33592498;33912179;33936100;34211107;34357683;34693597;35051231;35494241;36284347;7964459", "class_list": "", "function": "Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Isoform 3 binds to the X-box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination., [UniProtKB, PubMed, PubMed, PubMed]; High expression of NFX1-123 in HPV positive head and neck squamous cell carcinomas., [RefSeq, PubMed]; Initial mRNP binding to the NPC did not require NXF1 in the NPC, whereas release into the cytoplasm did. NXF1 localization in the NPC did not require RNA or RNA binding. Superresolution microscopy showed that NXF1 consistently occupied positions on the cytoplasmic side of the NPC., [RefSeq, PubMed]; MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; NFX1-123 in mediating epithelial differentiation through the JNK signaling pathway., [RefSeq, PubMed]; We found that NFX1-123 was a bona fide substrate of the deubiquitinase USP9X and that it could be degraded by the ubiquitin-proteasome system. The present study provided new insight into understanding the biological function of USP9X by targeting its substrate NFX1-123., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 10, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 22, "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": "A8K6H8;Q5VXW6;Q96EL5;Q9BXI1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006954 inflammatory response;GO:0016567 protein ubiquitination;GO:0006366 transcription by RNA polymerase II;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q12986-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15270-1", "uniprot_id": [ { "id": "NKX11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15270", "type": "external" } ], "mass": 44012.0, "length": 448, "protein_name": "NK1 transcription factor-related protein 1", "gene_name": "NKX1-1", "organism": "Human", "refseq_name": "NK1 transcription factor-related protein 1", "refseq_ac": [ { "id": "NP_001277008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277008", "type": "external" } ], "gene_names_uniprotkb": "NKX1-1; HPX153; SAX2", "gene_names_refseq": "HSPX153; NKX-1.1; NKX1-1; SAX2", "protein_names_uniprotkb": "NK1 transcription factor-related protein 1; HPX-153; Homeobox protein 153; Homeobox protein SAX-2; NKX-1.1", "protein_names_refseq": "HPX-153 homeobox; NK1 transcription factor related, locus 1; NK1 transcription factor-related protein 1; homeobox protein 153; homeobox protein SAX-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54729)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "7518789", "class_list": "", "function": "May be required for the coordinated crosstalk of factors involved in the maintenance of energy homeostasis, possibly by regulating the transcription of specific factors involved in energy balance., [UniProtKB, UniProtKB]; This gene encodes a transcription factor that belongs to NKX family of homeodomain-containing proteins which are critical regulators of organ development. In mice, the orthologous gene is expressed predominantly in the brainstem, in the vicinity of serotonergic neurons, and is required for the coordinated crosstalk of factors involved in the maintenance of energy homeostasis. Mice with a knockout of the orthologous gene lack subcutaneous fat and intra-abdominal epididymal and mesenteric white adipose tissue two weeks after birth, and die within three weeks after birth. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "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:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q15270-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUM7-1", "uniprot_id": [ { "id": "NPAS4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUM7", "type": "external" } ], "mass": 87117.0, "length": 802, "protein_name": "Neuronal PAS domain-containing protein 4", "gene_name": "NPAS4", "organism": "Human", "refseq_name": "neuronal PAS domain-containing protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001305733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305733", "type": "external" } ], "gene_names_uniprotkb": "NPAS4; BHLHE79; NXF; PASD10", "gene_names_refseq": "Le-PAS; NPAS4; NXF; PASD10; bHLHe79", "protein_names_uniprotkb": "Neuronal PAS domain-containing protein 4; Class E basic helix-loop-helix protein 79; HLH-PAS transcription factor NXF; Neuronal PAS4; PAS domain-containing protein 10; bHLHe79", "protein_names_refseq": "HLH-PAS transcription factor NXF; PAS domain-containing protein 10; class E basic helix-loop-helix protein 79; neuronal PAS domain-containing protein 4 isoform 2; neuronal PAS domain-containing protein 4; neuronal PAS4", "tax_id": 9606, "disease": "", "pathway": " (hsa:266743); (R-HSA-9768778); (R-HSA-9768919)", "pathway_count": 3, "publication_count": 18, "publication_id_list": "14701734;20977903;21368041;24291638;24465693;24887558;26690124;27472814;28082451;28832583;29557506;29915698;32938616;33719821;33758288;35051231;36343253;38062059", "class_list": "", "function": "A novel NXF signaling system on neural gene promoter may be a molecular target of the adverse effects of Sim2 in the mental retardation of Down's syndrome, [RefSeq, PubMed]; Circular RNA circ_0003420 mediates inflammation in sepsis-induced liver damage by downregulating neuronal PAS domain protein 4. Erratum:[Immunopharmacol Immunotoxicol. 2021 Oct;43(5):I. doi: 10.1080/08923973.2021.1975024. PMID: 34468267], [RefSeq, PubMed]; Downregulated NPAS4 in multiple brain regions is associated with major depressive disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders. Publication Status: Online-Only, [RefSeq, PubMed]; NPAS4 is expressed in endothelial cells, regulates VE-cadherin expression and regulates sprouting angiogenesis., [RefSeq, PubMed]; NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM, Mar 2008]., [RefSeq]; Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers reveal new dimerization modalities in the bHLH-PAS transcription factor family., [RefSeq, PubMed]; These results provide insight into the mechanisms of NPAS4/ARNT dimerisation and transcriptional activation. Publication Status: Online-Only, [RefSeq, PubMed]; This review summarizes the current knowledge of the roles that Npas4 may play in neuroinflammation and ischemia. [review] Review article Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor expressed in neurons of the brain that regulates the excitatory-inhibitory balance within neural circuits and is required for contextual memory in the hippocampus (By similarity). Plays a key role in the structural and functional plasticity of neurons (By similarity). Acts as an early-response transcription factor in both excitatory and inhibitory neurons, where it induces distinct but overlapping sets of late-response genes in these two types of neurons, allowing the synapses that form on inhibitory and excitatory neurons to be modified by neuronal activity in a manner specific to their function within a circuit, thereby facilitating appropriate circuit responses to sensory experience (By similarity). In excitatory neurons, activates transcription of BDNF, which in turn controls the number of GABA-releasing synapses that form on excitatory neurons, thereby promoting an increased number of inhibitory synapses on excitatory neurons (By similarity). In inhibitory neurons, regulates a distinct set of target genes that serve to increase excitatory input onto somatostatin neurons, probably resulting in enhanced feedback inhibition within cortical circuits (By similarity). The excitatory and inhibitory balance in neurons affects a number of processes, such as short-term and long-term memory, acquisition of experience, fear memory, response to stress and social behavior (By similarity). Acts as a regulator of dendritic spine development in olfactory bulb granule cells in a sensory-experience-dependent manner by regulating expression of MDM2 (By similarity). Efficient DNA binding requires dimerization with another bHLH protein, such as ARNT, ARNT2 or BMAL1 (PubMed:14701734). Can activate the CME (CNS midline enhancer) element (PubMed:14701734)., [UniProtKB, UniProtKB, PubMed]; We provide the first evidence that Npas4 is expressed during embryonic development and that it may have a developmental role that is unrelated to its function in the adult brain Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZL81;Q8N8S5;Q8N9Q9", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0044877 protein-containing complex binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0098794 postsynapse;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007612 learning;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8IUM7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUJ1-1", "uniprot_id": [ { "id": "NEUFC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUJ1", "type": "external" } ], "mass": 28690.0, "length": 264, "protein_name": "Neuferricin", "gene_name": "CYB5D2", "organism": "Human", "refseq_name": "neuferricin isoform 2", "refseq_ac": [ { "id": "NP_001241684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241684", "type": "external" } ], "gene_names_uniprotkb": "CYB5D2", "gene_names_refseq": "CYB5D2", "protein_names_uniprotkb": "Neuferricin; Cytochrome b5 domain-containing protein 2", "protein_names_refseq": "cytochrome b5 domain-containing protein 2; neuferricin isoform 2; neuferricin", "tax_id": 9606, "disease": "", "pathway": " (hsa:124936)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;16959974;22544926;22645359;23763432;25418920;25645385;26692170;26992070;27600516;27846572;28396637;28834231;29242379;29393594;29493099;29557506;29769354;29786170;30429286;31844290;32157095;32350084;32387766;32938616;33392160;33717175;33912179;33968037;34509645;35051231;35251023;35580925;36010968;39894887", "class_list": "", "function": "Alysis of CYB5D2 gene expression and genomic alteration data available from Oncomeinetrade mark detected significant reductions of CYB5D2 mRNA in 40 SCCs and CYB5D2 gene copy number in 107 SCCs. Collectively, we provide evidence that CYB5D2 is a candidate tumor suppressor of cervical tumorigenesis., [RefSeq, PubMed]; Heme-binding protein which promotes neuronal but not astrocyte differentiation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "B2R7R6;D3DTJ9;I3L1K2", "ec_number_list": [], "go_molecular_function": "GO:0005496 steroid binding;GO:0020037 heme binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8WUJ1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92859-1", "uniprot_id": [ { "id": "NEO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92859", "type": "external" } ], "mass": 160017.0, "length": 1461, "protein_name": "Neogenin", "gene_name": "NEO1", "organism": "Human", "refseq_name": "neogenin isoform 2 precursor", "refseq_ac": [ { "id": "NP_001166094", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166094", "type": "external" } ], "gene_names_uniprotkb": "NEO1; IGDCC2; NGN", "gene_names_refseq": "IGDCC2; NEO1; NGN; NTN1R2", "protein_names_uniprotkb": "Neogenin; Immunoglobulin superfamily DCC subclass member 2", "protein_names_refseq": "immunoglobulin superfamily DCC subclass member 2; neogenin homolog 1; neogenin isoform 2 precursor", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:4756); (R-HSA-373752); (R-HSA-525793)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10.1101/2023.09.13.557529;10330143;10601328;10805738;11782431;12154370;12634428;12833147;16335952;16762451;17174565;17204444;18287331;19349973;19564926;20160094;21149453;23090970;23186163;23481700;24190977;24275569;26992070;28218747;28228285;28467828;28832583;29093164;29242379;29391424;29493099;29557506;29632711;30379171;30429286;30459171;30833945;31020640;31154438;31217245;31844290;31848261;32157095;32231305;32350084;32357974;32387766;32502341;32938616;33141586;33298915;33571520;33592498;33850017;33912179;33968037;34087483;34171305;34357683;34405274;34509645;35051231;35154160;36010968;36284347;36361539;37074911;38156865;9069290;9121761;9169140;9418854;9786951;9858528;9858595;9988769", "class_list": "", "function": "Hepatic Expression of NTN4 and Its Receptors in Patients with Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Hippocampal astrocytic neogenin regulating glutamate uptake, a critical pathway for preventing epileptic response., [RefSeq, PubMed]; Multi-functional cell surface receptor regulating cell adhesion in many diverse developmental processes, including neural tube and mammary gland formation, myogenesis and angiogenesis. Receptor for members of the BMP, netrin, and repulsive guidance molecule (RGM) families. Netrin-Neogenin interactions result in a chemoattractive axon guidance response and cell-cell adhesion, the interaction between NEO1/Neogenin and RGMa and RGMb induces a chemorepulsive response., [UniProtKB, PubMed]; Neogenin and restin have roles in proproliferation/survival action on ovarian cancer cells, [RefSeq, PubMed]; Neogenin is highly expressed in diffuse intrinsic pontine glioma and influences tumor invasion., [RefSeq, PubMed]; Netrin-1 Stimulates Migration of Neogenin Expressing Aggressive Melanoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Netrin-1 promotes naive pluripotency through Neo1 and Unc5b co-regulation of Wnt and MAPK signaling., [RefSeq, PubMed]; This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 59, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 28, "disease_count": 1, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B7ZKM9;B7ZKN0;O00340;Q17RX1", "ec_number_list": [], "go_molecular_function": "GO:0045296 cadherin binding;GO:0070700 BMP receptor binding;GO:0039706 co-receptor binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0097708 intracellular vesicle;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030426 growth cone", "go_biological_process": "GO:0007155 cell adhesion;GO:0001764 neuron migration;GO:0098609 cell-cell adhesion;GO:0007411 axon guidance;GO:0099550 trans-synaptic signaling, modulating synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q92859-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSH3-1", "uniprot_id": [ { "id": "NICN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSH3", "type": "external" } ], "mass": 24202.0, "length": 213, "protein_name": "Nicolin-1", "gene_name": "NICN1", "organism": "Human", "refseq_name": "nicolin-1", "refseq_ac": [ { "id": "NP_115692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115692", "type": "external" } ], "gene_names_uniprotkb": "NICN1", "gene_names_refseq": "NICN1", "protein_names_uniprotkb": "Nicolin-1; NPCEDRG; PGs5; Tubulin polyglutamylase complex subunit 5", "protein_names_refseq": "NPCEDRG; PGs5; nicolin 1; nicolin-1; tubulin polyglutamylase complex subunit 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:84276); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "12392556;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;19692168;20307617;20519502;20821255;21074048;23358242;25103237;25468068;25957412;26992070;28832583;29146868;29242379;29393594;30315122;31844290;32157095;32161166;33298915;34171305;34211107;35580925;7452228", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Results provide important clues to elucidate the regulation of NPCEDRG gene expression and function, [RefSeq, PubMed]; This protein encoded by this gene localizes to the nucleus and is expressed in numerous tissues including brain, testis, liver, and kidney. This refseq contains genomic sequence in its 3' UTR which is not supported by experimental evidence. Computer predictions indicate that this region of the 3' UTR contains hairpin-forming self-complementary sequence which is possibly excised after transcription. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8IZQ2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005874 microtubule", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9BSH3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2Z4-1", "uniprot_id": [ { "id": "NKX24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2Z4", "type": "external" } ], "mass": 36179.0, "length": 354, "protein_name": "Homeobox protein Nkx-2.4", "gene_name": "NKX2-4", "organism": "Human", "refseq_name": "homeobox protein Nkx-2.4", "refseq_ac": [ { "id": "NP_149416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149416", "type": "external" } ], "gene_names_uniprotkb": "NKX2-4; NKX2D", "gene_names_refseq": "NKX2-4; NKX2.4; NKX2D", "protein_names_uniprotkb": "Homeobox protein Nkx-2.4; Homeobox protein NK-2 homolog D", "protein_names_refseq": "NK2 transcription factor homolog D; NK2 transcription factor related, locus 4; homeobox protein Nkx-2.4", "tax_id": 9606, "disease": "", "pathway": " (hsa:644524)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10818213;28411811;29557506;31844290;32157095;32387766;33912179;34768865;35051231;35251023;36459980", "class_list": "", "function": "Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor., [RefSeq, PubMed]; NKL Homeobox Genes NKX2-3 and NKX2-4 Deregulate Megakaryocytic-Erythroid Cell Differentiation in AML. Publication Status: Online-Only, [RefSeq, PubMed]; Probable transcription factor., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5VZV8", "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:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048513 animal organ development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9H2Z4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H841-2", "uniprot_id": [ { "id": "NPAL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H841", "type": "external" } ], "mass": 42156.0, "length": 383, "protein_name": "NIPA-like protein 2", "gene_name": "NIPAL2", "organism": "Human", "refseq_name": "NIPA-like protein 2 isoform a", "refseq_ac": [ { "id": "NP_001308564", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308564", "type": "external" } ], "gene_names_uniprotkb": "NIPAL2; NPAL2", "gene_names_refseq": "NIPAL2; NPAL2; SLC57A4", "protein_names_uniprotkb": "NIPA-like protein 2", "protein_names_refseq": "NIPA-like protein 2 isoform a; NIPA-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79815); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10571941;11326272;11326338;11401429;12297987;12297989;12951058;13130483;14984739;15804357;17166836;18057121;18347014;1840603;18930737;19262752;1955075;19717468;22119785;22649030;23169667;24725410;24790029;25892735;26620797;26635246;26824658;27102039;27543614;29242379;29632711;29769354;31848261;34357683;34433824;34932366;35051231;35580925;4018271;7615546;7619062;7749638;9114041;9537412", "class_list": "", "function": "", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A2RTY8", "ec_number_list": [], "go_molecular_function": "GO:0015095 magnesium ion transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0015693 magnesium ion transport", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9H841-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZP6-1", "uniprot_id": [ { "id": "NPAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZP6", "type": "external" } ], "mass": 120954.0, "length": 1156, "protein_name": "Nuclear pore-associated protein 1", "gene_name": "NPAP1", "organism": "Human", "refseq_name": "nuclear pore-associated protein 1", "refseq_ac": [ { "id": "NP_061831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061831", "type": "external" } ], "gene_names_uniprotkb": "NPAP1; C15orf2", "gene_names_refseq": "C15orf2; NPAP1", "protein_names_uniprotkb": "Nuclear pore-associated protein 1", "protein_names_refseq": "nuclear pore-associated protein 1; protein C15orf2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23742)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10783265;16959974;17337158;19843651;20020165;22694955;24482533;28832583;30484775;30779550;31217245;32350084;32488085;32938616;35051231;35251023;36010968", "class_list": "", "function": "C15orf2 gene is imprinted, with monoallelic expression from the paternal allele in fetal brain., [RefSeq, PubMed]; C15orf2 is part of the nuclear pore complex or its associated molecular networks., [RefSeq, PubMed]; May be involved in spermatogenesis., [UniProtKB]; NPAP1 is specific to primate species and absent from the 15q11q13-orthologous regions in all nonprimate mammals., [RefSeq, PubMed]; The results from this study show an involvement of microdeletions at 15q11.2 that predispose patients to idiopathic generalized epilepsies., [RefSeq, PubMed]; These results indicate that C15orf2 might have an important role in human biology and that a deficiency of C15orf2 might contribute to Prader-Willi syndrome., [RefSeq, PubMed]; This intronless retrogene is located in the Prader-Willi syndrome region on chromosome 15. This gene exhibits tissue-specific imprinting. Expression in adult testis and brain is biallelic, while expression in fetal brain is monoallelic and only from the paternal chromosome. The encoded protein is associated with the nuclear pore complex. [provided by RefSeq, Mar 2021]., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 129, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0017056 structural constituent of nuclear pore;GO:0008139 nuclear localization sequence binding", "go_cellular_component": "GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005637 nuclear inner membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006405 RNA export from nucleus;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9NZP6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UD57-1", "uniprot_id": [ { "id": "NKX12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UD57", "type": "external" } ], "mass": 32381.0, "length": 310, "protein_name": "NK1 transcription factor-related protein 2", "gene_name": "NKX1-2", "organism": "Human", "refseq_name": "NK1 transcription factor-related protein 2", "refseq_ac": [ { "id": "NP_001139812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139812", "type": "external" } ], "gene_names_uniprotkb": "NKX1-2; C10orf121; NKX1.1", "gene_names_refseq": "C10orf121; NKX-1.1; NKX1-2; SAX1; bB238F13.2", "protein_names_uniprotkb": "NK1 transcription factor-related protein 2; Homeobox protein SAX-1; NKX-1.1", "protein_names_refseq": "NK1 transcription factor related, locus 2; NK1 transcription factor-related protein 2; homeobox protein SAX-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:390010)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "36010968;7518789", "class_list": "", "function": "Transcriptional repressor. May play a role in early development as a Wnt/beta-catenin effector, hence controlling pluripotency and preimplantation development of embryonic stem cells. May promote adipogenesis in mesenchymal stem cells, possibly by inhibiting the expression of the antiadipogenic factor NR2F2. May inhibit osteoblastogenic differentiation., [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:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9UD57-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UMX5-1", "uniprot_id": [ { "id": "NENF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UMX5", "type": "external" } ], "mass": 18856.0, "length": 172, "protein_name": "Neudesin", "gene_name": "NENF", "organism": "Human", "refseq_name": "neudesin precursor", "refseq_ac": [ { "id": "NP_037481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037481", "type": "external" } ], "gene_names_uniprotkb": "NENF; CIR2; SPUF", "gene_names_refseq": "CIR2; NENF; SCIRP10; SPUF", "protein_names_uniprotkb": "Neudesin; Cell immortalization-related protein 2; Neuron-derived neurotrophic factor; Protein GIG47; SPUF protein; Secreted protein of unknown function", "protein_names_refseq": "SCIRP10-related protein; Spinal cord injury related protein 10; cell growth-inhibiting protein 47; cell immortalization-related protein 2; neudesin precursor; neuron-derived neurotrophic factor; secreted protein of unknown function", "tax_id": 9606, "disease": "", "pathway": " (hsa:29937)", "pathway_count": 1, "publication_count": 85, "publication_id_list": "10.1038/emboj.2013.79;15605373;16645950;18056703;19608861;20068231;21136679;22748190;22869377;23481700;23584533;23763432;24715725;24763612;25576301;25645385;25880248;26375851;26768311;26992070;27600516;27846572;27862975;27920218;28228285;28396637;28832583;29242379;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30192525;30315122;30429286;30524438;30779550;30953468;31154438;31217245;31222486;31536960;31611695;31844290;31848261;31937595;32157095;32265295;32314607;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33435641;33537174;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35251023;35561310;35580925;36010968;36215666;36241641;36284347;37938771;9771976", "class_list": "", "function": "Acts as a neurotrophic factor in postnatal mature neurons enhancing neuronal survival (PubMed:31536960). Promotes cell proliferation and neurogenesis in undifferentiated neural progenitor cells at the embryonic stage and inhibits differentiation of astrocytes (By similarity). Its neurotrophic activity is exerted via MAPK1/ERK2, MAPK3/ERK1 and AKT1/AKT pathways (By similarity). Neurotrophic activity is enhanced by binding to heme (By similarity). Also acts as an anorexigenic neurotrophic factor that contributes to energy balance (By similarity)., [UniProtKB, UniProtKB, PubMed]; Describes the predicted heme-binding domains in the human neudesin protein sequence., [RefSeq, PubMed]; High NENF expression is associated with liver cancer., [RefSeq, PubMed]; Human neudesin of 172 amino acids with high similarity ( approximately 91% identity) to mouse neudesin was identified; the human neudesin gene was mapped to chromosome 1p33., [RefSeq, PubMed]; In astrocytic brain tumor patients neudesin concentrations within the cerebrospinal fluid are higher compared with non-tumoral individuals. Serum neudesin concentration strongly correlates with its CSF level. In primary brain tumor patients serum neudesin concentration is clearly gender-dependent. Publication Status: Online-Only, [RefSeq, PubMed]; Neudesin: a neuropeptide hormone decreased in subjects with polycystic ovary syndrome., [RefSeq, PubMed]; The level of the neudesin in type-2 diabetic patients and the relationship between the metabolic parameters and carotid intima-media thickness., [RefSeq, PubMed]; This gene encodes a neurotrophic factor that may play a role in neuron differentiation and development. A pseudogene of this gene is found on chromosome 12. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A1KYQ8;Q53FZ6;Q5TM90", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0032099 negative regulation of appetite", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q9UMX5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00624-1", "uniprot_id": [ { "id": "NPT3_HUMAN", "url": "https://www.uniprot.org/uniprot/O00624", "type": "external" } ], "mass": 47277.0, "length": 439, "protein_name": "Sodium-dependent phosphate transport protein 3", "gene_name": "SLC17A2", "organism": "Human", "refseq_name": "sodium-dependent phosphate transport protein 3 isoform a", "refseq_ac": [ { "id": "NP_001273052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052", "type": "external" } ], "gene_names_uniprotkb": "SLC17A2; NPT3", "gene_names_refseq": "NPT3; SLC17A2", "protein_names_uniprotkb": "Sodium-dependent phosphate transport protein 3; Na(+)/PI cotransporter 3; Sodium/phosphate cotransporter 3; Solute carrier family 17 member 2", "protein_names_refseq": "Na(+)/PI cotransporter 3; sodium phosphate transporter 3; sodium-dependent phosphate transport protein 3 isoform a; sodium-dependent phosphate transport protein 3; sodium/phosphate cotransporter 3; solute carrier family 17 (vesicular glutamate transporter), member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10246)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "19890391;26374642;26852655;29497127;31154438;31530632;9149941", "class_list": "", "function": "A novel gout-associated gene, SLC17A2, was identified (OR = 0.83, PFDR = 0.017).The common variant rs2071299 is an expression associated SNP and SLC17A2 mRNA expression is modified by different genotypes of this variant. the mRNA expression and protein levels of SLC17A2 between healthy individuals and hyperuricemia patients were significantly different Publication Status: Online-Only, [RefSeq, PubMed]; Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions (By similarity). Mediates chloride-dependent transport of urate (By similarity). Can actively transport inorganic phosphate into cells via Na(+) cotransport (By similarity)., [UniProtKB, UniProtKB]; Association was detected in premenopausal women of European descent between percent iron saturation and variants in the chromosome 6 region containing both HFE and SLC17A2 genes., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [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": 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": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NK81;A6NLD6;Q5TB84;Q76P85", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015143 urate transmembrane transporter activity;GO:0005436 sodium:phosphate symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0006796 phosphate-containing compound metabolic process;GO:0006814 sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O00624-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60391-1", "uniprot_id": [ { "id": "NMD3B_HUMAN", "url": "https://www.uniprot.org/uniprot/O60391", "type": "external" } ], "mass": 112992.0, "length": 1043, "protein_name": "Glutamate receptor ionotropic, NMDA 3B", "gene_name": "GRIN3B", "organism": "Human", "refseq_name": "glutamate receptor ionotropic, NMDA 3B precursor", "refseq_ac": [ { "id": "NP_619635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635", "type": "external" } ], "gene_names_uniprotkb": "GRIN3B", "gene_names_refseq": "GRIN3B; GluN3B; NR3B", "protein_names_uniprotkb": "Glutamate receptor ionotropic, NMDA 3B; GluN3B; N-methyl-D-aspartate receptor subtype 3B; NMDAR3B; NR3B", "protein_names_refseq": "N-methyl-D-aspartate receptor subtype 3B; NMDA receptor subunit 3B; NMDA type glutamate receptor subunit NR3B; NMDAR3B; glutamate [NMDA] receptor subunit 3B; glutamate receptor ionotropic, NMDA 3B precursor; glutamate receptor ionotropic, NMDA 3B; glutamate receptor, ionotropic, N-methyl-D-aspartate 3B", "tax_id": 9606, "disease": "", "pathway": " (hsa:116444); (R-HSA-9609736)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10.1101/2023.09.13.557529;11717388;11735224;15722182;17543277;17687115;17855605;17997397;22833210;24814139;25576301;25768306;28132660;29557506;30590034;31202607;32387766;34171305;34509645;35051231;36010968;37217939;39894887", "class_list": "", "function": "Authors investigated the significance of a common human genetic variation of the NMDAR NR3B subunit Publication Status: Online-Only, [RefSeq, PubMed]; Component of a non-conventional N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with low calcium permeability and low voltage-dependent block by Mg(2+) (By similarity). Forms glutamatergic receptor complexes with GluN1 and GluN2 subunits which are activated by glycine binding to the GluN1 and GluN3 subunits and L-glutamate binding to GluN2 subunits (By similarity). Forms excitatory glycinergic receptor complexes with GluN1 alone which are activated by glycine binding to the GluN1 and GluN3 subunits. GluN3B subunit also binds D-serine and, in the absence of glycine, activates glycinergic receptor complexes, but with lower efficacy than glycine (By similarity). Each GluN3 subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, Ca2(+) permeability, and binding to allosteric modulators (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Cross-talk between NR3B and NR4A receptors is a mechanism modulating the transcriptional activities of these orphan nuclear receptors, [RefSeq, PubMed]; GRIN3B missense mutation is an inherited risk factor for schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]; NR3B mRNA expression in the human hippocampal formation (CA1-CA4 and dentate gyrus) and adjacent neocortex may have implications for understanding the role of NMDA receptors for physiological and pathological processes in these forebrain regions., [RefSeq, PubMed]; Rs2240158 of GRIN3B was significantly associated with mismatch negativity in healthy subjects., [RefSeq, PubMed]; The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015]., [RefSeq]; We tested whether genetic dysfunction of GRIN3B is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS)., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "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": "Q5EAK7;Q7RTW9", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0030594 neurotransmitter receptor activity;GO:0005261 monoatomic cation channel activity;GO:0016594 glycine binding;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0017146 NMDA selective glutamate receptor complex;GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0042734 presynaptic membrane;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0035235 ionotropic glutamate receptor signaling pathway;GO:0035249 synaptic transmission, glutamatergic;GO:0048167 regulation of synaptic plasticity;GO:0051924 regulation of calcium ion transport;GO:0098655 monoatomic cation transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "O60391-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25103-1", "uniprot_id": [ { "id": "NK1R_HUMAN", "url": "https://www.uniprot.org/uniprot/P25103", "type": "external" } ], "mass": 46251.0, "length": 407, "protein_name": "Substance-P receptor", "gene_name": "TACR1", "organism": "Human", "refseq_name": "substance-P receptor isoform long", "refseq_ac": [ { "id": "NP_001049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001049", "type": "external" } ], "gene_names_uniprotkb": "TACR1; NK1R; TAC1R", "gene_names_refseq": "NK1R; NKIR; SPR; TAC1R; TACR1", "protein_names_uniprotkb": "Substance-P receptor; NK-1 receptor; NK-1R; SPR; Tachykinin receptor 1", "protein_names_refseq": "NK-1 receptor; NK-1R; neurokinin receptor 1; neurokinin-1 receptor); substance-P receptor isoform long; tachykinin receptor 1 (substance P receptor", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); colitis (Disease Ontology:DOID:0060180); exercise-induced bronchoconstriction (Disease Ontology:DOID:0080821); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); cystitis (Disease Ontology:DOID:1679); asthma (Disease Ontology:DOID:2841); allergic rhinitis (Disease Ontology:DOID:4481); pancreatitis (Disease Ontology:DOID:4989); pulmonary hypertension (Disease Ontology:DOID:6432); central sleep apnea (Disease Ontology:DOID:9220)", "pathway": " (hsa:6869); (R-HSA-380095); (R-HSA-416476); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 5, "publication_count": 248, "publication_id_list": "10097102;10191087;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10567430;10613896;10625686;10727532;10766823;10769163;10861009;10866201;10983987;11015615;11071885;11076969;11082044;11231140;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11742120;11753430;11864635;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12120503;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12944396;12952949;12958364;1310144;1312928;1317852;1374246;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15318165;15339664;1535555;15452552;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;15951850;16103228;16159959;16182515;16215232;16268778;16326391;16339447;16410077;16459302;16460808;16516836;1657150;1659396;16707488;16723738;16754659;16798879;16880396;16903783;16923326;17018281;17035995;17158794;1718267;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17561251;17563389;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18388313;18434541;1847920;18515384;18577758;18775314;18790740;18819912;18936096;18981233;1905813;19092055;19140243;19287005;19296720;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20211604;20231386;20351096;20428113;20448150;20826345;20937248;20946875;21102408;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;2173708;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;25880248;26042225;26403691;26829388;2841328;2890644;3086311;31154438;33323464;3417785;35051231;37013432;37408182;37454559;3770210;37968728;39265714;6146630;7569928;7822302;7877694;7937899;8384323;8524399;8552632;8553074;8664309;8837779;9092476;9100026;9169477;9303539;9305846;9427626;9428629;9635431;9723620;9736607;9770463;9812899", "class_list": "", "function": "Alpha Calcitonin Gene-related Peptide, Neuropeptide Y, and Substance P as Biomarkers for Diagnosis and Disease Activity and Severity in Multiple Sclerosis., [RefSeq, PubMed]; Association of genetic variants in CYP3A5, DRD2 and NK1R with opioid overdose., [RefSeq, PubMed]; Involvement of Substance P (SP) and Its Related NK1 Receptor in Primary Sjogren's Syndrome (pSS) Pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for the tachykinin substance P, also able to bind and respond to tachynins neurokinin A/substance K and neurokinin B/neuromedin-K (PubMed:1718267, PubMed:15452552). The rank order of affinity of this receptor to tachykinins is: substance P > neurokinin A/substance K > neurokinin B/neuromedin-K (PubMed:1718267). Substance P binding to its receptor triggers G protein-coupled receptor signaling via activation of phosphatidylinositol hydrolysis by phospholipase C. Substance P binding also triggers signaling via activation of adenylate cyclase activity which results in increased intracellular levels of cyclic AMP (cAMP) (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; TNF-alpha evokes blood-brain barrier dysfunction through activation of Rho-kinase and neurokinin 1 receptor., [RefSeq, PubMed]; This gene belongs to a gene family of tachykinin receptors. These tachykinin receptors are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. The encoded protein is also involved in the mediation of phosphatidylinositol metabolism of substance P. [provided by RefSeq, Sep 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K150", "ec_number_list": [], "go_molecular_function": "GO:0004995 tachykinin receptor activity;GO:0016496 substance P receptor activity", "go_cellular_component": "GO:0061827 sperm head;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030425 dendrite", "go_biological_process": "GO:0032224 positive regulation of synaptic transmission, cholinergic;GO:0035106 operant conditioning;GO:0006954 inflammatory response;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 25.1, "record_id": "P25103-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100001000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29371-1", "uniprot_id": [ { "id": "NK3R_HUMAN", "url": "https://www.uniprot.org/uniprot/P29371", "type": "external" } ], "mass": 52202.0, "length": 465, "protein_name": "Neuromedin-K receptor", "gene_name": "TACR3", "organism": "Human", "refseq_name": "neuromedin-K receptor", "refseq_ac": [ { "id": "NP_001050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001050", "type": "external" } ], "gene_names_uniprotkb": "TACR3; NK3R; TAC3R", "gene_names_refseq": "HH11; NK-3R; NK3R; NK3; NKR; TAC3RL; TAC3R; TACR3", "protein_names_uniprotkb": "Neuromedin-K receptor; NK-3 receptor; NK-3R; NKR; Neurokinin B receptor; Tachykinin receptor 3", "protein_names_refseq": "NK-3 receptor; NK3 receptor; neurokinin B receptor; neurokinin beta receptor; neuromedin-K receptor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); hypogonadotropic hypogonadism 11 with or without anosmia (Disease Ontology:DOID:0090071); hypertension (Disease Ontology:DOID:10763); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:6870); (R-HSA-380095); (R-HSA-416476)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "10191087;10567430;10727532;10861009;10866201;11015615;11742120;11753430;12120503;1312036;1312928;1374246;15951850;16182515;16268778;16339447;16754659;16923326;1718267;17561251;18434541;18515384;18577758;18936096;1905813;19079066;2173708;23643382;25077900;27397612;2841328;30390321;3086311;32067964;35494241;36453600;37391393;3770210;37968728;7937899;8664309;9305846;9770463", "class_list": "", "function": "Identified a newly discovered stopgain mutation in tachykinin receptor 3 (TACR3) in nonobstructive azoospermia paitents., [RefSeq, PubMed]; Neurokinin receptors in drug and alcohol addiction. Review article, [RefSeq, PubMed]; Receptor for the tachykinin neuromedin-K (neurokinin B), also able to bind and respond to tachynins substance K/neurokinin A and substance P (PubMed:1312036, PubMed:37391393). The rank order of affinity of this receptor to tachykinins is: neuromedin-K > substance K and substance P (PubMed:1312036). Neuromedin-K binding to its receptor triggers G protein-coupled receptor signaling via activation of G(q) and phosphatidylinositol hydrolysis by phospholipase C (PubMed:37391393). Neuromedin-K binding also triggers signaling via activation of adenylate cyclase activity which results in increased intracellular levels of cyclic AMP (cAMP) (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; The overexpression of neurokinin B-neurokinin 3 receptor system exerts direct effects on the ovary under PCOS-like conditions to interfere with mitochondrial function., [RefSeq, PubMed]; This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q0P510", "ec_number_list": [], "go_molecular_function": "GO:0004995 tachykinin receptor activity;GO:0016498 neuromedin K receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043679 axon terminus;GO:0032809 neuronal cell body membrane;GO:0044327 dendritic spine head;GO:0097225 sperm midpiece", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0045777 positive regulation of blood pressure;GO:0010460 positive regulation of heart rate;GO:0032355 response to estradiol;GO:0042220 response to cocaine", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P29371-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78367-1", "uniprot_id": [ { "id": "NKX32_HUMAN", "url": "https://www.uniprot.org/uniprot/P78367", "type": "external" } ], "mass": 34814.0, "length": 333, "protein_name": "Homeobox protein Nkx-3.2", "gene_name": "NKX3-2", "organism": "Human", "refseq_name": "homeobox protein Nkx-3.2", "refseq_ac": [ { "id": "NP_001180", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180", "type": "external" } ], "gene_names_uniprotkb": "NKX3-2; BAPX1; NKX3B", "gene_names_refseq": "BAPX1; NKX3-2; NKX3.2; NKX3B; SMMD", "protein_names_uniprotkb": "Homeobox protein Nkx-3.2; Bagpipe homeobox protein homolog 1; Homeobox protein NK-3 homolog B", "protein_names_refseq": "bagpipe homeobox protein homolog 1; homeobox protein NK-3 homolog B; homeobox protein Nkx-3.2", "tax_id": 9606, "disease": "spondylo-megaepiphyseal-metaphyseal dysplasia (MONDO:MONDO:0013228)", "pathway": " (hsa:579); (R-HSA-8939902)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10215629;10572046;10911365;12000792;12738770;12923053;15024065;15703179;16115867;16421188;16728642;17786208;18541707;20004766;21931630;22422618;23403054;23943595;25260729;26091038;26778333;29704686;29746601;33968037;35139106;9256352;9344671;9426254", "class_list": "", "function": "A novel NKX3-2 mutation causes perinatal lethal spondylo-megaepiphyseal-metaphyseal dysplasia., [RefSeq, PubMed]; BMP7 increases protein synthesis in SW1353 cells and determines rRNA levels in a NKX3-2-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that Meox1 activates the Bapx1 promoter in a dose-dependent manner and that this activity is enhanced in the presence of Pax1 and/or Pax9., [RefSeq, PubMed]; NKL homeobox gene NKX2-5 was activated by NKX3-2 in CCRF-CEM and by FOXG1 in PEER, representing mutually inhibitory activators of this translocated oncogene. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus (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": "Q2M2I7", "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_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0001501 skeletal system development;GO:0006366 transcription by RNA polymerase II;GO:0032331 negative regulation of chondrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P78367-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15761-1", "uniprot_id": [ { "id": "NPY5R_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15761", "type": "external" } ], "mass": 50727.0, "length": 445, "protein_name": "Neuropeptide Y receptor type 5", "gene_name": "NPY5R", "organism": "Human", "refseq_name": "neuropeptide Y receptor type 5", "refseq_ac": [ { "id": "NP_001304020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304020", "type": "external" } ], "gene_names_uniprotkb": "NPY5R; NPYR5", "gene_names_refseq": "NPY5-R; NPY5R; NPYR5; NPYY5-R", "protein_names_uniprotkb": "Neuropeptide Y receptor type 5; NPY-Y5 receptor; NPY5-R; NPYY5-R; Y5 receptor", "protein_names_refseq": "NPY-Y5 receptor; Y5 receptor; neuropeptide Y receptor type 5", "tax_id": 9606, "disease": "peripheral artery disease (Disease Ontology:DOID:0050830); absence epilepsy (Disease Ontology:DOID:0070309); alcohol use disorder (Disease Ontology:DOID:1574); hyperinsulinism (Disease Ontology:DOID:2018); lipid metabolism disorder (Disease Ontology:DOID:3146); coronary restenosis (Disease Ontology:DOID:4247); prolactinoma (Disease Ontology:DOID:5394); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:4889); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 115, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;23446738;23690594;24906252;25132261;2534964;2649896;2748346;27496565;2834384;29557506;29763369;31999643;3202875;3366244;35093384;3525564;35580925;35660638;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8700207;8702752;873923;8823230;8824284;9169127;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Expression of hypoxia inducible factor-dependent neuropeptide Y receptors Y1 and Y5 sensitizes hypoxic cells to NPY stimulation., [RefSeq, PubMed]; Molecular crosstalk between Y5 receptor and neuropeptide Y drives liver cancer., [RefSeq, PubMed]; NPY5R is an inducible pro-survival factor that is responsible for chemoresistance in neuroblastoma cells., [RefSeq, PubMed]; Neuropeptide Y promotes hepatic apolipoprotein A1 synthesis and secretion through neuropeptide Y Y5 receptor., [RefSeq, PubMed]; Receptor for neuropeptide Y and peptide YY. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity. Seems to be associated with food intake. Could be involved in feeding disorders., [UniProtKB]; The protein encoded by this gene is a receptor for neuropeptide Y and peptide YY. The encoded protein appears to be involved in regulating food intake, with defects in this gene being associated with eating disorders. Also, the encoded protein is involved in a pathway that protects neuroblastoma cells from chemotherapy-induced cell death, providing a possible therapeutic target against neuroblastoma. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015]., [RefSeq]; Y1R and Y5R might be the dominant receptors that mediate the effect of NPY-induced fat accumulation in both subcutaneous and visceral adipose tissues. Y1R and Y5R in visceral adipose tissue might be targets of drug development in prevention or treatment of obesity., [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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6GTR7;Q92916", "ec_number_list": [], "go_molecular_function": "GO:0004983 neuropeptide Y receptor activity;GO:0001601 peptide YY receptor activity;GO:0001602 pancreatic polypeptide receptor activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0043005 neuron projection;GO:0098793 presynapse;GO:0097731 9+0 non-motile cilium", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0043066 negative regulation of apoptotic process;GO:0045471 response to ethanol;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q15761-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTR0-1", "uniprot_id": [ { "id": "NLRP9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTR0", "type": "external" } ], "mass": 113312.0, "length": 991, "protein_name": "NACHT, LRR and PYD domains-containing protein 9", "gene_name": "NLRP9", "organism": "Human", "refseq_name": "NACHT, LRR and PYD domains-containing protein 9", "refseq_ac": [ { "id": "NP_789790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789790", "type": "external" } ], "gene_names_uniprotkb": "NLRP9; NALP9; NOD6; PAN12", "gene_names_refseq": "CLR19.1; NALP9; NLRP9; NOD6; PAN12", "protein_names_uniprotkb": "NACHT, LRR and PYD domains-containing protein 9; Nucleotide-binding oligomerization domain protein 6; PYRIN and NACHT-containing protein 12", "protein_names_refseq": "NACHT, LRR and PYD containing protein 9; NACHT, LRR and PYD domains-containing protein 9; NACHT, leucine rich repeat and PYD containing 9; PYRIN and NACHT-containing protein 12; nucleotide-binding oligomerization domain protein 6; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:338321)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "12563287;12766759;16959974;19615748;20403135;24715725;28432035;28636595;29557506;30217166;32399794;32542665;32542766;34257569;35051231", "class_list": "", "function": "As the sensor component of the NLRP9 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens, including rotavirus, initiates the formation of the inflammasome polymeric complex, made of NLRP9, PYCARD and CASP1. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and release in the extracellular milieu. The active cytokines stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death. NLRP9 inflammasome activation may be initiated by DHX9 interaction with viral double-stranded RNA (dsRNA), preferentially to short dsRNA segments., [UniProtKB, PubMed]; Crystal structure of the human NLRP9 pyrin domain reveals a bent N-terminal loop that may regulate inflammasome assembly., [RefSeq, PubMed]; Crystal structure of the human NLRP9 pyrin domain suggests a distinct mode of inflammasome assembly., [RefSeq, PubMed]; Maternally contributed Nlrp9b expressed in human and mouse ovarian follicles contributes to early murine preimplantation development., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Somatic Mutation of NLRP Genes in Gastric and Colonic Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; The Genetic variants located in NLRP9 have the potential to modulate disease course in MS patients and may be used as disease activity biomarkers to identify patients with divergent disease courses. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RN12;Q86W27", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0061702 canonical inflammasome complex", "go_biological_process": "GO:0032741 positive regulation of interleukin-18 production;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0050727 regulation of inflammatory response;GO:0070269 pyroptotic inflammatory response", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q7RTR0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C002-1", "uniprot_id": [ { "id": "CX4L3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C002", "type": "external" } ], "mass": 9617.0, "length": 83, "protein_name": "Cytochrome c oxidase associated subunit FA4L3", "gene_name": "COXFA4L3", "organism": "Human", "refseq_name": "cytochrome c oxidase associated subunit FA4L3", "refseq_ac": [ { "id": "NP_115789", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115789", "type": "external" } ], "gene_names_uniprotkb": "COXFA4L3; C15orf48; MOCCI; NMES1", "gene_names_refseq": "C15orf48; COXFA4L3; FOAP-11; MIR147BHG; MISTRAV; MOCCI; NMES1", "protein_names_uniprotkb": "Cytochrome c oxidase associated subunit FA4L3; MOCCI; Modulator of cytochrome C oxidase during inflammation protein; NMES1; Normal mucosa of esophagus-specific gene 1 protein; Protein FOAP-11", "protein_names_refseq": "MIR147B host; cytochrome c oxidase associated subunit FA4L3; cytochrome c oxidase subunit FA4 like 3; mitochondrial stress response antiviral; modulator of cytochrome C oxidase during inflammation protein; modulator of cytochrome C oxidase during inflammation; normal mucosa of esophagus specific 1; normal mucosa of esophagus-specific gene 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84419)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1038/emboj.2013.79;12209954;20877624;23584533;27452731;29557506;29789417;30833945;32983136;33043033;33837217;33912179;34878835;38296961", "class_list": "", "function": "Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial small peptide that orchestrates a two-pronged immunoregulatory mechanism in response to inflammatory stimuli. Replaces the canonical cytochrome c oxidase subunit COXFA4 in mitochondrial complex IV and targets it to degradation, attenuating mitochondrial respiration, reducing membrane potential as well as ROS generation and modulates innate immune signaling (PubMed:33837217, PubMed:34878835). Additionally, initiates stress-independent autophagy by lowering ATP levels, activating AMPK-ULK1 signaling, boosting glutathione production, and thereby mitigating oxidative stress and supporting immune tolerance (PubMed:38296961)., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The negative correlation of NMES1 expression with esophageal oncogenesis suggests its suppressive role in tumorigenesis of the esophagus, while the precise function of NMES1 still needs further investigation., [RefSeq, PubMed]; This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [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": 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": 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": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9C002-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCQ7-1", "uniprot_id": [ { "id": "NPVF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCQ7", "type": "external" } ], "mass": 22327.0, "length": 196, "protein_name": "Pro-FMRFamide-related neuropeptide VF", "gene_name": "NPVF", "organism": "Human", "refseq_name": "pro-FMRFamide-related neuropeptide VF precursor", "refseq_ac": [ { "id": "NP_071433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071433", "type": "external" } ], "gene_names_uniprotkb": "NPVF; C7orf9; RFRP", "gene_names_refseq": "C7orf9; NPVF; RFRP", "protein_names_uniprotkb": "Pro-FMRFamide-related neuropeptide VF; Neuropeptide RFRP-3", "protein_names_refseq": "FMRFamide-related peptides; RFamide-related peptide; neuropeptide NPVF; pro-FMRFamide-related neuropeptide VF precursor; pro-FMRFamide-related neuropeptide VF", "tax_id": 9606, "disease": "", "pathway": " (hsa:64111)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11025660;11481330;11951088;20027225;25180599;34534716", "class_list": "", "function": "Efficiently inhibits forskolin-induced production of cAMP. Acts as a potent negative regulator of gonadotropin synthesis and secretion (PubMed:11025660, PubMed:20027225). Induces secretion of prolactin (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Efficiently inhibits forskolin-induced production of cAMP. Blocks morphine-induced analgesia., [UniProtKB, PubMed, PubMed]; GnIH homologs in the human hypothalamus and were identified and human GnIH receptor (GPR147) mRNA expression in the hypothalamus as well as in the pituitary, was characterized. Publication Status: Online-Only, [RefSeq, PubMed]; RFRP-3/GPR147 may play secondary, modulatory roles on the regulation of pubertal development; a restraining modulatory effect of the NPVF p.I71_K72 variant on the activation of the gonadotrophic axis cannot be ruled out, [RefSeq, PubMed]; Shows no inhibitory activity of forskolin-induced production of cAMP., [UniProtKB, PubMed]; The distribution of Neuropeptide FF and Neuropeptide VF in central and peripheral tissues and their role in energy homeostasis control. 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D164;Q7LE27;Q96PI9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0160041 neuropeptide activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0007218 neuropeptide signaling pathway;GO:0032277 negative regulation of gonadotropin secretion", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9HCQ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2C8-1", "uniprot_id": [ { "id": "O51V1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2C8", "type": "external" } ], "mass": 36749.0, "length": 321, "protein_name": "Olfactory receptor 51V1", "gene_name": "OR51V1", "organism": "Human", "refseq_name": "olfactory receptor 51V1", "refseq_ac": [ { "id": "NP_001004760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004760", "type": "external" } ], "gene_names_uniprotkb": "OR51V1; OR51A12", "gene_names_refseq": "OR11-36; OR51A12; OR51V1", "protein_names_uniprotkb": "Olfactory receptor 51V1; Odorant receptor HOR3'beta1; Olfactory receptor 51A12; Olfactory receptor OR11-36", "protein_names_refseq": "odorant receptor HOR3'beta1; olfactory receptor 51A12; olfactory receptor 51V1; olfactory receptor OR11-36", "tax_id": 9606, "disease": "", "pathway": " (hsa:283111); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11121057;11237011;14983052;24800820;26282398;27515280;31974307;32066986;35494241", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell;GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9H2C8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGC0-1", "uniprot_id": [ { "id": "O5AU1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGC0", "type": "external" } ], "mass": 40658.0, "length": 362, "protein_name": "Olfactory receptor 5AU1", "gene_name": "OR5AU1", "organism": "Human", "refseq_name": "olfactory receptor 5AU1", "refseq_ac": [ { "id": "NP_001004731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004731", "type": "external" } ], "gene_names_uniprotkb": "OR5AU1", "gene_names_refseq": "OR14-38; OR5AU1", "protein_names_uniprotkb": "Olfactory receptor 5AU1; Olfactory receptor OR14-38", "protein_names_refseq": "olfactory receptor 5AU1; olfactory receptor OR14-38", "tax_id": 9606, "disease": "", "pathway": " (hsa:390445); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RP78;Q6IEU2;Q96R10", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGC0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGH5-1", "uniprot_id": [ { "id": "O56A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGH5", "type": "external" } ], "mass": 35823.0, "length": 318, "protein_name": "Olfactory receptor 56A1", "gene_name": "OR56A1", "organism": "Human", "refseq_name": "olfactory receptor 56A1", "refseq_ac": [ { "id": "NP_001001917", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001917", "type": "external" } ], "gene_names_uniprotkb": "OR56A1", "gene_names_refseq": "OR11-75; OR56A1", "protein_names_uniprotkb": "Olfactory receptor 56A1; Olfactory receptor OR11-75", "protein_names_refseq": "olfactory receptor 56A1; olfactory receptor OR11-75", "tax_id": 9606, "disease": "", "pathway": " (hsa:120796); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RNI2;Q6IFL0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGH5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NIJ9-1", "uniprot_id": [ { "id": "O6C70_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NIJ9", "type": "external" } ], "mass": 35468.0, "length": 312, "protein_name": "Olfactory receptor 6C70", "gene_name": "OR6C70", "organism": "Human", "refseq_name": "olfactory receptor 6C70", "refseq_ac": [ { "id": "NP_001005499", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005499", "type": "external" } ], "gene_names_uniprotkb": "OR6C70", "gene_names_refseq": "OR6C70", "protein_names_uniprotkb": "Olfactory receptor 6C70", "protein_names_refseq": "olfactory receptor 6C70", "tax_id": 9606, "disease": "", "pathway": " (hsa:390327); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "24800820;27515280;31974307;32066986;33392160;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A6NIJ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NL08-1", "uniprot_id": [ { "id": "O6C75_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NL08", "type": "external" } ], "mass": 35372.0, "length": 312, "protein_name": "Olfactory receptor 6C75", "gene_name": "OR6C75", "organism": "Human", "refseq_name": "olfactory receptor 6C75", "refseq_ac": [ { "id": "NP_001005497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005497", "type": "external" } ], "gene_names_uniprotkb": "OR6C75", "gene_names_refseq": "OR6C75", "protein_names_uniprotkb": "Olfactory receptor 6C75", "protein_names_refseq": "olfactory receptor 6C75", "tax_id": 9606, "disease": "", "pathway": " (hsa:390323); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "24800820;27515280;30484775;31974307;32066986;36215666;38253038", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A6NL08-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCB6-1", "uniprot_id": [ { "id": "O51E1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCB6", "type": "external" } ], "mass": 35402.0, "length": 318, "protein_name": "Olfactory receptor 51E1", "gene_name": "OR51E1", "organism": "Human", "refseq_name": "olfactory receptor 51E1", "refseq_ac": [ { "id": "NP_689643", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689643", "type": "external" } ], "gene_names_uniprotkb": "OR51E1; GPR164; OR51E1P; OR52A3P; POGR; PSGR2", "gene_names_refseq": "D-GPCR; DGPCR; GPR136; GPR164; OR51E1P; OR51E1; OR52A3P; POGR; PSGR2", "protein_names_uniprotkb": "Olfactory receptor 51E1; D-GPCR; G protein-coupled receptor 164; Olfactory receptor 52A3; Prostate-overexpressed G protein-coupled receptor; Prostate-specific G protein-coupled receptor 2", "protein_names_refseq": "Dresden-G-protein-coupled receptor; G-protein coupled receptor 164; olfactory receptor 51E1; olfactory receptor 52A3; olfactory receptor OR11-15; olfactory receptor, family 51, subfamily E, member 1 pseudogene; olfactory receptor, family 52, subfamily A, member 3 pseudogene; prostate overexpressed G protein-coupled receptor; prostate-specific G protein-coupled receptor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:143503); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 29, "publication_id_list": "10460249;11237011;12732197;14983052;15313197;15598656;16206286;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27374083;27515280;27916747;27916748;28116519;28656349;29235485;31040214;31974307;32066986;33640452;37207826", "class_list": "", "function": "Ectopically expressed olfactory receptors OR51E1 and OR51E2 suppress proliferation and promote cell death in a prostate cancer cell line., [RefSeq, PubMed]; Effect of OR51E1 single nucleotide polymorphisms on glioma susceptibility in the Chinese Han population., [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; Results suggest that PSGR2 may be useful as a tissue marker and molecular target for the early detection and treatment of human prostate cancers., [RefSeq, PubMed]; Results suggest the involvement of OR51E1 in growth processes of PCa cells and its impact on AR-mediated signaling. These findings provide novel evidences to support the functional importance of ORs in PCa pathogenesis., [RefSeq, PubMed]; These findings indicate that OR51E1 may play a role as metabolic regulator of cardiac function, [RefSeq, PubMed]; This publication uses 'GPR136' as a name for this gene., [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": 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": "A8KAM6;Q5S4P5;Q66X57;Q6IF93", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8TCB6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "F8W1W9-1", "uniprot_id": [ { "id": "NPIB9_HUMAN", "url": "https://www.uniprot.org/uniprot/F8W1W9", "type": "external" } ], "mass": 49734.0, "length": 432, "protein_name": "Nuclear pore complex-interacting protein family member B9", "gene_name": "NPIPB9", "organism": "Human", "refseq_name": "nuclear pore complex-interacting protein family member B9", "refseq_ac": [ { "id": "NP_001274179", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274179", "type": "external" } ], "gene_names_uniprotkb": "NPIPB9", "gene_names_refseq": "NPIPB9", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member B9", "protein_names_refseq": "nuclear pore complex-interacting protein family member B9", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507607)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "F8VUA1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "F8W1W9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60356-1", "uniprot_id": [ { "id": "NUPR1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60356", "type": "external" } ], "mass": 8873.0, "length": 82, "protein_name": "Nuclear protein 1", "gene_name": "NUPR1", "organism": "Human", "refseq_name": "nuclear protein 1 isoform a", "refseq_ac": [ { "id": "NP_001035948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035948", "type": "external" } ], "gene_names_uniprotkb": "NUPR1; COM1", "gene_names_refseq": "COM1; NUPR1; P8", "protein_names_uniprotkb": "Nuclear protein 1; Candidate of metastasis 1; Protein p8", "protein_names_refseq": "candidate of metastasis 1; nuclear protein 1 isoform a; nuclear protein, transcriptional regulator, 1; nuclear transcriptional regulator protein 1; protein p8", "tax_id": 9606, "disease": "Sertoli cell-only syndrome (Disease Ontology:DOID:0050457)", "pathway": " (hsa:26471)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10092851;10493524;11056169;11237011;11940591;16300740;16341674;16478804;18690848;19650074;19723804;20181828;22565310;22858377;25576301;25645385;27451286;27600516;27846572;27862975;28720707;29557506;29786170;29789417;30429286;30451898;31154438;31844290;31848261;32157095;32933064;32938616;32983136;33592498;34030133;35051231;35580925;36284347;37566478;37807730;37879429;38653091;39366174", "class_list": "", "function": "MED23 depletion induces premature senescence in NSCLC cells by interacting with BCLAF1 and then suppressing NUPR1 expression., [RefSeq, PubMed]; NUPR1 induces autophagy and promotes the progression of Esophageal squamous cell carcinoma via the MAPK-mTOR pathway., [RefSeq, PubMed]; Nuclear protein-1 is the common link for pathways activated by aging and obesity in chondrocytes: A potential therapeutic target for osteoarthritis., [RefSeq, PubMed]; SETD4 inhibits prostate cancer development by promoting H3K27me3-mediated NUPR1 transcriptional repression and cell cycle arrest., [RefSeq, PubMed]; Transcription regulator that converts stress signals into a program of gene expression that empowers cells with resistance to the stress induced by a change in their microenvironment. Thereby participates in the regulation of many processes namely cell-cycle, apoptosis, autophagy and DNA repair responses (PubMed:11056169, PubMed:11940591, PubMed:16300740, PubMed:16478804, PubMed:18690848, PubMed:19650074, PubMed:19723804, PubMed:20181828, PubMed:22565310, PubMed:22858377, PubMed:30451898). Controls cell cycle progression and protects cells from genotoxic stress induced by doxorubicin through the complex formation with TP53 and EP300 that binds CDKN1A promoter leading to transcriptional induction of CDKN1A (PubMed:18690848). Protects pancreatic cancer cells from stress-induced cell death by binding the RELB promoter and activating its transcription, leading to IER3 transactivation (PubMed:22565310). Negatively regulates apoptosis through interaction with PTMA (PubMed:16478804). Inhibits autophagy-induced apoptosis in cardiac cells through FOXO3 interaction, inducing cytoplasmic translocation of FOXO3 thereby preventing the FOXO3 association with the pro-autophagic BNIP3 promoter (PubMed:20181828). Inhibits cell growth and facilitates programmed cell death by apoptosis after adriamycin-induced DNA damage through transactivation of TP53 (By similarity). Regulates methamphetamine-induced apoptosis and autophagy through DDIT3-mediated endoplasmic reticulum stress pathway (By similarity). Participates in DNA repair following gamma-irradiation by facilitating DNA access of the transcription machinery through interaction with MSL1 leading to inhibition of histone H4' Lys-16' acetylation (H4K16ac) (PubMed:19650074). Coactivator of PAX2 transcription factor activity, both by recruiting EP300 to increase PAX2 transcription factor activity and by binding PAXIP1 to suppress PAXIP1-induced inhibition on PAX2 (PubMed:11940591). Positively regulates cell cycle progression through interaction with COPS5 inducing cytoplasmic translocation of CDKN1B leading to the CDKN1B degradation (PubMed:16300740). Coordinates, through its interaction with EP300, the association of MYOD1, EP300 and DDX5 to the MYOG promoter, leading to inhibition of cell-cycle progression and myogenic differentiation promotion (PubMed:19723804). Negatively regulates beta cell proliferation via inhibition of cell-cycle regulatory genes expression through the suppression of their promoter activities (By similarity). Also required for LHB expression and ovarian maturation (By similarity). Exacerbates CNS inflammation and demyelination upon cuprizone treatment (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; [Mechanism of nuclear protein 1 in the resistance to axitinib in clear cell renal cell carcinoma]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5C4;O60357;Q6FGG3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0010698 acetyltransferase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0032993 protein-DNA complex", "go_biological_process": "GO:1902902 negative regulation of autophagosome assembly;GO:1904036 negative regulation of epithelial cell apoptotic process;GO:1904691 negative regulation of type B pancreatic cell proliferation;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "O60356-1", "record_type": "protein", "filter_code": "0001000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95156-1", "uniprot_id": [ { "id": "NXPH2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95156", "type": "external" } ], "mass": 29938.0, "length": 264, "protein_name": "Neurexophilin-2", "gene_name": "NXPH2", "organism": "Human", "refseq_name": "neurexophilin-2 precursor", "refseq_ac": [ { "id": "NP_009157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009157", "type": "external" } ], "gene_names_uniprotkb": "NXPH2; NPH2", "gene_names_refseq": "NPH2; NXPH2", "protein_names_uniprotkb": "Neurexophilin-2", "protein_names_refseq": "neurexophilin-2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:11249)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "18491316;27817196;31848261;9570794", "class_list": "", "function": "Expression inversely correlated with N stage in pancreatic ductal adenocarcinoma, [RefSeq, PubMed]; May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors., [UniProtKB]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B7WP24;Q494R1;Q75QC3", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007218 neuropeptide signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "O95156-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03901-1", "uniprot_id": [ { "id": "NU4LM_HUMAN", "url": "https://www.uniprot.org/uniprot/P03901", "type": "external" } ], "mass": 10741.0, "length": 98, "protein_name": "NADH-ubiquinone oxidoreductase chain 4L", "gene_name": "MT-ND4L", "organism": "Human", "refseq_name": "NADH dehydrogenase subunit 4L", "refseq_ac": [ { "id": "YP_003024034", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024034", "type": "external" } ], "gene_names_uniprotkb": "MT-ND4L; MTND4L; NADH4L; ND4L", "gene_names_refseq": "MTND4L; ND4L", "protein_names_uniprotkb": "NADH-ubiquinone oxidoreductase chain 4L; 7.1.1.2; NADH dehydrogenase subunit 4L; ND4L", "protein_names_refseq": "NADH dehydrogenase subunit 4L", "tax_id": 9606, "disease": "Leber hereditary optic neuropathy (Disease Ontology:DOID:705); diabetes mellitus (Disease Ontology:DOID:9351)", "pathway": " (hsa:4539); (R-HSA-5419276)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "11130070;12840039;12949126;14760490;1757091;17803939;18429816;18782833;19716793;20186120;22172991;24715725;25233460;28844695;28904123;32502341;32938616;33141586;33298915;33968037;33981976;34087483;34171305;34357683;36010968;36241641;36302763;36596788;37141370;3921850;7219534;7530363;8680405;8919866;9806551", "class_list": "", "function": "Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:28844695). Part of the enzyme membrane arm which is embedded in the lipid bilayer and involved in proton translocation (PubMed:28844695)., [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "7.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.9", "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:0008137 NADH dehydrogenase (ubiquinone) activity;GO:0016651 oxidoreductase activity, acting on NAD(P)H", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P03901-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03915-1", "uniprot_id": [ { "id": "NU5M_HUMAN", "url": "https://www.uniprot.org/uniprot/P03915", "type": "external" } ], "mass": 67027.0, "length": 603, "protein_name": "NADH-ubiquinone oxidoreductase chain 5", "gene_name": "MT-ND5", "organism": "Human", "refseq_name": "NADH dehydrogenase subunit 5", "refseq_ac": [ { "id": "YP_003024036", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024036", "type": "external" } ], "gene_names_uniprotkb": "MT-ND5; MTND5; NADH5; ND5", "gene_names_refseq": "MTND5; ND5", "protein_names_uniprotkb": "NADH-ubiquinone oxidoreductase chain 5; 7.1.1.2; NADH dehydrogenase subunit 5", "protein_names_refseq": "NADH dehydrogenase subunit 5", "tax_id": 9606, "disease": "Leigh disease (Disease Ontology:DOID:3652); MELAS syndrome (Disease Ontology:DOID:3687); hepatocellular carcinoma (Disease Ontology:DOID:684); Leber hereditary optic neuropathy (Disease Ontology:DOID:705)", "pathway": " (hsa:4540); (R-HSA-5419276); (R-HSA-611105); (R-HSA-6799198); (R-HSA-9837999)", "pathway_count": 5, "publication_count": 135, "publication_id_list": "10327278;11130070;11220739;11553319;11695836;11923310;11938446;12198491;12231006;12509858;12611891;12796552;12837546;12840039;12949126;1327877;14623864;14741580;14760490;15250827;15522782;15767514;15870080;16115876;16230336;16240359;17033964;17101804;17297443;1732158;17400793;1757091;17579211;17803939;17936786;18429816;186667;18782833;1900003;19716793;19752196;19841671;20186120;20406883;20552642;20818383;20858599;21924235;22172991;22262461;22710082;23150584;23201127;23270816;23553477;23564345;23747254;23931759;239860;24191001;24315374;24520911;25233460;25564869;25576301;25678554;25880248;26154972;26504172;26923599;26992070;27496948;27499296;27626371;27642048;28377575;28396416;28904123;29301859;29557506;29932645;30120231;30429286;31327635;31666358;31695197;31866046;32157095;32320651;32488085;32502341;32897882;32938616;32983136;33141586;33257573;33298915;33592498;33879611;33882309;33912179;33936100;33968037;33981976;34087483;34171305;34704252;34725712;34932366;34943861;35051231;35318648;35333655;35580925;35614220;35870450;36010968;36241641;36284347;36302763;36596788;36629048;37141370;38199007;3921850;4288886;6284948;7219534;7530363;7623837;8213825;9299505;9461455;9571201;9878551", "class_list": "", "function": "Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:15250827). Essential for the catalytic activity and assembly of complex I (PubMed:15250827)., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q34773;Q8WCY3", "ec_number_list": [ { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "7.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.9", "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" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "2.1.1.320", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.320", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "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:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0001666 response to hypoxia;GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0042542 response to hydrogen peroxide;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "P03915-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03923-1", "uniprot_id": [ { "id": "NU6M_HUMAN", "url": "https://www.uniprot.org/uniprot/P03923", "type": "external" } ], "mass": 18622.0, "length": 174, "protein_name": "NADH-ubiquinone oxidoreductase chain 6", "gene_name": "MT-ND6", "organism": "Human", "refseq_name": "NADH dehydrogenase subunit 6", "refseq_ac": [ { "id": "YP_003024037", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024037", "type": "external" } ], "gene_names_uniprotkb": "MT-ND6; MTND6; NADH6; ND6", "gene_names_refseq": "MTND6; ND6", "protein_names_uniprotkb": "NADH-ubiquinone oxidoreductase chain 6; 7.1.1.2; NADH dehydrogenase subunit 6", "protein_names_refseq": "NADH dehydrogenase subunit 6", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); spinal muscular atrophy with lower extremity predominant 2B (Disease Ontology:DOID:0070350); Leber hereditary optic neuropathy and dystonia (Disease Ontology:DOID:0111755); lactic acidosis (Disease Ontology:DOID:3650); Leigh disease (Disease Ontology:DOID:3652); MELAS syndrome (Disease Ontology:DOID:3687); Leber hereditary optic neuropathy (Disease Ontology:DOID:705)", "pathway": " (hsa:4541); (R-HSA-5419276); (R-HSA-611105); (R-HSA-6799198); (R-HSA-9837999)", "pathway_count": 5, "publication_count": 122, "publication_id_list": "10327278;10447650;11130070;11133798;11220739;11695836;11781695;11923310;12198491;12231006;12837546;12840039;12949126;1327877;1417830;14595656;14623864;14741580;14760490;15250827;15522782;15870080;16115876;16230336;17033964;17101804;17297443;1757091;17579211;17803939;17936786;18429816;186667;18782833;19716793;19752196;19841671;20186120;20406883;2043137;20552642;20858599;21924235;22172991;22262461;22710082;23150584;23201127;23270816;23553477;23564345;23747254;23931759;239860;24191001;24315374;24520911;25233460;25564869;25576301;25678554;26504172;26923599;27496948;27499296;27626371;27642048;27846572;28377575;28396416;28904123;29301859;29932645;30120231;30429286;30484775;31327635;31666358;31695197;31866046;32157095;32320651;32387766;32488085;32502341;32938616;33141586;33257573;33298915;33879611;33882309;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34704252;34943861;35333655;35567411;35580925;35614220;35870450;36215666;36241641;36302763;36596788;36629048;37141370;38199007;4288886;7219534;7530363;7623837;8016139;8644732;8854108;9452107;9571201;9878551", "class_list": "", "function": "Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:14595656, PubMed:8644732). Essential for the catalytic activity and assembly of complex I (PubMed:14595656, PubMed:8644732)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q34774;Q8HG30", "ec_number_list": [ { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "7.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.9", "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" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "2.1.1.320", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.320", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "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:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P03923-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C646-1", "uniprot_id": [ { "id": "O52Z1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C646", "type": "external" } ], "mass": 33382.0, "length": 298, "protein_name": "Olfactory receptor 52Z1P", "gene_name": "OR52Z1P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR52Z1P; OR52Z1", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 52Z1P", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9752946)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "17973576;24800820;27515280;31530632;31974307;32066986;32387766", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A087X1Z4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0C646-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DN81-1", "uniprot_id": [ { "id": "O13C7_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DN81", "type": "external" } ], "mass": 34899.0, "length": 318, "protein_name": "Olfactory receptor 13C7", "gene_name": "OR13C7", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR13C7; OR13C7P", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 13C7", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "22908908;35051231;38253038", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P0DN81-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21953-1", "uniprot_id": [ { "id": "ODBB_HUMAN", "url": "https://www.uniprot.org/uniprot/P21953", "type": "external" } ], "mass": 43122.0, "length": 392, "protein_name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial", "gene_name": "BCKDHB", "organism": "Human", "refseq_name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_000047", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000047", "type": "external" } ], "gene_names_uniprotkb": "BCKDHB", "gene_names_refseq": "BCKDE1B; BCKDH E1-beta; BCKDHB; E1B; MSUD1B; OVD1B", "protein_names_uniprotkb": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; 1.2.4.4; BCKDE1B; BCKDH E1-beta; Branched-chain alpha-keto acid dehydrogenase E1 component beta chain", "protein_names_refseq": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1 precursor; 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; E1b-beta subunit of the branched-chain complex; branched chain alpha-ketoacid dehydrogenase E1-beta subunit; branched chain keto acid dehydrogenase E1 beta; branched chain keto acid dehydrogenase E1, beta polypeptide; branched-chain alpha-keto acid dehydrogenase E1 component beta chain; testis secretory sperm-binding protein Li 240mP", "tax_id": 9606, "disease": "maple syrup urine disease type IA (Disease Ontology:DOID:0061203); maple syrup urine disease type IB (Disease Ontology:DOID:0061206); maple syrup urine disease (Disease Ontology:DOID:9269)", "pathway": " (hsa:594); (R-HSA-70895); (R-HSA-9859138); (R-HSA-9865113); (R-HSA-9865125); (R-HSA-9907570); (R-HSA-9912481); (R-HSA-9912529)", "pathway_count": 8, "publication_count": 76, "publication_id_list": "10448086;10745006;10832746;10947204;11013134;11181649;11264579;11406611;11509994;11687750;11738050;11839747;11862315;12269802;12359132;12434311;12696021;13416257;14752098;15166214;1527093;15342248;15576032;15946682;16023992;16141215;16442803;16770810;17371050;1847055;1885764;19608861;22291014;22326532;22956686;23086801;2335211;23485643;2365818;24449431;25888644;26251176;26375851;28510447;28904123;3082934;31217245;31435015;31844290;33298915;33592498;33912179;33968037;34187135;34511290;34883003;35051231;3597357;36241641;36729635;40914422;6928646;7356336;7883996;7918575;8037208;8161368;8651316;8824301;8968745;9165094;9214289;9540846;9582350;9621512;9889013", "class_list": "", "function": "Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults., [RefSeq, PubMed]; Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]; Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease. Publication Status: Online-Only, [RefSeq, PubMed]; Together with BCKDHA forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the branched-chain amino-acids valine, leucine and isoleucine producing CO2 and acyl-CoA which is subsequently utilized to produce energy. The E1 subunit catalyzes the first step with the decarboxylation of the alpha-ketoacid forming an enzyme-product intermediate. A reductive acylation mediated by the lipoylamide cofactor of E2 extracts the acyl group from the E1 active site for the next step of the reaction., [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": 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": "Q5T2J3;Q9BQL0", "ec_number_list": [ { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "1.2.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.4", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" } ], "go_molecular_function": "GO:0003863 branched-chain 2-oxo acid dehydrogenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0160157 branched-chain alpha-ketoacid dehydrogenase complex", "go_biological_process": "GO:0007584 response to nutrient;GO:0009083 branched-chain amino acid catabolic process;GO:0120552 branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P21953-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0GE19-2", "uniprot_id": [ { "id": "NTCP7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0GE19", "type": "external" } ], "mass": 37432.0, "length": 340, "protein_name": "Sodium/bile acid cotransporter 7", "gene_name": "SLC10A7", "organism": "Human", "refseq_name": "sodium/bile acid cotransporter 7 isoform b", "refseq_ac": [ { "id": "NP_001025169", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025169", "type": "external" } ], "gene_names_uniprotkb": "SLC10A7; C4orf13; P7; PSEC0051", "gene_names_refseq": "C4orf13; P7; SLC10A7; SSASKS", "protein_names_uniprotkb": "Sodium/bile acid cotransporter 7; Na(+)/bile acid cotransporter 7; Solute carrier family 10 member 7", "protein_names_refseq": "Na(+)/bile acid cotransporter 7; SBF-domain containing protein; sodium/bile acid cotransporter 7 isoform b; sodium/bile acid cotransporter 7; solute carrier family 10 (sodium/bile acid cotransporter family), member 7", "tax_id": 9606, "disease": "syndrome (Disease Ontology:DOID:225); short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MONDO:MONDO:0032703)", "pathway": " (hsa:84068)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11230166;15932064;17628207;19240061;26992070;28218747;28514659;28904123;29878199;30082715;30410026;30429286;31191616;32350084;32938616;33561315;34357683;34999954;35251023;35580925;38037133", "class_list": "", "function": "Circular RNA circHECTD1 facilitates glioma progression by regulating the miR-296-3p/SLC10A7 axis., [RefSeq, PubMed]; Cloning and characterization; mapped to chromosome 4q31.2 and contains 12 exons; widely expressed in human tissues, [RefSeq, PubMed]; Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Involved in teeth and skeletal development. Has an essential role in the biosynthesis and trafficking of glycosaminoglycans and glycoproteins, to produce a proper functioning extracellular matrix. Required for extracellular matrix mineralization (PubMed:29878199, PubMed:30082715). Also involved in the regulation of cellular calcium homeostasis (PubMed:30082715, PubMed:31191616). Does not show transport activity towards bile acids or steroid sulfates (including taurocholate, cholate, chenodeoxycholate, estrone-3-sulfate, dehydroepiandrosterone sulfate (DHEAS) and pregnenolone sulfate)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Molecular characterization and expression analysis of a novel member of the SLC10 family, SLC10A7, previously known as C4orf13, is reported, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7E2E6;A7MAX9;Q0VAP9;Q45NG1;Q45NG2;Q5H9S6;Q6P4E6;Q8IZ62;Q8NBP8;Q9H0M9", "ec_number_list": [], "go_molecular_function": "GO:0015293 symporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006874 intracellular calcium ion homeostasis;GO:0060348 bone development;GO:0006814 sodium ion transport;GO:0030210 heparin proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q0GE19-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14973-1", "uniprot_id": [ { "id": "NTCP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14973", "type": "external" } ], "mass": 38119.0, "length": 349, "protein_name": "Hepatic sodium/bile acid cotransporter", "gene_name": "SLC10A1", "organism": "Human", "refseq_name": "hepatic sodium/bile acid cotransporter", "refseq_ac": [ { "id": "NP_003040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003040", "type": "external" } ], "gene_names_uniprotkb": "SLC10A1; GIG29; NTCP", "gene_names_refseq": "FHCA2; NTCP; SLC10A1", "protein_names_uniprotkb": "Hepatic sodium/bile acid cotransporter; Cell growth-inhibiting gene 29 protein; NTCP; Na(+)/bile acid cotransporter; Na(+)/taurocholate transport protein; SLC10A1; Sodium/taurocholate cotransporting polypeptide; Solute carrier family 10 member 1", "protein_names_refseq": "Na(+)/bile acid cotransporter; Na(+)/taurocholate transport protein; Na/taurocholate cotransporting polypeptide; cell growth-inhibiting gene 29 protein; growth-inhibiting protein 29; hepatic sodium/bile acid cotransporter; sodium/bile acid cotransporter; sodium/taurocholate cotransporter; sodium/taurocholate cotransporting polypeptide; solute carrier family 10 (sodium/bile acid cotransporter family), member 1; solute carrier family 10 (sodium/bile acid cotransporter), member 1", "tax_id": 9606, "disease": "familial hypercholanemia 2 (Disease Ontology:DOID:0061182); alcoholic hepatitis (Disease Ontology:DOID:12351); cholestasis (Disease Ontology:DOID:13580); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6554); (R-HSA-159418)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10334992;10334993;10358072;10601278;10884298;10987286;11031103;11159893;11387316;11870371;11980911;12044156;12220224;12393883;12404239;12404240;12409283;12486725;12663868;12704183;12815072;13416382;14660639;14699511;14701722;16027164;16317684;16541101;16908160;17650074;2037576;21081667;23018617;23150796;23337244;24867799;25418280;26642861;27882152;28125599;28283843;28835676;29290974;29557506;29793953;30524438;31661128;32101444;32387766;33222321;34060352;34369070;35545671;35580629;35580630;36010968;36284347;38233573;38749427;38869622;39297647;7077161;7557095;7588781;8034703;8132774;9458785", "class_list": "", "function": "(Microbial infection) Acts as an entry receptor for hepatitis B virus (HBV) (PubMed:23150796). The recognition for human SLC10A1/NTCP is highly specific (PubMed:35545671, PubMed:35580629, PubMed:35580630, PubMed:38233573)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; A domain critical for bile acid substrate recognition of SLC10A1 has an ethnicity-dependent polymorphism, [RefSeq, PubMed]; As a major transporter of conjugated bile salts from plasma into the hepatocyte, it plays a key role in the enterohepatic circulation of bile salts necessary for the solubilization and absorption of dietary fat and fat-soluble vitamins (PubMed:14660639, PubMed:24867799, PubMed:34060352, PubMed:8132774). It is strictly dependent on the extracellular presence of sodium (PubMed:14660639, PubMed:24867799, PubMed:34060352, PubMed:8132774). It exhibits broad substrate specificity and transports various bile acids, such as taurocholate, cholate, as well as non-bile acid organic compounds, such as estrone sulfate (PubMed:14660639, PubMed:34060352). Works collaboratively with the ileal transporter (NTCP2), the organic solute transporter (OST), and the bile salt export pump (BSEP), to ensure efficacious biological recycling of bile acids during enterohepatic circulation (PubMed:33222321)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Conserved NTCP/Ntcp 5'-regulatory region transcription regulation differs among species and is not directly regulated by small heterodimer partner. Bile acids may regulate NTCP/Ntcp indirectly by modulating nuclear factor regulation of gene expression., [RefSeq, PubMed]; Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation., [RefSeq, PubMed]; SLC10A1 rs2296651 variant (S267F mutation) predicts biochemical traits, hepatitis B virus infection susceptibility and the risk of gallstone disease. Publication Status: Online-Only, [RefSeq, PubMed]; The loss of hepatitis B virus receptor NTCP/SLC10A1 in human liver cancer cells is due to epigenetic silencing., [RefSeq, PubMed]; The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011]., [RefSeq]; Translation/insertion scanning, alanine insertion, and glycosylation site mutagenesis studies of liver sodium/bile acid cotransporter support a topography with nine membrane-spanning or membrane-associated segments., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 9, "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": "B9EGB6;Q2TU29", "ec_number_list": [], "go_molecular_function": "GO:0001618 virus receptor activity;GO:0015125 bile acid transmembrane transporter activity;GO:0008508 bile acid:sodium symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0045471 response to ethanol;GO:0015721 bile acid and bile salt transport;GO:0031667 response to nutrient levels;GO:0071466 cellular response to xenobiotic stimulus;GO:0043627 response to estrogen", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q14973-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VZR2-1", "uniprot_id": [ { "id": "NTM2G_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VZR2", "type": "external" } ], "mass": 79011.0, "length": 741, "protein_name": "NUT family member 2G", "gene_name": "NUTM2G", "organism": "Human", "refseq_name": "NUT family member 2G isoform 1", "refseq_ac": [ { "id": "NP_001038942", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001038942", "type": "external" } ], "gene_names_uniprotkb": "NUTM2G; FAM22G", "gene_names_refseq": "FAM22G; NUTM2G; NUTMG", "protein_names_uniprotkb": "NUT family member 2G", "protein_names_refseq": "NUT family member 2G isoform 1; family with sequence similarity 22, member G; family with sequence similarity 22, pseudogene; protein FAM22G", "tax_id": 9606, "disease": "", "pathway": " (hsa:441457)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "32502341;33141586", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NNI5;Q5VZR3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5VZR2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IF63-1", "uniprot_id": [ { "id": "O52W1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IF63", "type": "external" } ], "mass": 34414.0, "length": 320, "protein_name": "Olfactory receptor 52W1", "gene_name": "OR52W1", "organism": "Human", "refseq_name": "olfactory receptor 52W1", "refseq_ac": [ { "id": "NP_001005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005178", "type": "external" } ], "gene_names_uniprotkb": "OR52W1; OR52W1P", "gene_names_refseq": "OR11-71; OR52W1P; OR52W1", "protein_names_uniprotkb": "Olfactory receptor 52W1; Olfactory receptor OR11-71", "protein_names_refseq": "olfactory receptor 52W1; olfactory receptor OR11-71; olfactory receptor, family 52, subfamily W, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:120787); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;23481700;24800820;27515280;31974307;32066986;34087483;35051231;36241641", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8NH78", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6IF63-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWF7-1", "uniprot_id": [ { "id": "NXPE4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWF7", "type": "external" } ], "mass": 62263.0, "length": 544, "protein_name": "NXPE family member 4", "gene_name": "NXPE4", "organism": "Human", "refseq_name": "NXPE family member 4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001071107", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071107", "type": "external" } ], "gene_names_uniprotkb": "NXPE4; C11orf33; FAM55D; PRO9799", "gene_names_refseq": "C11orf33; FAM55D; NXPE4", "protein_names_uniprotkb": "NXPE family member 4; Protein FAM55D", "protein_names_refseq": "NXPE family member 4 isoform 1 precursor; NXPE family member 4; family with sequence similarity 55, member D; protein FAM55D", "tax_id": 9606, "disease": "", "pathway": " (hsa:54827)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12975309;15375555;29242379;29331515;29557506;31297877;31848261;35051231", "class_list": "", "function": "Neurexophilin and PC-esterase domain family member 4 (NXPE4) and prostate androgen-regulated mucin-like protein 1 (PARM1) as prognostic biomarkers for colorectal cancer., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q6QDB4;Q9NXP5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6UWF7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZSK4-1", "uniprot_id": [ { "id": "NTAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZSK4", "type": "external" } ], "mass": 15188.0, "length": 140, "protein_name": "Putative uncharacterized protein NTM-AS1", "gene_name": "NTM-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "NTM-AS1; C11orf39", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein NTM-AS1; NTM antisense RNA 1; NTM antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q6ZSK4-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGB8-1", "uniprot_id": [ { "id": "O4F15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGB8", "type": "external" } ], "mass": 35369.0, "length": 312, "protein_name": "Olfactory receptor 4F15", "gene_name": "OR4F15", "organism": "Human", "refseq_name": "olfactory receptor 4F15", "refseq_ac": [ { "id": "NP_001001674", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001674", "type": "external" } ], "gene_names_uniprotkb": "OR4F15", "gene_names_refseq": "OR4F15", "protein_names_uniprotkb": "Olfactory receptor 4F15; Olfactory receptor OR15-14", "protein_names_refseq": "olfactory receptor 4F15; olfactory receptor OR15-14", "tax_id": 9606, "disease": "", "pathway": " (hsa:390649); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231;38253038", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RNQ5;Q6IF57;Q96R70", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NGB8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGI1-1", "uniprot_id": [ { "id": "O56B2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGI1", "type": "external" } ], "mass": 35429.0, "length": 316, "protein_name": "Olfactory receptor 56B2", "gene_name": "OR56B2", "organism": "Human", "refseq_name": "olfactory receptor 56B2", "refseq_ac": [ { "id": "NP_001382986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382986", "type": "external" } ], "gene_names_uniprotkb": "OR56B2; OR56B2P", "gene_names_refseq": "OR11-63; OR56B2P; OR56B2", "protein_names_uniprotkb": "Olfactory receptor 56B2", "protein_names_refseq": "olfactory receptor 56B2; olfactory receptor OR11-63; olfactory receptor family 56 subfamily B member 2 pseudogene; putative olfactory receptor 56B2; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:390073)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNP8;Q6IF77", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NGI2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGJ4-1", "uniprot_id": [ { "id": "O52E2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGJ4", "type": "external" } ], "mass": 36630.0, "length": 325, "protein_name": "Olfactory receptor 52E2", "gene_name": "OR52E2", "organism": "Human", "refseq_name": "olfactory receptor 52E2", "refseq_ac": [ { "id": "NP_001005164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005164", "type": "external" } ], "gene_names_uniprotkb": "OR52E2", "gene_names_refseq": "OR52E2", "protein_names_uniprotkb": "Olfactory receptor 52E2", "protein_names_refseq": "olfactory receptor 52E2; olfactory receptor, family 10, subfamily AC, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:119678); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "24800820;27515280;29557506;31844290;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RN66;Q6IF20;Q96R40", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGT2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGT7-1", "uniprot_id": [ { "id": "O2A12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGT7", "type": "external" } ], "mass": 35213.0, "length": 310, "protein_name": "Olfactory receptor 2A12", "gene_name": "OR2A12", "organism": "Human", "refseq_name": "olfactory receptor 2A12", "refseq_ac": [ { "id": "NP_001004135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004135", "type": "external" } ], "gene_names_uniprotkb": "OR2A12; OR2A12P", "gene_names_refseq": "OR2A12P; OR2A12; OR2A16P", "protein_names_uniprotkb": "Olfactory receptor 2A12; Olfactory receptor OR7-10", "protein_names_refseq": "olfactory receptor 2A12; olfactory receptor OR7-10; olfactory receptor, family 2, subfamily A, member 12 pseudogene; olfactory receptor, family 2, subfamily A, member 16 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:346525); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "14983052;24800820;25977809;27515280;28228285;29789417;31844290;31974307;32066986;32488085;32983136;33141586", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D2G4;Q6IF43", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8NGT7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH57-1", "uniprot_id": [ { "id": "O52P1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH57", "type": "external" } ], "mass": 34890.0, "length": 321, "protein_name": "Olfactory receptor 52P1", "gene_name": "OR52P1", "organism": "Human", "refseq_name": "olfactory receptor 52P1", "refseq_ac": [ { "id": "NP_001382845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382845", "type": "external" } ], "gene_names_uniprotkb": "OR52P1; OR52P1P", "gene_names_refseq": "OR11-66; OR52P1P; OR52P1", "protein_names_uniprotkb": "Olfactory receptor 52P1", "protein_names_refseq": "olfactory receptor 52P1; olfactory receptor OR11-66 pseudogene; olfactory receptor family 52 subfamily P member 1 pseudogene; putative olfactory receptor 52P1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81248)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "23481700;32387766;33968037", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8NH57-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH59-1", "uniprot_id": [ { "id": "O51Q1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH59", "type": "external" } ], "mass": 35747.0, "length": 317, "protein_name": "Olfactory receptor 51Q1", "gene_name": "OR51Q1", "organism": "Human", "refseq_name": "olfactory receptor 51Q1", "refseq_ac": [ { "id": "NP_001004757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004757", "type": "external" } ], "gene_names_uniprotkb": "OR51Q1", "gene_names_refseq": "OR51Q1", "protein_names_uniprotkb": "Olfactory receptor 51Q1", "protein_names_refseq": "olfactory receptor 51Q1", "tax_id": 9606, "disease": "", "pathway": " (hsa:390061); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "17973576;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RNZ9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NH90-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH95-1", "uniprot_id": [ { "id": "O13C6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH95", "type": "external" } ], "mass": 16702.0, "length": 151, "protein_name": "Putative olfactory receptor 13C6", "gene_name": "OR13C6P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR13C6P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative olfactory receptor 13C6; Olfactory receptor, family 13, subfamily C, member 6 pseudogene; Olfactory receptor, family 13, subfamily C, member 7 pseudogene; Putative olfactory receptor 13C7", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8NH95-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHA4-1", "uniprot_id": [ { "id": "O2AE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHA4", "type": "external" } ], "mass": 36588.0, "length": 323, "protein_name": "Olfactory receptor 2AE1", "gene_name": "OR2AE1", "organism": "Human", "refseq_name": "olfactory receptor 2AE1", "refseq_ac": [ { "id": "NP_001005276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005276", "type": "external" } ], "gene_names_uniprotkb": "OR2AE1; OR2AE2", "gene_names_refseq": "OR2AE1; OR2AE2", "protein_names_uniprotkb": "Olfactory receptor 2AE1; Olfactory receptor 2AE2", "protein_names_refseq": "olfactory receptor 2AE1; olfactory receptor 2AE2; olfactory receptor, family 2, subfamily AE, member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:81392); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "24800820;27515280;27893789;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB065478.1. Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RPD2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NHA4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHC6-1", "uniprot_id": [ { "id": "O14L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHC6", "type": "external" } ], "mass": 36656.0, "length": 325, "protein_name": "Olfactory receptor 14L1", "gene_name": "OR14L1", "organism": "Human", "refseq_name": "olfactory receptor 14L1", "refseq_ac": [ { "id": "NP_001383035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001383035", "type": "external" } ], "gene_names_uniprotkb": "OR14L1; OR14L1P; OR5AV1P", "gene_names_refseq": "OR1-35; OR1-36; OR14L1P; OR14L1; OR5AV1P; OR5AV1", "protein_names_uniprotkb": "Olfactory receptor 14L1; Olfactory receptor 5AV1", "protein_names_refseq": "olfactory receptor 14L1; olfactory receptor OR1-35 pseudogene; olfactory receptor OR1-36; olfactory receptor family 14 subfamily L member 1 pseudogene; olfactory receptor, family 5, subfamily AV, member 1 pseudogene; putative olfactory receptor 14L1; putative olfactory receptor 5AV1", "tax_id": 9606, "disease": "", "pathway": " (hsa:127617)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A6Q8PHD8;Q5JQT0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8NHC6-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RD2-1", "uniprot_id": [ { "id": "O52B2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RD2", "type": "external" } ], "mass": 36185.0, "length": 323, "protein_name": "Olfactory receptor 52B2", "gene_name": "OR52B2", "organism": "Human", "refseq_name": "olfactory receptor 52B2", "refseq_ac": [ { "id": "NP_001004052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004052", "type": "external" } ], "gene_names_uniprotkb": "OR52B2", "gene_names_refseq": "OR11-70; OR52B2", "protein_names_uniprotkb": "Olfactory receptor 52B2; Olfactory receptor OR11-70", "protein_names_refseq": "olfactory receptor 52B2; olfactory receptor OR11-70", "tax_id": 9606, "disease": "", "pathway": " (hsa:255725); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;23328677;24800820;27515280;31974307;32066986;32387766;35051231;36010968", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": "Q8NGM7", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96RD2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSC4-1", "uniprot_id": [ { "id": "NOL10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSC4", "type": "external" } ], "mass": 80302.0, "length": 688, "protein_name": "Nucleolar protein 10", "gene_name": "NOL10", "organism": "Human", "refseq_name": "nucleolar protein 10 isoform 2", "refseq_ac": [ { "id": "NP_001248321", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248321", "type": "external" } ], "gene_names_uniprotkb": "NOL10", "gene_names_refseq": "NOL10; PQBP5", "protein_names_uniprotkb": "Nucleolar protein 10", "protein_names_refseq": "H_NH0074G24.1; nucleolar protein 10 isoform 2; polyglutamine binding protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:79954)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12429849;18669648;20068231;22223895;23186163;23481700;24715725;25576301;25645385;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29769354;30315122;30429286;30524438;30833945;31154438;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34357683;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36599853", "class_list": "", "function": "PQBP5/NOL10 maintains and anchors the nucleolus under physiological and osmotic stress conditions. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "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": "A8K3R5;B4DLV0;Q53RC9;Q96TA5;Q9H7Y7;Q9H855", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9BSC4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H344-1", "uniprot_id": [ { "id": "O51I2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H344", "type": "external" } ], "mass": 35002.0, "length": 312, "protein_name": "Olfactory receptor 51I2", "gene_name": "OR51I2", "organism": "Human", "refseq_name": "olfactory receptor 51I2", "refseq_ac": [ { "id": "NP_001004754", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004754", "type": "external" } ], "gene_names_uniprotkb": "OR51I2", "gene_names_refseq": "OR11-38; OR51I2", "protein_names_uniprotkb": "Olfactory receptor 51I2; Odorant receptor HOR5'beta12; Olfactory receptor OR11-38", "protein_names_refseq": "HOR5'Beta12; odorant receptor HOR5'beta12; olfactory receptor 51I2; olfactory receptor OR11-38", "tax_id": 9606, "disease": "", "pathway": " (hsa:390064); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11121057;14983052;24715725;24800820;27515280;31848261;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). 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[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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NDL8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NET4-1", "uniprot_id": [ { "id": "OR5K3_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NET4", "type": "external" } ], "mass": 36711.0, "length": 321, "protein_name": "Olfactory receptor 5K3", "gene_name": "OR5K3", "organism": "Human", "refseq_name": "olfactory receptor 5K3", "refseq_ac": [ { "id": "NP_001005516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005516", "type": "external" } ], "gene_names_uniprotkb": "OR5K3", "gene_names_refseq": "OR5K3", "protein_names_uniprotkb": "Olfactory receptor 5K3", "protein_names_refseq": "olfactory receptor 5K3", "tax_id": 9606, "disease": "", "pathway": " (hsa:403277); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "24715725;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane (By similarity)., [UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 20, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0017056 structural constituent of nuclear pore;GO:0008139 nuclear localization sequence binding", "go_cellular_component": "GO:0005643 nuclear pore", "go_biological_process": "GO:0051028 mRNA transport;GO:0006405 RNA export from nucleus;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "A6NF01-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NHG9-1", "uniprot_id": [ { "id": "O5H14_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NHG9", "type": "external" } ], "mass": 35099.0, "length": 310, "protein_name": "Olfactory receptor 5H14", "gene_name": "OR5H14", "organism": "Human", "refseq_name": "olfactory receptor 5H14", "refseq_ac": [ { "id": "NP_001005514", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005514", "type": "external" } ], "gene_names_uniprotkb": "OR5H14", "gene_names_refseq": "OR5H14", "protein_names_uniprotkb": "Olfactory receptor 5H14", "protein_names_refseq": "olfactory receptor 5H14; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:403273); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;29557506;31974307;32066986;32350084", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 22, "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": "B9EH15", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A6NHG9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NKK0-1", "uniprot_id": [ { "id": "OR5H1_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NKK0", "type": "external" } ], "mass": 35387.0, "length": 313, "protein_name": "Olfactory receptor 5H1", "gene_name": "OR5H1", "organism": "Human", "refseq_name": "olfactory receptor 5H1", "refseq_ac": [ { "id": "NP_001005338", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005338", "type": "external" } ], "gene_names_uniprotkb": "OR5H1", "gene_names_refseq": "HSHTPCRX14; HTPCRX14; OR5H1", "protein_names_uniprotkb": "Olfactory receptor 5H1; HTPCRX14", "protein_names_refseq": "olfactory receptor 5H1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26341); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "1370859;24800820;27515280;29557506;31974307;32066986;34561969;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NKK0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NL26-1", "uniprot_id": [ { "id": "O5B21_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NL26", "type": "external" } ], "mass": 34174.0, "length": 309, "protein_name": "Olfactory receptor 5B21", "gene_name": "OR5B21", "organism": "Human", "refseq_name": "olfactory receptor 5B21", "refseq_ac": [ { "id": "NP_001005218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005218", "type": "external" } ], "gene_names_uniprotkb": "OR5B21", "gene_names_refseq": "OR5B21", "protein_names_uniprotkb": "Olfactory receptor 5B21", "protein_names_refseq": "olfactory receptor 5B21", "tax_id": 9606, "disease": "", "pathway": " (hsa:219968); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "24800820;27515280;31974307;32066986;32387766;35580925", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A6NL26-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43612-1", "uniprot_id": [ { "id": "OREX_HUMAN", "url": "https://www.uniprot.org/uniprot/O43612", "type": "external" } ], "mass": 13363.0, "length": 131, "protein_name": "Hypocretin neuropeptide precursor", "gene_name": "HCRT", "organism": "Human", "refseq_name": "hypocretin neuropeptide precursor precursor", "refseq_ac": [ { "id": "NP_001515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001515", "type": "external" } ], "gene_names_uniprotkb": "HCRT; OX; PPORX; PPOX", "gene_names_refseq": "HCRT; NRCLP1; OX; PPOX", "protein_names_uniprotkb": "Hypocretin neuropeptide precursor; Hcrt1; Hcrt2; Hcrt; Hypocretin-1; Hypocretin-2; Hypocretin; Orexin precursor; Prepro-orexin; Preprohypocretin", "protein_names_refseq": "hypocretin (orexin) neuropeptide; hypocretin neuropeptide precursor precursor; orexin; prepro-orexin; preprohypocretin", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); obstructive sleep apnea (Disease Ontology:DOID:0050848); withdrawal disorder (Disease Ontology:DOID:0060001); sleeping sickness (Disease Ontology:DOID:10112); Prader-Willi syndrome (Disease Ontology:DOID:11983); Guillain-Barre syndrome (Disease Ontology:DOID:12842); alcohol use disorder (Disease Ontology:DOID:1574); cannabis dependence (Disease Ontology:DOID:1849); hyperglycemia (Disease Ontology:DOID:4195); narcolepsy (Disease Ontology:DOID:8986); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:3060); (R-HSA-389397); (R-HSA-416476)", "pathway_count": 3, "publication_count": 52, "publication_id_list": "10191087;10364220;10567430;10583376;10727532;10861009;10973318;11015615;11024015;11030716;11283317;11340621;11574155;11742120;11753430;12120503;12714592;14769912;15479620;15951850;16182515;16268778;16339447;16429482;16754659;16923326;18434541;18515384;18577758;18936096;1905813;28364420;2841328;30541895;30783092;3086311;31748512;32387766;33547286;35580925;35914171;37628739;38108866;38240911;38685674;38892431;7937899;8664309;9224703;9305846;9491897;9770463", "class_list": "", "function": "Bi-allelic variants in HCRT cause autosomal recessive narcolepsy., [RefSeq, PubMed]; Binds to orexin receptor HCRTR2/OX2R only (By similarity). Stimulates food intake (By similarity). Modulates pituitary luteinizing hormone secretion in an ovarian steroid-dependent manner (By similarity)., [UniProtKB, UniProtKB]; Binds to orexin receptors HCRTR1/OX1R and HCRTR2/OX2R with a high affinity (By similarity). Stimulates food intake (By similarity). Modulates pituitary luteinizing hormone secretion in an ovarian steroid-dependent manner (By similarity)., [UniProtKB, UniProtKB]; Increased Expression of Orexin-A in Patients Affected by Polycystic Kidney Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction of Orexin and Bone Morphogenetic Proteins in Steroidogenesis by Human Adrenocortical Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. A broader role in the homeostatic regulation of energy metabolism, autonomic function, hormonal balance and the regulation of body fluids, is also suggested., [UniProtKB, UniProtKB]; Orexin-A mediates glioblastoma proliferation inhibition by increasing ferroptosis triggered by unstable iron pools and GPX4 depletion., [RefSeq, PubMed]; The role of orexin in fatigue and sleep quality in patients with primary Sjogren's syndrome., [RefSeq, PubMed]; This gene encodes a hypothalamic neuropeptide precursor protein that gives rise to two mature neuropeptides, orexin A and orexin B, by proteolytic processing. Orexin A and orexin B, which bind to orphan G-protein coupled receptors HCRTR1 and HCRTR2, function in the regulation of sleep and arousal. This neuropeptide arrangement may also play a role in feeding behavior, metabolism, and homeostasis. [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005184 neuropeptide hormone activity;GO:0031771 type 1 orexin receptor binding;GO:0031772 type 2 orexin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005791 rough endoplasmic reticulum;GO:0048471 perinuclear region of cytoplasm;GO:0098794 postsynapse;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0051970 negative regulation of transmission of nerve impulse;GO:0001659 temperature homeostasis;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007218 neuropeptide signaling pathway;GO:0042594 response to starvation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "O43612-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60890-1", "uniprot_id": [ { "id": "OPHN1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60890", "type": "external" } ], "mass": 91641.0, "length": 802, "protein_name": "Oligophrenin-1", "gene_name": "OPHN1", "organism": "Human", "refseq_name": "oligophrenin-1 isoform 1", "refseq_ac": [ { "id": "NP_002538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002538", "type": "external" } ], "gene_names_uniprotkb": "OPHN1", "gene_names_refseq": "ARHGAP41; MRX60; MRXSBL; OPHN1; OPN1", "protein_names_uniprotkb": "Oligophrenin-1", "protein_names_refseq": "oligophrenin-1 isoform 1; oligophrenin-1, Rho-GTPase activating protein", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); Billuart-type X-linked syndromic intellectual developmental disorder (Disease Ontology:DOID:0080311)", "pathway": " (hsa:4983); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423)", "pathway_count": 11, "publication_count": 404, "publication_id_list": "10037681;10232922;10439959;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10619026;10652265;10699171;10699464;10724160;10818214;10847683;10873388;10873802;10958683;10967094;11007481;11058585;11085924;11145705;11149925;11185749;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11919634;11948177;11956649;11961559;11967128;12071859;12093360;12096337;12172552;12177196;12195014;12221077;12221096;12242347;12351724;12376551;12432077;12456725;12464619;12473120;12531887;12546821;12547822;12650940;12665586;12773384;12777533;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15169870;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15542837;15546864;15579468;15601624;15611138;15710388;15728722;15814684;15850391;15858067;15866170;15897194;15944396;16002401;16081809;16112081;16116428;16184169;16217026;16243035;16243036;16339170;16467373;16473593;16492808;16507994;16519628;1660188;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16968698;17027967;17060455;17064668;17077126;17145773;17158234;17196961;17198702;17214551;17244649;17269730;17562871;17583407;17599059;17698854;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18191593;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18662984;18697831;18786931;18802007;18829452;18835169;18838382;18929667;19258391;19269969;19494238;19534724;19581409;19605563;19635168;19651622;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21151158;21351730;21373644;21378159;21454492;21542010;21565175;21576392;21613211;21621533;21685891;21699497;21730051;21757538;21796728;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22790947;22911862;22970203;22971344;22992742;23029280;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23757206;23870057;23870313;23940355;24086303;24128008;24259668;24297911;24335996;24352656;24355937;24584464;24623723;24659802;24859002;24933155;24960694;24996924;25024229;25211221;25425145;25428919;25576301;25673874;25678704;25704760;25721503;25795300;25862245;25963737;26016997;26129894;26299518;26371245;26529257;26598554;26628301;26887924;27096001;27117132;27145964;27216196;27390894;27481945;27555588;27566826;27713499;27742778;27798618;27806292;27846572;27986909;28028151;28112683;28114311;28196833;28228285;28356423;28584191;28825699;28860633;29089502;29146911;29242379;29358323;29382922;29393594;29557506;30061681;30429286;30779550;30833945;30853411;31105010;31154438;31389670;31848261;31871319;32157095;32203420;32302585;32488085;32897882;32938616;33592498;33638601;33968037;33981976;34171305;34185709;34738630;35051231;35318648;35580925;37340703;38956616;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9252344;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9705280;9792683;9822598;9822605;9829970;9843499;9846874;9857026;9988689", "class_list": "", "function": "Androgen deprivationinduced OPHN1 amplification promotes castrationresistant prostate cancer., [RefSeq, PubMed]; Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay. Publication Status: Online-Only, [RefSeq, PubMed]; Furthermore, we found that olfactory behaviour was perturbed in OPHN1 ko mice. Chronic treatment with a Rho kinase inhibitor rescued most of the defects of the newly generated neurons. Altogether, our data indicated that OPHN1 plays a key role in regulating the number, morphology and function of adult-born inhibitory interneurons and contributed to identify potential therapeutic targets., [RefSeq, PubMed]; Novel unconventional variants expand the allelic spectrum of OPHN1 gene., [RefSeq, PubMed]; Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity)., [UniProtKB]; This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]., [RefSeq]; We reported on the first male patient carrying an OPHN1 mutation with IQ score within the normal limits. This observation expands the phenotypic spectrum of OPHN1 mutations., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B9EIP8;Q5JQ81;Q6PCC1;Q8WX47", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005096 GTPase activator activity;GO:0005543 phospholipid binding;GO:0035255 ionotropic glutamate receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0043195 terminal bouton;GO:0043197 dendritic spine", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0030100 regulation of endocytosis;GO:0031175 neuron projection development;GO:0034329 cell junction assembly", "synthesized_glycan_count": 0, "hit_score": 40.8, "record_id": "O60890-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76099-1", "uniprot_id": [ { "id": "OR7C1_HUMAN", "url": "https://www.uniprot.org/uniprot/O76099", "type": "external" } ], "mass": 35519.0, "length": 320, "protein_name": "Olfactory receptor 7C1", "gene_name": "OR7C1", "organism": "Human", "refseq_name": "olfactory receptor 7C1", "refseq_ac": [ { "id": "NP_945182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945182", "type": "external" } ], "gene_names_uniprotkb": "OR7C1; OR7C4", "gene_names_refseq": "CIT-HSP-146E8; HSTPCR86P; OR19-5; OR7C1; OR7C4; TPCR86", "protein_names_uniprotkb": "Olfactory receptor 7C1; Olfactory receptor 7C4; Olfactory receptor OR19-16; Olfactory receptor TPCR86", "protein_names_refseq": "olfactory receptor 7C1; olfactory receptor 7C4; olfactory receptor OR19-16; olfactory receptor TPCR86; olfactory receptor, family 7, subfamily C, member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:26664); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 23, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986;38253038;9119360", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q15621;Q6IFP2;Q96R94", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "O76099-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76100-1", "uniprot_id": [ { "id": "OR7AA_HUMAN", "url": "https://www.uniprot.org/uniprot/O76100", "type": "external" } ], "mass": 34406.0, "length": 309, "protein_name": "Olfactory receptor 7A10", "gene_name": "OR7A10", "organism": "Human", "refseq_name": "olfactory receptor 7A10", "refseq_ac": [ { "id": "NP_001005190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005190", "type": "external" } ], "gene_names_uniprotkb": "OR7A10", "gene_names_refseq": "BC85395_3; OR19-18; OR7A10", "protein_names_uniprotkb": "Olfactory receptor 7A10; OST027; Olfactory receptor OR19-18", "protein_names_refseq": "OST027; olfactory receptor 7A10; olfactory receptor OR19-18", "tax_id": 9606, "disease": "", "pathway": " (hsa:390892); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": "Q6IFP0;Q96R97", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "O76100-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95013-1", "uniprot_id": [ { "id": "O4F21_HUMAN", "url": "https://www.uniprot.org/uniprot/O95013", "type": "external" } ], "mass": 35094.0, "length": 312, "protein_name": "Olfactory receptor 4F21", "gene_name": "OR4F21", "organism": "Human", "refseq_name": "olfactory receptor 4F21", "refseq_ac": [ { "id": "NP_001005504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005504", "type": "external" } ], "gene_names_uniprotkb": "OR4F21; OR4F21P", "gene_names_refseq": "OR4F21P; OR4F21", "protein_names_uniprotkb": "Olfactory receptor 4F21", "protein_names_refseq": "olfactory receptor 4F21; olfactory receptor, family 4, subfamily F, member 21 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:441308); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "23481700;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NIU1", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "O95013-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95221-1", "uniprot_id": [ { "id": "OR5F1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95221", "type": "external" } ], "mass": 35132.0, "length": 314, "protein_name": "Olfactory receptor 5F1", "gene_name": "OR5F1", "organism": "Human", "refseq_name": "olfactory receptor 5F1", "refseq_ac": [ { "id": "NP_003688", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003688", "type": "external" } ], "gene_names_uniprotkb": "OR5F1", "gene_names_refseq": "OR11-10; OR5F1", "protein_names_uniprotkb": "Olfactory receptor 5F1; OR11-10; Olfactory receptor 11-10; Olfactory receptor OR11-167", "protein_names_refseq": "olfactory receptor 11-10; olfactory receptor 5F1; olfactory receptor OR11-167", "tax_id": 9606, "disease": "", "pathway": " (hsa:338674); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;9787077", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q495D1;Q6IFB9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "O95221-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20366-1", "uniprot_id": [ { "id": "TKN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P20366", "type": "external" } ], "mass": 15003.0, "length": 129, "protein_name": "Protachykinin-1", "gene_name": "TAC1", "organism": "Human", "refseq_name": "protachykinin-1 isoform beta precursor", "refseq_ac": [ { "id": "NP_003173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003173", "type": "external" } ], "gene_names_uniprotkb": "TAC1; NKA; NKNA; TAC2", "gene_names_refseq": "Hs.2563; NK2; NKNA; NPK; TAC1; TAC2", "protein_names_uniprotkb": "Protachykinin-1; Neuromedin L; PPT; Substance K", "protein_names_refseq": "PPT; neurokinin A; neuropeptide K; neuropeptide gamma; preprotachykinin; protachykinin-1 isoform beta precursor; protachykinin-1; protachykinin; tachykinin 2; tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); asthma (Disease Ontology:DOID:2841); pulmonary hypertension (Disease Ontology:DOID:6432); central sleep apnea (Disease Ontology:DOID:9220)", "pathway": " (hsa:6863); (R-HSA-380095); (R-HSA-416476)", "pathway_count": 3, "publication_count": 53, "publication_id_list": "10191087;10567430;10727532;10861009;10866201;11015615;11742120;11753430;12120503;1374246;15951850;16182515;16268778;16339447;16503654;16754659;16923326;1708336;1718267;17561251;18434541;18515384;18577758;18936096;1905813;21314817;2173708;2284201;2841328;29557506;3038549;30686732;3086311;31154438;31611695;31848261;32350084;34789875;35051231;35882833;37391393;3770210;37852938;37931511;37944618;38376747;6208535;7937899;8664309;9305846;9464518;9770463;9846828", "class_list": "", "function": "Deciphering specificity and cross-reactivity in tachykinin NK1 and NK2 receptors., [RefSeq, PubMed]; Is a ligand for TACR1, and triggers G protein-coupled receptor signaling via activation of phosphatidylinositol hydrolysis by phospholipase C. Substance P binding to TACR1 also triggers signaling via activation of adenylate cyclase activity which results in increased intracellular levels of cyclic AMP (cAMP) (By similarity). Is also a TACR3 agonist with low receptor affinity (PubMed:37391393). Basic secretagogue neuropeptide released from the terminals of specific sensory nerves (PubMed:30686732). Acts as a ligand for MRGPRX2 receptor in mast cells, initiating a signaling that mediates neurogenic inflammation and pain (PubMed:30686732, PubMed:34789875). Neurogenic inflammation includes mast cell activation, recruitment of immune cells and release of inflammatory mediators, such as cytokines and chemokines (By similarity). The inflammatory response can then activate or sensitize nociceptors, promoting pain (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Is a ligand for TACR2, and triggers G protein-coupled receptor signaling via activation of G(q) and phosphatidylinositol hydrolysis by phospholipase C (PubMed:35882833). Binding to TACR2 also triggers signaling via activation of adenylate cyclase activity which results in increased intracellular levels of cyclic AMP (cAMP)., [UniProtKB, UniProtKB, PubMed]; Neural Circuitry Involving Substance P in Male Sexual Behavior., [RefSeq, PubMed]; Substance P, NPY, CCK and their receptors in five brain regions in major depressive disorder with transcriptomic analysis of locus coeruleus neurons., [RefSeq, PubMed]; Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles., [UniProtKB]; The role of calcitonin gene-related peptide and substance P in the pathogenesis of dialysis headache., [RefSeq, PubMed]; This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Substance P is an antimicrobial peptide with antibacterial and antifungal properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "O60600;O60601;Q00072;Q53GH4;Q549V0;Q549V1;Q549V2;Q6FHM1", "ec_number_list": [], "go_molecular_function": "GO:0031835 substance P receptor binding", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030424 axon;GO:0043025 neuronal cell body", "go_biological_process": "GO:0032224 positive regulation of synaptic transmission, cholinergic;GO:0007320 insemination;GO:0006954 inflammatory response;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "P20366-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PEY2-1", "uniprot_id": [ { "id": "TBA3E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PEY2", "type": "external" } ], "mass": 49859.0, "length": 450, "protein_name": "Tubulin alpha-3E chain", "gene_name": "TUBA3E", "organism": "Human", "refseq_name": "tubulin alpha-3E chain", "refseq_ac": [ { "id": "NP_997195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997195", "type": "external" } ], "gene_names_uniprotkb": "TUBA3E", "gene_names_refseq": "TUBA3E", "protein_names_uniprotkb": "Tubulin alpha-3E chain; 3.6.5.-; Alpha-tubulin 3E", "protein_names_refseq": "tubulin alpha-3E chain", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); polymicrogyria (Disease Ontology:DOID:0080918); lissencephaly 3 (Disease Ontology:DOID:0112232); microlissencephaly (Disease Ontology:DOID:0112234)", "pathway": " (hsa:112714); (R-HSA-1445148); (R-HSA-190840); (R-HSA-190861); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3371497); (R-HSA-380320); (R-HSA-389960); (R-HSA-389977); (R-HSA-437239); (R-HSA-5620920); (R-HSA-5626467); (R-HSA-5663220); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8852276); (R-HSA-8955332); (R-HSA-9609690); (R-HSA-9609736); (R-HSA-9619483); (R-HSA-9646399); (R-HSA-9648025); (R-HSA-9668328); (R-HSA-983189); (R-HSA-9833482)", "pathway_count": 29, "publication_count": 630, "publication_id_list": 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"class_list": "", "function": "Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. This gene encodes an alpha tubulin that highly conserved among species. A missense mutation in this gene has been potentially linked to microlissencephaly and global developmental delay. [provided by RefSeq, Jul 2016]., [RefSeq]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "6.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.-", "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": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "5.6.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.3", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "3.4.22.49", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.49", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "2.3.1.108", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.108", "type": "external" }, { "id": "3.4.17.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.-", "type": "external" }, { "id": "3.4.17.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.24", "type": "external" }, { "id": "3.4.17.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.17", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "6.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.25", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.124", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "6.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-", "type": "external" }, { "id": "5.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" } ], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0016787 hydrolase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0000226 microtubule cytoskeleton organization;GO:0007017 microtubule-based process", "synthesized_glycan_count": 0, "hit_score": 63.3, "record_id": "Q6PEY2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHF0-1", "uniprot_id": [ { "id": "TKNK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHF0", "type": "external" } ], "mass": 13438.0, "length": 121, "protein_name": "Tachykinin-3", "gene_name": "TAC3", "organism": "Human", "refseq_name": "tachykinin-3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001171525", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171525", "type": "external" } ], "gene_names_uniprotkb": "TAC3; NKNB; PRO1155", "gene_names_refseq": "HH10; LncZBTB39; NK3; NKB; NKNB; PRO1155; TAC3; ZNEUROK1", "protein_names_uniprotkb": "Tachykinin-3; Neuromedin-K; ZNEUROK1", "protein_names_refseq": "LncZBTB39-1:2; gamma tachykinin 3; neurokinin b; neuromedin K; preprotachykinin B; tachykinin-3 isoform 2 precursor", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 10 with or without anosmia (Disease Ontology:DOID:0090089); hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:6866); (R-HSA-380095); (R-HSA-416476)", "pathway_count": 3, "publication_count": 40, "publication_id_list": "10191087;10567430;10727532;10861009;10866201;11015615;11742120;11753430;12120503;12975309;1374246;15951850;16182515;16268778;16339447;16754659;16923326;1718267;17561251;18434541;18515384;18577758;18936096;1905813;19079066;2173708;23643382;2841328;3086311;31154438;33675211;35170267;35251023;36453600;37391393;3770210;7937899;8664309;9305846;9770463", "class_list": "", "function": "Is a ligand for TACR3, and triggers G protein-coupled receptor signaling via activation of G(q) and phosphatidylinositol hydrolysis by phospholipase C (PubMed:37391393). Binding to TACR3 also triggers signaling via activation of adenylate cyclase activity which results in increased intracellular levels of cyclic AMP (cAMP) (By similarity). Is a critical central regulator of gonadal function (By similarity) (PubMed:19079066)., [UniProtKB, PubMed, UniProtKB, PubMed]; Serum kisspeptin, leptin, neuropeptide Y, and neurokinin B levels in adolescents with polycystic ovary syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles., [UniProtKB]; The overexpression of neurokinin B-neurokinin 3 receptor system exerts direct effects on the ovary under PCOS-like conditions to interfere with mitochondrial function., [RefSeq, PubMed]; The role of makorin ring finger protein-3, kisspeptin, and neurokinin B in the physiology of minipuberty. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the tachykinin family of secreted neuropeptides. The encoded preproprotein is proteolytically processed to generate the mature peptide, which is primarily expressed in the central and peripheral nervous systems and functions as a neurotransmitter. This peptide is the ligand for the neurokinin-3 receptor. This protein is also expressed in the outer syncytiotrophoblast of the placenta and may be associated with pregnancy-induced hypertension and pre-eclampsia. Mutations in this gene are associated with normosmic hypogonadotropic hypogonadism. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "Q6IAG2;Q71BC6;Q71BC9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0045777 positive regulation of blood pressure;GO:0007565 female pregnancy;GO:0007217 tachykinin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9UHF0-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YP4-1", "uniprot_id": [ { "id": "P66A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YP4", "type": "external" } ], "mass": 68063.0, "length": 633, "protein_name": "Transcriptional repressor p66-alpha", "gene_name": "GATAD2A", "organism": "Human", "refseq_name": "transcriptional repressor p66-alpha isoform 1", "refseq_ac": [ { "id": "NP_001287875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287875", "type": "external" } ], "gene_names_uniprotkb": "GATAD2A", "gene_names_refseq": "GATAD2A; p66alpha", "protein_names_uniprotkb": "Transcriptional repressor p66-alpha; GATA zinc finger domain-containing protein 2A; Hp66alpha", "protein_names_refseq": "GATA zinc finger domain-containing protein 2A; transcriptional repressor p66-alpha isoform 1; transcriptional repressor p66-alpha", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:54815); (R-HSA-3214815); (R-HSA-427389); (R-HSA-6804758); (R-HSA-73762); (R-HSA-8943724); (R-HSA-9679191); (R-HSA-9843940); (R-HSA-9844594); (R-HSA-9845323); (R-HSA-9937850); (R-HSA-9940951); (R-HSA-9976102)", "pathway_count": 13, "publication_count": 265, "publication_id_list": "10082553;10087012;10204490;10330177;10444591;10449787;10748112;10904264;10913176;10922406;10926844;10970879;10978333;11099047;11237011;11250901;11378386;11509652;11545734;11739383;11742974;11781575;11909966;11959841;11959846;12032298;12183469;12393749;12419226;12504854;12724404;12869583;14536086;15456747;1547496;15516265;15643425;15701600;15882967;16115318;16186106;16415179;16418168;16428440;16522641;16567619;16676006;16702404;16707490;16839880;16954381;16964243;17081983;17211407;17318177;17646674;17662961;17873065;17974977;18082607;18172008;18220336;18391013;18487508;18571423;18656484;18669648;18691976;18794358;19440552;19690332;19884659;20068231;20223979;20228809;20233713;2028256;20516213;20523938;20660729;21289308;21406692;21490301;21587264;22128185;22398447;22401777;22552008;22684280;22814904;23186163;23239876;23287862;23301498;23361464;23431171;23481700;23641311;24129315;24252660;24272870;24275569;24307175;24385926;24554700;24584101;24714562;24715725;24718924;24920672;25150861;25218447;25274305;25418920;25576301;25593309;25728608;25753662;25755297;25772364;25801024;25810538;26002965;26024233;26030138;26101246;26154972;26728094;26811146;26813693;26910647;26992070;27114449;27418187;27418309;27543614;27600516;27633282;27732854;27806305;27846572;27862975;27920218;2805069;28063628;28218747;28228285;28273063;28425720;28510447;28533432;28657654;28832583;28834231;28904123;28977666;29042441;29237092;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29945920;30045876;30059200;30122475;30134174;30192525;30201761;30228260;30315122;30327463;30379171;30429286;30524438;30620550;30980593;31048504;31217245;31289231;31427381;31492838;31746185;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33123756;33141586;33214551;33264408;33283408;33298915;33465208;33592498;33717175;33912179;33936100;33968037;33981976;33997955;34019948;34087483;34171305;34405274;34509645;34561969;34725712;34846842;34944103;35051231;35132862;35138101;35251023;35254053;35289036;35513511;35580925;35705054;35904180;35916866;36008597;36010968;36240223;36284347;37181331;38359823;38665916;38838015;39302247;39531497;39534244;40307207;40596516;40914422;41507163;7491500;7513682;7801123;7969165;8769649;9016654;9150135;9427644;9512513;9651585;9790534;9804427;9885572", "class_list": "", "function": "De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder. Publication Status: Online-Only, [RefSeq, PubMed]; GATA zinc finger domain-containing protein 2A (GATAD2A) deficiency reactivates fetal haemoglobin in patients with beta-thalassaemia through impaired formation of methyl-binding domain protein 2 (MBD2)-containing nucleosome remodelling and deacetylation (NuRD) complex., [RefSeq, PubMed]; LncKRT16P6 promotes tongue squamous cell carcinoma progression by sponging miR3180 and regulating GATAD2A expression., [RefSeq, PubMed]; P66alpha Suppresses Breast Cancer Cell Growth and Migration by Acting as Co-Activator of p53. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional repressor (PubMed:12183469, PubMed:16415179). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666). Enhances MBD2-mediated repression (PubMed:12183469, PubMed:16415179). Efficient repression requires the presence of GATAD2B (PubMed:16415179)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 37, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 37, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 37, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 39, "binding_glycan_count": 0, "secondary_ac_list": "B5MC40;Q7L3J2;Q96F28;Q9NPU2;Q9NXS1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0016581 NuRD complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 30.5, "record_id": "Q86YP4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWU5-1", "uniprot_id": [ { "id": "RM22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWU5", "type": "external" } ], "mass": 23641.0, "length": 206, "protein_name": "Large ribosomal subunit protein uL22m", "gene_name": "MRPL22", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL22m isoform b", "refseq_ac": [ { "id": "NP_001014990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014990", "type": "external" } ], "gene_names_uniprotkb": "MRPL22; HSPC158; MRPL25; RPML25", "gene_names_refseq": "HSPC158; L22mt; MRP-L22; MRP-L25; MRPL22; RPML25; uL22m", "protein_names_uniprotkb": "Large ribosomal subunit protein uL22m; 39S ribosomal protein L22, mitochondrial; 39S ribosomal protein L25, mitochondrial; L22mt; L25mt; MRP-L22; MRP-L25", "protein_names_refseq": "39S ribosomal protein L22, mitochondrial; 39S ribosomal protein L25, mitochondrial; L25mt; large ribosomal subunit protein uL22m isoform b; mitochondrial large ribosomal subunit protein uL22m", "tax_id": 9606, "disease": "", "pathway": " (hsa:29093); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 66, "publication_id_list": "11237011;11543634;15358359;17803939;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;22645359;23481700;25233460;25278503;25418920;25576301;25838379;26024233;26375851;26992070;27029019;27600516;27846572;27893789;28063628;28218747;28228285;28510447;28832583;28892042;28904123;29242379;29393594;29437277;29493099;29557506;29632046;30315122;30410026;30833945;31217245;31844290;31848261;31998317;32737313;32812867;33141586;33243891;33592498;33633747;33878294;33910005;33912179;34127662;34135318;34357683;34561969;35051231;35177605;35561310;36302763;36596788;37141370;38665916", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "A6NGJ8;Q5H9Q1;Q96Q51;Q9P006", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0015934 large ribosomal subunit", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9NWU5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07020-1", "uniprot_id": [ { "id": "RL18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07020", "type": "external" } ], "mass": 21634.0, "length": 188, "protein_name": "Large ribosomal subunit protein eL18", "gene_name": "RPL18", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL18 isoform 1", "refseq_ac": [ { "id": "NP_000970", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000970", "type": "external" } ], "gene_names_uniprotkb": "RPL18", "gene_names_refseq": "DBA18; L18; RPL18; eL18", "protein_names_uniprotkb": "Large ribosomal subunit protein eL18; 60S ribosomal protein L18", "protein_names_refseq": "60S ribosomal protein L18; large ribosomal subunit protein eL18 isoform 1; large ribosomal subunit protein eL18", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 18 (Disease Ontology:DOID:0111896); Diamond-Blackfan anemia (Disease Ontology:DOID:1339)", "pathway": " (hsa:6141); (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-9918481); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 18, "publication_count": 307, "publication_id_list": "10.1101/2023.09.13.557529;10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11747608;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1400365;14519844;14527413;14567916;14630918;14636577;14654843;14742663;14762106;14973490;15034551;15084397;15104674;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16964243;16989641;17053788;17142313;17189298;17267404;17322306;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18691976;18767875;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19651622;19664994;19664995;19691289;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21406692;21419344;21911577;22072790;22121020;22190735;22195017;22645359;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25469497;25525153;25576301;25578875;25645385;25810538;25901680;25957688;25969445;26092250;26154972;26237581;26375851;26728094;26992070;27108190;27397612;27526673;27600516;27846572;27920218;28063628;28065601;28132843;28228285;28280134;28510447;28685749;28832583;28834231;28904123;29242379;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29632312;29774024;29786170;29789417;29902443;30244831;30293783;30315122;30429286;30599162;30779550;30804176;30833945;31011209;31092671;31154438;31217245;31844290;31848261;31998317;32099016;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32579943;32669547;32897882;32938616;32983136;33043033;33141586;33177556;33214551;33298915;33392160;33406423;33465208;33592498;33633747;33691108;33717175;33909987;33912179;33936100;33968037;34019948;34171305;34185709;34211107;34357683;34509645;34725712;34932366;35051231;35083852;35138101;35154160;35215846;35251023;35318648;35561310;35580925;36010968;36241641;36284347;36302773;36580660;37217939;37431269;37676773;37938771;38665916;39395807;40596516;40914422;429297;592398;592399;641056;6568109;6901506;7506728;7865457;7990965;8218404;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Decreased expression of RPL15 and RPL18 exacerbated the calcification of valve interstitial cells during aortic valve calcification., [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 member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "F8VWC5;Q8WTZ6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005791 rough endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 31.5, "record_id": "Q07020-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C869-1", "uniprot_id": [ { "id": "PA24B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C869", "type": "external" } ], "mass": 87978.0, "length": 781, "protein_name": "Cytosolic phospholipase A2 beta", "gene_name": "PLA2G4B", "organism": "Human", "refseq_name": "cytosolic phospholipase A2 beta", "refseq_ac": [ { "id": "NP_001108105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108105", "type": "external" } ], "gene_names_uniprotkb": "PLA2G4B", "gene_names_refseq": "HsT16992; PLA2G4B; cPLA2-beta", "protein_names_uniprotkb": "Cytosolic phospholipase A2 beta; 3.1.1.4; 3.1.1.5; Lysophospholipase A1 group IVB; Phospholipase A2 group IVB; cPLA2-beta", "protein_names_refseq": "cytosolic phospholipase A2 beta; lysophospholipase A1 group IVB; phospholipase A2, group IVB (cytosolic)", "tax_id": 9606, "disease": "", "pathway": " (hsa:100137049); (hsa:8681); (R-HSA-1482788); (R-HSA-1482801); (R-HSA-1482839); (R-HSA-1482925); (R-HSA-1483115); (R-HSA-1483166); (R-HSA-381038)", "pathway_count": 9, "publication_count": 123, "publication_id_list": "10085124;10092508;10092647;10196188;10336645;10358058;10455175;10506173;10553003;10601334;10681567;10827079;11031251;11112443;11237011;11788596;11790796;11830583;12063250;12150957;12161451;12204115;12359733;12522102;12963729;14573790;14709560;15367102;15466936;15485873;15695510;15863501;15944408;1618844;16243729;16460752;16461360;16495223;16539657;16617059;16620771;16704971;16818490;16864775;17028579;17101204;17170135;17182612;17707131;18195019;18238778;18287005;18458083;18614531;18664523;18718904;18772128;18781350;19019078;1904318;19336658;19351971;19501189;19554302;19666841;19913121;20025994;20056178;20167866;20628086;20705608;21173190;21220512;21282569;21515882;22605381;22777291;22825852;22906437;22922100;23176821;23176823;23807634;23934110;24966474;26206935;26463208;26503625;26711011;28030848;28218747;28832583;2925608;2925633;29557506;29632711;31154438;31844290;32387766;33392160;34509645;3458202;35051231;7060561;7590364;7821823;8083230;8163052;8186247;8300559;8530346;8666242;8687421;9037597;9188469;9212163;9417066;9450183;9461603;9473480;9525960;9582313;9705332", "class_list": "", "function": "Calcium-dependent phospholipase A1 and A2 and lysophospholipase that may play a role in membrane phospholipid remodeling., [UniProtKB, PubMed, PubMed, PubMed]; Calcium-dependent phospholipase A1 and A2 and lysophospholipase. Cleaves the ester bond of the fatty acyl group attached to the sn-1 or sn-2 position of diacyl phospholipids (phospholipase A1 and A2 activity, respectively), producing lysophospholipids that may be used in deacylation-reacylation cycles. Can further hydrolyze lysophospholipids enabling complete deacylation. Has no activity toward alkylacyl phospholipids., [UniProtKB, PubMed, PubMed, PubMed]; Calcium-dependent phospholipase A2 and lysophospholipase. Cleaves the ester bond of the fatty acyl group attached to the sn-2 position of phosphatidylethanolamines, producing lysophospholipids that may be used in deacylation-reacylation cycles. Hydrolyzes lysophosphatidylcholines with low efficiency but is inefficient toward phosphatidylcholines., [UniProtKB, PubMed]; JMJD7-PLA2G4B may serve as an important therapeutic target and prognostic marker for head and neck squamous cell carcinoma development and progression., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TLR2 cooperates with MyD88, PI3K, and Rac1 in lipoteichoic acid-induced cPLA2/COX-2-dependent airway inflammatory responses, [RefSeq, PubMed]; This gene encodes a member of the cytosolic phospholipase A2 protein family. Phospholipase A2 enzymes hydrolyze the sn-2 bond of phospholipids, releasing lysophospholipids and fatty acids. This enzyme may be associated with mitochondria and early endosomes. Most tissues also express read-through transcripts from the upstream gene into this gene, some of which may encode fusion proteins combining the N-terminus of the upstream gene including its JmjC domain with the almost complete coding region of this gene, including the C2 and cytoplasmic phospholipase A2 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DRT9;O95712;Q19KD5;Q19KD6;Q59GF9;Q8TB10;Q9UKV7", "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": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "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": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "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": "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": "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": "3.4.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.-", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.1", "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:0005509 calcium ion binding;GO:0004622 phosphatidylcholine lysophospholipase activity;GO:0004623 phospholipase A2 activity;GO:0008970 phospholipase A1 activity;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005743 mitochondrial inner membrane;GO:0005829 cytosol;GO:0031901 early endosome membrane", "go_biological_process": "GO:0036148 phosphatidylglycerol acyl-chain remodeling;GO:0006954 inflammatory response;GO:0019722 calcium-mediated signaling;GO:0036152 phosphatidylethanolamine acyl-chain remodeling;GO:0036151 phosphatidylcholine acyl-chain remodeling", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "P0C869-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35268-1", "uniprot_id": [ { "id": "RL22_HUMAN", "url": "https://www.uniprot.org/uniprot/P35268", "type": "external" } ], "mass": 14787.0, "length": 128, "protein_name": "Large ribosomal subunit protein eL22", "gene_name": "RPL22", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL22", "refseq_ac": [ { "id": "NP_000974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000974", "type": "external" } ], "gene_names_uniprotkb": "RPL22", "gene_names_refseq": "EAP; HBP15/L22; HBP15; L22; RPL22; eL22", "protein_names_uniprotkb": "Large ribosomal subunit protein eL22; 60S ribosomal protein L22; EAP; EBER-associated protein; Epstein-Barr virus small RNA-associated protein; Heparin-binding protein HBp15", "protein_names_refseq": "60S ribosomal protein L22; EBER-associated protein; Epstein-Barr virus small RNA-associated protein; Epstein-Barr-encoded RNA-associated protein; heparin-binding protein 15; heparin-binding protein HBp15; large ribosomal subunit protein eL22", "tax_id": 9606, "disease": "", "pathway": " (hsa:6146); (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": 250, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;1846807;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19117535;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21740066;22072790;22121020;22190735;22195017;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23482395;23636399;23685075;23746841;2388630;24366607;24424021;24524803;24550520;24714562;25132172;25242263;25525153;25576301;25578875;25802875;25892735;25969445;26237581;26552660;26728094;26758079;26992070;27452731;27526673;27846572;27920218;28065601;28132843;28218747;28228285;28510447;28514659;28685749;28832583;28834231;29242379;29413899;29508533;29557506;29632312;29769354;29786170;30192525;30244831;30293783;30315122;30804176;30833945;31011209;31154438;31217245;31222486;31530632;31844290;31848261;32099016;32157095;32161166;32350084;32357974;32387766;32502341;32579943;32669547;32870666;32897882;32938616;32983136;33091337;33141586;33214551;33392160;33406423;33592498;33691108;33717175;33909987;33968037;34019948;34171305;34220863;34357683;34561969;34725712;35051231;35083852;35138101;35154160;35230214;35251023;35580925;36010968;36302773;37217939;37676773;38665916;39258545;429297;592398;592399;641056;6568109;6901506;7990965;8135813;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "CRISPR screening uncovers nucleolar RPL22 as a heterochromatin destabilizer and senescence driver., [RefSeq, PubMed]; Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed]; Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; L22 ribosomal protein is involved in dynamin-related protein 1-mediated gastric carcinoma progression., [RefSeq, PubMed]; RPL22 Overexpression Promotes Psoriasis-Like Lesion by Inducing Keratinocytes Abnormal Biological Behavior. Publication Status: Online-Only, [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22E family of ribosomal proteins. Its initiating methionine residue is post-translationally removed. The protein can bind specifically to Epstein-Barr virus-encoded RNAs (EBERs) 1 and 2. The mouse protein has been shown to be capable of binding to heparin. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. It was previously thought that this gene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) gene located at 21q22 in some therapy-related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26, and this gene actually maps to 1p36.3-p36.2. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R495;Q6IBD1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0006412 translation;GO:0002181 cytoplasmic translation;GO:0140236 translation at presynapse", "synthesized_glycan_count": 0, "hit_score": 25.3, "record_id": "P35268-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15669-1", "uniprot_id": [ { "id": "RHOH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15669", "type": "external" } ], "mass": 21331.0, "length": 191, "protein_name": "Rho-related GTP-binding protein RhoH", "gene_name": "RHOH", "organism": "Human", "refseq_name": "rho-related GTP-binding protein RhoH precursor", "refseq_ac": [ { "id": "NP_001265288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265288", "type": "external" } ], "gene_names_uniprotkb": "RHOH; ARHH; TTF", "gene_names_refseq": "ARHH; IMD129; RHOH; TTF", "protein_names_uniprotkb": "Rho-related GTP-binding protein RhoH; 3.6.5.2; GTP-binding protein TTF; Translocation three four protein", "protein_names_refseq": "GTP-binding protein TTF; TTF, translocation three four; ras homolog gene family, member H; rho-related GTP-binding protein RhoH precursor; rho-related GTP-binding protein RhoH", "tax_id": 9606, "disease": "immunodeficiency 129 (Disease Ontology:DOID:0061094)", "pathway": " (hsa:399); (R-HSA-9013407)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "11237011;11368848;11809807;15563831;17028588;17064668;19414807;20184954;20851766;22850876;25418920;25880248;26375851;26929215;26992070;28063628;28228285;28832583;28904123;29242379;29393594;29485866;29510700;29632046;30315122;31204928;31217245;31844290;31871319;31998317;32265295;32357974;32959187;33298915;33912179;33936100;34357683;7784061", "class_list": "", "function": "5' end heterogeneity of RhoH mRNAs was observed, due to alternative splicing of some 5' exons and to the use of these different transcription start sites., [RefSeq, PubMed]; In AML, RhoH expression negatively correlates with recurrence rate, which can be used as a prognostic indicator independently, [RefSeq, PubMed]; Negative regulator of hematopoietic progenitor cell proliferation, survival and migration. Critical regulator of thymocyte development and T-cell antigen receptor (TCR) signaling by mediating recruitment and activation of ZAP70. Required for phosphorylation of CD3Z, membrane translocation of ZAP70 and subsequent activation of the ZAP70-mediated pathways. Essential for efficient beta-selection and positive selection by promoting the ZAP70-dependent phosphorylation of the LAT signalosome during pre-TCR and TCR signaling. Crucial for thymocyte maturation during DN3 to DN4 transition and during positive selection. Plays critical roles in mast cell function by facilitating phosphorylation of SYK in Fc epsilon RI-mediated signal transduction. Essential for the phosphorylation of LAT, LCP2, PLCG1 and PLCG2 and for Ca(2+) mobilization in mast cells (By similarity). Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins. Inhibits the activation of NF-kappa-B by TNF and IKKB and the activation of CRK/p38 by TNF. Inhibits activities of RAC1, RHOA and CDC42. Negatively regulates leukotriene production in neutrophils., [UniProtKB, PubMed, PubMed, PubMed]; RhoH promotes prostate cancer cell migration and RhoH expression levels correlate with prostate cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkin's lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5' untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013]., [RefSeq]; Weighted gene co-expression network analysis identifies RHOH and TRAF1 as key candidate genes for psoriatic arthritis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "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": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "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:0005095 GTPase inhibitor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0001772 immunological synapse", "go_biological_process": "GO:0007015 actin filament organization;GO:0007165 signal transduction;GO:0006355 regulation of DNA-templated transcription;GO:0007264 small GTPase-mediated signal transduction;GO:0043124 negative regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q15669-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EX2-1", "uniprot_id": [ { "id": "RNFT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EX2", "type": "external" } ], "mass": 48965.0, "length": 444, "protein_name": "E3 ubiquitin-protein ligase RNFT2", "gene_name": "RNFT2", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNFT2 isoform 1", "refseq_ac": [ { "id": "NP_001103373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103373", "type": "external" } ], "gene_names_uniprotkb": "RNFT2; TMEM118", "gene_names_refseq": "RNFT2; TMEM118", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNFT2; RING finger and transmembrane domain-containing protein 2; Transmembrane protein 118", "protein_names_refseq": "E3 ubiquitin-protein ligase RNFT2 isoform 1; E3 ubiquitin-protein ligase RNFT2; RING finger and transmembrane domain-containing protein 2; transmembrane protein 118", "tax_id": 9606, "disease": "", "pathway": " (hsa:84900)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;22424782;24366607;24715725;25892735;26992070;27600516;27846572;27920218;28228285;28649982;28832583;28834231;29242379;29393594;29557506;29632046;29769354;30315122;30410026;31154438;31530632;31844290;31937595;31990690;32157095;32265295;32350084;32502341;32938616;33298915;33517265;33717175;33936100;33968037;34357683;35051231;36581221", "class_list": "", "function": "E3 ubiquitin-protein ligase that negatively regulates IL3-dependent cellular responses through IL3RA ubiquitination and degradation by the proteasome, having an anti-inflammatory effect., [UniProtKB, PubMed]; The RNFT2/IL-3Ralpha axis regulates IL-3 signaling and innate immunity. Publication Status: Online-Only, [RefSeq, PubMed]; Tissue RNFT2 Expression Levels Are Associated With Peritoneal Recurrence and Poor Prognosis in Gastric Cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PAM7;Q96SU5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:1904294 positive regulation of ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q96EX2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6M0-1", "uniprot_id": [ { "id": "OTU6B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6M0", "type": "external" } ], "mass": 33813.0, "length": 293, "protein_name": "Deubiquitinase OTUD6B", "gene_name": "OTUD6B", "organism": "Human", "refseq_name": "deubiquitinase OTUD6B isoform 2", "refseq_ac": [ { "id": "NP_001273674", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273674", "type": "external" } ], "gene_names_uniprotkb": "OTUD6B; CGI-77; DUBA5", "gene_names_refseq": "CGI-77; DUBA-5; DUBA5; IDDFSDA; OTUD6B", "protein_names_uniprotkb": "Deubiquitinase OTUD6B; 3.4.19.12; DUBA-5; OTU domain-containing protein 6B", "protein_names_refseq": "OTU domain containing 6B; OTU domain-containing protein 6B; deubiquitinase OTUD6B isoform 2; deubiquitinase OTUD6B", "tax_id": 9606, "disease": "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (MONDO:MONDO:0044319)", "pathway": " (hsa:51633)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;21267069;23301498;23827681;24715725;25576301;26992070;27864334;28228285;28343629;28832583;28834231;29242379;30315122;30524438;30779550;31154438;31844290;32161166;32350084;32897882;33912179;33981976;34357683;36241641;37634410;37650650;38878112;38880876;39192576", "class_list": "", "function": "Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1 (PubMed:21267069, PubMed:27864334). May associate with the protein synthesis initiation complex and modify its ubiquitination to repress translation (PubMed:27864334). May also repress DNA synthesis and modify different cellular targets thereby regulating cell growth and proliferation (PubMed:27864334). May also play a role in proteasome assembly and function (PubMed:28343629)., [UniProtKB, PubMed, PubMed, PubMed]; Down-regulation of Otud-6b expression after prolonged cytokine stimulation may be required for cell proliferation in B lymphocytes Publication Status: Online-Only, [RefSeq, PubMed]; Human OTUD6B positively regulates type I IFN antiviral innate immune responses by deubiquitinating and stabilizing IRF3., [RefSeq, PubMed]; MCTS1 enhances the proliferation of laryngeal squamous cell carcinoma via promoting OTUD6B-1 mediated LIN28B deubiquitination., [RefSeq, PubMed]; OTUD6B encodes a deubiquitinating enzyme; study reports biallelic pathogenic variants in OTUD6B in 12 individuals from 6 families with intellectual disability syndrome associated with seizures & dysmorphic features; other features include developmental delay, microcephaly, absent speech, hypotonia, growth retardation, feeding difficulties, structural brain abnormalities, malformations of heart & musculoskeleton., [RefSeq, PubMed]; OTUD6B promotes cholangiocarcinoma growth by regulating STAT3 phosphorylation through deubiquitination of PTK2., [RefSeq, PubMed]; Otud6b induces pulmonary arterial hypertension by mediating the Calpain-1/HIF-1alpha signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Stimulates protein synthesis. Influences the expression of CCND1/cyclin D1 by promoting its translation and regulates MYC/c-Myc protein stability., [UniProtKB, PubMed]; The deubiquitinating protein OTUD6B promotes lung adenocarcinoma progression by stabilizing RIPK1. Publication Status: Online-Only, [RefSeq, PubMed]; The global OTUD6B expression level does not change significantly between nonneoplastic and malignant tissues, suggesting that modifications of splicing factors during the process of transformation are responsible for this isoform switch., [RefSeq, PubMed]; This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K6I1;B4DEY0;Q9NTA4;Q9Y387", "ec_number_list": [], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "", "go_biological_process": "GO:0006508 proteolysis;GO:0008283 cell population proliferation;GO:0016579 protein deubiquitination;GO:0017148 negative regulation of translation;GO:0045727 positive regulation of translation", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8N6M0-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M2E3-1", "uniprot_id": [ { "id": "ODFP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M2E3", "type": "external" } ], "mass": 29233.0, "length": 257, "protein_name": "Outer dense fiber protein 4", "gene_name": "ODF4", "organism": "Human", "refseq_name": "outer dense fiber protein 4 isoform 1", "refseq_ac": [ { "id": "NP_694552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694552", "type": "external" } ], "gene_names_uniprotkb": "ODF4; OPPO1", "gene_names_refseq": "CT134; CT136; ODF4; OPPO1", "protein_names_uniprotkb": "Outer dense fiber protein 4; Outer dense fiber of sperm tails protein 4; Testis-specific protein oppo 1; hOPPO1", "protein_names_refseq": "cancer/testis antigen 134; cancer/testis antigen 136; hOPPO1; outer dense fiber 4; outer dense fiber of sperm tails protein 4; outer dense fiber protein 4 isoform 1; outer dense fiber protein 4; testis-specific protein oppo 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:146852)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;12728016;22588436;23096689;29058301;31154438;34087483", "class_list": "", "function": "Component of the outer dense fibers (ODF) of spermatozoa which could be involved in sperm tail structure, sperm movement and general organization of cellular cytoskeleton., [UniProtKB]; Genomic structure has evolved independently of mouse, whereas functional structure is well-conserved, [RefSeq, PubMed]; High ODF4 expression is associated with Transitional Cell Carcinoma of Bladder., [RefSeq, PubMed]; ODF4 is a cancer-testis (CT) gene useful for detection of CML. It was expressed in 30% of CML patients but not in any of the healthy donors., [RefSeq, PubMed]; This gene encodes a protein that is localized in the outer dense fibers of the tails of mature sperm. This protein is thought to have some important role in the sperm tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]; Two alternative splice variants of ODF3 and ODF4, were found. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q8J021", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q2M2E3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P83881-1", "uniprot_id": [ { "id": "RL36A_HUMAN", "url": "https://www.uniprot.org/uniprot/P83881", "type": "external" } ], "mass": 12441.0, "length": 106, "protein_name": "Large ribosomal subunit protein eL42", "gene_name": "RPL36A", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL42", "refseq_ac": [ { "id": "NP_066357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066357", "type": "external" } ], "gene_names_uniprotkb": "RPL36A; GIG15; MIG6; RPL44", "gene_names_refseq": "L36A; L44L; MIG6; RPL36A; RPL44; eL42", "protein_names_uniprotkb": "Large ribosomal subunit protein eL42; 60S ribosomal protein L36a; 60S ribosomal protein L44; Cell growth-inhibiting gene 15 protein; Cell migration-inducing gene 6 protein", "protein_names_refseq": "60S ribosomal protein L44; L44-like ribosomal protein; cell growth-inhibiting gene 15 protein; cell migration-inducing gene 6 protein; dJ164F3.3 (ribosomal protein L44); large ribosomal subunit protein eL42", "tax_id": 9606, "disease": "", "pathway": " (hsa:6173); (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": 213, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21740066;22072790;22190735;22195017;22916032;23085078;23217742;23234702;23269699;23439679;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24715725;25132172;25242263;25469497;25525153;25578875;25969445;26237581;26992070;27526673;27846572;28065601;28132843;28510447;28685749;28834231;29413899;29493099;29632312;30244831;30249105;30293783;30484775;30804176;31011209;31844290;32099016;32157095;32387766;32579943;32669547;32897882;32938616;32983136;33091337;33141586;33392160;33406423;33592498;33909987;33912179;33981976;34185709;34229054;34509645;34561969;35051231;35138101;35318648;35561310;35580925;36215666;36284347;36302773;36547692;37676773;38665916;40930100;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9110171;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, PubMed, PubMed]; Coupled folding-upon-binding of human tumor suppressor MIG6 to lung cancer EGFR kinase domain and molecular trimming/stapling of MIG6-derived beta-hairpins to target the coupling event., [RefSeq, PubMed]; Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes 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. Although this gene has been referred to as ribosomal protein L44 (RPL44), its official name is ribosomal protein L36a (RPL36A). This gene and the human gene officially named ribosomal protein L36a-like (RPL36AL) encode nearly identical proteins; however, they are distinct genes. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Naturally occurring read-through transcription occurs between this locus and the heterogeneous nuclear ribonucleoprotein H2 (H') gene. [provided by RefSeq, Jan 2011]., [RefSeq]; MiR-589-5p facilitated the growth of liver cancer cells by targeting MIG-6 and could be a prognosis biomarker for hepatocellular carcinoma, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "P09896;P10661;Q08ES5;Q5J9I6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005840 ribosome;GO:0022626 cytosolic ribosome", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "P83881-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4A3-1", "uniprot_id": [ { "id": "WNK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4A3", "type": "external" } ], "mass": 250794.0, "length": 2382, "protein_name": "Serine/threonine-protein kinase WNK1", "gene_name": "WNK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase WNK1 isoform 4", "refseq_ac": [ { "id": "NP_001171914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171914", "type": "external" } ], "gene_names_uniprotkb": "WNK1; HSN2; KDP; KIAA0344; PRKWNK1", "gene_names_refseq": "HSAN2; HSN2; KDP; PPP1R167; PRKWNK1; PSK; WNK1; p65", "protein_names_uniprotkb": "Serine/threonine-protein kinase WNK1; 2.7.11.1; Erythrocyte 65 kDa protein; Kinase deficient protein; Protein kinase lysine-deficient 1; Protein kinase with no lysine 1; hWNK1; p65", "protein_names_refseq": "erythrocyte 65 kDa protein; prostate-derived sterile 20-like kinase; protein kinase with no lysine 1; protein phosphatase 1, regulatory subunit 167; serine/threonine-protein kinase WNK1 1; serine/threonine-protein kinase WNK1 2; serine/threonine-protein kinase WNK1 isoform 4", "tax_id": 9606, "disease": "hereditary sensory and autonomic neuropathy (Disease Ontology:DOID:0050548); hereditary sensory and autonomic neuropathy type 2A (Disease Ontology:DOID:0070155); hypertension (Disease Ontology:DOID:10763); transient cerebral ischemia (Disease Ontology:DOID:224); pseudohypoaldosteronism (Disease Ontology:DOID:4479); pseudohypoaldosteronism type 2C (MONDO:MONDO:0013778)", "pathway": " (hsa:65125); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 259, "publication_id_list": "10564087;10642508;10660600;10720933;10767424;10830164;10831588;11182090;11237011;11498583;11571656;11588175;11687798;11734858;11842292;11904445;11956057;12374799;12393854;12907679;1379744;14584882;14611643;14634667;14645531;15010458;15044642;15060842;15147738;15318163;15504734;15505377;15883153;15911806;15916532;15919655;16081417;16219661;16263722;1647397;16813530;16832045;16849430;16850186;16959974;16964243;17081983;17190791;17344846;17381423;17448995;17699613;17881003;18000046;18063579;18220336;18270262;18310267;18400985;18449189;18508966;18521183;18662336;18669648;18724360;19153159;19307298;19347040;19380724;19387438;19620632;19665974;19690332;19739668;19808995;19953639;20068231;20305658;20388639;20466723;20525693;20538786;21040849;21220314;21321328;21355052;21406692;21527911;21740066;21984732;22002868;22032326;22661428;22701532;22773952;22934535;22946059;2298749;22989884;23112050;23186163;2321095;23301498;23387299;23481700;23576762;23616951;23838290;24275569;24366607;24714562;24715725;24803536;2507249;25362046;2536303;25418920;25477473;25576301;25645385;25810538;25880248;26154972;26359375;26375851;26562072;26811146;26992070;27600516;27655845;27712055;27846572;27862975;27869121;27911840;27920218;28063628;28071645;28154142;28228285;28514659;28657654;28771350;28790369;28832583;28834231;28904123;29176664;29196535;29237092;29242379;29249144;29351928;29393594;29437277;29493099;29508533;29557506;29581290;29632046;29632711;29786170;29789417;29930759;30059200;30315122;30379171;30397120;30410026;30429286;30484775;30620550;31092671;31154438;31217245;31373491;31492838;31656913;31844290;32119511;32157095;32265295;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33936100;33964204;33968037;33981976;34019948;34171305;34289367;34357683;34509645;34561969;34725712;34846842;34932366;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35561310;35580925;35705054;36010968;36215666;36240223;36241641;36284347;36318922;36373794;37340703;37541260;37938771;38599542;38665916;38838015;38885324;39302247;39531497;39534244;40136647;40307207;41350704;7588753;7665160;7795595;8041726;8112288;8383669;8528245;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Data indicates that multiple rare and common WNK1 variants contribute to BP variation and hypertension, and provide compelling evidence to initiate further genetic and functional studies to explore the role of WNK1 in BP regulation and EH GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; HSN2 is a nervous system-specific exon of the WNK1 gene (WNK1/HSN2 isoform)., [RefSeq, PubMed]; Kinase-defective isoform specifically expressed in kidney, which acts as a dominant-negative regulator of the longer isoform 1 (PubMed:14645531). Does not directly inhibit WNK4 and has no direct effect on sodium and chloride ion transport (By similarity). Down-regulates sodium-chloride cotransporter activity indirectly by inhibiting isoform 1, it associates with isoform 1 and attenuates its kinase activity (By similarity). In kidney, may play an important role regulating sodium and potassium balance (By similarity)., [UniProtKB, UniProtKB, PubMed]; Serine/threonine-protein kinase component of the WNK1-SPAK/OSR1 kinase cascade, which acts as a key regulator of blood pressure and regulatory volume increase by promoting ion influx (PubMed:15883153, PubMed:17190791, PubMed:31656913, PubMed:34289367, PubMed:36318922). WNK1 mediates regulatory volume increase in response to hyperosmotic stress by acting as a molecular crowding sensor, which senses cell shrinkage and mediates formation of a membraneless compartment by undergoing liquid-liquid phase separation (PubMed:36318922). The membraneless compartment concentrates WNK1 with its substrates, OXSR1/OSR1 and STK39/SPAK, promoting WNK1-dependent phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK (PubMed:15883153, PubMed:16263722, PubMed:17190791, PubMed:19739668, PubMed:21321328, PubMed:22989884, PubMed:25477473, PubMed:34289367, PubMed:36318922). Following activation, OXSR1/OSR1 and STK39/SPAK catalyze phosphorylation of ion cotransporters SLC12A1/NKCC2, SLC12A2/NKCC1, SLC12A5/KCC2 and SLC12A6/KCC3, regulating their activity (PubMed:16263722, PubMed:21321328). Phosphorylation of Na-K-Cl cotransporters SLC12A2/NKCC1 and SLC12A2/NKCC1 promote their activation and ion influx; simultaneously, phosphorylation of K-Cl cotransporters SLC12A5/KCC2 and SLC12A6/KCC3 inhibit their activity, blocking ion efflux (PubMed:19665974, PubMed:21321328). Also acts as a regulator of angiogenesis in endothelial cells via activation of OXSR1/OSR1 and STK39/SPAK: activation of OXSR1/OSR1 regulates chemotaxis and invasion, while STK39/SPAK regulates endothelial cell proliferation (PubMed:25362046). Also acts independently of the WNK1-SPAK/OSR1 kinase cascade by catalyzing phosphorylation of other substrates, such as SYT2, PCF11 and NEDD4L (PubMed:29196535). Mediates phosphorylation of SYT2, regulating SYT2 association with phospholipids and membrane-binding (By similarity). Regulates mRNA export in the nucleus by mediating phosphorylation of PCF11, thereby decreasing the association between PCF11 and POLR2A/RNA polymerase II and promoting mRNA export to the cytoplasm (PubMed:29196535). Acts as a negative regulator of autophagy (PubMed:27911840). Required for the abscission step during mitosis, independently of the WNK1-SPAK/OSR1 kinase cascade (PubMed:21220314). May also play a role in actin cytoskeletal reorganization (PubMed:10660600). Also acts as a scaffold protein independently of its protein kinase activity: negatively regulates cell membrane localization of various transporters and channels, such as SLC4A4, SLC26A6, SLC26A9, TRPV4 and CFTR (By similarity). Involved in the regulation of epithelial Na(+) channel (ENaC) by promoting activation of SGK1 in a kinase-independent manner: probably acts as a scaffold protein that promotes the recruitment of SGK1 to the mTORC2 complex in response to chloride, leading to mTORC2-dependent phosphorylation and activation of SGK1 (PubMed:36373794). Acts as an assembly factor for the ER membrane protein complex independently of its protein kinase activity: associates with EMC2 in the cytoplasm via its amphipathic alpha-helix, and prevents EMC2 ubiquitination and subsequent degradation, thereby promoting EMC2 stabilization (PubMed:33964204)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The CREB1/WNK1 axis promotes the tumorigenesis of ovarian cancer via regulating HIF-1., [RefSeq, PubMed]; This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]., [RefSeq]; WNK1 Interaction with KEAP1 Promotes NRF2 Stabilization to Enhance the Oxidative Stress Response in Hepatocellular Carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 70, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 70, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 70, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 27, "reported_mutagensis": 53, "reported_glycation": 0, "reported_snv": 127, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 72, "binding_glycan_count": 0, "secondary_ac_list": "A1L4B0;C5HTZ5;C5HTZ6;C5HTZ7;H6WZW3;O15052;P54963;Q4VBX9;Q6IFS5;Q86WL5;Q8N673;Q96CZ6;Q9P1S9", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0030295 protein kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:1990869 cellular response to chemokine;GO:0030644 intracellular chloride ion homeostasis;GO:0033633 negative regulation of cell-cell adhesion mediated by integrin;GO:0006468 protein phosphorylation;GO:0006811 monoatomic ion transport", "synthesized_glycan_count": 0, "hit_score": 33.2, "record_id": "Q9H4A3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N543-1", "uniprot_id": [ { "id": "OGFD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N543", "type": "external" } ], "mass": 63246.0, "length": 542, "protein_name": "Prolyl 3-hydroxylase OGFOD1", "gene_name": "OGFOD1", "organism": "Human", "refseq_name": "prolyl 3-hydroxylase OGFOD1 isoform 5", "refseq_ac": [ { "id": "NP_001311291", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311291", "type": "external" } ], "gene_names_uniprotkb": "OGFOD1; KIAA1612; TPA1", "gene_names_refseq": "OGFOD1; TPA1", "protein_names_uniprotkb": "Prolyl 3-hydroxylase OGFOD1; 1.14.11.-; 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 1; Termination and polyadenylation 1 homolog; uS12 prolyl 3-hydroxylase", "protein_names_refseq": "2-oxoglutarate and iron-dependent oxygenase domain-containing protein 1; TPA1, termination and polyadenylation 1, homolog; prolyl 3-hydroxylase OGFOD1 isoform 5; prolyl 3-hydroxylase OGFOD1; termination and polyadenylation 1 homolog; uS12 prolyl 3-hydroxylase", "tax_id": 9606, "disease": "", "pathway": " (hsa:55239); (R-HSA-9629569)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "11237011;1378441;15676025;17947579;1856229;19574390;19819225;20154146;20579638;20684070;21060799;22002106;22645359;22851697;23103944;23303181;24100311;24366607;24397554;24486019;24550447;24550462;24550463;24714562;24715725;25576301;25728928;25880248;25909288;26024233;26811146;26929215;26992070;27846572;28510447;28904123;29437277;29493099;29557506;29563586;29914368;29915238;30315122;30410026;30429286;30484775;31112528;31844290;32002629;32157095;32357974;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33633747;33717175;33912179;33968037;33981976;34171305;34561969;35051231;35318648;35580925;36010968;36215666;36241641;37084634;37938771;40914422;6688526", "class_list": "", "function": "Data suggest that OGFOD1 plays important proapoptotic roles in the regulation of translation and HRI-mediated phosphorylation of eIF2alpha in cells subjected to arsenite-induced stress., [RefSeq, PubMed]; High OGFOD1 expression is associated with papillomavirus-infected laryngeal papillomas., [RefSeq, PubMed]; OGFOD1 catalyzes prolyl hydroxylation of RPS23 and is involved in translation control and stress granule formation., [RefSeq, PubMed]; OGFOD1 modulates the transcriptional and proteomic landscapes to alter isoproterenol-induced hypertrophy susceptibility., [RefSeq, PubMed]; OGFOD1 plays an important role in ischemic cell survival and an OGFOD1 iron binding residue is required for ATPAF1 gene expression., [RefSeq, PubMed]; Prolyl 3-hydroxylase that catalyzes 3-hydroxylation of 'Pro-62' of small ribosomal subunit uS12 (RPS23), thereby regulating protein translation termination efficiency. Involved in stress granule formation., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Propose that OGFOD1 is required for breast cancer cell proliferation and is associated with poor prognosis in breast cancer., [RefSeq, PubMed]; The ribosomal prolyl-hydroxylase OGFOD1 decreases during cardiac differentiation and modulates translation and splicing. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "H3BUQ2;Q9H7U5;Q9H9J9;Q9HA87;Q9HCG0;Q9NVB6", "ec_number_list": [ { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0031418 L-ascorbic acid binding;GO:0031543 peptidyl-proline dioxygenase activity;GO:0031544 peptidyl-proline 3-dioxygenase activity;GO:0016706 2-oxoglutarate-dependent dioxygenase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0006449 regulation of translational termination;GO:0008283 cell population proliferation;GO:0034063 stress granule assembly;GO:0019511 peptidyl-proline hydroxylation;GO:0018126 protein hydroxylation", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q8N543-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q63HM2-1", "uniprot_id": [ { "id": "PCX4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q63HM2", "type": "external" } ], "mass": 132702.0, "length": 1172, "protein_name": "Pecanex-like protein 4", "gene_name": "PCNX4", "organism": "Human", "refseq_name": "pecanex-like protein 4 isoform 2", "refseq_ac": [ { "id": "NP_071940", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071940", "type": "external" } ], "gene_names_uniprotkb": "PCNX4; C14orf135; FBP2; PCNXL4", "gene_names_refseq": "C14orf135; PCNX4; PCNXL4", "protein_names_uniprotkb": "Pecanex-like protein 4; HCV F protein-binding protein 2; Hepatitis C virus F protein-binding protein 2; Pecanex homolog protein 4", "protein_names_refseq": "HCV F protein-binding protein 2; HCV F-interacting protein; hepatitis C virus F protein-binding protein 2; pecanex homolog 4; pecanex homolog protein 4; pecanex-like 4; pecanex-like protein 4 isoform 2; pecanex-like protein 4; pecanex-like protein C14orf135", "tax_id": 9606, "disease": "", "pathway": " (hsa:64430)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11230166;11237011;23481700;26154972;27397612;28218747;28228285;28514659;28904123;29242379;29437277;29557506;29769354;29789417;30315122;30484775;31154438;31217245;31844290;31937595;32157095;32161166;32357974;32387766;32488085;32938616;33141586;33298915;33392160;33912179;33968037;34171305;34357683;34405274;34509645;35051231;36010968;37340703", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8MXM2;Q9BQG8;Q9H9F2", "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": "Q63HM2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DU9-1", "uniprot_id": [ { "id": "PABP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DU9", "type": "external" } ], "mass": 43331.0, "length": 382, "protein_name": "Polyadenylate-binding protein 5", "gene_name": "PABPC5", "organism": "Human", "refseq_name": "polyadenylate-binding protein 5", "refseq_ac": [ { "id": "NP_543022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543022", "type": "external" } ], "gene_names_uniprotkb": "PABPC5; PABP5", "gene_names_refseq": "PABP5; PABPC5", "protein_names_uniprotkb": "Polyadenylate-binding protein 5; PABP-5; Poly(A)-binding protein 5", "protein_names_refseq": "polyadenylate-binding protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:140886)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;11374897;19664995;23275553;23300856;25418920;29557506;32157095;32938616;33298915;36010968;36241641;37938771", "class_list": "", "function": "Although function of PABPN1 may be compensated by nuclear translocation of PABP4 and perhaps by increase the cytoplasmic abundance of PABP5, these were not sufficient to prevent apoptosis of cells. PABPN1 may have an anti apoptotic role in mammalian cells, [RefSeq, PubMed]; Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo (By similarity)., [UniProtKB]; This gene encodes a protein that binds to the polyA tail found at the 3' end of most eukaryotic mRNAs. It is thought to play a role in the regulation of mRNA metabolic processes in the cytoplasm. This gene is located in a gene-poor region within the X-specific 13d-sY43 subinterval of the chromosome Xq21.3/Yp11.2 homology block. It is located close to translocation breakpoints associated with premature ovarian failure, and is therefore a potential candidate gene for this disorder. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K240;Q5JQF4;Q6P529;Q9UFE5", "ec_number_list": [], "go_molecular_function": "GO:0003730 mRNA 3'-UTR binding;GO:0008143 poly(A) binding;GO:0008266 poly(U) RNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0010494 cytoplasmic stress granule;GO:1990904 ribonucleoprotein complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96DU9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19484-1", "uniprot_id": [ { "id": "TFEB_HUMAN", "url": "https://www.uniprot.org/uniprot/P19484", "type": "external" } ], "mass": 52865.0, "length": 476, "protein_name": "Transcription factor EB", "gene_name": "TFEB", "organism": "Human", "refseq_name": "transcription factor EB isoform 3", "refseq_ac": [ { "id": "NP_001258872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258872", "type": "external" } ], "gene_names_uniprotkb": "TFEB; BHLHE35", "gene_names_refseq": "ALPHATFEB; BHLHE35; TCFEB; TFEB", "protein_names_uniprotkb": "Transcription factor EB; Class E basic helix-loop-helix protein 35; bHLHe35", "protein_names_refseq": "T-cell transcription factor EB; class E basic helix-loop-helix protein 35; transcription factor EB isoform 3", "tax_id": 9606, "disease": "lysosomal storage disease (Disease Ontology:DOID:3211)", "pathway": " (hsa:7942); (R-HSA-9856649); (R-HSA-9931510)", "pathway_count": 3, "publication_count": 157, "publication_id_list": "10.1101/2023.09.13.557529;10567402;10611221;10655586;10673502;10857746;11027551;11237011;11840323;11891324;11912130;11930005;12719541;14750904;14975237;15118077;15226305;15507434;16014379;16034366;16822840;1698554;1748288;17623675;17994337;18317514;18644867;18669648;19524539;19556463;19608861;19651622;19690332;1971514;20058876;20068231;20460180;2115126;21486943;21617040;21804531;21965087;22343943;22576015;22647378;22692423;23159739;23186163;23190890;23207919;23401004;23434374;23481700;23599343;23783831;24081491;24715725;25248477;25418920;25576301;25595898;25720963;25892735;26154972;26240184;26375851;26992070;27128622;27184844;27278822;27600516;27846572;27920218;28055300;28394346;28552616;28649982;28832583;28834231;28904123;29146937;29242379;29295999;29393594;29485866;29507340;29557506;29632046;29689560;29992949;30120233;30410026;30804224;30833945;30979895;31112550;31154438;31217245;31404503;31413743;31519738;31672913;31717697;31750630;31844290;32037305;32157095;32208437;32357974;32387766;32502341;32612235;32622269;32636443;32662822;32753672;32881934;32897882;32938616;32983136;33163944;33318473;33592498;33633747;33691586;33717175;33744299;33912179;34140478;34171305;34405859;34932366;35051231;35580925;35662396;36010968;36697823;36749723;37057673;37079666;37770430;37938771;38968109;39054068;39181195;39196068;39214303;5338216;7958932;8336698;9199364;9353119;9440696;9560246;9676189;9760192;9973413", "class_list": "", "function": "Lactylation stabilizes TFEB to elevate autophagy and lysosomal activity., [RefSeq, PubMed]; Overexpression of RBM4 promotes acute myeloid leukemia cell differentiation by regulating alternative splicing of TFEB., [RefSeq, PubMed]; TFEB alleviates periodontitis by activating autophagy and inhibiting inflammation., [RefSeq, PubMed]; TFEB safeguards trophoblast syncytialization in humans and mice., [RefSeq, PubMed]; TFEB/3 Govern Repair Schwann Cell Generation and Function Following Peripheral Nerve Injury. Publication Status: Online-Only, [RefSeq, PubMed]; This gene fuses with an intronless gene in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation., [RefSeq, PubMed]; Transcription factor that acts as a master regulator of lysosomal biogenesis, autophagy, lysosomal exocytosis, lipid catabolism, energy metabolism and immune response (PubMed:21617040, PubMed:22343943, PubMed:22576015, PubMed:22692423, PubMed:25720963, PubMed:30120233, PubMed:31672913, PubMed:32612235, PubMed:32753672, PubMed:35662396, PubMed:36697823, PubMed:36749723, PubMed:37079666). Specifically recognizes and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFE3 or MITF (PubMed:1748288, PubMed:19556463, PubMed:29146937). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFEB phosphorylation by MTOR promotes its cytosolic retention and subsequent inactivation (PubMed:21617040, PubMed:22343943, PubMed:22576015, PubMed:22692423, PubMed:25720963, PubMed:32612235, PubMed:32753672, PubMed:35662396, PubMed:36697823). Upon starvation or lysosomal stress, inhibition of MTOR induces TFEB dephosphorylation, resulting in nuclear localization and transcription factor activity (PubMed:22343943, PubMed:22576015, PubMed:22692423, PubMed:25720963, PubMed:32612235, PubMed:32753672, PubMed:35662396, PubMed:36697823). Specifically recognizes and binds the CLEAR-box sequence (5'-GTCACGTGAC-3') present in the regulatory region of many lysosomal genes, leading to activate their expression, thereby playing a central role in expression of lysosomal genes (PubMed:19556463, PubMed:22692423). Regulates lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 (PubMed:29146937). Acts as a positive regulator of autophagy by promoting expression of genes involved in autophagy (PubMed:21617040, PubMed:22576015, PubMed:23434374, PubMed:27278822). In association with TFE3, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity (By similarity). Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer (PubMed:2115126). Plays a role in the signal transduction processes required for normal vascularization of the placenta (By similarity). Involved in the immune response to infection by the bacteria S.aureus, S.typhimurium or S.enterica: infection promotes itaconate production, leading to alkylation, resulting in nuclear localization and transcription factor activity (PubMed:35662396). Itaconate-mediated alkylation activates TFEB-dependent lysosomal biogenesis, facilitating the bacteria clearance during the antibacterial innate immune response (PubMed:35662396). In association with ACSS2, promotes the expression of genes involved in lysosome biogenesis and both autophagy upon glucose deprivation (PubMed:28552616)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 34, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q709B3;Q7Z6P9;Q9BRJ5;Q9UJD8", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0019899 enzyme binding;GO:0046982 protein heterodimerization activity;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005765 lysosomal membrane;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0050829 defense response to Gram-negative bacterium;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "P19484-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY57-1", "uniprot_id": [ { "id": "YAF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY57", "type": "external" } ], "mass": 19901.0, "length": 180, "protein_name": "YY1-associated factor 2", "gene_name": "YAF2", "organism": "Human", "refseq_name": "YY1-associated factor 2 isoform 3", "refseq_ac": [ { "id": "NP_001177906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177906", "type": "external" } ], "gene_names_uniprotkb": "YAF2", "gene_names_refseq": "YAF2", "protein_names_uniprotkb": "YY1-associated factor 2", "protein_names_refseq": "YY1-associated factor 2 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10138); (R-HSA-8939243); (R-HSA-8953750)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "11171983;11237011;11593398;11953439;12004135;12706874;12909625;15014447;15536069;16917507;17001316;17081983;17525332;17600109;18562691;18669648;18695000;19690332;20068231;20506188;21596310;22325351;23481700;23954429;24627085;24715725;25576301;26154972;27920218;28832583;28904123;29242379;29351928;29508533;29557506;29632711;31844290;32488085;32502341;33141586;33298915;33784512;33936100;34211107;40596516;7623816;9016636;9501179;9689056;9704927", "class_list": "", "function": "Binds to MYC and inhibits MYC-mediated transactivation. Also binds to MYCN and enhances MYCN-dependent transcriptional activation. Increases calpain 2-mediated proteolysis of YY1 in vitro. Component of the E2F6.com-1 complex, a repressive complex that methylates 'Lys-9' of histone H3, suggesting that it is involved in chromatin-remodeling., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a zinc finger containing protein that functions in the regulation of transcription. This protein was identified as an interacting partner of transcriptional repressor protein Yy1, and also interacts with other transcriptional regulators, including Myc and Polycomb. This protein can promote proteolysis of Yy1. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2016]., [RefSeq]; YAF2 exerts anti-apoptotic effect in human tumor cells in a FANK1- and phosphorylation-dependent manner., [RefSeq, PubMed]; YEAF1/RYBP and YAF-2 are functionally distinct members of a cofactor family for the YY1 and E4TF1/hGABP transcription factors., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K5P0;B4DFU3;G3V465;Q99710", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8IY57-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61353-1", "uniprot_id": [ { "id": "RL27_HUMAN", "url": "https://www.uniprot.org/uniprot/P61353", "type": "external" } ], "mass": 15798.0, "length": 136, "protein_name": "Large ribosomal subunit protein eL27", "gene_name": "RPL27", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL27", "refseq_ac": [ { "id": "NP_000979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000979", "type": "external" } ], "gene_names_uniprotkb": "RPL27", "gene_names_refseq": "DBA16; L27; RPL27; eL27", "protein_names_uniprotkb": "Large ribosomal subunit protein eL27; 60S ribosomal protein L27", "protein_names_refseq": "60S ribosomal protein L27; large ribosomal subunit protein eL27", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 16 (Disease Ontology:DOID:0111893)", "pathway": " (hsa:6155); (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": 279, "publication_id_list": "10203015;10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1400365;1448153;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;18566446;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20926688;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22121020;22190735;22195017;22645359;22916032;23085078;23217742;23234702;23269699;23439679;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24715725;25132172;25242263;25424902;25469497;25525153;25578875;25880248;25901680;25957688;25969445;26024233;26100019;26154972;26237581;26552660;26992070;27452731;27526673;27600516;27846572;27862975;27920218;28063628;28065601;28132843;28218747;28228285;28514659;28685749;28832583;28904123;29242379;29331515;29393594;29413899;29437277;29493099;29557506;29632046;29632312;29769354;29786170;30244831;30293783;30315122;30410026;30484775;30804176;30833945;31011209;31020640;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32099016;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32579943;32669547;32897882;32938616;32983136;33091337;33123756;33141586;33214551;33298915;33392160;33406423;33537174;33592498;33633747;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34078123;34171305;34185709;34357683;34509645;34561969;34932366;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302773;37217939;37387446;37676773;37812860;37938771;38665916;429297;592398;592399;641056;6568109;6901506;7990965;8148381;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Component of the large ribosomal subunit. Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs., [UniProtKB, UniProtKB]; Effect of RPL27 knockdown on the proliferation and apoptosis of human liver cancer cells., [RefSeq, PubMed]; RPL27 contributes to colorectal cancer proliferation and stemness via PLK1 signaling., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this gene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "P08526;Q4G0A9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 28.2, "record_id": "P61353-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKK9-1", "uniprot_id": [ { "id": "NUDT5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKK9", "type": "external" } ], "mass": 24328.0, "length": 219, "protein_name": "ADP-sugar pyrophosphatase", "gene_name": "NUDT5", "organism": "Human", "refseq_name": "ADP-sugar pyrophosphatase isoform 1", "refseq_ac": [ { "id": "NP_054861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054861", "type": "external" } ], "gene_names_uniprotkb": "NUDT5; HSPC115; NUDIX5", "gene_names_refseq": "NUDT5; YSA1H; YSA1; YSAH1; hNUDT5", "protein_names_uniprotkb": "ADP-sugar pyrophosphatase; 2.7.7.96; 3.6.1.13; 3.6.1.58; 8-oxo-dGDP phosphatase; Nuclear ATP-synthesis protein NUDIX5; Nucleoside diphosphate-linked moiety X motif 5; Nudix motif 5; YSA1H; hNUDT5", "protein_names_refseq": "8-oxo-dGDP phosphatase; ADP-sugar pyrophosphatase isoform 1; ADP-sugar pyrophosphatase; nuclear ATP-synthesis protein NUDIX5; nudix (nucleoside diphosphate linked moiety X)-type motif 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:11164); (R-HSA-2393930)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10567213;10722730;11237011;12717453;12767940;15592455;17052728;17567574;18462755;19413330;19608861;19699693;20068231;20385596;21389046;21406692;21768126;22223895;22556419;22905912;23186163;24366607;24714562;24715725;25505266;25576301;25692488;25802875;25880248;26768311;26992070;27257257;27600516;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29437277;29493099;29508533;29557506;29789417;30315122;30410026;30429286;30484775;30779550;31510016;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34357683;34561969;34725712;34932366;35008409;35051231;35247377;35251023;35318648;35561310;35580925;36010968;36215666;36241641;37156197;38317231;38635563;38716860", "class_list": "", "function": "Degrades 8-oxo-dGDP to 8-oxo-dGMP, an unusable form for DNA synthesis, and promotes the cleavage of 8-oxo-dGTP by MTH1 to yield 8-oxo-dGMP also, [RefSeq, PubMed]; Enzyme that can either act as an ADP-sugar pyrophosphatase in absence of diphosphate or catalyze the synthesis of ATP in presence of diphosphate (PubMed:27257257). In absence of diphosphate, hydrolyzes with similar activities various modified nucleoside diphosphates such as ADP-ribose, ADP-mannose, ADP-glucose, 8-oxo-GDP and 8-oxo-dGDP (PubMed:10567213, PubMed:10722730, PubMed:17052728, PubMed:12717453, PubMed:19699693, PubMed:21389046, PubMed:38635563). Can also hydrolyze other nucleotide sugars with low activity (PubMed:12717453, PubMed:19699693, PubMed:21389046). In presence of diphosphate, mediates the synthesis of ATP in the nucleus by catalyzing the conversion of ADP-ribose to ATP and ribose 5-phosphate. Nuclear ATP synthesis takes place when dephosphorylated at Thr-45 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). In vitro, it has decapping activity on 11-mer RNA capped with uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) by hydrolyzing the pyrophosphate bridge of the sugar cap (PubMed:38716860). Does not play a role in U8 snoRNA decapping (By similarity). Binds U8 snoRNA (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; NUDT5-Determines the fate of head and neck squamous cell carcinoma cells under endoplasmic reticulum stress by catalyzing nuclear ATP production to promote DNA repair., [RefSeq, PubMed]; Silencing of Nudix type 5 represses proliferation and invasion and enhances chemosensitivity of gastric carcinoma cells by affecting the AKT/GSK-3beta/beta-catenin pathway., [RefSeq, PubMed]; The novel phosphatase NUDT5 is a critical regulator of triple-negative breast cancer growth. Erratum:[Breast Cancer Res. 2024 Mar 26;26(1):53. doi: 10.1186/s13058-024-01814-9. PMID: 38532428] Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [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": 6, "reported_mutagensis": 10, "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": "A8K516;Q6IAG0;Q9UH49", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.13", "type": "external" }, { "id": "3.6.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.16", "type": "external" }, { "id": "3.6.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.53", "type": "external" }, { "id": "3.6.1.58", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.58", "type": "external" }, { "id": "3.6.1.68", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.68", "type": "external" }, { "id": "3.6.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.76", "type": "external" }, { "id": "2.7.7.96", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.96", "type": "external" } ], "go_molecular_function": "GO:0044715 8-oxo-dGDP phosphatase activity;GO:0019144 ADP-sugar diphosphatase activity;GO:0000287 magnesium ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0019693 ribose phosphate metabolic process;GO:0006338 chromatin remodeling;GO:0009117 nucleotide metabolic process;GO:1990966 ATP generation from poly-ADP-D-ribose;GO:0009191 ribonucleoside diphosphate catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9UKK9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14683-1", "uniprot_id": [ { "id": "P5I11_HUMAN", "url": "https://www.uniprot.org/uniprot/O14683", "type": "external" } ], "mass": 21054.0, "length": 189, "protein_name": "Tumor protein p53-inducible protein 11", "gene_name": "TP53I11", "organism": "Human", "refseq_name": "tumor protein p53-inducible protein 11 isoform a", "refseq_ac": [ { "id": "NP_001245249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245249", "type": "external" } ], "gene_names_uniprotkb": "TP53I11; PIG11", "gene_names_refseq": "PIG11; TP53I11", "protein_names_uniprotkb": "Tumor protein p53-inducible protein 11; p53-induced gene 11 protein", "protein_names_refseq": "p53-induced gene 11 protein; tumor protein p53-inducible protein 11 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:9537)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;12883691;15225615;16170329;17482569;18507432;19096915;19664994;19690332;20068231;20166139;21406692;26154972;27846572;27862975;29557506;30376610;30429286;30940320;31844290;32502341;32572880;32983136;33592498;33691108;34087483;34171305;35051231;35580925;36010968;36190397;36241641;37938771;38665916;39894887;9305847", "class_list": "", "function": "Findings showed that hypoxic treatment upregulated the expression of HIF1alpha, but reduced TP53I11 protein levels and TP53I11 overexpression reduced HIF1alpha expression under normal culture and hypoxicconditions, and in xenografts of MDA-MB-231 cells., [RefSeq, PubMed]; Jasmonates can circumvent drug resistance induced by p53 mutations., [RefSeq, PubMed]; MiR-645 promotes proliferation and migration of non-small cell lung cancer cells by targeting TP53I11., [RefSeq, PubMed]; Overexpression of PIG11 could induce cell apoptosis in the low levels and enhanced the apoptotic effects of arsenic trioxide, [RefSeq, PubMed]; Overexpression of hsa_circ_0006470 inhibits the malignant behavior of gastric cancer cells via regulation of miR-1234/TP53I11 axis. Publication Status: Online-Only, [RefSeq, PubMed]; PIG11 is considered to be a new candidate liver tumour suppressor gene., [RefSeq, PubMed]; PIG11 protein may play an important role by interaction with other biological molecules in the regulation of apoptosis and provided us a novel angel of view to explore the possible function of PIG11 in vivo., [RefSeq, PubMed]; PIG11, as a downstream target of p53, is involved in apoptosis of gastric cancer cells, [RefSeq, PubMed]; TP53I11 functions as a mediator to balance activation of AKT and AMPK to adapt cells to different cellular contexts such as extracellular matrix-attachment and -detachment., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3ZCS0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "O14683-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NKB5-1", "uniprot_id": [ { "id": "PCX2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NKB5", "type": "external" } ], "mass": 237277.0, "length": 2137, "protein_name": "Pecanex-like protein 2", "gene_name": "PCNX2", "organism": "Human", "refseq_name": "pecanex-like protein 2 isoform 1", "refseq_ac": [ { "id": "NP_055616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055616", "type": "external" } ], "gene_names_uniprotkb": "PCNX2; KIAA0435; PCNXL2", "gene_names_refseq": "PCNX2; PCNXL2", "protein_names_uniprotkb": "Pecanex-like protein 2; Pecanex homolog protein 2", "protein_names_refseq": "pecanex homolog 2; pecanex-like protein 2 isoform 1; pecanex-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:80003)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;12140758;14507650;19664994;25645385;28904123;29242379;29557506;29632711;31217245;31844290;31848261;32387766;32488085;32938616;33141586;33298915;33912179;33968037;34561969;34747634;35051231;36241641", "class_list": "", "function": "Genetic polymorphisms in the PCNXL2 gene are risk factors for thyroid cancer in the Chinese population., [RefSeq, PubMed]; Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with microsatellite instability., [RefSeq, PubMed]; May play a role in tumorigenesis of colorectal carcinomas with high microsatellite instability (MSI-H)., [UniProtKB, PubMed, PubMed]; This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 11, "predicted_n_glycosites": 11, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 76, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "O43162;Q5T9Z8;Q5TDF1;Q8TEP4;Q96HP9;Q9HAL8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "A6NKB5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15318-1", "uniprot_id": [ { "id": "RPC7_HUMAN", "url": "https://www.uniprot.org/uniprot/O15318", "type": "external" } ], "mass": 25914.0, "length": 223, "protein_name": "DNA-directed RNA polymerase III subunit RPC7", "gene_name": "POLR3G", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase III subunit RPC7 isoform 1", "refseq_ac": [ { "id": "NP_006458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006458", "type": "external" } ], "gene_names_uniprotkb": "POLR3G", "gene_names_refseq": "C31; POLR3G; RPC32; RPC7", "protein_names_uniprotkb": "DNA-directed RNA polymerase III subunit RPC7; DNA-directed RNA polymerase III subunit G; RNA polymerase III 32 kDa apha subunit; RNA polymerase III 32 kDa subunit; RNA polymerase III subunit C7; RPC32-alpha; RPC32", "protein_names_refseq": "DNA-directed RNA polymerase III 32 kDa polypeptide; DNA-directed RNA polymerase III subunit G; DNA-directed RNA polymerase III subunit RPC7 isoform 1; DNA-directed RNA polymerase III subunit RPC7; RNA polymerase III 32 kDa apha subunit; RNA polymerase III 32 kDa subunit; RNA polymerase III subunit C7; RPC32-alpha; polymerase (RNA) III (DNA directed) polypeptide G (32kD); polymerase (RNA) III subunit G", "tax_id": 9606, "disease": "", "pathway": " (hsa:10622); (R-HSA-1834949); (R-HSA-73780); (R-HSA-73980); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071)", "pathway_count": 8, "publication_count": 66, "publication_id_list": "10421633;11056176;11118217;11237011;11419933;11463379;12381659;12391170;17287340;18669648;19158675;19158676;19158679;1946469;19609254;19631370;19651622;20068231;20154270;20413673;21358628;21398614;21406692;21898682;23186163;23251783;23388631;2404611;24107381;26375851;26394183;26992070;27339422;27600516;27920218;28494942;28904123;29557506;32157095;32488085;32938616;32983136;33335104;33558764;33558766;33592498;33626331;33674783;33691108;33968037;34675218;35637192;37933949;7568218;7891697;7995525;8035818;8308883;8407894;8423814;9003788;9171375;9234698;9312031;9418884;9660958", "class_list": "", "function": "A cancer-associated RNA polymerase III identity drives robust transcription and expression of snaR-A noncoding RNA. Publication Status: Online-Only, [RefSeq, PubMed]; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:33558764, PubMed:34675218, PubMed:35637192). Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci (PubMed:20154270, PubMed:20413673, PubMed:35637192). Acts as a long tether that bridges POLR3C/RPC3-POLR3F/RPC6-POLR3G/RPC7 heterotrimer and the mobile stalk of Pol III, coordinating the dynamics of Pol III stalk and clamp modules during the transition from apo to elongation state. Pol III exists as two alternative complexes defined by the mutually exclusive incorporation of subunit POLR3G/RPC7alpha or POLR3GL/RPC7beta. POLR3G/RPC7alpha modulates Pol III transcriptome by specifically enhancing the transcription of snaR-A non-coding RNAs. At resting state, occupies the active site of apo Pol III and keeps Pol III in an autoinhibitory mode, preventing non-specific transcription (PubMed:33558764, PubMed:33558766, PubMed:35637192). Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as a nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs), induce type I interferon and NF-kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; POLR3G promotes EMT via PI3K/AKT signaling pathway in bladder cancer., [RefSeq, PubMed]; RNA polymerase III is required for the repair of DNA double-strand breaks by homologous recombination., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8MTH0", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016604 nuclear body;GO:0005666 RNA polymerase III complex", "go_biological_process": "GO:0008283 cell population proliferation;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006383 transcription by RNA polymerase III;GO:0006386 termination of RNA polymerase III transcription", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "O15318-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNX3-1", "uniprot_id": [ { "id": "RL26L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNX3", "type": "external" } ], "mass": 17256.0, "length": 145, "protein_name": "Ribosomal protein uL24-like", "gene_name": "RPL26L1", "organism": "Human", "refseq_name": "ribosomal protein uL24-like", "refseq_ac": [ { "id": "NP_001304909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304909", "type": "external" } ], "gene_names_uniprotkb": "RPL26L1; RPL26P1", "gene_names_refseq": "RPL26L1; RPL26P1", "protein_names_uniprotkb": "Ribosomal protein uL24-like; 60S ribosomal protein L26-like 1; Large ribosomal subunit protein uL24-like 1", "protein_names_refseq": "60S ribosomal protein L26-like 1; large ribosomal subunit protein uL24-like 1; ribosomal protein L26 homolog; ribosomal protein L26 pseudogene 1; ribosomal protein uL24-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:51121); (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": 202, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19691289;19706539;19801658;19859661;19892738;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22190735;22195017;22424782;22916032;23085078;23217742;23234702;23269699;23439679;23482395;23685075;23746841;2388630;24424021;24550520;24714562;25132172;25218447;25242263;25525153;25578875;25802875;25969445;26154972;26237581;27526673;28065601;28132843;28685749;28904123;29413899;29557506;29632312;30244831;30293783;30429286;30444036;30779550;30804176;30833945;31011209;31154438;31222486;31530632;31844290;31848261;31998317;32099016;32157095;32161166;32350084;32579943;33043033;33123756;33392160;33406423;33909987;33981976;34357683;35580925;36302773;37676773;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC008429.6, BU193755.1 and BC017360.2. This gene encodes a protein that shares high sequence similarity with ribosomal protein L26. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B3KY82;D3DQM0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0022625 cytosolic large ribosomal subunit;GO:0015934 large ribosomal subunit", "go_biological_process": "GO:0042273 ribosomal large subunit biogenesis;GO:0002181 cytoplasmic translation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 20.5, "record_id": "Q9UNX3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48307-1", "uniprot_id": [ { "id": "TFPI2_HUMAN", "url": "https://www.uniprot.org/uniprot/P48307", "type": "external" } ], "mass": 26934.0, "length": 235, "protein_name": "Tissue factor pathway inhibitor 2", "gene_name": "TFPI2", "organism": "Human", "refseq_name": "tissue factor pathway inhibitor 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001257932", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257932", "type": "external" } ], "gene_names_uniprotkb": "TFPI2", "gene_names_refseq": "PP5; REF1; TFPI-2; TFPI2", "protein_names_uniprotkb": "Tissue factor pathway inhibitor 2; PP5; Placental protein 5; TFPI-2", "protein_names_refseq": "placental protein 5; retinal pigment epithelium cell factor 1; tissue factor pathway inhibitor 2 isoform 2 precursor", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:7980); (R-HSA-9925563)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11342222;12757776;15932872;23090970;23481700;24190977;24333728;25645385;27846572;29485866;29557506;31844290;32157095;3276312;33141586;33968037;34357683;36787085;37074911;37186495;37549932;37938771;7872799;7896752;8159751", "class_list": "", "function": "Integrative analyses of RNA-seq and ChIP-seq Reveal MITF as a Target Gene of TFPI-2 in MDA231 Cells., [RefSeq, PubMed]; May play a role in the regulation of plasmin-mediated matrix remodeling. Inhibits trypsin, plasmin, factor VIIa/tissue factor and weakly factor Xa. Has no effect on thrombin., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The minimal TFPI2 promoter is located between -166 and -111 from the translation start site; three transcription initiation sites and several putative transcription factor binding sites were identified, and potential regulatory regions were characterized., [RefSeq, PubMed]; The role of tissue factor pathway inhibitor 2 in the coagulation and fibrinolysis system. Review article, [RefSeq, PubMed]; This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]., [RefSeq]; Tissue factor pathway inhibitor 2: Current understanding, challenges, and future perspectives. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 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": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 15, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q66ME8;Q8NAK6;Q9UC86", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0005576 extracellular region", "go_biological_process": "GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "P48307-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBD5-1", "uniprot_id": [ { "id": "ORC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBD5", "type": "external" } ], "mass": 82254.0, "length": 711, "protein_name": "Origin recognition complex subunit 3", "gene_name": "ORC3", "organism": "Human", "refseq_name": "origin recognition complex subunit 3 isoform 3", "refseq_ac": [ { "id": "NP_001184188", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184188", "type": "external" } ], "gene_names_uniprotkb": "ORC3; LATHEO; ORC3L", "gene_names_refseq": "LATHEO; ORC3L; ORC3", "protein_names_uniprotkb": "Origin recognition complex subunit 3; Origin recognition complex subunit Latheo", "protein_names_refseq": "homolog of latheo, Drosophila; origin recognition complex subunit 3 isoform 3; origin recognition complex subunit Latheo; origin recognition complex, subunit 3 honolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:23595); (R-HSA-113507); (R-HSA-176187); (R-HSA-68616); (R-HSA-68689); (R-HSA-68867); (R-HSA-68949); (R-HSA-68962)", "pathway_count": 8, "publication_count": 151, "publication_id_list": "10051570;10373362;10373557;10402192;10518787;10523313;10757793;10777662;10827953;10846177;10859164;10882098;10884341;11095689;11125146;11230166;11237011;11248027;11390642;11562349;11739726;11931757;12045100;12399544;12578958;12676583;12676925;12759351;12791985;12909626;12963847;14500360;14603323;14605214;14624239;14672932;15190204;15226314;15684404;15707391;15707891;15743907;15833913;16327781;16407120;16549788;16762929;16824194;17234884;17485488;17525332;17680271;17716973;18480045;18669648;19896182;20068231;21555516;22398447;22405012;22424782;22427655;22751019;23186163;23187890;23481700;23603117;23795651;23851460;24003239;24366607;24714562;24715725;25231993;25418920;25576301;25645385;25689043;25762138;25784553;26139588;26154972;26222030;26728094;26811146;26929215;26992070;27249176;27600516;27846572;27920218;28112645;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;29899147;30315122;30429286;31160578;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32808929;32848132;32938616;32983136;33141586;33298899;33298915;33392160;33592498;33691108;33717175;33801762;33912179;33936100;33968037;33981976;34131285;34171305;34211107;34405274;34509645;34932366;35051231;35580925;36010968;36241641;36284347;40914422;8196638;8943031;9278511;9278512;9635433;9660782", "class_list": "", "function": "Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Functional studies of the Drosophila homolog, [RefSeq, PubMed]; The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 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": "A2A2T5;B4E025;Q13565;Q53GY6;Q5T159;Q6IUY7;Q86TN5;Q9UG44;Q9UNT6", "ec_number_list": [], "go_molecular_function": "GO:0003688 DNA replication origin binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005656 nuclear pre-replicative complex;GO:0031261 DNA replication preinitiation complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006260 DNA replication;GO:0006275 regulation of DNA replication;GO:0006270 DNA replication initiation", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q9UBD5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C024-1", "uniprot_id": [ { "id": "NUDT7_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C024", "type": "external" } ], "mass": 26942.0, "length": 238, "protein_name": "Peroxisomal coenzyme A diphosphatase NUDT7", "gene_name": "NUDT7", "organism": "Human", "refseq_name": "peroxisomal coenzyme A diphosphatase NUDT7 isoform 1", "refseq_ac": [ { "id": "NP_001099133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099133", "type": "external" } ], "gene_names_uniprotkb": "NUDT7", "gene_names_refseq": "NUDT7", "protein_names_uniprotkb": "Peroxisomal coenzyme A diphosphatase NUDT7; 3.6.1.-; 3.6.1.77; Nucleoside diphosphate-linked moiety X motif 7; Nudix motif 7", "protein_names_refseq": "nudix (nucleoside diphosphate linked moiety X)-type motif 7; peroxisomal coenzyme A diphosphatase NUDT7 isoform 1; peroxisomal coenzyme A diphosphatase NUDT7", "tax_id": 9606, "disease": "", "pathway": " (hsa:283927); (R-HSA-390918); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10022913;10562279;10673331;10777549;11101887;11237011;11415433;11546814;11781871;11931631;12456682;12559034;12578380;12717447;12885776;15545321;15858711;16185196;16854980;17007944;17726030;18359941;18712838;18799520;19197237;19208625;19584060;19632994;19844255;20178365;21554508;21976670;21980954;22002062;22057399;22371489;22747494;23963456;24235149;24535825;24865970;24905344;25016021;25538232;25854684;26086376;26138649;26220973;26344566;26992070;27597759;28228285;28521612;28611990;28765278;28787099;31844290;31848261;32357974;32387766;32502341;32938616;33298915;33912179;34171305;34509645;7719337;7790377;8824437;8858165;8991089;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4'-phosphopantetheine and adenosine 3',5'-bisphosphate (By similarity). Cleaves CoA, CoA esters and oxidized CoA with similar efficiencies (By similarity). Preferentially hydrolyzes medium-chain acyl-CoAs and bile acid-CoAs (By similarity). Has no activity toward NDP-sugars, CDP-alcohols, (deoxy)nucleoside 5'-triphosphates, nucleoside 5'-di or monophosphates, diadenosine polyphosphates, NAD, NADH, NADP, NADPH or thymidine-5'-monophospho-p-nitrophenyl ester (By similarity). May be required to eliminate oxidized CoA from peroxisomes, or regulate CoA and acyl-CoA levels in this organelle in response to metabolic demand (By similarity). Does not play a role in U8 snoRNA decapping activity (By similarity). Binds U8 snoRNA (By similarity). Exhibits decapping activity towards dpCoA-capped RNAs in vitro (By similarity)., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B4DLE5;H3BUB8", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.42", "type": "external" }, { "id": "1.3.3.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.3.6", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "3.4.24.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.56", "type": "external" }, { "id": "1.4.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.3", "type": "external" }, { "id": "2.6.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.51", "type": "external" }, { "id": "2.6.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.44", "type": "external" }, { "id": "2.3.1.176", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.176", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "4.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.4", "type": "external" }, { "id": "2.3.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.137", "type": "external" }, { "id": "2.3.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.7", "type": "external" }, { "id": "3.6.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.17", "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": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.64", "type": "external" }, { "id": "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": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.6.1.68", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.68", "type": "external" }, { "id": "3.6.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.76", "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:0000287 magnesium ion binding;GO:0030145 manganese ion binding;GO:0030515 snoRNA binding;GO:0010945 coenzyme A diphosphatase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0036114 medium-chain fatty-acyl-CoA catabolic process;GO:2001294 malonyl-CoA catabolic process;GO:0009132 nucleoside diphosphate metabolic process;GO:0015938 coenzyme A catabolic process;GO:0046356 acetyl-CoA catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P0C024-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZS17-1", "uniprot_id": [ { "id": "RIPR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZS17", "type": "external" } ], "mass": 132308.0, "length": 1223, "protein_name": "Rho family-interacting cell polarization regulator 1", "gene_name": "RIPOR1", "organism": "Human", "refseq_name": "rho family-interacting cell polarization regulator 1 isoform 2", "refseq_ac": [ { "id": "NP_001180451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180451", "type": "external" } ], "gene_names_uniprotkb": "RIPOR1; FAM65A; KIAA1930", "gene_names_refseq": "FAM65A; RIPOR1", "protein_names_uniprotkb": "Rho family-interacting cell polarization regulator 1", "protein_names_refseq": "family with sequence similarity 65 member A; protein FAM65A; rho family-interacting cell polarization regulator 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79567)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;16964243;18669648;20068231;22028470;23186163;23481700;24714562;25418920;25576301;26375851;26992070;27807006;27846572;27920218;28063628;28218747;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30410026;30524438;31154438;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33214551;33298915;33592498;33717175;33912179;33968037;34019948;34087483;34171305;34357683;34509645;35051231;35201499;35318648;35580925;36010968;36215666;36241641;37938771;38665916;39534244", "class_list": "", "function": "Downstream effector protein for Rho-type small GTPases that plays a role in cell polarity and directional migration (PubMed:27807006). Acts as an adapter protein, linking active Rho proteins to STK24 and STK26 kinases, and hence positively regulates Golgi reorientation in polarized cell migration upon Rho activation (PubMed:27807006). Involved in the subcellular relocation of STK26 from the Golgi to cytoplasm punctae in a Rho- and PDCD10-dependent manner upon serum stimulation (PubMed:27807006)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; These results reveal a previously unidentified pathway downstream of RHO that regulates the polarity of migrating cells through Golgi reorientation in a FAM65A-, CCM3- and MST3- and MST4-dependent manner., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DEQ9;B4DIM2;E9PBS3;Q4G0A4;Q7Z5R7;Q8NDA4;Q96J39;Q96PV8;Q9H8D9", "ec_number_list": [], "go_molecular_function": "GO:0071889 14-3-3 protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane;GO:0031252 cell leading edge", "go_biological_process": "GO:1990869 cellular response to chemokine;GO:0030335 positive regulation of cell migration;GO:0090316 positive regulation of intracellular protein transport;GO:0007266 Rho protein signal transduction;GO:0009611 response to wounding", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q6ZS17-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZE1-1", "uniprot_id": [ { "id": "RM37_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZE1", "type": "external" } ], "mass": 48117.0, "length": 423, "protein_name": "Large ribosomal subunit protein mL37", "gene_name": "MRPL37", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL37 isoform 2", "refseq_ac": [ { "id": "NP_057575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057575", "type": "external" } ], "gene_names_uniprotkb": "MRPL37; HSPC235; MRPL2; RPML2", "gene_names_refseq": "L2mt; L37mt; MRP-L2; MRP-L37; MRPL2; MRPL37; RPML2; mL37", "protein_names_uniprotkb": "Large ribosomal subunit protein mL37; 39S ribosomal protein L2, mitochondrial; 39S ribosomal protein L37, mitochondrial; L2mt; L37mt; MRP-L2; MRP-L37", "protein_names_refseq": "39S ribosomal protein L2, mitochondrial; 39S ribosomal protein L37, mitochondrial; large ribosomal subunit protein mL37 isoform 2; mitochondrial large ribosomal subunit protein mL37; ribosomal protein, mitochondrial, L2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51253); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 98, "publication_id_list": "11237011;11543634;15358359;15562971;17803939;18429816;18782833;19524667;19716793;20068231;20186120;20877624;21907147;22172991;2250005;23481700;24366607;24714562;24715725;25233460;25278503;25418920;25576301;25645385;25838379;25892735;26154972;26375851;26728094;26992070;27029019;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28892042;28904123;29242379;29493099;29508533;29632711;29671165;29769354;30315122;30429286;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33243891;33298915;33392160;33537174;33592498;33691108;33717175;33878294;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35177605;35580925;36010968;36241641;36284347;36302763;36581221;36596788;37141370;38665916;40596516;40914422", "class_list": "", "function": "MRPL37 gene is widely represented in the lymphoma populations of Raji B cells and MT4 T cells, as well as in pancreas, liver, and lung embryonic fibroblasts, which may imply the MRPL37 involvement in the process of apoptosis., [RefSeq, PubMed]; Male VTE patients with MRPL37 polymorphism had a significantly higher risk of VTE recurrence, [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]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q96Q67;Q9BWR1;Q9P0P3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome;GO:0005840 ribosome", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9BZE1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTZ1-1", "uniprot_id": [ { "id": "OVCH2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTZ1", "type": "external" } ], "mass": 62642.0, "length": 564, "protein_name": "Ovochymase-2", "gene_name": "OVCH2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OVCH2; OVTN", "gene_names_refseq": "", "protein_names_uniprotkb": "Ovochymase-2; 3.4.21.-; Oviductin", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11237011;12838346;30524438;32488085;32499443;35051231", "class_list": "", "function": "May be required for sperm ADAM3 processing and consequential sperm fertilizing ability (By similarity). In vitro, has an endopeptidase activity (PubMed:32499443)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis;GO:0009566 fertilization", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q7RTZ1-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UW60-1", "uniprot_id": [ { "id": "PCSK4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UW60", "type": "external" } ], "mass": 82795.0, "length": 755, "protein_name": "Proprotein convertase subtilisin/kexin type 4", "gene_name": "PCSK4", "organism": "Human", "refseq_name": "proprotein convertase subtilisin/kexin type 4 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_060043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060043", "type": "external" } ], "gene_names_uniprotkb": "PCSK4; PC4; PRO6496", "gene_names_refseq": "PC4; PCSK4; SPC5", "protein_names_uniprotkb": "Proprotein convertase subtilisin/kexin type 4; 3.4.21.-; PC4; Proprotein convertase 4", "protein_names_refseq": "proprotein convertase subtilisin/kexin type 4 isoform 1 preproprotein; testicular tissue protein Li 135", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:54760)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;12975309;16040806;21080038;23481700;31844290;35051231", "class_list": "", "function": "Proprotein convertase involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues (By similarity). In males, important for ADAM2 processing as well as other acrosomal proteins with roles in fertilization and critical for normal fertilization events such as sperm capacitation, acrosome reaction and binding of sperm to zona pellucida (By similarity). Also plays a role in female fertility, involved in the regulation of trophoblast migration and placental development, may be through the proteolytical processing and activation of proteins such as IGF2 (PubMed:16040806). May also participate in folliculogenesis in the ovaries (By similarity)., [UniProtKB, PubMed, UniProtKB]; This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. The protease is expressed only in the testis, placenta, and ovary. It plays a critical role in fertilization, fetoplacental growth, and embryonic development and processes multiple prohormones including pro-pituitary adenylate cyclase-activating protein and pro-insulin-like growth factor II. [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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 22, "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": "Q8IY88;Q9UF79", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0001669 acrosomal vesicle;GO:0002080 acrosomal membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0007339 binding of sperm to zona pellucida;GO:0009566 fertilization;GO:0016485 protein processing;GO:0016486 peptide hormone processing;GO:0007340 acrosome reaction", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6UW60-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02543-1", "uniprot_id": [ { "id": "RL18A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02543", "type": "external" } ], "mass": 20762.0, "length": 176, "protein_name": "Large ribosomal subunit protein eL20", "gene_name": "RPL18A", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL20", "refseq_ac": [ { "id": "NP_000971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000971", "type": "external" } ], "gene_names_uniprotkb": "RPL18A", "gene_names_refseq": "L18A; RPL18A; eL20", "protein_names_uniprotkb": "Large ribosomal subunit protein eL20; 60S ribosomal protein L18a", "protein_names_refseq": "60S ribosomal protein L18a; large ribosomal subunit protein eL20; ribosomal protein L18a-like protein", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:6142); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 17, "publication_count": 273, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11823430;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15592455;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16112985;16186820;16195786;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17081983;17142313;17189298;17267404;17322306;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18691976;18974281;19060897;19106111;19150429;19332556;19359157;19369195;19415658;19417104;19478851;19503078;19556969;19564402;19608919;19690332;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20166139;20305658;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21740066;22072790;22121020;22190735;22195017;22645359;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23482395;23636399;23685075;23746841;2388630;24029068;24424021;24524803;24550520;24714562;24715725;25132172;25218447;25242263;25502872;25525153;25576301;25578875;25810538;25969445;26154972;26237581;26992070;27397612;27526673;27846572;27862975;28065601;28132843;28510447;28685749;28904123;29351928;29413899;29437277;29493099;29557506;29632312;30244831;30293783;30429286;30484775;30804176;30833945;31011209;31154438;31217245;31222486;31611695;31844290;31848261;31998317;32099016;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32579943;32669547;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33406423;33465208;33592498;33633747;33691108;33717175;33909987;33912179;33936100;33968037;34019948;34078123;34171305;34185709;34211107;34357683;34433824;34509645;34561969;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36241641;36284347;36302773;37676773;37938771;38665916;39395807;40596516;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, PubMed, PubMed]; L18a might influence the HCV IRES mediated translation., [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 member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting with the hepatitis C virus internal ribosome entry site (IRES). This gene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [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": 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": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0016020 membrane;GO:0022626 cytosolic ribosome", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 27.8, "record_id": "Q02543-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40429-1", "uniprot_id": [ { "id": "RL13A_HUMAN", "url": "https://www.uniprot.org/uniprot/P40429", "type": "external" } ], "mass": 23577.0, "length": 203, "protein_name": "Large ribosomal subunit protein uL13", "gene_name": "RPL13A", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL13 isoform 2", "refseq_ac": [ { "id": "NP_001257420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257420", "type": "external" } ], "gene_names_uniprotkb": "RPL13A", "gene_names_refseq": "L13A; RPL13A; TSTA1; uL13", "protein_names_uniprotkb": "Large ribosomal subunit protein uL13; 23 kDa highly basic protein; 60S ribosomal protein L13a", "protein_names_refseq": "23 kDa highly basic protein; 60S ribosomal protein L13a; epididymis secretory sperm binding protein; highly basic protein 23 kDa; large ribosomal subunit protein uL13 isoform 2; large ribosomal subunit protein uL13; tissue specific transplantation antigen 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23521); (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": 299, "publication_id_list": "10358005;10580157;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12042320;12068309;12150911;12417715;12493757;12554878;12588972;12718880;1282492;12832468;12853463;12962325;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15104674;15317934;15385533;15479637;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17218275;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;17921318;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18974281;18995835;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22190735;22195017;22223895;22916032;23071094;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24029068;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25469497;25489052;25525153;25576301;25578875;25645385;25810538;25880248;25892735;25969445;26154972;26237581;26375851;26728094;26758079;26811146;26929215;26992070;27397612;27526673;27543614;27600516;27726376;27846572;27920218;28063628;28065601;28132843;28228285;28446606;28467828;28510447;28514659;28685749;28832583;28834231;28860189;28904123;29242379;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29632312;29632711;29769354;29786170;29789417;30244831;30293783;30315122;30524438;30573663;30779550;30804176;30833945;31011209;31154438;31217245;31308261;31530632;31844290;31848261;31998317;32099016;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32579943;32669547;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33406423;33592498;33691108;33717175;33909987;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34433824;34509645;34561969;34725712;34907725;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35526384;35561310;35580925;36010968;36215666;36241641;36284347;36302773;37676773;37938771;38665916;40914422;40930100;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Associated with ribosomes but is not required for canonical ribosome function and has extra-ribosomal functions (PubMed:14567916, PubMed:17218275, PubMed:23636399, PubMed:32669547). Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes (PubMed:23071094). Upon interferon-gamma activation and subsequent phosphorylation dissociates from the ribosome and assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation (PubMed:23071094). In the GAIT complex interacts with m7G cap-bound eIF4G at or near the eIF3-binding site and blocks the recruitment of the 43S ribosomal complex (PubMed:23071094). Involved in methylation of rRNA (PubMed:17921318)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Moonlight human ribosomal protein L13a downregulation is associated with p53 and HER2/neu expression in breast 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 member of the L13P family of ribosomal proteins that is a component of the 60S subunit. The encoded protein also plays a role in the repression of inflammatory genes as a component of the IFN-gamma-activated inhibitor of translation (GAIT) complex. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in the second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]; Show through cellular immunofluorescence experiments that nuclear but not nucleolar localization of L13a is resistant to extensive amino acid alterations, suggesting that multiple complex nuclear import signals are present within this protein, [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": 1, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K505", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0017148 negative regulation of translation;GO:0006941 striated muscle contraction", "synthesized_glycan_count": 0, "hit_score": 30.2, "record_id": "P40429-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02818-1", "uniprot_id": [ { "id": "NUCB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02818", "type": "external" } ], "mass": 53879.0, "length": 461, "protein_name": "Nucleobindin-1", "gene_name": "NUCB1", "organism": "Human", "refseq_name": "nucleobindin-1 precursor", "refseq_ac": [ { "id": "NP_006175", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006175", "type": "external" } ], "gene_names_uniprotkb": "NUCB1; NUC", "gene_names_refseq": "CALNUC; NUCB1; NUC", "protein_names_uniprotkb": "Nucleobindin-1; CALNUC", "protein_names_refseq": "nucleobindin-1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:4924); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 158, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15126567;1520323;15287731;15308688;15469690;15485880;15525596;15642270;17047378;17249697;17312271;17525332;17985932;18077418;18083107;18512783;20068231;20166139;22661428;22905912;23234360;23399548;23584533;23719902;24275569;2476804;2479552;25502872;25576301;25645385;25813380;25880248;26091039;26154972;26758079;26768311;27452731;27600516;27846572;27920218;28228285;28467828;28510447;28514659;28832583;28855257;29237092;29242379;29314611;29317506;29351928;29393594;29493099;29508533;29557506;29632046;29632711;30059200;30194280;30429286;30459171;30626607;31217245;31492838;31611695;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33141586;33298915;33465208;33592498;33912179;33936100;33968037;33981976;34019948;34047336;34078123;34087483;34171305;34211107;34357683;34405274;34433824;34509645;35051231;35132862;35154160;35251023;35318648;35513511;35580925;36241641;37547718;38665916;39534244;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7589456;7683646;7689487;8661046;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Aberrant environment and PS-binding to calnuc C-terminal tail drives exosomal packaging and its metastatic ability., [RefSeq, PubMed]; Expression and correlation of COX-2 and NUCB1 in colorectal adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Major calcium-binding protein of the Golgi which may have a role in calcium homeostasis (By similarity). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates alpha subunits of guanine nucleotide-binding proteins (G proteins) (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Major calcium-binding protein of the Golgi which may have a role in calcium homeostasis. Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates alpha subunits of guanine nucleotide-binding proteins (G proteins)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [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": 5, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 31, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 36, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 36, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 36, "binding_glycan_count": 0, "secondary_ac_list": "B2RD64;Q15838;Q7Z4J7;Q9BUR1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005509 calcium ion binding;GO:0001965 G-protein alpha-subunit binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "Q02818-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HB40-1", "uniprot_id": [ { "id": "RISC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HB40", "type": "external" } ], "mass": 50831.0, "length": 452, "protein_name": "Retinoid-inducible serine carboxypeptidase", "gene_name": "SCPEP1", "organism": "Human", "refseq_name": "retinoid-inducible serine carboxypeptidase precursor", "refseq_ac": [ { "id": "NP_067639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067639", "type": "external" } ], "gene_names_uniprotkb": "SCPEP1; MSTP034; PRO302; RISC; SCP1", "gene_names_refseq": "HSCP1; RISC; SCPEP1", "protein_names_uniprotkb": "Retinoid-inducible serine carboxypeptidase; 3.4.16.-; Serine carboxypeptidase 1", "protein_names_refseq": "retinoid-inducible serine carboxypeptidase precursor; retinoid-inducible serine carboxypeptidase; serine carboxypeptidase 1 precursor protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:59342)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12754519;12975309;15340161;21935400;24530914;25418920;25502872;25505266;25813380;25880248;26375851;26992070;27452731;27920218;28228285;28467828;28904123;29242379;29317506;29351928;29437277;29557506;29632711;29741879;29769354;30315122;30410026;30626607;31530632;31844290;32157095;32350084;32357974;32488085;32938616;32983136;33091337;33298915;33592498;33912179;33968037;34087483;34171305;34357683;35051231;35138101;35154160;35251023;35561310;35580925;36010968;36241641;36284347;36581221;40596516", "class_list": "", "function": "May be involved in vascular wall and kidney homeostasis., [UniProtKB]; RACK1 binds to KH-type splicing regulatory protein (KSRP), a member of the Dicer complex, and is required for the recruitment of mature miRNAs to the RNA-induced silencing complex (RISC)., [RefSeq, PubMed]; The structures of active lysosomal serine carboxypeptidase cathepsin A and the inactive precursor are very similar., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q96A94;Q9H3F0", "ec_number_list": [], "go_molecular_function": "GO:0004185 serine-type carboxypeptidase activity", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0045776 negative regulation of blood pressure;GO:0042573 retinoic acid metabolic process;GO:0097746 blood vessel diameter maintenance", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9HB40-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEB9-1", "uniprot_id": [ { "id": "RHBL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEB9", "type": "external" } ], "mass": 35823.0, "length": 315, "protein_name": "Rhomboid-related protein 4", "gene_name": "RHBDD1", "organism": "Human", "refseq_name": "rhomboid-related protein 4", "refseq_ac": [ { "id": "NP_001161080", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161080", "type": "external" } ], "gene_names_uniprotkb": "RHBDD1; HSD-50; HSD50; RHBDL4", "gene_names_refseq": "RHBDD1; RHBDL4; RRP4", "protein_names_uniprotkb": "Rhomboid-related protein 4; 3.4.21.105; RRP4; Rhomboid domain-containing protein 1; Rhomboid-like protein 4", "protein_names_refseq": "rhomboid domain-containing protein 1; rhomboid like 4; rhomboid-like protein 4; rhomboid-related protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:84236)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;18953687;20166139;22624035;22795130;26375851;26992070;28218747;28832583;28834231;29242379;29437277;29557506;29786170;30315122;31154438;31844290;31848261;32157095;32387766;32938616;32983136;33141586;33298915;33392160;33912179;34433824;35051231;35561310;36284347;37938771;38453906;38992438;39080693", "class_list": "", "function": "CircRHBDD1 promotes immune escape via IGF2BP2/PD-L1 signaling and acts as a nanotherapeutic target in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Eta-secretase-like processing of the amyloid precursor protein (APP) by the rhomboid protease RHBDL4., [RefSeq, PubMed]; Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRAC processing. Involved in the regulation of exosomal secretion; inhibits the TSAP6-mediated secretion pathway. Involved in the regulation of apoptosis; modulates BIK-mediated apoptotic activity. Also plays a role in the regulation of spermatogenesis; inhibits apoptotic activity in spermatogonia., [UniProtKB, PubMed, PubMed]; RHBDD1 is involved in the regulation of a nonclassical exosomal secretion pathway through the restriction of TSAP6., [RefSeq, PubMed]; RHBDD1, a serine protease, modulates BIK-mediated apoptotic activity., [RefSeq, PubMed]; RHBDL4-triggered downregulation of COPII adaptor protein TMED7 suppresses TLR4-mediated inflammatory signaling. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 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": "Q495B9;Q53S43;Q5EBM8;Q6P5V8;Q8IV60;Q9H057", "ec_number_list": [], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane;GO:0044322 endoplasmic reticulum quality control compartment;GO:0016020 membrane", "go_biological_process": "GO:1904211 membrane protein proteolysis involved in retrograde protein transport, ER to cytosol;GO:0043066 negative regulation of apoptotic process;GO:0043687 post-translational protein modification;GO:0006915 apoptotic process;GO:0010954 positive regulation of protein processing", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8TEB9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZF1-1", "uniprot_id": [ { "id": "OSBL8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZF1", "type": "external" } ], "mass": 101196.0, "length": 889, "protein_name": "Oxysterol-binding protein-related protein 8", "gene_name": "OSBPL8", "organism": "Human", "refseq_name": "oxysterol-binding protein-related protein 8 isoform b", "refseq_ac": [ { "id": "NP_001003712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003712", "type": "external" } ], "gene_names_uniprotkb": "OSBPL8; KIAA1451; ORP8; OSBP10", "gene_names_refseq": "MST120; MSTP120; ORP8; OSBP10; OSBPL8", "protein_names_uniprotkb": "Oxysterol-binding protein-related protein 8; ORP-8; OSBP-related protein 8", "protein_names_refseq": "OSBP-related protein 8; oxysterol-binding protein-related protein 8 isoform b; oxysterol-binding protein-related protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:114882); (R-HSA-1482801)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "10196188;10455175;10681567;11031251;11112443;11237011;11483621;11735225;11830583;12161451;12359733;12522102;17081983;17101204;17428193;17924679;17991739;18220336;18287005;18458083;18614531;18669648;18772128;19413330;19554302;19651622;19690332;20068231;20705608;21220512;21406692;21698267;22906437;23186163;23481700;23934110;24275569;24424245;25505266;25576301;25645385;25880248;25892735;26154972;26206935;26375851;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28411811;28649982;28832583;28834231;28904123;28970484;29242379;2925608;29393594;29409900;29437277;29472386;29493099;29508533;29557506;29632711;29748134;29786170;30315122;30779550;31154438;31844290;31848261;32157095;32323800;32350084;32357974;32502341;32938616;32983136;33091337;33298915;33592498;33968037;33981976;34087483;34185709;34932366;35051231;35580925;36010968;36241641;36284347;37938771;40914422;7060561;8300559;9188469", "class_list": "", "function": "Data identify ORP8 as a negative regulator of ABCA1 expression and macrophage cholesterol efflux. ORP8 may, thus, modulate the development of atherosclerosis., [RefSeq, PubMed]; Examination of a series of deletion constructs demonstrated that both the N-terminal polybasic region and the PH domain are required for proper targeting of the short splice variant ORP8S to the PM-ER contact site in Chinese hamster ovary cells., [RefSeq, PubMed]; Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:26206935). Binds oxysterol, 25-hydroxycholesterol and cholesterol (PubMed:17428193, PubMed:17991739, PubMed:21698267)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; ORP5/8 are endoplasmic reticulum (ER) membrane proteins implicated in lipid trafficking that localize to ER-plasma membrane (PM) contacts and maintain membrane homeostasis. Here the authors show that PtdIns(4,5)P 2 plays a critical role in the targeting and function of ORP5/8 at the PM. Publication Status: Online-Only, [RefSeq, PubMed]; ORP5/8 recruitment to the plasma membrane occurs through interactions with the N-terminal Pleckstrin homology domains and adjacent basic residues of ORP5/8 with both phosphatidylinositol 4-phosphate and Phosphatidylinositol 4,5-bisphosphate., [RefSeq, PubMed]; ORP5/8 regulate Ca(2+) signaling at specific membrane contact sites foci., [RefSeq, PubMed]; ORP8 induces apoptosis by releasing cytochrome c from mitochondria in nonsmall cell lung cancer., [RefSeq, PubMed]; This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 1, "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": "A8K1T2;E9PE66;E9PE68;Q52LQ3;Q68D75;Q8WXP8;Q9P277", "ec_number_list": [], "go_molecular_function": "GO:0005548 phospholipid transporter activity;GO:0015485 cholesterol binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0001786 phosphatidylserine binding;GO:0140343 phosphatidylserine transfer activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0015914 phospholipid transport;GO:0045444 fat cell differentiation;GO:0070328 triglyceride homeostasis;GO:0046326 positive regulation of D-glucose import", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q9BZF1-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35658-1", "uniprot_id": [ { "id": "NU214_HUMAN", "url": "https://www.uniprot.org/uniprot/P35658", "type": "external" } ], "mass": 213620.0, "length": 2090, "protein_name": "Nuclear pore complex protein Nup214", "gene_name": "NUP214", "organism": "Human", "refseq_name": "nuclear pore complex protein Nup214 isoform 3", "refseq_ac": [ { "id": "NP_001305253", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305253", "type": "external" } ], "gene_names_uniprotkb": "NUP214; CAIN; CAN; KIAA0023", "gene_names_refseq": "CAIN; CAN; IIAE9; NUP214", "protein_names_uniprotkb": "Nuclear pore complex protein Nup214; 214 kDa nucleoporin; Nucleoporin Nup214; Protein CAN", "protein_names_refseq": "CAN protein, putative oncogene; nuclear pore complex protein Nup214 isoform 3; nuclear pore complex protein Nup214; nucleoporin 214kDa", "tax_id": 9606, "disease": "acute myeloid leukemia (Disease Ontology:DOID:9119); brain disease (Disease Ontology:DOID:936); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); encephalopathy, acute, infection-induced, susceptibility to, 9 (MONDO:MONDO:0032742)", "pathway": " (hsa:8021); (R-HSA-1169408); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-450520); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-6784531); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9705671)", "pathway_count": 32, "publication_count": 557, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Required for capsid disassembly of the human adenovirus 5 (HadV-5) leading to release of the viral genome to the nucleus (in vitro)., [UniProtKB, PubMed]; A mechanism is proposed by which the C-terminal peptide extension is involved in nuclear pore complex assembly., [RefSeq, PubMed]; NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution., [RefSeq, PubMed]; Part of the nuclear pore complex (PubMed:9049309). Has a critical role in nucleocytoplasmic transport (PubMed:31178128). May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex (PubMed:31178128, PubMed:8108440)., [UniProtKB, PubMed, PubMed, PubMed]; Part of the nuclear pore complex. Has a critical role in nucleocytoplasmic transport. May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review. Publication Status: Online-Only, [RefSeq, PubMed]; The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]., [RefSeq]; [SET-NUP214-positive pediatric acute myeloid leukemia: a report of two cases]., [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": 6, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 272, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 272, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 272, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 78, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 387, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 275, "binding_glycan_count": 0, "secondary_ac_list": "A6NFQ0;Q15010;Q3KQZ0;Q5JUP7;Q75R47;Q86XD3", "ec_number_list": [], "go_molecular_function": "GO:0017056 structural constituent of nuclear pore;GO:0008139 nuclear localization sequence binding;GO:0005049 nuclear export signal receptor activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:1990876 cytoplasmic side of nuclear pore", "go_biological_process": "GO:0006406 mRNA export from nucleus;GO:0006913 nucleocytoplasmic transport;GO:0046822 regulation of nucleocytoplasmic transport;GO:0006611 protein export from nucleus;GO:0006405 RNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 83.4, "record_id": "P35658-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2J9-1", "uniprot_id": [ { "id": "PDP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2J9", "type": "external" } ], "mass": 59978.0, "length": 529, "protein_name": "[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial", "gene_name": "PDP2", "organism": "Human", "refseq_name": "[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001316857", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316857", "type": "external" } ], "gene_names_uniprotkb": "PDP2; KIAA1348", "gene_names_refseq": "PDP2; PDPC 2; PPM2B; PPM2C2", "protein_names_uniprotkb": "[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial; 3.1.3.43; PDP 2; PDPC 2; Pyruvate dehydrogenase phosphatase catalytic subunit 2", "protein_names_refseq": "[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial precursor; [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial; protein phosphatase 2C, magnesium-dependent, catalytic subunit 2; protein phosphatase, Mg2+/Mn2+ dependent 2B; pyruvate dehydrogenase phosphatase isoenzyme 2; pyruvate dehyrogenase phosphatase catalytic subunit 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57546); (R-HSA-204174)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11327815;11485553;11486000;15855260;17532339;17544412;19833728;20208177;20884751;25525879;25576301;28832583;29242379;29557506;30150402;30315122;30779550;31530632;31844290;32157095;32488085;33968037;33981976;34171305;35051231;35580925;38466744;7499431;8798399;9395502;9405293;9651365;9710704;9815194", "class_list": "", "function": "Autocrine phosphatase PDP2 inhibits ferroptosis by dephosphorylating ACSL4 in the Luminal A Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Catalytic subunit of PDP2 crystals belonged to space group P2(1)2(1)2(1), with unit-cell parameters a = 53.6, b = 69.1, c = 109.7 A., [RefSeq, PubMed]; ICER was found to bind to the Pdp2 promoter and suppress its expression. Furthermore, forced expression of PDP2 in CD4(+) cells reduced the in vitro Th17 differentiation, whereas shRNA-based suppression of PDP2 expression increased in vitro Th17 differentiation, [RefSeq, PubMed]; Mitochondrial enzyme that catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (PDC), thereby stimulating the conversion of pyruvate into acetyl-CoA (By similarity). Acts as a crucial regulator of T cell metabolism and function, with a particular focus on T-helper Th17 (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This gene is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants encoding the same protein. [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": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K924", "ec_number_list": [ { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.12", "type": "external" }, { "id": "3.1.3.43", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.43", "type": "external" } ], "go_molecular_function": "GO:0004741 [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity;GO:0046872 metal ion binding;GO:0004721 phosphoprotein phosphatase activity;GO:0043169 cation binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0042093 T-helper cell differentiation", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9P2J9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV38-1", "uniprot_id": [ { "id": "WDR18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV38", "type": "external" } ], "mass": 47405.0, "length": 432, "protein_name": "WD repeat-containing protein 18", "gene_name": "WDR18", "organism": "Human", "refseq_name": "WD repeat-containing protein 18 isoform 1", "refseq_ac": [ { "id": "NP_077005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077005", "type": "external" } ], "gene_names_uniprotkb": "WDR18", "gene_names_refseq": "Ipi3; R32184_1; WDR18", "protein_names_uniprotkb": "WD repeat-containing protein 18", "protein_names_refseq": "Involved in Processing ITS2 3 homolog; WD repeat-containing protein 18 isoform 1; WD repeat-containing protein 18", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:57418); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 117, "publication_id_list": "11237011;11922599;12068309;12150911;16037817;16043514;16738141;17189298;17353269;17412707;18065403;18083107;18438418;19106111;19332556;19564402;19801658;20038530;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21326211;22009320;22072790;22190735;22195017;22424782;22544926;22872859;22916032;23301498;23439679;23481700;23482395;2388630;24424021;24550520;24715725;25505266;25525153;25576301;25645385;25802875;25969445;26154972;26237581;26375851;26758079;26811146;26992070;27397612;27600516;27846572;27920218;28218747;28228285;28510447;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30524438;30779550;30833945;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34509645;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36284347;37938771;38665916;9482744", "class_list": "", "function": "Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. 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. May play a role during development., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; These data define the PELP1-TEX10-WDR18 complex as a regulator of ribosome biogenesis and suggests that its SUMO-controlled distribution coordinates the rate of ribosome formation., [RefSeq, PubMed]; This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O60390;Q9BWR2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005656 nuclear pre-replicative complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0120293 dynein axonemal particle", "go_biological_process": "GO:0006364 rRNA processing;GO:0000448 cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q9BV38-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13405-1", "uniprot_id": [ { "id": "RM49_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13405", "type": "external" } ], "mass": 19198.0, "length": 166, "protein_name": "Large ribosomal subunit protein mL49", "gene_name": "MRPL49", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL49", "refseq_ac": [ { "id": "NP_004918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004918", "type": "external" } ], "gene_names_uniprotkb": "MRPL49; C11orf4; NOF1; SW-cl.67", "gene_names_refseq": "C11orf4; COXPD60; L49mt; MRP-L49; MRPL49; NOF1; NOF; mL49", "protein_names_uniprotkb": "Large ribosomal subunit protein mL49; 39S ribosomal protein L49, mitochondrial; L49mt; MRP-L49; NOF; Neighbor of FAU; Protein NOF1", "protein_names_refseq": "39S ribosomal protein L49, mitochondrial; large ribosomal subunit protein mL49; mitochondrial large ribosomal subunit protein mL49; neighbor of FAU; next to FAU", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 60 (MONDO:MONDO:0978298)", "pathway": " (hsa:740); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 70, "publication_id_list": "11237011;11551941;14978097;15358359;17803939;18429816;18782833;18991276;19524667;19716793;20068231;20186120;20877624;21654843;21907147;22172991;2250005;24715725;25233460;25278503;25576301;25838379;26154972;27029019;27846572;27920218;28218747;28228285;28510447;28832583;28892042;29242379;29331515;29393594;29437277;29493099;29557506;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31530632;31844290;32157095;32897882;33243891;33592498;33717175;33878294;33968037;33981976;34087483;34171305;34185709;34932366;35051231;35177605;35318648;35561310;35580925;36241641;36302763;36596788;37141370;37938771;40043708;8786148", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4G6", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome;GO:0005840 ribosome", "go_biological_process": "GO:0032543 mitochondrial translation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q13405-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKZ9-1", "uniprot_id": [ { "id": "PCOC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKZ9", "type": "external" } ], "mass": 45717.0, "length": 415, "protein_name": "Procollagen C-endopeptidase enhancer 2", "gene_name": "PCOLCE2", "organism": "Human", "refseq_name": "procollagen C-endopeptidase enhancer 2 precursor", "refseq_ac": [ { "id": "NP_037495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037495", "type": "external" } ], "gene_names_uniprotkb": "PCOLCE2; PCPE2; PRO287", "gene_names_refseq": "PCOLCE2; PCPE2", "protein_names_uniprotkb": "Procollagen C-endopeptidase enhancer 2; PCPE-2; Procollagen C-proteinase enhancer 2; Procollagen COOH-terminal proteinase enhancer 2", "protein_names_refseq": "procollagen C-endopeptidase enhancer 2 precursor; procollagen C-proteinase enhancer 2; procollagen COOH-terminal proteinase enhancer 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26577); (R-HSA-1650814)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10479448;10873381;10934207;11237011;11597177;12063410;12393877;12473679;12475640;12646579;12975309;1323838;14500733;15044469;15340161;1577494;16591531;18487197;18491316;19075007;19237735;19693541;20470363;21878990;21967573;2543975;26218419;27600516;29557506;30429286;30459171;30524438;3173483;31844290;32157095;33141586;34357683;35051231;35580925;3905801;3938630;6307276;6809411;710450;9054364;9545296;9560306;9582318", "class_list": "", "function": "Assignment of Pcolce2 gene, which encodes procollagen C-proteinase enhancer protein 2, to human chromosome 3q23., [RefSeq, PubMed]; Binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1., [UniProtKB, PubMed]; Data indicate that PCPE2 accelerates the proteolytic processing of pro-apolipoprotein (apo) AI by enhancing the cleavage of the hexapeptide extension present at the N terminus of apoAI., [RefSeq, PubMed]; PCPE2 is shown to be a glycoprotein that differs markedly in the nature of its glycosylation from that of PCPE1, [RefSeq, PubMed]; Procollagen C-endopeptidase protein 2, atherosclerosis and HDL cholesteryl ester catabolism. [Review] Review article, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RCH9;D3DNG4;Q9BRH3", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0016504 peptidase activator activity;GO:0005518 collagen binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9UKZ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6D2-1", "uniprot_id": [ { "id": "RN182_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6D2", "type": "external" } ], "mass": 27402.0, "length": 247, "protein_name": "E3 ubiquitin-protein ligase RNF182", "gene_name": "RNF182", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF182", "refseq_ac": [ { "id": "NP_001158504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158504", "type": "external" } ], "gene_names_uniprotkb": "RNF182", "gene_names_refseq": "RNF182", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF182; 2.3.2.27; RING finger protein 182; RING-type E3 ubiquitin transferase RNF182", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF182; RING-type E3 ubiquitin transferase RNF182", "tax_id": 9606, "disease": "", "pathway": " (hsa:221687); (R-HSA-983168)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;16959974;18298843;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2261476;31432514;32161166;32486221;37249301;9380723;9668046", "class_list": "", "function": "E3 ubiquitin ligase RNF182 is highly expressed in macrophages and is specifically upregulated by Toll-like receptors (TLR) stimuli (TLR4, TLR3 and TLR9 agonists). Knockdown of RNF182 selectively amplifies TLR signaling by promoting the production of proinflammatory cytokines but not type I interferons in macrophages., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates the ubiquitination of ATP6V0C and targets it to degradation via the ubiquitin-proteasome pathway (PubMed:18298843). Also plays a role in the inhibition of TLR-triggered innate immune response by mediating 'Lys'-48-linked ubiquitination and subsequent degradation of NF-kappa-B component RELA (PubMed:31432514)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; RNF182 induces p65 ubiquitination to affect PDL1 transcription and suppress immune evasion in lung adenocarcinoma., [RefSeq, PubMed]; The Role of Tissue-Specific Ubiquitin Ligases, RNF183, RNF186, RNF182 and RNF152, in Disease and Biological Function. 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": 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": "B2RDG2;Q8NBG3", "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:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8N6D2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SN7-1", "uniprot_id": [ { "id": "ORAI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SN7", "type": "external" } ], "mass": 28570.0, "length": 254, "protein_name": "Protein orai-2", "gene_name": "ORAI2", "organism": "Human", "refseq_name": "protein orai-2 isoform a", "refseq_ac": [ { "id": "NP_001119812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119812", "type": "external" } ], "gene_names_uniprotkb": "ORAI2; C7orf19; CBCIP2; PP1729; TMEM142B", "gene_names_refseq": "C7orf19; CBCIP2; MEM142B; ORAI2; TMEM142B", "protein_names_uniprotkb": "Protein orai-2; CAP-binding protein complex-interacting protein 2; Transmembrane protein 142B", "protein_names_refseq": "CAP-binding protein complex interacting protein 2; H_NH0514P08.8; protein orai-2 isoform a; protein orai-2; putative protein ORAI2-2; transmembrane protein 142B", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:80228); (R-HSA-139853); (R-HSA-5578775); (R-HSA-983695)", "pathway_count": 4, "publication_count": 174, "publication_id_list": "10051622;10220561;10432293;10498607;10556826;10648173;10706702;10770799;1081164;10880360;10913253;10983984;11042164;11062458;11071869;11226282;11237011;11449366;11606584;11805119;11901194;11904675;11909947;12119109;12181444;12453414;12456653;12573241;12832055;12953268;1372019;1374290;1375264;1376928;15161916;15174025;15187135;15260953;15498874;1550550;15509800;15598648;15754088;1599430;16582901;16754674;16807233;16849466;16906149;1693919;1702903;1705565;17224452;17357072;17442569;17452328;17486119;18006696;18025150;18052078;18187424;18326500;18420269;18596693;18818202;18843204;18995841;19182790;19206206;19249086;19278978;19372136;19706554;19751721;2011584;20192804;20388710;20418871;21108950;21408196;21469132;21822214;22180443;22210847;2226863;22427649;22707725;22972900;2303036;2304550;23362265;23549614;23610579;2430951;2457808;24715725;2477373;2559024;25994790;26154972;26992070;27846572;2838329;28645727;2953725;29557506;30315122;31154438;31217245;31530632;31844290;31998317;32161166;32357974;32387766;32415068;32502341;32722509;32882268;32896813;32897882;32938616;32983136;33141586;33298915;33310726;33392160;33592498;33912179;33936100;33941685;33968037;34171305;34357683;34433824;34857756;3500860;35051231;35318648;35580925;36010968;36241641;36284347;37938771;4589993;6328127;6335036;7524079;7528218;7538118;7592958;7687428;7687539;7688784;7691807;7702581;7927516;7929371;803528;8163536;8306975;8646775;8798450;8918259;8947047;9235916;9326643;9341187;9346285;9382888;9565569;9697839;9705962;9930701", "class_list": "", "function": "Atlas of RNA editing events affecting protein expression in aged and Alzheimer's disease human brain tissue. Publication Status: Online-Only, [RefSeq, PubMed]; Distinct pharmacological profiles of ORAI1, ORAI2, and ORAI3 channels., [RefSeq, PubMed]; ORAI2 Down-Regulation Potentiates SOCE and Decreases Abeta42 Accumulation in Human Neuroglioma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; ORAI2 Promotes Gastric Cancer Tumorigenicity and Metastasis through PI3K/Akt Signaling and MAPK-Dependent Focal Adhesion Disassembly., [RefSeq, PubMed]; Orai-1 and Orai-2 regulate oral cancer cell migration and colonisation by suppressing Akt/mTOR/NF-kappaB signalling., [RefSeq, PubMed]; Pore-forming subunit of inward rectifying Ca(2+) release-activated Ca(2+) (CRAC) channels. Assembles with ORAI1 and ORAI3 to form hexameric CRAC channels that mediate Ca(2+) influx upon depletion of endoplasmic reticulum Ca(2+) store and channel activation by Ca(2+) sensor STIM1, a process known as store-operated Ca(2+) entry (SOCE). Various pore subunit combinations may account for distinct CRAC channel spatiotemporal and cell-type specific dynamics. ORAI1 mainly contributes to the generation of Ca(2+) plateaus involved in sustained Ca(2+) entry and is dispensable for cytosolic Ca(2+) oscillations, whereas ORAI2 and ORAI3 generate oscillatory patterns. CRAC channels assemble in Ca(2+) signaling microdomains where Ca(2+) influx is coupled to calmodulin and calcineurin signaling and activation of NFAT transcription factors recruited to ORAI1 via AKAP5. CRAC channels are the main pathway for Ca(2+) influx in T cells and promote the immune response to pathogens by activating NFAT-dependent cytokine and chemokine transcription., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Results suggest that Orai1, -2, and -3 channels are similarly inhibited by extracellular calcium, indicating similar affinities for Ca(2+) within the selectivity filter., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "Q6IA68;Q8WY94;Q9H9Y3", "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:0015279 store-operated calcium channel activity;GO:0005262 calcium channel activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002115 store-operated calcium entry", "synthesized_glycan_count": 0, "hit_score": 17.5, "record_id": "Q96SN7-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HP4-1", "uniprot_id": [ { "id": "OXND1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HP4", "type": "external" } ], "mass": 34854.0, "length": 312, "protein_name": "Oxidoreductase NAD-binding domain-containing protein 1", "gene_name": "OXNAD1", "organism": "Human", "refseq_name": "oxidoreductase NAD-binding domain-containing protein 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_612390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612390", "type": "external" } ], "gene_names_uniprotkb": "OXNAD1", "gene_names_refseq": "OXNAD1; RFTN1-AS1", "protein_names_uniprotkb": "Oxidoreductase NAD-binding domain-containing protein 1; 1.-.-.-", "protein_names_refseq": "RFTN1 antisense RNA 1; oxidoreductase NAD-binding domain-containing protein 1 isoform 2 precursor; oxidoreductase NAD-binding domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:92106)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10.1101/2023.09.13.557529;11237011;20877624;23481700;25576301;25892735;27862975;27920218;28832583;28904123;29557506;29769354;31530632;31844290;32357974;32502341;32938616;32983136;33298915;33592498;33912179;34171305;34561969;35580925", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2HYC7;Q59FA4", "ec_number_list": [], "go_molecular_function": "GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96HP4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63173-1", "uniprot_id": [ { "id": "RL38_HUMAN", "url": "https://www.uniprot.org/uniprot/P63173", "type": "external" } ], "mass": 8218.0, "length": 70, "protein_name": "Large ribosomal subunit protein eL38", "gene_name": "RPL38", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL38", "refseq_ac": [ { "id": "NP_000990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000990", "type": "external" } ], "gene_names_uniprotkb": "RPL38", "gene_names_refseq": "L38; RPL38; eL38", "protein_names_uniprotkb": "Large ribosomal subunit protein eL38; 60S ribosomal protein L38", "protein_names_refseq": "60S ribosomal protein L38; large ribosomal subunit protein eL38", "tax_id": 9606, "disease": "otitis media (Disease Ontology:DOID:10754)", "pathway": " (hsa:6169); (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": 267, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;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;19608861;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22190735;22195017;22916032;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24715725;25132172;25242263;25418920;25469497;25525153;25576301;25578875;25802875;25969445;26154972;26237581;26552660;26758079;26768311;26811146;26992070;27452731;27526673;27726376;27846572;27893789;27920218;28063628;28065601;28132843;28218747;28228285;28467828;28510447;28649982;28685749;28832583;28834231;28904123;29242379;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632312;29632711;29774024;29786170;30192525;30244831;30293783;30315122;30484775;30779550;30804176;31011209;31217245;31222486;31530632;31611695;31844290;31848261;31998317;32099016;32157095;32161166;32265295;32350084;32387766;32579943;32669547;32938616;33043033;33141586;33214551;33298915;33392160;33406423;33592498;33675855;33717175;33909987;33912179;33926116;33936100;33968037;33981976;34019948;34211107;34229054;34357683;34433824;34561969;34932366;35051231;35138101;35154160;35251023;35580925;36010968;36215666;36241641;36284347;36302773;37217939;37676773;37938771;38158659;38665916;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9375793;9431993;9482744;9582194;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Expression and bioinformatics analysis of RPL38 protein and mRNA in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of the Ribosomal Protein eL38 in HEK293 Cells Changes the Translational Efficiency of Specific Genes. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of the mRNA encoding the ribosomal protein eL38 in mammalian cells causes a substantial reorganization of genomic transcription., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L38E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the type 1 angiotensin II receptor gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2R5A8;P23411", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0014069 postsynaptic density", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 27.0, "record_id": "P63173-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T653-1", "uniprot_id": [ { "id": "RM02_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T653", "type": "external" } ], "mass": 33301.0, "length": 305, "protein_name": "Large ribosomal subunit protein uL2m", "gene_name": "MRPL2", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL2m isoform 2", "refseq_ac": [ { "id": "NP_001287777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287777", "type": "external" } ], "gene_names_uniprotkb": "MRPL2; CGI-22", "gene_names_refseq": "CGI-22; MRP-L14; MRPL2; RPML14; uL2m", "protein_names_uniprotkb": "Large ribosomal subunit protein uL2m; 39S ribosomal protein L2, mitochondrial; L2mt; MRP-L2", "protein_names_refseq": "39S ribosomal protein L2, mitochondrial; L2mt; MRP-L2; large ribosomal subunit protein uL2m isoform 2; mitochondrial large ribosomal subunit protein uL2m", "tax_id": 9606, "disease": "", "pathway": " (hsa:51069); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11543634;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;23481700;24714562;24715725;25233460;25278503;25576301;25645385;25838379;26728094;26992070;27029019;27600516;27846572;28063628;28228285;28510447;28832583;28834231;28892042;29242379;29393594;29493099;29632046;29789417;30315122;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33243891;33392160;33592498;33691108;33717175;33878294;33912179;33968037;33981976;34171305;34561969;34932366;35051231;35177605;35580925;36241641;36302763;36581221;36596788;37141370;38253038;38665916;40596516", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RC56;Q8WUL1;Q96Q56;Q9Y311", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0032543 mitochondrial translation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q5T653-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62910-1", "uniprot_id": [ { "id": "RL32_HUMAN", "url": "https://www.uniprot.org/uniprot/P62910", "type": "external" } ], "mass": 15860.0, "length": 135, "protein_name": "Large ribosomal subunit protein eL32", "gene_name": "RPL32", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL32", "refseq_ac": [ { "id": "NP_000985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000985", "type": "external" } ], "gene_names_uniprotkb": "RPL32; PP9932", "gene_names_refseq": "L32; PP9932; RPL32; eL32", "protein_names_uniprotkb": "Large ribosomal subunit protein eL32; 60S ribosomal protein L32", "protein_names_refseq": "60S ribosomal protein L32; large ribosomal subunit protein eL32", "tax_id": 9606, "disease": "", "pathway": " (hsa:6161); (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": 276, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15498874;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;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22121020;22190735;22195017;22424782;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24366607;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25367160;25418920;25469497;25525153;25576301;25578875;25645385;25892735;25969445;26154972;26237581;26375851;26728094;26758079;26929215;26992070;27452731;27526673;27600516;27846572;27920218;28063628;28065601;28132843;28218747;28228285;28510447;28685749;28832583;28855257;28904123;29242379;29314611;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29632312;29632711;29769354;29786170;30192525;30244831;30293783;30315122;30429286;30484775;30524438;30779550;30804176;30833945;31011209;31020640;31154438;31217245;31530632;31611695;31844290;31848261;32099016;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32579943;32669547;32705264;32897882;32938616;33123756;33141586;33214551;33298915;33392160;33406423;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34211107;34357683;34405274;34509645;34725712;35051231;35138101;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36302773;37217939;37676773;3866218;38665916;39302247;40596516;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Biological effect of ribosomal protein L32 on human breast cancer cell behavior., [RefSeq, PubMed]; Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L32E family of ribosomal proteins. It is located in the cytoplasm. Although some studies have mapped this gene to 3q13.3-q21, it is believed to map to 3p25-p24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding the same protein have been observed 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": 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": "B2R4Q3;P02433", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0022626 cytosolic ribosome;GO:0022625 cytosolic large ribosomal subunit", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 27.9, "record_id": "P62910-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T9L3-1", "uniprot_id": [ { "id": "WLS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T9L3", "type": "external" } ], "mass": 62253.0, "length": 541, "protein_name": "Protein wntless homolog", "gene_name": "WLS", "organism": "Human", "refseq_name": "protein wntless homolog isoform 2", "refseq_ac": [ { "id": "NP_001002292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002292", "type": "external" } ], "gene_names_uniprotkb": "WLS; C1orf139; GPR177; PRO18667", "gene_names_refseq": "C1orf139; EVI; GPR177; MRP; WLS; ZKS; mig-14", "protein_names_uniprotkb": "Protein wntless homolog; EVI; Integral membrane protein GPR177; Protein evenness interrupted homolog; Putative NF-kappa-B-activating protein 373", "protein_names_refseq": "G protein-coupled receptor 177; integral membrane protein GPR177; protein evenness interrupted homolog; protein wntless homolog isoform 2; putative NF-kappa-B-activating protein 373; putative NFkB activating protein 373; wntless Wnt ligand secretion mediator", "tax_id": 9606, "disease": "Zaki syndrome (Disease Ontology:DOID:0070473)", "pathway": " (hsa:79971); (R-HSA-3238698)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10.1101/2023.09.13.557529;10694878;11031247;11231171;11237011;11433298;12717451;12975309;16364628;16645052;16678095;16678096;17108000;17117926;17141155;17397399;18160347;18160348;18193032;18193037;18430724;19442504;19566487;19619488;19837038;20068231;20477987;20533886;20652957;20826466;21554866;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22094269;22094272;22108505;22653731;22784633;22888000;22952392;22983114;23148298;23260141;25576301;25645385;26992070;27600516;28834231;29242379;29393594;29557506;29789417;30429286;30484775;30779550;31154438;31844290;31848261;32157095;32161166;32488085;32938616;32983136;33592498;33968037;33981976;34171305;34405274;34587386;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36374649;36763105;37005218;37106064;38665916;8167409;8262072;8985181", "class_list": "", "function": "Compound heterozygous variants in WLS gene causes Zaki syndrome., [RefSeq, PubMed]; Expanding the phenotypic spectrum and clinical severity associated with WLS gene., [RefSeq, PubMed]; Mutations in the WLS are associated with dental anomalies, torus palatinus, and torus mandibularis., [RefSeq, PubMed]; Regulates Wnt proteins sorting and secretion in a feedback regulatory mechanism. This reciprocal interaction plays a key role in the regulation of expression, subcellular location, binding and organelle-specific association of Wnt proteins (PubMed:34587386). Plays also an important role in establishment of the anterior-posterior body axis formation during development (By similarity)., [UniProtKB, PubMed, PubMed, PubMed]; The role of Evi/Wntless in exporting Wnt proteins. 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RNT2;Q5JRS7;Q7Z2Z9;Q8NC43", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0030902 hindbrain development;GO:0016055 Wnt signaling pathway;GO:0001707 mesoderm formation", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q5T9L3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4VXU2-1", "uniprot_id": [ { "id": "PAP1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4VXU2", "type": "external" } ], "mass": 68862.0, "length": 619, "protein_name": "Polyadenylate-binding protein 1-like", "gene_name": "PABPC1L", "organism": "Human", "refseq_name": "polyadenylate-binding protein 1-like", "refseq_ac": [ { "id": "NP_001359108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001359108", "type": "external" } ], "gene_names_uniprotkb": "PABPC1L; C20orf119; EPAB", "gene_names_refseq": "C20orf119; EPAB; OZEMA22; PABPC1L1; PABPC1L; dJ1069P2.3", "protein_names_uniprotkb": "Polyadenylate-binding protein 1-like; Embryonic poly(A)-binding protein; Poly(A) binding protein cytoplasmic 1 like", "protein_names_refseq": "embryonic poly(A) binding protein; polyadenylate-binding protein 1-like", "tax_id": 9606, "disease": "oocyte/zygote/embryo maturation arrest 22 (MONDO:MONDO:0976137)", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "11237011;18716053;30379171;37052235;37723834;38177974;38382068", "class_list": "", "function": "Human EPAB mRNA is detected in ovaries, testes and several somatic tissues including pancreas, liver and thymus, and EPAB is the predominant poly(A) binding protein in immature (germinal vesicle) and mature (metaphase II) oocytes., [RefSeq, PubMed]; Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility., [RefSeq, PubMed]; PABPC1L Induces IDO1 to Promote Tryptophan Metabolism and Immune Suppression in Renal Cell Carcinoma., [RefSeq, PubMed]; Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage., [RefSeq, PubMed]; Poly(A)-binding protein involved in oocyte maturation and early embryo development (PubMed:37723834, PubMed:37052235). It is required for cytosolic mRNA polyadenylation and translational activation of maternally stored mRNA in oocytes (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; This gene belongs to the polyadenylate-binding protein type-1 family of proteins. Members of this family bind to the polyA tails of mRNAs to regulate mRNA stability and translation. The mouse ortholog of this gene is required for female fertility. In human, expression of a functional protein is regulated by alternative splicing. The protein-coding splice variant for this gene is abundantly expressed in human oocytes, while a noncoding splice variant subject to nonsense-mediated decay is the predominant splice variant expressed in somatic tissues. [provided by RefSeq, Aug 2019]., [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": 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": "A0A6Q8JFT6;Q4VY17", "ec_number_list": [], "go_molecular_function": "GO:0003730 mRNA 3'-UTR binding;GO:0008143 poly(A) binding;GO:0008266 poly(U) RNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0010494 cytoplasmic stress granule;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0001556 oocyte maturation;GO:0045727 positive regulation of translation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q4VXU2-1", "record_type": "protein", "filter_code": "0000000.1000110.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99447-1", "uniprot_id": [ { "id": "PCY2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99447", "type": "external" } ], "mass": 43835.0, "length": 389, "protein_name": "Ethanolamine-phosphate cytidylyltransferase", "gene_name": "PCYT2", "organism": "Human", "refseq_name": "ethanolamine-phosphate cytidylyltransferase isoform 1", "refseq_ac": [ { "id": "NP_001171846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171846", "type": "external" } ], "gene_names_uniprotkb": "PCYT2", "gene_names_refseq": "ET; PCYT2; SPG82", "protein_names_uniprotkb": "Ethanolamine-phosphate cytidylyltransferase; 2.7.7.14; CTP:phosphoethanolamine cytidylyltransferase; Phosphorylethanolamine transferase", "protein_names_refseq": "CTP:phosphoethanolamine cytidylyltransferase; ethanolamine-phosphate cytidylyltransferase isoform 1; phosphorylethanolamine transferase", "tax_id": 9606, "disease": "hereditary spastic paraplegia 82 (Disease Ontology:DOID:0112343)", "pathway": " (hsa:5833); (R-HSA-1483213)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10191259;10893425;11044454;11237011;12216837;12221122;15175005;16023412;17132865;17478478;18583706;19915674;20068231;22241472;23186163;23481700;24275569;25576301;26992070;27600516;28832583;29242379;29557506;30524438;31154438;31637422;31844290;31848261;32157095;32897882;33298915;33592498;33968037;35318648;36241641;36284347;38665916;9083101", "class_list": "", "function": "Ethanolamine-phosphate cytidylyltransferase that catalyzes the second step in the synthesis of phosphatidylethanolamine (PE) from ethanolamine via the CDP-ethanolamine pathway (PubMed:31637422, PubMed:9083101). Phosphatidylethanolamine is a dominant inner-leaflet phospholipid in cell membranes, where it plays a role in membrane function by structurally stabilizing membrane-anchored proteins, and participates in important cellular processes such as cell division, cell fusion, blood coagulation, and apoptosis (PubMed:9083101)., [UniProtKB, PubMed, PubMed]; Our data establish PCYT2 as a disease gene for a new complex hereditary spastic paraplegia and confirm that etherlipid homeostasis is important for the development and function of the brain, [RefSeq, PubMed]; The Pcyt2 promoter is driven by a functional CAAT box (-90/-73) and by negative (-385/-255) and positive regulatory elements (-255/-153) in the upstream regions., [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z7A5;B7ZAS0;F5H8B1;Q6IBM3;Q96G08", "ec_number_list": [ { "id": "2.7.7.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.14", "type": "external" } ], "go_molecular_function": "GO:0004306 ethanolamine-phosphate cytidylyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006646 phosphatidylethanolamine biosynthetic process;GO:0008654 phospholipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q99447-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96E52-1", "uniprot_id": [ { "id": "OMA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96E52", "type": "external" } ], "mass": 60120.0, "length": 524, "protein_name": "Metalloendopeptidase OMA1, mitochondrial", "gene_name": "OMA1", "organism": "Human", "refseq_name": "metalloendopeptidase OMA1, mitochondrial precursor", "refseq_ac": [ { "id": "NP_660286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660286", "type": "external" } ], "gene_names_uniprotkb": "OMA1; MPRP1", "gene_names_refseq": "2010001O09Rik; MPRP-1; MPRP1; OMA1; YKR087C; ZMPOMA1; peptidase", "protein_names_uniprotkb": "Metalloendopeptidase OMA1, mitochondrial; 3.4.24.-; MPRP-1; Metalloprotease-related protein 1; Overlapping with the m-AAA protease 1 homolog", "protein_names_refseq": "OMA1 homolog, zinc metallopeptidase; OMA1 zinc metallopeptidase homolog; metalloendopeptidase OMA1, mitochondrial precursor; metalloendopeptidase OMA1, mitochondrial; metalloprotease-related protein 1; overlapping activity with M-AAA protease; overlapping with the m-AAA protease 1 homolog; zinc metallopeptidase OMA1", "tax_id": 9606, "disease": "", "pathway": " (hsa:115209); (R-HSA-169911); (R-HSA-9837999); (R-HSA-9840373)", "pathway_count": 4, "publication_count": 105, "publication_id_list": "11237011;11923310;12198491;12886954;14623864;15522782;15870080;16115876;16959974;17101804;17297443;17579211;17615298;19001017;19841671;20038677;21220648;22262461;22710082;23201127;23481700;23931759;24315374;24520911;24715725;25275009;25433032;25576301;25605331;25892735;26154972;26375851;26504172;26923599;26992070;27496948;27642048;27846572;27920218;28218747;28228285;28377575;28396416;28832583;28855257;28904123;29242379;29301859;29437277;29545505;29557506;29632046;29632711;29769354;29932645;30120231;30315122;30733118;30779550;31044600;31092671;31327635;31530632;31695197;31844290;31848261;31922487;31998317;32132706;32132707;32157095;32161166;32357974;32387766;32502341;32897882;32938616;33141586;33257573;33298915;33717175;33912179;33936100;33968037;33981976;34211107;34357683;34405274;34509645;34704252;34943861;35051231;35163244;35388015;35870450;36241641;36629048;37327776;37550454;38530280;38604814;39039850;39069370;39894887;7623837", "class_list": "", "function": "Melatonin Rescues Influenza A Virus-Induced Cellular Energy Exhaustion via OMA1-OPA1-S in Acute Exacerbation of COPD., [RefSeq, PubMed]; Metalloprotease that is part of the quality control system in the inner membrane of mitochondria (PubMed:20038677, PubMed:25605331, PubMed:32132706, PubMed:32132707). Activated in response to various mitochondrial stress, leading to the proteolytic cleavage of target proteins, such as OPA1, UQCC3 and DELE1 (PubMed:20038677, PubMed:25275009, PubMed:32132706, PubMed:32132707). Involved in the fusion of the mitochondrial inner membranes by mediating cleavage of OPA1 at S1 position, generating the soluble OPA1 (S-OPA1), which cooperates with the membrane form (L-OPA1) to coordinate the fusion of mitochondrial inner membranes (PubMed:31922487). Following stress conditions that induce loss of mitochondrial membrane potential, mediates cleavage of OPA1, leading to excess production of soluble OPA1 (S-OPA1) and negative regulation of mitochondrial fusion (PubMed:20038677, PubMed:25275009). Involved in mitochondrial safeguard in response to transient mitochondrial membrane depolarization (flickering) by catalyzing cleavage of OPA1, leading to excess production of S-OPA1, preventing mitochondrial hyperfusion (By similarity). Also acts as a regulator of apoptosis: upon BAK and BAX aggregation, mediates cleavage of OPA1, leading to the remodeling of mitochondrial cristae and allowing the release of cytochrome c from mitochondrial cristae (PubMed:25275009). In depolarized mitochondria, may also act as a backup protease for PINK1 by mediating PINK1 cleavage and promoting its subsequent degradation by the proteasome (PubMed:30733118). May also cleave UQCC3 in response to mitochondrial depolarization (PubMed:25605331). Also acts as an activator of the integrated stress response (ISR): in response to mitochondrial stress, mediates cleavage of DELE1 to generate the processed form of DELE1 (S-DELE1), which translocates to the cytosol and activates EIF2AK1/HRI to trigger the ISR (PubMed:32132706, PubMed:32132707). Its role in mitochondrial quality control is essential for regulating lipid metabolism as well as to maintain body temperature and energy expenditure under cold-stress conditions (By similarity). Binds cardiolipin, possibly regulating its protein turnover (By similarity). Required for the stability of the respiratory supercomplexes (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mitochondrial metallopeptidase OMA1 in cancer. Review article, [RefSeq, PubMed]; OMA1 competitively binds to HSPA9 to promote mitophagy and activate the cGAS-STING pathway to mediate GBM immune escape. Erratum:[J Immunother Cancer. 2024 Nov 20;12(11):e008718corr1. doi: 10.1136/jitc-2023-008718corr1. PMID: 39572161] Publication Status: Online-Only, [RefSeq, PubMed]; OMA1 controls OPA1 cleavage and function., [RefSeq, PubMed]; OMA1 protease eliminates arrested protein import intermediates upon mitochondrial depolarization., [RefSeq, PubMed]; These results provide evidence for different substrate specificities of m-AAA proteases composed of different subunits and reveal a striking evolutionary switch of proteases involved in the proteolytic processing of dynamin-like GTPases in mitochondria., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "D3DQ54;Q5T3G6;Q5T3G7;Q5T3G8;Q5T3G9;Q5T3H0;Q8NBB3", "ec_number_list": [ { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "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": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0033108 mitochondrial respiratory chain complex assembly;GO:0006629 lipid metabolic process;GO:0043065 positive regulation of apoptotic process;GO:0097009 energy homeostasis;GO:0006006 glucose metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q96E52-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEJ3-1", "uniprot_id": [ { "id": "SH3R3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEJ3", "type": "external" } ], "mass": 92776.0, "length": 882, "protein_name": "E3 ubiquitin-protein ligase SH3RF3", "gene_name": "SH3RF3", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase SH3RF3", "refseq_ac": [ { "id": "NP_001092759", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092759", "type": "external" } ], "gene_names_uniprotkb": "SH3RF3; POSH2; SH3MD4", "gene_names_refseq": "POSH2; SH3MD4; SH3RF3", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase SH3RF3; 2.3.2.27; Plenty of SH3s 2; SH3 domain-containing RING finger protein 3; SH3 multiple domains protein 4", "protein_names_refseq": "E3 ubiquitin-protein ligase SH3RF3; SH3 domain-containing RING finger protein 3; SH3 multiple domains 4; plenty of SH3s-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:344558)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;16374509;18220336;18669648;18767875;20696164;25645385;29242379;29557506;31217245;32157095;32427938;32938616;33141586;33592498;33968037;34087483;34486645;35051231;35580925;38253038", "class_list": "", "function": "Has E3 ubiquitin-protein ligase activity., [UniProtKB, PubMed]; MiR-192-5p inhibits proliferation, migration, and invasion in papillary thyroid carcinoma cells by regulation of SH3RF3., [RefSeq, PubMed]; POSH2 was found to have a conserved N-terminal extension not present in POSH1 and POSH3. POSH2 has GTP-loaded Rac1 binding activity and this activity was mapped to a partial Cdc42/Rac-interactive binding (CRIB) domain., [RefSeq, PubMed]; SH3RF3 promotes breast cancer stem-like properties via JNK activation and PTX3 upregulation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 24, "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": "A0SDZ7;A8MPR1;Q8NDU1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0046330 positive regulation of JNK cascade;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8TEJ3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRJ2-1", "uniprot_id": [ { "id": "RM45_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRJ2", "type": "external" } ], "mass": 35351.0, "length": 306, "protein_name": "Large ribosomal subunit protein mL45", "gene_name": "MRPL45", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MRPL45", "gene_names_refseq": "", "protein_names_uniprotkb": "Large ribosomal subunit protein mL45; 39S ribosomal protein L45, mitochondrial; L45mt; MRP-L45", "protein_names_refseq": "", "tax_id": 9606, "disease": "atherosclerosis (Disease Ontology:DOID:1936)", "pathway": " (hsa:84311); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 32, "publication_id_list": "11237011;11551941;15358359;17803939;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;25233460;25278503;25838379;27029019;28892042;31844290;32157095;32265295;33243891;33602856;33878294;34171305;35051231;35177605;36302763;36596788;37141370;37938771;38665916;40914422", "class_list": "", "function": "Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:25278503, PubMed:25838379, PubMed:28892042, PubMed:33602856, PubMed:35177605). Within the mitochondrial ribosomes, required to direct the nascent polypeptide toward the tunnel exit and position the exit at a distance from the membrane surface (PubMed:33602856)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Component of the mitochondrial large ribosomal subunit (mt-LSU). Within the mitochondrial ribosomes, required to direct the nascent polypeptide toward the tunnel exit and position the exit at a distance from the membrane surface., [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": 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": "A1L436;Q6ZMJ5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9BRJ2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P39023-1", "uniprot_id": [ { "id": "RL3_HUMAN", "url": "https://www.uniprot.org/uniprot/P39023", "type": "external" } ], "mass": 46109.0, "length": 403, "protein_name": "Large ribosomal subunit protein uL3", "gene_name": "RPL3", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL3 isoform a", "refseq_ac": [ { "id": "NP_000958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000958", "type": "external" } ], "gene_names_uniprotkb": "RPL3; SW-cl.32", "gene_names_refseq": "ASC-1; L3; RPL3; TARBP-B; uL3", "protein_names_uniprotkb": "Large ribosomal subunit protein uL3; 60S ribosomal protein L3; HIV-1 TAR RNA-binding protein B; TARBP-B", "protein_names_refseq": "60S ribosomal protein L3; HIV-1 TAR RNA-binding protein B; large ribosomal subunit protein uL3 isoform a; large ribosomal subunit protein uL3", "tax_id": 9606, "disease": "Shwachman-Diamond syndrome (Disease Ontology:DOID:0060479)", "pathway": " (hsa:6122); (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": 319, "publication_id_list": "10.1101/2023.09.13.557529;10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16963496;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18083107;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18477386;18524595;18539146;1856230;1861871;18657639;18669648;18691976;18767875;18974281;19060897;19106111;19150429;19332556;19359157;19369195;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21136679;21145460;21406692;21419344;22072790;22121020;22190735;22195017;22431104;22869377;22916032;23085078;23186163;23217742;23234702;23269699;23349634;23439679;23481700;23482395;23636399;23685075;23746841;23783831;2388630;24366607;24424021;24524803;24550520;24714562;24715725;25114211;25132172;25242263;25418920;25502872;25525153;25576301;25578875;25645385;25772364;25802875;25969445;26100019;26154972;26237581;26374642;26375851;26728094;26758079;26768311;26992070;27452731;27526673;27543614;27600516;27655845;27726376;27846572;27862975;27920218;28063628;28065601;28132843;28218747;28228285;28446606;28467828;28649982;28685749;28832583;28834231;28855257;28904123;29242379;29314611;29317506;29331515;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632312;29632711;29786170;29789417;30001391;30244831;30293783;30315122;30484775;30524438;30573663;30779550;30804176;31011209;31020640;31154438;31217245;31530632;31611695;31844290;31848261;31998317;32099016;32119511;32157095;32350084;32357974;32373127;32387766;32488085;32502341;32514796;32579943;32669547;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33406423;33537174;33592498;33691108;33693809;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35377127;35561310;35580925;35674491;36010968;36215666;36241641;36284347;36302773;36308067;37217939;37676773;37938771;38665916;39990658;40174224;40914422;429297;592398;592399;641056;6568109;6901506;7576925;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9582194;9631292;9637248;9712840", "class_list": "", "function": "BAIAP2L1 accelerates breast cancer progression and chemoresistance by activating AKT signaling through binding with ribosomal protein L3., [RefSeq, PubMed]; Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547, PubMed:35674491). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed, PubMed]; Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; METTL18-mediated histidine methylation of RPL3 modulates translation elongation for proteostasis maintenance. Publication Status: Online-Only, [RefSeq, PubMed]; Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 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]; Suppression of RPL34 Inhibits Tumor Cell Proliferation and Promotes Apoptosis in Glioblastoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "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": "B2RDV9;Q15548;Q5I0G0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0007283 spermatogenesis;GO:0006412 translation;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 32.4, "record_id": "P39023-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18077-1", "uniprot_id": [ { "id": "RL35A_HUMAN", "url": "https://www.uniprot.org/uniprot/P18077", "type": "external" } ], "mass": 12538.0, "length": 110, "protein_name": "Large ribosomal subunit protein eL33", "gene_name": "RPL35A", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL33", "refseq_ac": [ { "id": "NP_000987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000987", "type": "external" } ], "gene_names_uniprotkb": "RPL35A; GIG33", "gene_names_refseq": "DBA5; L35A; RPL35A; eL33", "protein_names_uniprotkb": "Large ribosomal subunit protein eL33; 60S ribosomal protein L35a; Cell growth-inhibiting gene 33 protein", "protein_names_refseq": "60S ribosomal protein L35a; cell growth-inhibiting gene 33 protein; large ribosomal subunit protein eL33", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 5 (Disease Ontology:DOID:0111883); Diamond-Blackfan anemia (Disease Ontology:DOID:1339); glioblastoma (Disease Ontology:DOID:3068)", "pathway": " (hsa:6165); (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": 274, "publication_id_list": "10203015;10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18535205;18539146;1856230;1861871;18657639;18974281;18991276;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22190735;22195017;22424782;22544926;22916032;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;2388839;24366607;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25525153;25576301;25578875;25892735;25969445;26154972;26237581;26375851;26728094;26811146;26929215;26992070;27397612;27452731;27526673;27600516;27846572;27862975;27920218;28065601;28132843;28228285;28514659;28685749;28832583;28834231;28904123;29242379;29331515;29393594;29413899;29508533;29557506;29632046;29632312;29769354;29786170;30244831;30293783;30315122;30429286;30524438;30779550;30804176;31011209;31020640;31217245;31844290;32099016;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32579943;32669547;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33392160;33406423;33592498;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34229054;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35138101;35251023;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36581221;37676773;37938771;38395908;38436544;38665916;39395807;40930100;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8786106;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547). Required for the proliferation and viability of hematopoietic cells (PubMed:18535205)., [UniProtKB, PubMed, PubMed, PubMed]; Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for the proliferation and viability of hematopoietic cells., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RPL35A drives ovarian cancer progression by promoting the binding of YY1 to CTCF promoter., [RefSeq, PubMed]; RPL35A promotes the progression of cholangiocarcinoma by mediating HSPA8 ubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Alternative splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, 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": 5, "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": "Q08ES9;Q9BVN7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0000049 tRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse;GO:0070062 extracellular exosome", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0042273 ribosomal large subunit biogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction", "synthesized_glycan_count": 0, "hit_score": 27.7, "record_id": "P18077-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYC9-1", "uniprot_id": [ { "id": "RM20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYC9", "type": "external" } ], "mass": 17443.0, "length": 149, "protein_name": "Large ribosomal subunit protein bL20m", "gene_name": "MRPL20", "organism": "Human", "refseq_name": "large ribosomal subunit protein bL20m isoform 1", "refseq_ac": [ { "id": "NP_060441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060441", "type": "external" } ], "gene_names_uniprotkb": "MRPL20", "gene_names_refseq": "L20mt; MRP-L20; MRPL20; bL20m", "protein_names_uniprotkb": "Large ribosomal subunit protein bL20m; 39S ribosomal protein L20, mitochondrial; L20mt; MRP-L20", "protein_names_refseq": "39S ribosomal protein L20, mitochondrial; large ribosomal subunit protein bL20m isoform 1; mitochondrial large ribosomal subunit protein bL20m", "tax_id": 9606, "disease": "", "pathway": " (hsa:55052); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 74, "publication_id_list": "11237011;11279069;15358359;17803939;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;24714562;24715725;25233460;25278503;25418920;25576301;25645385;25838379;26154972;26375851;26728094;26811146;26992070;27029019;27600516;27846572;27862975;27920218;28228285;28446606;28467828;28832583;28834231;28892042;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30573663;31154438;31530632;31844290;31848261;32157095;32265295;32502341;32897882;32938616;32983136;33243891;33592498;33691108;33717175;33878294;33936100;33968037;33981976;35051231;35177605;35580925;36284347;36302763;36596788;37141370", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B2RE41;B7Z746", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome;GO:0005840 ribosome", "go_biological_process": "GO:0032543 mitochondrial translation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9BYC9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61254-1", "uniprot_id": [ { "id": "RL26_HUMAN", "url": "https://www.uniprot.org/uniprot/P61254", "type": "external" } ], "mass": 17258.0, "length": 145, "protein_name": "Large ribosomal subunit protein uL24", "gene_name": "RPL26", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL24", "refseq_ac": [ { "id": "NP_000978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000978", "type": "external" } ], "gene_names_uniprotkb": "RPL26", "gene_names_refseq": "DBA11; L26; RPL26; uL24", "protein_names_uniprotkb": "Large ribosomal subunit protein uL24; 60S ribosomal protein L26", "protein_names_refseq": "60S ribosomal protein L26; large ribosomal subunit protein uL24", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 11 (Disease Ontology:DOID:0111892)", "pathway": " (hsa:6154); (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": 274, "publication_id_list": "10.1101/2023.09.13.557529;10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;14978097;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17145369;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18974281;18991276;19007248;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19691289;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20305658;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21740066;22072790;22190735;22195017;22431104;22916032;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;23783831;2388630;24029068;24424021;24524803;24550520;24715725;25132172;25218447;25242263;25525153;25576301;25578875;25645385;25755297;25772364;25802875;25969445;26100019;26237581;26375851;26992070;27452731;27526673;27600516;27726376;27825141;27846572;27862975;27920218;28065601;28132843;28228285;28288992;28685749;28832583;28834231;29242379;29314611;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29632312;29786170;30244831;30293783;30315122;30429286;30524438;30804176;30833945;31011209;31154438;31217245;31844290;32099016;32119511;32157095;32160526;32161166;32350084;32357974;32387766;32579943;32669547;32897882;32938616;32983136;33043033;33091337;33141586;33214551;33298915;33406423;33592498;33691108;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34405274;34509645;34561969;34932366;35051231;35138101;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302773;37217939;37676773;37938771;38665916;39395807;40930100;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8479925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:23636399, PubMed:26100019, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:26100019, PubMed:32669547)., [UniProtKB, PubMed, PubMed, PubMed]; In colorectal tumor cells RPL26 regulates p73 expression via two distinct mechanisms: protein stability and mRNA translation., [RefSeq, PubMed]; Ionizing radiation (IR) inhibits the activity of SMG1, a phosphoinositide-3-kinase-like kinase family member, reducing the binding of SMG1 to a specific region near exon 9 of p53 precursor mRNA and promoting the binding of ribosomal protein L26 (RPL26) to p53 pre-mRNA, [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "B2R4F0;D3DTR8;Q02877;Q6IPY2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0048027 mRNA 5'-UTR binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0042273 ribosomal large subunit biogenesis;GO:0006412 translation;GO:0045727 positive regulation of translation;GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 27.9, "record_id": "P61254-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQL2-1", "uniprot_id": [ { "id": "RRAGD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQL2", "type": "external" } ], "mass": 45588.0, "length": 400, "protein_name": "Ras-related GTP-binding protein D", "gene_name": "RRAGD", "organism": "Human", "refseq_name": "ras-related GTP-binding protein D", "refseq_ac": [ { "id": "NP_067067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067067", "type": "external" } ], "gene_names_uniprotkb": "RRAGD", "gene_names_refseq": "HOMG7; RAGD; RRAGD; bA11D8.2.1", "protein_names_uniprotkb": "Ras-related GTP-binding protein D; 3.6.5.-; Rag D; RagD", "protein_names_refseq": "Rag D protein; ras-related GTP-binding protein D", "tax_id": 9606, "disease": "follicular lymphoma (Disease Ontology:DOID:0050873); renal hypomagnesemia 7, with or without dilated cardiomyopathy (Disease Ontology:DOID:0060972); candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:58528); (R-HSA-1632852); (R-HSA-165159); (R-HSA-166208); (R-HSA-380972); (R-HSA-5628897); (R-HSA-8943724); (R-HSA-9639288)", "pathway_count": 8, "publication_count": 219, "publication_id_list": "10329961;10654941;10716435;10745013;10980602;11018120;11029283;11034341;11073942;11096062;11340051;11378386;11486029;11545734;11781575;11825910;11959846;12150926;12151408;12161445;12203114;12438239;12453409;12524439;12714747;12742462;12805220;12869586;12906785;13298683;13538944;14511394;14517248;14614828;14651849;14660641;14985505;15105503;15187094;15223;15314020;15579580;15589136;15755954;15809305;15854902;15878852;16098514;16140933;16413492;16418168;16636147;16676006;16702404;16728594;16760263;16839880;16943194;16963840;17081983;1715244;17277771;17298220;17386266;17470430;17486094;17510057;17517883;17540029;17618624;17873065;17974977;18172008;18198340;18321988;18344994;18372248;18391013;18439900;18487508;18497260;18578522;18604198;18669648;18692468;19113821;19211835;19322194;19439913;19440552;19487573;19590496;19651622;19822145;19855179;19884659;19898463;20059746;20080666;20182617;20230923;20233713;20351271;20378837;20381137;20516213;20713597;20921139;21177865;21205641;21258367;21289308;21383122;21460621;21602892;21750704;21819378;21958598;22053050;22128185;22170151;22363791;22575674;22682742;22980980;23202584;23287862;23301498;23685627;23723238;23727157;23775793;23884233;24066844;24081491;24095279;24366874;24383451;24715725;24718924;24747438;24954904;25259925;25263562;25457612;25484072;25561175;25567906;25568151;25579166;25728608;25819761;25961827;25963655;26449471;26586190;26652033;26910647;26972053;26992070;27308486;27487210;27600516;27648300;27920218;28063628;28066558;28199306;28199315;28510447;28832583;28904123;29053970;29056322;29123071;29236692;29393594;29493099;29557506;29632046;29786170;30061680;30181260;30651352;31154438;31530632;31848261;31937595;32157095;32357974;32387766;32612235;32897882;32938616;32983136;33434687;33691108;33912179;33968037;34211107;34509645;34607910;35051231;35058442;35580925;36010968;36241641;37188688;37938771;5666113;7499430;7628435;7979252;7989588;8119488;8549768;8779952;9721431;9926927", "class_list": "", "function": "Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade (PubMed:20381137, PubMed:24095279, PubMed:34607910). Forms heterodimeric Rag complexes with RagA/RRAGA or RagB/RRAGB and cycles between an inactive GTP-bound and an active GDP-bound form: RagD/RRAGD is in its active form when GDP-bound RagD/RRAGD forms a complex with GTP-bound RagA/RRAGA (or RagB/RRAGB) and in an inactive form when GTP-bound RagD/RRAGD heterodimerizes with GDP-bound RagA/RRAGA (or RagB/RRAGB) (PubMed:24095279). In its active form, promotes the recruitment of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB (PubMed:20381137, PubMed:24095279). This is a crucial step in the activation of the MTOR signaling cascade by amino acids (PubMed:20381137, PubMed:24095279). Also plays a central role in the non-canonical mTORC1 complex, which acts independently of RHEB and specifically mediates phosphorylation of MiT/TFE factors TFEB and TFE3: GDP-bound RagD/RRAGD mediates recruitment of MiT/TFE factors TFEB and TFE3 (PubMed:32612235)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; MTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy., [RefSeq, PubMed]; RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]., [RefSeq]; RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Ras related GTP binding D promotes aerobic glycolysis of hepatocellular carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K184;Q7L8F9;Q9NPG0", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec: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": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.6.1.6", "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:0060090 molecular adaptor activity;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046982 protein heterodimerization activity;GO:0051020 GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005764 lysosome", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0010507 negative regulation of autophagy;GO:0032008 positive regulation of TOR signaling;GO:0008104 intracellular protein localization;GO:0009267 cellular response to starvation", "synthesized_glycan_count": 0, "hit_score": 22.2, "record_id": "Q9NQL2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53H96-1", "uniprot_id": [ { "id": "P5CR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53H96", "type": "external" } ], "mass": 28663.0, "length": 274, "protein_name": "Pyrroline-5-carboxylate reductase 3", "gene_name": "PYCR3", "organism": "Human", "refseq_name": "pyrroline-5-carboxylate reductase 3 isoform 2", "refseq_ac": [ { "id": "NP_001316795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316795", "type": "external" } ], "gene_names_uniprotkb": "PYCR3; PYCRL", "gene_names_refseq": "PYCR3; PYCRL", "protein_names_uniprotkb": "Pyrroline-5-carboxylate reductase 3; 1.5.1.2; P5C reductase 3; P5CR 3; Pyrroline-5-carboxylate reductase-like protein", "protein_names_refseq": "P5C reductase 3; P5CR 3; pyrroline-5-carboxylate reductase 3 isoform 2; pyrroline-5-carboxylate reductase-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:65263); (R-HSA-8964539)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "11237011;11903050;12054821;15364907;16267323;16730026;1737786;18005987;19338303;19648921;20657015;23024808;25418920;25865492;25880248;26902786;26992070;2722838;27846572;27920218;28228285;28446606;28832583;28904123;29242379;29393594;30192525;30315122;30524438;31422819;31844290;32157095;32938616;33298915;33936100;33968037;34019948;34211107;34509645;35051231;36010968;36241641;36414121;38642827;4052435;429360;6819292;7883047;8294935;9514741", "class_list": "", "function": "Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate (P5C) to L-proline using NAD(P)H. Proline is synthesized from either glutamate or ornithine; both are converted to P5C, and then to proline via pyrroline-5-carboxylate reductases (PYCRs). PYCR3 is exclusively linked to the biosynthesis of proline from ornithine., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; PYCR3 modulates mtDNA copy number to drive proliferation and doxorubicin resistance in triple-negative breast cancer., [RefSeq, PubMed]; This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B3KMB5;B4DVT6;H0Y6C3;Q8N3N9;Q96HX4;Q9H896", "ec_number_list": [ { "id": "1.5.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.1.2", "type": "external" } ], "go_molecular_function": "GO:0004735 pyrroline-5-carboxylate reductase activity;GO:0042802 identical protein binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0055129 L-proline biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q53H96-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBF2-1", "uniprot_id": [ { "id": "PXL2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBF2", "type": "external" } ], "mass": 21223.0, "length": 198, "protein_name": "Prostamide/prostaglandin F synthase", "gene_name": "PRXL2B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRXL2B; C1orf93; FAM213B", "gene_names_refseq": "", "protein_names_uniprotkb": "Prostamide/prostaglandin F synthase; 1.11.1.20; PM/PGFS; Peroxiredoxin-like 2B; Prostamide/PG F synthase; Prostamide/PGF synthase; Protein FAM213B", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:127281); (R-HSA-2162123)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10377455;10622721;10922363;10966456;11237011;11297515;11465543;11672424;12627223;12835322;1380156;14979715;15047184;15115769;16475787;16828555;17449869;17641676;18006499;18493841;18682561;19000823;20036328;20667974;20950588;21467029;23186163;23481700;24366607;25576301;25645385;25880248;26154972;26375851;26992070;27846572;28832583;29242379;29508533;29557506;29786170;31844290;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33537174;33592498;34171305;34509645;34932366;35051231;35580925;36010968;3862115;3954355;4514999;4521806;4776443;5284360;7005231;7552725;7925341;7947975;8175750;8901870;9139685;9219313;9626023", "class_list": "", "function": "Catalyzes the reduction of prostaglandin-ethanolamide H(2) (prostamide H(2)) to prostamide F(2alpha) with NADPH as proton donor. Also able to reduce prostaglandin H(2) to prostaglandin F(2alpha) (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K793;B3KPY3;B4DQR9;B4E0S5;B7ZAC8;B9DI90;B9DI92;J3KQD0;Q8N2H0", "ec_number_list": [ { "id": "1.11.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.20", "type": "external" } ], "go_molecular_function": "GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0036130 prostaglandin H2 endoperoxidase reductase activity;GO:0047017 prostaglandin F synthase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0043209 myelin sheath", "go_biological_process": "GO:0019371 cyclooxygenase pathway;GO:0001516 prostaglandin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q8TBF2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0X9-1", "uniprot_id": [ { "id": "OSBL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0X9", "type": "external" } ], "mass": 98616.0, "length": 879, "protein_name": "Oxysterol-binding protein-related protein 5", "gene_name": "OSBPL5", "organism": "Human", "refseq_name": "oxysterol-binding protein-related protein 5 isoform b", "refseq_ac": [ { "id": "NP_001137535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137535", "type": "external" } ], "gene_names_uniprotkb": "OSBPL5; KIAA1534; OBPH1; ORP5", "gene_names_refseq": "OBPH1; ORP5; OSBPL5", "protein_names_uniprotkb": "Oxysterol-binding protein-related protein 5; ORP-5; OSBP-related protein 5; Oxysterol-binding protein homolog 1", "protein_names_refseq": "ORP-5; OSBP-related protein 5; oxysterol-binding protein homolog 1; oxysterol-binding protein homologue 1; oxysterol-binding protein-related protein 5 isoform b; oxysterol-binding protein-related protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:114879); (R-HSA-1482801)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10196188;10455175;10681567;11031251;11112443;11230166;11237011;11483621;11735225;11830583;12161451;12359733;12504849;12522102;17081983;17101204;17428193;18287005;18458083;18614531;18669648;18691976;18767875;18772128;19554302;20068231;20644730;20705608;21220512;22906437;23186163;23934110;25576301;25645385;26206935;26992070;27846572;27862975;28228285;28832583;28834231;2925608;29472386;29557506;29748134;30220461;30315122;30429286;30779550;30833945;31154438;31844290;31848261;32157095;32387766;32502341;32570981;32897882;32938616;32983136;33141586;33392160;33537174;33592498;33968037;34405274;34509645;35051231;35580925;36010968;36215666;37314629;7060561;8300559;9188469", "class_list": "", "function": "Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:23934110, PubMed:26206935). May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes (PubMed:21220512). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; OBPH1/Obph1 gene is imprinted, with preferential expression from the maternal allele in human and mouse., [RefSeq, PubMed]; ORP5 and ORP8: Sterol Sensors and Phospholipid Transfer Proteins at Membrane Contact Sites? Review article Publication Status: Online-Only, [RefSeq, PubMed]; ORP5 promotes migration and invasion of cervical cancer cells by inhibiting endoplasmic reticulum stress., [RefSeq, PubMed]; ORP5/8 recruitment to the plasma membrane occurs through interactions with the N-terminal Pleckstrin homology domains and adjacent basic residues of ORP5/8 with both phosphatidylinositol 4-phosphate and Phosphatidylinositol 4,5-bisphosphate., [RefSeq, PubMed]; ORP5/8 regulate Ca(2+) signaling at specific membrane contact sites foci., [RefSeq, PubMed]; This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "A6NDP0;A6NJS8;B4DVB0;Q54A90;Q8N596;Q9BZB0;Q9P1Z4", "ec_number_list": [], "go_molecular_function": "GO:0008142 oxysterol binding;GO:0005548 phospholipid transporter activity;GO:0015485 cholesterol binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0001786 phosphatidylserine binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0140268 endoplasmic reticulum-plasma membrane contact site;GO:1990351 transporter complex", "go_biological_process": "GO:0008203 cholesterol metabolic process;GO:0015914 phospholipid transport;GO:0030301 cholesterol transport;GO:0036150 phosphatidylserine acyl-chain remodeling;GO:0006893 Golgi to plasma membrane transport", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9H0X9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q587J7-1", "uniprot_id": [ { "id": "TDR12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q587J7", "type": "external" } ], "mass": 132578.0, "length": 1177, "protein_name": "Putative ATP-dependent RNA helicase TDRD12", "gene_name": "TDRD12", "organism": "Human", "refseq_name": "putative ATP-dependent RNA helicase TDRD12 isoform 2", "refseq_ac": [ { "id": "NP_001104292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104292", "type": "external" } ], "gene_names_uniprotkb": "TDRD12; ECAT8", "gene_names_refseq": "ECAT8; TDRD12", "protein_names_uniprotkb": "Putative ATP-dependent RNA helicase TDRD12; 3.6.4.13; ES cell-associated transcript 8 protein; Tudor domain-containing protein 12", "protein_names_refseq": "ES cell associated transcript 8; ES cell-associated transcript 8 protein; putative ATP-dependent RNA helicase TDRD12 isoform 2; putative ATP-dependent RNA helicase TDRD12; tudor domain-containing protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:91646); (R-HSA-5601884)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "11237011;12787504;18922463;21465557;22233380;23056369;23826142;23980886;24656595;24714562;27600516;28860189;29331515;29557506;29786170;32059713;34087483;35051231", "class_list": "", "function": "Here we evaluate gene and protein expression levels of four key TDRDs (TDRD1, TDRD5, TDRD9 and TDRD12) in testicular biopsy samples obtained from men with obstructive azoospermia (OA, n = 29), as controls, and various types of non-obstructive azoospermia containing hypospermatogenesis (HP, 28), maturation arrest (MA, n = 30), and Sertoli cell-only syndrome (SCOS, n = 32) as cases. Publication Status: Online-Only, [RefSeq, PubMed]; Probable ATP-binding RNA helicase required during spermatogenesis to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the secondary piRNAs metabolic process. Acts via the PET complex, a multiprotein complex required during the secondary piRNAs metabolic process for the PIWIL2 slicing-triggered loading of PIWIL4 piRNAs., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "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": "2.1.1.386", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.386", "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": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003676 nucleic acid binding;GO:0003724 RNA helicase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:1990923 PET complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0009566 fertilization;GO:0007140 male meiotic nuclear division;GO:0034587 piRNA processing;GO:0042078 germ-line stem cell division", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q587J7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24752-1", "uniprot_id": [ { "id": "THIL_HUMAN", "url": "https://www.uniprot.org/uniprot/P24752", "type": "external" } ], "mass": 45200.0, "length": 427, "protein_name": "Acetyl-CoA acetyltransferase, mitochondrial", "gene_name": "ACAT1", "organism": "Human", "refseq_name": "acetyl-CoA acetyltransferase, mitochondrial isoform b precursor", "refseq_ac": [ { "id": "NP_000010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000010", "type": "external" } ], "gene_names_uniprotkb": "ACAT1; ACAT; MAT", "gene_names_refseq": "ACAT1; ACAT; MAT; T2; THIL", "protein_names_uniprotkb": "Acetyl-CoA acetyltransferase, mitochondrial; 2.3.1.9; Acetoacetyl-CoA thiolase; T2", "protein_names_refseq": "acetoacetyl Coenzyme A thiolase; acetyl-CoA acetyltransferase, mitochondrial isoform b precursor; acetyl-CoA acetyltransferase, mitochondrial; acetyl-Coenzyme A acetyltransferase 1; mitochondrial acetoacetyl-CoA thiolase; testicular tissue protein Li 198", "tax_id": 9606, "disease": "nephrotic syndrome (Disease Ontology:DOID:1184); beta-ketothiolase deficiency (Disease Ontology:DOID:14723); arteriosclerosis (Disease Ontology:DOID:2349); carbohydrate metabolic disorder (Disease Ontology:DOID:2978); end stage renal disease (Disease Ontology:DOID:783); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:38); (R-HSA-70895); (R-HSA-77108); (R-HSA-77111); (R-HSA-9837999); (R-HSA-9854311); (R-HSA-9915355)", "pathway_count": 7, "publication_count": 173, "publication_id_list": "10832746;10947204;11013134;11181649;11237011;11264579;11406611;11479731;11738050;11756565;11923310;12198491;12269802;12359132;12434311;12623130;12696021;13416257;1346617;14623864;14752098;15166214;15242332;15247478;1527093;15342248;15522782;15576032;15870080;16023992;16115876;16141215;16380372;1639787;1684944;17101804;1715688;17297443;17371050;17579211;17762044;17923681;19608861;19628817;1979337;19841671;20068231;20102333;20167786;22262461;22291014;22299025;22416140;22710082;22847177;22865860;22898188;22956686;23201127;23396451;23481700;23485643;23931759;24315374;24449431;24520911;24714562;24715725;24954416;24954417;25576301;26154972;26251176;26375851;26504172;26728094;26749241;26758079;26811146;26923599;27452731;27496948;27600516;27642048;27846572;27867011;28063628;28228285;28377575;28380382;28391595;28396416;28467828;28489076;28510447;28514659;28832583;28887308;29242379;29301859;29393594;29557506;29632046;29932645;30120231;30315122;30573663;3082934;31327635;31435015;31695197;31844290;32157095;32161166;32350084;32357974;32897882;32938616;32983136;33141586;33257573;33298915;33465208;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34289383;34357683;34405274;34704252;34932366;34943861;35051231;35154160;35251023;35870450;3597357;36010968;36215666;36241641;36629048;36890220;37074911;3709573;37185457;37217939;37938771;38289172;38665916;38684297;39247186;40596516;40914422;6928646;7061490;7356336;7623837;7728148;7749408;7907600;8440722;8751852;8824301;9165094;9214289;9744475;9889013;9989622", "class_list": "", "function": "ACAT1-mediated METTL3 acetylation inhibits cell migration and invasion in triple negative breast cancer., [RefSeq, PubMed]; Elevated serum beta-hydroxybutyrate, a circulating ketone metabolite, accelerates colorectal cancer proliferation and metastasis via ACAT1., [RefSeq, PubMed]; From mitochondria to tumor suppression: ACAT1's crucial role in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing lncRNA-DARS-AS1 suppresses nonsmall cell lung cancer progression by stimulating miR-302a-3p to inhibit ACAT1 expression., [RefSeq, PubMed]; This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]., [RefSeq]; This is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (PubMed:1715688, PubMed:7728148, PubMed:9744475). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (PubMed:1715688, PubMed:7728148, PubMed:9744475). The activity of the enzyme is reversible and it can also catalyze the condensation of two acetyl-CoA molecules into acetoacetyl-CoA (PubMed:17371050). Thereby, it plays a major role in ketone body metabolism (PubMed:1715688, PubMed:17371050, PubMed:7728148, PubMed:9744475)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; [Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R6H1;G3XAB4;Q96FG8", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "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": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.1.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.41", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "3.4.21.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.92", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" } ], "go_molecular_function": "GO:0120225 coenzyme A binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0030955 potassium ion binding;GO:0034736 cholesterol O-acyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005783 endoplasmic reticulum;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001889 liver development;GO:0006635 fatty acid beta-oxidation;GO:0042594 response to starvation;GO:0060612 adipose tissue development;GO:0006085 acetyl-CoA biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "P24752-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6U7-1", "uniprot_id": [ { "id": "RN215_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6U7", "type": "external" } ], "mass": 41101.0, "length": 377, "protein_name": "RING finger protein 215", "gene_name": "RNF215", "organism": "Human", "refseq_name": "RING finger protein 215 precursor", "refseq_ac": [ { "id": "NP_001017981", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017981", "type": "external" } ], "gene_names_uniprotkb": "RNF215", "gene_names_refseq": "RNF215", "protein_names_uniprotkb": "RING finger protein 215", "protein_names_refseq": "RING finger protein 215 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:200312)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18477386;25576301;28832583;28904123;29393594;31844290;32357974;32488085;32502341;33298915", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": "A6NEL1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9Y6U7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6DKJ4-1", "uniprot_id": [ { "id": "NXN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6DKJ4", "type": "external" } ], "mass": 48392.0, "length": 435, "protein_name": "Nucleoredoxin", "gene_name": "NXN", "organism": "Human", "refseq_name": "nucleoredoxin isoform 2", "refseq_ac": [ { "id": "NP_001192248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192248", "type": "external" } ], "gene_names_uniprotkb": "NXN; NRX", "gene_names_refseq": "NRX; NXN; RRS2; TRG-4", "protein_names_uniprotkb": "Nucleoredoxin; 1.8.1.8", "protein_names_refseq": "nucleoredoxin 1; nucleoredoxin isoform 2", "tax_id": 9606, "disease": "autosomal recessive Robinow syndrome 2 (Disease Ontology:DOID:0060974)", "pathway": " (hsa:64359)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;16764867;17567240;19308021;20068231;21251912;27600516;29276006;29331515;29393594;29557506;29786170;31154438;31844290;32157095;32938616;33048444;33592498;33968037;35051231;35406633;35580925;35927236;36010968;36241641;36284347;37938771;38665916", "class_list": "", "function": "Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A) (By similarity)., [UniProtKB, UniProtKB]; Identified nucleoredoxin as an interaction partner of Sec63; characterized this interaction; Sec63 is linked to the Wnt signaling pathways and this interaction may be the reason why mutations in SEC63 can lead to polycystic liver disease, [RefSeq, PubMed]; NXN Gene Epigenetic Changes in an Adult Neurogenesis Model of Alzheimer's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; NXN suppresses metastasis of hepatocellular carcinoma by promoting degradation of Snail through binding to DUB3. Publication Status: Online-Only, [RefSeq, PubMed]; Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome., [RefSeq, PubMed]; Nucleoredoxin is a novel thioredoxin family member involved in cell growth and differentiation [review] Review article, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DXQ0;D3DTH2;Q3SWW6;Q6P3U6;Q7L4C6;Q9H9Q1", "ec_number_list": [ { "id": "1.8.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.8", "type": "external" } ], "go_molecular_function": "GO:0004791 thioredoxin-disulfide reductase (NADPH) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0072359 circulatory system development;GO:0030154 cell differentiation;GO:0016055 Wnt signaling pathway;GO:0030178 negative regulation of Wnt signaling pathway;GO:0031397 negative regulation of protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q6DKJ4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RQ9-1", "uniprot_id": [ { "id": "OXLA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RQ9", "type": "external" } ], "mass": 62881.0, "length": 567, "protein_name": "L-amino-acid oxidase", "gene_name": "IL4I1", "organism": "Human", "refseq_name": "L-amino-acid oxidase isoform 2 precursor", "refseq_ac": [ { "id": "NP_001244946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244946", "type": "external" } ], "gene_names_uniprotkb": "IL4I1; FIG1; PRO1265", "gene_names_refseq": "FIG1; IL4I1; LAAO; LAO; hIL4I1", "protein_names_uniprotkb": "L-amino-acid oxidase; 1.4.3.25; 1.4.3.2; IL4-induced protein 1; Interleukin-4-induced protein 1; LAAO; LAO; Protein Fig-1; hFIG1; hIL4I1", "protein_names_refseq": "Fig-1 protein; IL4-induced protein 1; L-amino-acid oxidase isoform 2 precursor; L-amino-acid oxidase; interleukin four induced 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:259307); (R-HSA-8964208)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12031486;12446450;12975309;15340161;15364907;16029492;17356132;18446792;19159218;19338303;19436310;19839645;22299025;22861376;22891768;23355881;23481700;23555621;23719902;24190977;24715725;24768817;25446972;25502872;25576301;25767141;25778793;25802875;25892735;26154972;26673964;27726376;27846572;27920218;28063628;28228285;28467828;28832583;28834231;28871256;28891065;29242379;29493099;29508533;29557506;29632046;29741879;29769354;29786170;30315122;3033643;30573663;31092671;31812258;31844290;31848261;31998317;32157095;32161166;32162841;32350084;32502341;32818467;32866000;32983136;33043033;33141586;33298915;33392160;33691108;33717175;33912179;33936100;34078123;34211107;34357683;34433824;34561969;34932366;35051231;35154160;35580925;36131918;36834576;36913096;37074911;37196768;38250074;7744010;7883047;8262916;8294935;8352282;8444860;8889590;9642259", "class_list": "", "function": "Genomic structure, cDNA sequence, chromosome location and RNA expression in immune tissues, [RefSeq, PubMed]; Human Chorionic Gonadotropin-Stimulated Interleukin-4-Induced-1 (IL4I1) Promotes Human Decidualization via Aryl Hydrocarbon Receptor. Publication Status: Online-Only, [RefSeq, PubMed]; IL4I1 binds to TMPRSS13 and competes with SARS-CoV-2 spike. Publication Status: Online-Only, [RefSeq, PubMed]; IL4I1 in M2-like macrophage promotes glioma progression and is a promising target for immunotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; IL4i1 and IDO1: Oxidases that control a tryptophan metabolic nexus in cancer. Review article, [RefSeq, PubMed]; Is activated in primary mediastinal large B-cell lymphoma, which might be due to a constitutive activation of a cytokine signaling pathway, [RefSeq, PubMed]; Knockdown of IL4I1 Improved High Glucose-evoked Insulin Resistance in HepG2 Cells by Alleviating Inflammation and Lipotoxicity Through AHR Activation., [RefSeq, PubMed]; Secreted L-amino-acid oxidase that acts as a key immunoregulator (PubMed:17356132, PubMed:32818467, PubMed:32866000). Has preference for L-aromatic amino acids: converts phenylalanine (Phe), tyrosine (Tyr) and tryptophan (Trp) to phenylpyruvic acid (PP), hydroxyphenylpyruvic acid (HPP), and indole-3-pyruvic acid (I3P), respectively (PubMed:17356132, PubMed:32818467, PubMed:32866000). Also has weak L-arginine oxidase activity (PubMed:26673964). Acts as a negative regulator of anti-tumor immunity by mediating Trp degradation via an indole pyruvate pathway that activates the transcription factor AHR (PubMed:32818467, PubMed:32866000). IL4I1-mediated Trp catabolism generates I3P, giving rise to indole metabolites (indole-3-acetic acid (IAA) and indole-3-aldehyde (I3A)) and kynurenic acid, which act as ligands for AHR, a ligand-activated transcription factor that plays important roles in immunity and cancer (PubMed:32818467, PubMed:32866000). AHR activation by indoles following IL4I1-mediated Trp degradation enhances tumor progression by promoting cancer cell motility and suppressing adaptive immunity (PubMed:32818467). Also has an immunoregulatory function in some immune cells, probably by mediating Trp degradation and promoting downstream AHR activation: inhibits T-cell activation and proliferation, promotes the differentiation of naive CD4(+) T-cells into FOXP3(+) regulatory T-cells (Treg) and regulates the development and function of B-cells (PubMed:17356132, PubMed:25446972, PubMed:25778793, PubMed:28891065). Also regulates M2 macrophage polarization by inhibiting T-cell activation (By similarity). Also has antibacterial properties by inhibiting growth of Gram negative and Gram positive bacteria through the production of NH4(+) and H2O2 (PubMed:23355881)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a secreted L-amino acid oxidase protein which primarily catabolizes L-phenylalanine and, to a lesser extent, L-arginine. The expression of this gene is induced by the cytokine interleukin 4 in B cells. This gene is also expressed in macrophages and dendritic cells. This protein may play a role immune system escape as it is expressed in tumor-associated macrophages and suppresses T-cell responses. This protein also contains domains thought to be involved in the binding of flavin adenine dinucleotide (FAD) cofactor. Multiple transcript variants encoding different isoforms have been found for this gene. Some transcripts of this gene share a promoter and exons of the 5' UTR with the overlapping NUP62 gene. [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 16, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q1WMJ3;Q4GZN1;Q4GZN2;Q6P2Q3;Q8TEM5;Q96RQ8", "ec_number_list": [ { "id": "1.4.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.2", "type": "external" }, { "id": "1.4.3.25", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.25", "type": "external" } ], "go_molecular_function": "GO:0001716 L-amino-acid oxidase activity;GO:0106329 L-phenylalaine oxidase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005764 lysosome;GO:0001669 acrosomal vesicle;GO:0097225 sperm midpiece;GO:0001772 immunological synapse", "go_biological_process": "GO:0045577 regulation of B cell differentiation;GO:0006569 L-tryptophan catabolic process;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0042130 negative regulation of T cell proliferation;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q96RQ9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10646-1", "uniprot_id": [ { "id": "TFPI1_HUMAN", "url": "https://www.uniprot.org/uniprot/P10646", "type": "external" } ], "mass": 35015.0, "length": 304, "protein_name": "Tissue factor pathway inhibitor", "gene_name": "TFPI", "organism": "Human", "refseq_name": "tissue factor pathway inhibitor isoform b precursor", "refseq_ac": [ { "id": "NP_001027452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027452", "type": "external" } ], "gene_names_uniprotkb": "TFPI; LACI; TFPI1", "gene_names_refseq": "EPI; LACI; TFI; TFPI1; TFPI", "protein_names_uniprotkb": "Tissue factor pathway inhibitor; EPI; Extrinsic pathway inhibitor; LACI; Lipoprotein-associated coagulation inhibitor; TFPI", "protein_names_refseq": "anti-convertin; extrinsic pathway inhibitor; tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor); tissue factor pathway inhibitor isoform b precursor", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); atrial fibrillation (Disease Ontology:DOID:0060224); B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630); graft-versus-host disease (Disease Ontology:DOID:0081267); preterm premature rupture of the membranes (Disease Ontology:DOID:0111144); osteonecrosis (Disease Ontology:DOID:10159); pre-eclampsia (Disease Ontology:DOID:10591); thrombotic thrombocytopenic purpura (Disease Ontology:DOID:10772); disseminated intravascular coagulation (Disease Ontology:DOID:11247); familial hyperlipidemia (Disease Ontology:DOID:1168); nephrotic syndrome (Disease Ontology:DOID:1184); factor VIII deficiency (Disease Ontology:DOID:12134); leukemia (Disease Ontology:DOID:1240); toxic shock syndrome (Disease Ontology:DOID:14115); disease of cellular proliferation (Disease Ontology:DOID:14566); factor V deficiency (Disease Ontology:DOID:2216); transient cerebral ischemia (Disease Ontology:DOID:224); protein S deficiency (Disease Ontology:DOID:2451); pulmonary fibrosis (Disease Ontology:DOID:3770); liver cirrhosis (Disease Ontology:DOID:5082); ovarian hyperstimulation syndrome (Disease Ontology:DOID:5425); myocardial infarction (Disease Ontology:DOID:5844); systemic lupus erythematosus (Disease Ontology:DOID:9074); diabetes mellitus (Disease Ontology:DOID:9351)", "pathway": " (hsa:7035)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10391209;11237011;11772005;1388166;15340161;16335952;19017259;1993173;2002045;20676107;20934997;22028470;22144186;2271516;22898188;23090970;23584533;24190977;2452157;2553722;25576301;2781520;27846572;27862975;2927510;30459171;31364055;31844290;31848261;32157095;32161166;32350084;32897882;33298915;33592498;33968037;33981976;34087483;34171305;34405274;35051231;35251023;36010968;36241641;36284347;37030150;37074911;37660436;38501385;38945092;8639592;9199408;9242660", "class_list": "", "function": "Activated protein C, protein S, and tissue factor pathway inhibitor cooperate to inhibit thrombin activation., [RefSeq, PubMed]; Elevated TFPI is a prognostic factor in hepatocellular carcinoma: Putative role of miR-7-5p and miR-1236-3p., [RefSeq, PubMed]; Endothelial-dependent S-Sulfhydration of tissue factor pathway inhibitor regulates blood coagulation., [RefSeq, PubMed]; Inhibits factor X (X(a)) directly and, in a Xa-dependent way, inhibits VIIa/tissue factor activity, presumably by forming a quaternary Xa/LACI/VIIa/TF complex. It possesses an antithrombotic action and also the ability to associate with lipoproteins in plasma., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The RNA-binding protein sorbin and SH3 domain-containing 2 are transcriptionally regulated by specificity protein 1 and function as tumor suppressors in bladder cancer by stabilizing tissue factor pathway inhibitor., [RefSeq, PubMed]; This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 11, "reported_phosphosites": 2, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 45, "disease_count": 24, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "O95103;Q53TS4", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0005901 caveola", "go_biological_process": "GO:0007596 blood coagulation;GO:0030195 negative regulation of blood coagulation;GO:0071383 cellular response to steroid hormone stimulus", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "P10646-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UP65-1", "uniprot_id": [ { "id": "PA24C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UP65", "type": "external" } ], "mass": 60939.0, "length": 541, "protein_name": "Cytosolic phospholipase A2 gamma", "gene_name": "PLA2G4C", "organism": "Human", "refseq_name": "cytosolic phospholipase A2 gamma isoform 2 precursor", "refseq_ac": [ { "id": "NP_001152794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001152794", "type": "external" } ], "gene_names_uniprotkb": "PLA2G4C", "gene_names_refseq": "CPLA2-gamma; PLA2G4C", "protein_names_uniprotkb": "Cytosolic phospholipase A2 gamma; 2.3.1.-; 3.1.1.4; 3.1.1.5; Cytosolic lysophospholipase; Cytosolic lysophospholipid O-acyltransferase; Phospholipase A2 group IVC; cPLA2-gamma", "protein_names_refseq": "cytosolic lysophospholipase; cytosolic lysophospholipid O-acyltransferase; cytosolic phospholipase A2 gamma isoform 2 precursor; cytosolic phospholipase A2 gamma; phospholipase A2, group IVC (cytosolic, calcium-independent)", "tax_id": 9606, "disease": "", "pathway": " (hsa:8605); (R-HSA-1482788); (R-HSA-1482839); (R-HSA-1482922); (R-HSA-1483115); (R-HSA-1483152)", "pathway_count": 6, "publication_count": 91, "publication_id_list": "10085124;10092508;10092647;10336645;10358058;10455175;10681567;11031251;11112443;11237011;11790796;11830583;11958371;12150957;12161451;12359733;12522102;14529291;14709560;15695510;15863501;15944408;1618844;16243729;16617059;16704971;16818490;16864775;17182612;18088087;18094042;18195019;18287005;18458083;18614531;18772128;18781350;19019078;1904318;19351971;19501189;20166139;20705608;21515882;22605381;22825852;23015700;24275569;24715725;25576301;26154972;26375851;26463208;26503625;27611910;27846572;28228285;28336330;28639618;28651698;28832583;28904123;2925608;2925633;29557506;29632046;29786170;30410026;31154438;31217245;31844290;31848261;32157095;32938616;32983136;33141586;33633747;33717175;33968037;34932366;35051231;35580925;37290257;37938771;7060561;8083230;8300559;9188469;9417066;9525960;9705332", "class_list": "", "function": "(Microbial infection) May facilitate human T-lymphotropic virus type 1 (HTLV-1) infection by promoting leukotriene B4 (LTB4) biosynthesis. LTB4 acts as a chemoattractant for HTLV-1-infected CD4-positive T cells and favors cell to cell viral transmission., [UniProtKB, PubMed]; (Microbial infection) May play a role in replication and assembly of human hepatitis C virus (HCV) (PubMed:23015700, PubMed:28336330). In response to HCV infection, promotes remodeling of host endoplasmic reticulum membranes to form organelle-like structures called membranous web, where HCV replication occur (PubMed:23015700). Can further mediate translocation of replication complexes to lipid droplets to enable virion assembly (PubMed:23015700, PubMed:28336330)., [UniProtKB, PubMed, PubMed]; Association between PLA2 gene polymorphisms and treatment response to antipsychotic medications: A study of antipsychotic-naive first-episode psychosis patients and nonadherent chronic psychosis patients., [RefSeq, PubMed]; Calcium-independent phospholipase, lysophospholipase and O-acyltransferase involved in phospholipid remodeling with implications in endoplasmic reticulum membrane homeostasis and lipid droplet biogenesis (PubMed:10085124, PubMed:10358058, PubMed:19501189, PubMed:28336330, PubMed:9705332). Preferentially hydrolyzes the ester bond of the fatty acyl group attached at the sn-2 position of phospholipids with choline and ethanolamine head groups, producing lysophospholipids that are used in deacylation-reacylation cycles (PubMed:10085124, PubMed:10358058, PubMed:19501189, PubMed:28336330, PubMed:9705332). Transfers the sn-1 fatty acyl from one lysophospholipid molecule to the sn-2 position of another lysophospholipid to form diacyl, alkylacyl and alkenylacyl glycerophospholipids. Cleaves ester bonds but not alkyl or alkenyl ether bonds at sn-1 position of lysophospholipids (PubMed:15944408, PubMed:19501189). Catalyzes sn-2 fatty acyl transfer from phospholipids to the sn-2 position of 1-O-alkyl or 1-O-alkenyl lysophospholipids with lower efficiency (PubMed:15944408, PubMed:19501189). In response to dietary fatty acids, may play a role in the formation of nascent lipid droplets from the endoplasmic reticulum likely by regulating the phospholipid composition of these organelles (PubMed:28336330)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Five single-nucleotide polymorphisms (SNPs) (rs9226, rs1045376, rs251684, rs2307279, and rs156631) in PLA2G4C and four SNPs (rs6533451, rs2285714, rs2285713, and rs11728699) in PLA2G12A were selected and genotyped. Our results showed a significant association between ASD and the rs251684 variant of PLA2G4C. The rs251684 polymorphism of PLA2G4C may be associated with Autism Spectrum Disorder risk., [RefSeq, PubMed]; Novel PLA2G4C polymorphism as a molecular diagnostic A minisatellite polymorphism in the untranslated region of exon 1, with allelic variants that have one, two or three 27-bp repeats, [RefSeq, PubMed]; This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]., [RefSeq]; We found no significant influence of the PLA2G6 and PLA2G4C polymorphisms on mean age at first hospital admission (P > 0.05) and that the investigated polymorphisms significantly influenced the clinical psychopathology only in male patients. The PLA2G4C polymorphism accounted for approximately 12% of negative symptom severity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 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": "B2RB71;B4DI40;O75457;Q6IBI8;Q9UG68", "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": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "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": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "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": "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": "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": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.1", "type": "external" }, { "id": "2.3.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.149", "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:0005509 calcium ion binding;GO:0004622 phosphatidylcholine lysophospholipase activity;GO:0004623 phospholipase A2 activity;GO:0008970 phospholipase A1 activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006663 platelet activating factor biosynthetic process;GO:0006954 inflammatory response;GO:0035556 intracellular signal transduction;GO:0036152 phosphatidylethanolamine acyl-chain remodeling;GO:0036151 phosphatidylcholine acyl-chain remodeling", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q9UP65-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22735-1", "uniprot_id": [ { "id": "TGM1_HUMAN", "url": "https://www.uniprot.org/uniprot/P22735", "type": "external" } ], "mass": 89787.0, "length": 817, "protein_name": "Protein-glutamine gamma-glutamyltransferase K", "gene_name": "TGM1", "organism": "Human", "refseq_name": "protein-glutamine gamma-glutamyltransferase K", "refseq_ac": [ { "id": "NP_000350", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000350", "type": "external" } ], "gene_names_uniprotkb": "TGM1; KTG", "gene_names_refseq": "ARCI1; ICR2; KTG; LI1; LI; TGASE; TGK; TGM1", "protein_names_uniprotkb": "Protein-glutamine gamma-glutamyltransferase K; 2.3.2.13; Epidermal TGase; TG(K); TGK; TGase K; TGase-1; Transglutaminase K; Transglutaminase-1", "protein_names_refseq": "K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase; TG(K); TGase K; TGase-1; epidermal TGase; protein-glutamine gamma-glutamyltransferase K; transglutaminase K; transglutaminase, keratinocyte", "tax_id": 9606, "disease": "autosomal recessive congenital ichthyosis (Disease Ontology:DOID:0060655); autosomal recessive congenital ichthyosis 1 (Disease Ontology:DOID:0060656)", "pathway": " (hsa:7051); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11251583;11350120;11380615;11511296;11590230;12902340;1346394;1348508;1350092;1351505;1381356;15033990;15337775;15797384;15803139;16061697;16639001;1670769;1673840;1704039;17515931;17562024;17596512;17762858;18491316;18843291;19190773;19194479;19241467;1979171;19890349;20179351;20657595;20663883;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26220141;26374642;26390218;29393594;30397120;30484775;31222486;32983136;35051231;36241641;38060040;38233982;38472489;38665916;39146185;39408635;7543090;7629111;7773290;7824952;8824274;8973564;8999895;9326318;9395522;9565599", "class_list": "", "function": "A pan-cancer analysis of the oncogenic and immunological roles of transglutaminase 1 (TGM1) in human cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins (PubMed:7629111, PubMed:8824274, PubMed:26220141, PubMed:20663883). Responsible for cross-linking epidermal proteins during formation of the stratum corneum (PubMed:26220141). Involved in cell proliferation (PubMed:26220141)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis upon LKB1 inactivation., [RefSeq, PubMed]; THBS1 promotes angiogenesis and accelerates ESCC malignant progression by the HIF-1/VEGF signaling pathway., [RefSeq, PubMed]; The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]., [RefSeq]; Transglutaminase 1: Emerging Functions beyond Skin. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DWR7;Q197M4", "ec_number_list": [ { "id": "2.3.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.13", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.5.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.44", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0003810 protein-glutamine gamma-glutamyltransferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0001533 cornified envelope", "go_biological_process": "GO:0036211 protein modification process;GO:0030216 keratinocyte differentiation;GO:0018149 peptide cross-linking;GO:0045787 positive regulation of cell cycle;GO:0010838 positive regulation of keratinocyte proliferation", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P22735-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6DKI1-1", "uniprot_id": [ { "id": "RL7L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6DKI1", "type": "external" } ], "mass": 29669.0, "length": 255, "protein_name": "Ribosomal protein uL30-like", "gene_name": "RPL7L1", "organism": "Human", "refseq_name": "ribosomal protein uL30-like", "refseq_ac": [ { "id": "NP_940888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940888", "type": "external" } ], "gene_names_uniprotkb": "RPL7L1", "gene_names_refseq": "RPL7L1; dJ475N16.4", "protein_names_uniprotkb": "Ribosomal protein uL30-like; 60S ribosomal protein L7-like 1; Large ribosomal subunit protein uL30-like 1", "protein_names_refseq": "60S ribosomal protein L7-like 1; large ribosomal subunit protein uL30-like 1; ribosomal protein uL30-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:285855)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "11237011;22544926;22869377;23783831;24366607;24714562;24715725;25418920;25576301;25645385;26154972;26728094;26929215;26992070;27397612;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30524438;30779550;30784271;30833945;31092671;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33936100;33968037;34171305;34405274;34509645;34932366;35051231;35251023;35318648;35580925;36241641;36284347;36581221;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A8K7D4;B7Z652;Q5TFZ5;Q6PEK3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005730 nucleolus;GO:0005739 mitochondrion;GO:0022625 cytosolic large ribosomal subunit;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0000463 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q6DKI1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2W6-1", "uniprot_id": [ { "id": "RM46_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2W6", "type": "external" } ], "mass": 31705.0, "length": 279, "protein_name": "Large ribosomal subunit protein mL46", "gene_name": "MRPL46", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL46", "refseq_ac": [ { "id": "NP_071446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071446", "type": "external" } ], "gene_names_uniprotkb": "MRPL46; C15orf4; LIECG2", "gene_names_refseq": "C15orf4; LIECG2; MRPL46; P2ECSL; mL46", "protein_names_uniprotkb": "Large ribosomal subunit protein mL46; 39S ribosomal protein L46, mitochondrial; L46mt; MRP-L46; P2ECSL", "protein_names_refseq": "39S ribosomal protein L46, mitochondrial; L46mt; MRP-L46; large ribosomal subunit protein mL46; mitochondrial large ribosomal subunit protein mL46", "tax_id": 9606, "disease": "", "pathway": " (hsa:26589); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 41, "publication_id_list": "11237011;11551941;11761714;15358359;17803939;18429816;18782833;19524667;19608861;19716793;20186120;20877624;21907147;22172991;2250005;23481700;25233460;25278503;25838379;27029019;28218747;28510447;28832583;28834231;28892042;29557506;31844290;32387766;32897882;32938616;33243891;33878294;34357683;34509645;35580925;36302763;36596788;37141370;37217939;37340703;40596516", "class_list": "", "function": "Expression is enriched in testis. Positioned to chromosome 15q24 by radiation hybrid mapping., [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]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RD75;Q9HBU8", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9H2W6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NV58-1", "uniprot_id": [ { "id": "RN19A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NV58", "type": "external" } ], "mass": 90696.0, "length": 838, "protein_name": "E3 ubiquitin-protein ligase RNF19A", "gene_name": "RNF19A", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF19A", "refseq_ac": [ { "id": "NP_001267468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267468", "type": "external" } ], "gene_names_uniprotkb": "RNF19A; RNF19", "gene_names_refseq": "RNF19A; RNF19", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF19A; 2.3.2.31; Dorfin; Double ring-finger protein; RING finger protein 19A; p38", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF19A; double ring-finger protein; protein p38 interacting with transcription factor Sp1; ring finger protein 19A, E3 ubiquitin protein ligase; ring-IBR-ring domain containing protein Dorfin", "tax_id": 9606, "disease": "", "pathway": " (hsa:25897); (R-HSA-983168)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10976766;11062501;11237011;11237715;11350924;12145308;12646216;12750386;12875980;14734113;15224091;15224092;15456787;15571818;16513638;16595681;16849449;16954532;17525332;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20068231;21406692;2261476;23481700;24275569;24366607;24715725;25418920;25502872;25576301;25880248;26375851;26992070;27600516;27920218;28467828;28514659;28832583;28904123;29242379;29314611;29317506;29393594;29493099;29508533;29557506;29632046;30379171;30429286;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33717175;33912179;33968037;34087483;34171305;34184814;34357683;34509645;34789768;35051231;35561310;35580925;36010968;36241641;36284347;36623445;37326687;37938771;9380723;9668046", "class_list": "", "function": "CRISPR screening reveals gleason score and castration resistance related oncodriver ring finger protein 19 A (RNF19A) in prostate cancer., [RefSeq, PubMed]; Dorfin has a role in ubiquitylating mutant SOD1 proteins and targeting them for proteasomal degradation, [RefSeq, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; LncRNA KCNQ10T1 shuttled by bone marrow mesenchymal stem cell-derived exosome inhibits sepsis via regulation of miR-154-3p/RNF19A axis., [RefSeq, PubMed]; RNF19A-mediated ubiquitination of BARD1 prevents BRCA1/BARD1-dependent homologous recombination. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that synphilin-1 has an important role in the formation of aggregates and cytotoxicity in Parkinson disease and that Dorfin may be involved in the pathogenic process by ubiquitylation of synphilin-1, [RefSeq, PubMed]; Ring finger protein 19A is overexpressed in non-small cell lung cancer and mediates p53 ubiquitin-degradation to promote cancer growth., [RefSeq, PubMed]; These results suggest that Dorfin plays a crucial role in the formation of ubiquitylated inclusions of alpha-synucleinopathy and amyotrophic lateral sclerosis., [RefSeq, PubMed]; This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A3KCU9;Q52LG1;Q9H5H9;Q9H8M8;Q9UFG0;Q9UFX6;Q9Y4Y1", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0031624 ubiquitin conjugating enzyme binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0016020 membrane;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0000226 microtubule cytoskeleton organization;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9NV58-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75443-1", "uniprot_id": [ { "id": "TECTA_HUMAN", "url": "https://www.uniprot.org/uniprot/O75443", "type": "external" } ], "mass": 239527.0, "length": 2155, "protein_name": "Alpha-tectorin", "gene_name": "TECTA", "organism": "Human", "refseq_name": "alpha-tectorin precursor", "refseq_ac": [ { "id": "NP_005413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413", "type": "external" } ], "gene_names_uniprotkb": "TECTA", "gene_names_refseq": "DFNA12; DFNA8; DFNB21; TECTA", "protein_names_uniprotkb": "Alpha-tectorin", "protein_names_refseq": "alpha-tectorin precursor; alpha-tectorin", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 21 (Disease Ontology:DOID:0110479); autosomal dominant nonsyndromic deafness 12 (Disease Ontology:DOID:0110544); sensorineural hearing loss (Disease Ontology:DOID:10003)", "pathway": " (hsa:7007); (R-HSA-163125)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10196713;10987647;11072085;11237011;11333869;12162770;12746400;15319541;16718611;16959974;17661817;20947814;21368133;21520338;2443973;24715725;28946916;29557506;30703234;31217245;32382995;32938616;33592498;33912179;33976695;3422494;35051231;35494241;35870179;9590290;9949200", "class_list": "", "function": "A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations., [RefSeq, PubMed]; Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss., [RefSeq, PubMed]; Homozygous c.1893C>A mutation of the TECTA gene probably underlies the proband's hearing loss which conformed to an autosomal recessive inheritance, [RefSeq, PubMed]; Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families. Publication Status: Online-Only, [RefSeq, PubMed]; One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals., [UniProtKB]; One of the major non-collagenous components of the tectorial membrane. The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals., [UniProtKB, UniProtKB, UniProtKB]; TECTA mutations were identified in 6.0% of mid-frequency sensorineural hearing loss cases; these mutations were more frequent in patients with shallow U-shaped audiograms than those with U-shaped audiograms, and in families which have the family histories compatible with autosomal dominant than those with the family histories compatible with sporadic or autosomal recessive. Publication Status: Online-Only, [RefSeq, PubMed]; The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 30, "predicted_n_glycosites": 30, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 169, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 30, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0098552 side of membrane", "go_biological_process": "GO:0007160 cell-matrix adhesion;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "O75443-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96D71-1", "uniprot_id": [ { "id": "REPS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96D71", "type": "external" } ], "mass": 86662.0, "length": 796, "protein_name": "RalBP1-associated Eps domain-containing protein 1", "gene_name": "REPS1", "organism": "Human", "refseq_name": "ralBP1-associated Eps domain-containing protein 1 isoform b", "refseq_ac": [ { "id": "NP_001122089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122089", "type": "external" } ], "gene_names_uniprotkb": "REPS1", "gene_names_refseq": "NBIA7; REPS1", "protein_names_uniprotkb": "RalBP1-associated Eps domain-containing protein 1; RalBP1-interacting protein 1", "protein_names_refseq": "ralBP1-associated Eps domain-containing protein 1 isoform b; ralBP1-interacting protein 1", "tax_id": 9606, "disease": "neurodegeneration with brain iron accumulation (Disease Ontology:DOID:0110734); neurodegeneration with brain iron accumulation 7 (MONDO:MONDO:0054763)", "pathway": " (hsa:85021); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 277, "publication_id_list": "10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11231140;11237011;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11750063;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12364336;12429842;12447393;12451172;12464600;12717448;12847086;12944396;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;16103228;16159959;16215232;16326391;16344560;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17081983;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18088087;18093523;18166656;18199683;18220336;18318008;18388313;1847920;18669648;18775314;18790740;18819912;18981233;19092055;19140243;19287005;19296720;19458185;19536138;19575674;19603039;1968060;19690332;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20068231;20211604;20231386;20351096;20428113;20448150;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21406692;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23186163;23297414;23481700;23536704;23823722;23861397;23891661;24130457;24186068;24275569;24384571;24581490;24680432;24715725;24746795;24789820;24966051;25107275;25303366;25341920;25418920;25576301;25880248;26042225;26154972;26375851;26403691;26829388;26992070;27600516;27846572;28218747;28228285;28411811;28657654;28832583;28904123;2890644;29242379;29331515;29393594;29395073;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30429286;31217245;31373491;31637018;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33407999;33592498;33691108;33968037;33981976;34019948;3417785;34357683;34509645;34932366;35051231;35254053;35494241;35580925;36010968;36284347;37938771;38665916;39531497;6146630;7569928;7822302;7877694;8524399;8552632;8553074;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9812899", "class_list": "", "function": "May coordinate the cellular actions of activated EGF receptors and Ral-GTPases., [UniProtKB]; Phosphorylation of REPS1 at Ser709 by RSK attenuates the recycling of transferrin receptor., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B7ZBZ8;B7ZBZ9;B7ZC00;J3KP76;Q5JWJ5;Q5JWJ6;Q5JWJ7;Q8NDR7;Q8WU62;Q9BXY9", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0030674 protein-macromolecule adaptor activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit", "go_biological_process": "GO:0006897 endocytosis;GO:0016197 endosomal transport", "synthesized_glycan_count": 0, "hit_score": 28.5, "record_id": "Q96D71-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96E14-1", "uniprot_id": [ { "id": "RMI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96E14", "type": "external" } ], "mass": 15865.0, "length": 147, "protein_name": "RecQ-mediated genome instability protein 2", "gene_name": "RMI2", "organism": "Human", "refseq_name": "recQ-mediated genome instability protein 2", "refseq_ac": [ { "id": "NP_689521", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689521", "type": "external" } ], "gene_names_uniprotkb": "RMI2; C16orf75", "gene_names_refseq": "BLAP18; C16orf75; RMI2", "protein_names_uniprotkb": "RecQ-mediated genome instability protein 2; BLAP18; BLM-associated protein of 18 kDa; hRMI2", "protein_names_refseq": "BLM-associated protein of 18 kDa; RMI2, RecQ mediated genome instability 2, homolog; recQ-mediated genome instability protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:116028); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603)", "pathway_count": 16, "publication_count": 221, "publication_id_list": "10212258;10373512;10435622;10438626;10500146;10551859;10570149;10570174;10604467;10673500;10673501;10710310;10733923;10744977;10801132;10856253;10859164;10884347;10921897;11006276;11080452;11139606;11237011;11239457;11301010;11376695;11390642;11447225;11459987;11511362;11546806;11551930;11571269;11698410;11740489;11751635;11780126;11832208;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12545175;12578958;12686547;12702766;12721304;12750383;12791985;12851404;12912992;12914926;14527420;14576433;14702041;14716019;14734547;15053879;15189136;15190204;15359272;15485900;15665856;15703751;15707391;15866171;15916957;16148040;16153896;16322561;16327781;16337601;16360315;16530042;16793542;16885023;17108107;17114795;17200668;17200671;17200672;17289582;17349958;17420451;17515903;17575048;17591690;17928296;17962301;17965729;17996710;17996711;18171670;18317453;18490454;18539610;18541667;18757400;18805091;18923075;18923082;18923083;18957201;18971343;19074197;19121998;19268590;19357644;19369211;19419957;19584259;19596236;19609323;19941829;19965871;20068231;20154705;20207730;20233725;20729832;20729858;20729859;20826342;20871615;20871616;20959462;20965415;21052091;21240188;21263215;21317932;21325134;21335604;21520333;21565612;21659603;21680713;21777809;21804533;22021381;22024395;22194698;22231403;22593209;22635276;22645308;22661229;22661230;22792074;22977173;23000554;23149936;23186163;23345434;23468639;23485397;23509288;23676219;23686288;23731732;23754376;23810717;24013206;24076221;24108125;24141787;24145406;24371268;24485656;24509834;24715725;24831703;24874608;25113031;25122754;25418920;25558984;25659039;26145171;27899578;27920218;27977684;28089683;28158555;28218747;28228285;28240985;28319063;28352266;28904123;29165669;29437277;29608566;30289697;30311374;30315122;31586400;31636395;31757951;31844290;32732220;33195396;33298915;33978741;34440403;35102151;35115525;35552266;36172813;36529288;37875822;40307207;8702565;9705271;9837724;9925639", "class_list": "", "function": "A combined bioinformatics and experimental approach identifies RMI2 as a Wnt/beta-catenin signaling target gene related to hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Crystal structures of RMI1 and RMI2, two OB-fold regulatory subunits of the BLM complex, [RefSeq, PubMed]; Duplex DNA and BLM regulate gate opening by the human TopoIIIalpha-RMI1-RMI2 complex. Publication Status: Online-Only, [RefSeq, PubMed]; Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM., [UniProtKB, PubMed, PubMed, PubMed]; RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]., [RefSeq]; RecQ mediated genome instability 2 (RMI2): a potential prognostic and immunological biomarker for pan-cancers., [RefSeq, PubMed]; The MRN complex and topoisomerase IIIa-RMI1/2 synchronize DNA resection motor proteins., [RefSeq, PubMed]; The toposiomerase IIIalpha-RMI1-RMI2 complex orients human Bloom's syndrome helicase for efficient disruption of D-loops. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 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": "B3KVZ6;Q49AE2;Q8TBL0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:0006281 DNA repair;GO:0006260 DNA replication;GO:0000724 double-strand break repair via homologous recombination;GO:0033045 regulation of sister chromatid segregation", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "Q96E14-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYC8-1", "uniprot_id": [ { "id": "RM32_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYC8", "type": "external" } ], "mass": 21405.0, "length": 188, "protein_name": "Large ribosomal subunit protein bL32m", "gene_name": "MRPL32", "organism": "Human", "refseq_name": "large ribosomal subunit protein bL32m precursor", "refseq_ac": [ { "id": "NP_114109", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114109", "type": "external" } ], "gene_names_uniprotkb": "MRPL32; HSPC283", "gene_names_refseq": "HSPC283; L32mt; MRP-L32; MRPL32; bL32m; bMRP-59b", "protein_names_uniprotkb": "Large ribosomal subunit protein bL32m; 39S ribosomal protein L32, mitochondrial; L32mt; MRP-L32", "protein_names_refseq": "39S ribosomal protein L32, mitochondrial; large ribosomal subunit protein bL32m precursor; mitochondrial large ribosomal subunit protein bL32m", "tax_id": 9606, "disease": "", "pathway": " (hsa:64983); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9837999); (R-HSA-9937383)", "pathway_count": 6, "publication_count": 71, "publication_id_list": "11237011;11279069;11543634;11923310;12198491;14623864;15358359;15522782;15870080;16115876;17101804;17297443;17579211;17803939;18429816;18782833;19524667;19716793;19841671;20068231;20186120;21907147;22172991;22262461;2250005;22710082;23201127;23931759;24315374;24520911;24715725;25233460;25278503;25418920;25505266;25838379;26504172;26923599;27029019;27496948;27642048;28377575;28396416;28832583;28834231;28892042;29301859;29932645;30120231;30192525;30315122;31327635;31695197;32157095;32983136;33243891;33257573;33592498;33878294;33936100;34357683;34704252;34932366;34943861;35177605;35870450;36302763;36596788;36629048;37141370;7623837", "class_list": "", "function": "Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:25278503, PubMed:25838379, PubMed:28892042). The mitochondrial ribosome (mitoribosome) is a large ribonucleoprotein complex responsible for the synthesis of proteins inside mitochondria (PubMed:25278503, PubMed:25838379, PubMed:28892042)., [UniProtKB, PubMed, PubMed, 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 that belongs to the L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q96Q68;Q9P098", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0005761 mitochondrial ribosome", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9BYC8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P84098-1", "uniprot_id": [ { "id": "RL19_HUMAN", "url": "https://www.uniprot.org/uniprot/P84098", "type": "external" } ], "mass": 23466.0, "length": 196, "protein_name": "Large ribosomal subunit protein eL19", "gene_name": "RPL19", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL19 isoform 1", "refseq_ac": [ { "id": "NP_000972", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000972", "type": "external" } ], "gene_names_uniprotkb": "RPL19", "gene_names_refseq": "L19; RPL19; eL19", "protein_names_uniprotkb": "Large ribosomal subunit protein eL19; 60S ribosomal protein L19", "protein_names_refseq": "60S ribosomal protein L19; large ribosomal subunit protein eL19 isoform 1; large ribosomal subunit protein eL19", "tax_id": 9606, "disease": "", "pathway": " (hsa:6143); (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": 290, "publication_id_list": "10.1101/2023.09.13.557529;10358005;10659855;10671200;10807784;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15116427;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;1598220;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;18160138;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18691976;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19664994;19691289;19706539;19748539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21209280;21419344;22072790;22121020;22190735;22195017;22424782;22544926;22916032;23085078;23186163;23217742;23234702;23269699;23301498;23439679;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25114211;25132172;25242263;25469497;25502872;25525153;25576301;25578875;25802875;25810538;25969445;26154972;26237581;26758079;26811146;26992070;27397612;27526673;27600516;27846572;27862975;27920218;28063628;28065601;28132843;28685749;28832583;28860189;28904123;29242379;29393594;29413899;29437277;29493099;29557506;29632046;29632312;29786170;30244831;30293783;30410026;30444036;30484775;30804176;30833945;31011209;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31998317;32099016;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32579943;32669547;32862280;32897882;32938616;32983136;33091337;33123756;33141586;33214551;33298915;33392160;33406423;33537174;33592498;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35083852;35138101;35154160;35251023;35254053;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302773;37217939;37676773;38665916;40596516;429297;592398;592399;641056;6568109;6901506;7500030;7990965;8095182;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "A three-gene signature and clinical outcome in pediatric acute myeloid leukemia., [RefSeq, PubMed]; Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed]; Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "B2R4K2;P14118;P22908;Q502Y6;Q7Z6E4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 29.5, "record_id": "P84098-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L0R7-1", "uniprot_id": [ { "id": "RNF44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L0R7", "type": "external" } ], "mass": 47728.0, "length": 432, "protein_name": "RING finger protein 44", "gene_name": "RNF44", "organism": "Human", "refseq_name": "RING finger protein 44", "refseq_ac": [ { "id": "NP_055716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055716", "type": "external" } ], "gene_names_uniprotkb": "RNF44; KIAA1100", "gene_names_refseq": "RNF44", "protein_names_uniprotkb": "RING finger protein 44", "protein_names_refseq": "RING finger protein 44", "tax_id": 9606, "disease": "", "pathway": " (hsa:22838)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;17697703;23481700;24715725;25418920;25576301;25645385;26154972;26992070;27846572;27920218;28446606;28832583;28904123;29242379;29437277;29557506;29632711;29786170;30315122;30429286;31092671;31844290;31998317;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;35051231;35561310;36241641;36284347", "class_list": "", "function": "The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DYE0;Q8ND05;Q9UPQ2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q7L0R7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57723-1", "uniprot_id": [ { "id": "PCBP4_HUMAN", "url": "https://www.uniprot.org/uniprot/P57723", "type": "external" } ], "mass": 41482.0, "length": 403, "protein_name": "Poly(rC)-binding protein 4", "gene_name": "PCBP4", "organism": "Human", "refseq_name": "poly(rC)-binding protein 4 isoform c", "refseq_ac": [ { "id": "NP_001167571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167571", "type": "external" } ], "gene_names_uniprotkb": "PCBP4", "gene_names_refseq": "CBP; LIP4; MCG10; PCBP4", "protein_names_uniprotkb": "Poly(rC)-binding protein 4; Alpha-CP4", "protein_names_refseq": "LYST-interacting protein; RNA binding protein MCG10; alpha-CP4; poly(rC)-binding protein 4 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:57060); (R-HSA-6804116); (R-HSA-69895); (R-HSA-9617828)", "pathway_count": 4, "publication_count": 50, "publication_id_list": "10891498;10936052;11237011;11812999;11884591;11964479;12692263;14580351;14612387;14633988;15084259;15133492;15458387;15722552;17719541;18194653;18202719;18444242;20817677;22172947;22802528;22802529;23064264;23481700;23580232;23918930;24047697;25645385;25843800;26196957;26992070;27452520;28834231;29242379;29557506;30484775;31092671;31844290;32157095;32387766;32938616;32983136;33968037;34019948;35580925;36010968;36215666;36241641;8242752;9780002", "class_list": "", "function": "PCBP4 plays important roles in the induction of cisplatin resistance in human maxillary cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Single-stranded nucleic acid binding protein that binds preferentially to oligo dC., [UniProtKB]; This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene is induced by the p53 tumor suppressor, and the encoded protein can suppress cell proliferation by inducing apoptosis and cell cycle arrest in G(2)-M. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple alternatively spliced transcript variants have been described, but the full-length nature for only some has been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q96AH7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0043488 regulation of mRNA stability;GO:0048025 negative regulation of mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "P57723-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2RU30-1", "uniprot_id": [ { "id": "TESP1_HUMAN", "url": "https://www.uniprot.org/uniprot/A2RU30", "type": "external" } ], "mass": 59213.0, "length": 521, "protein_name": "Protein TESPA1", "gene_name": "TESPA1", "organism": "Human", "refseq_name": "protein TESPA1 isoform 1", "refseq_ac": [ { "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285", "type": "external" } ], "gene_names_uniprotkb": "TESPA1; HSPC257; KIAA0748", "gene_names_refseq": "HSPC257; ITPRID3; KIAA0748; TESPA1", "protein_names_uniprotkb": "Protein TESPA1; Thymocyte-expressed positive selection-associated protein 1", "protein_names_refseq": "protein TESPA1 isoform 1; protein TESPA1; thymocyte-expressed positive selection-associated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9840)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;19690332;20628086;22561606;23501103;23541577;23650607;24893580;25576301;25736038;26375851;26811146;26992070;28063628;28598420;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;31316154;31844290;32265295;32387766;32502341;33936100;34561969;35051231;35580925;35705636;36581221", "class_list": "", "function": "Alcohol use disorder is associated with DNA methylation-based shortening of telomere length and regulated by TESPA1: implications for aging., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Required for the development and maturation of T-cells, its function being essential for the late stages of thymocyte development (By similarity). Plays a role in T-cell antigen receptor (TCR)-mediated activation of the ERK and NFAT signaling pathways, possibly by serving as a scaffolding protein that promotes the assembly of the LAT signalosome in thymocytes. May play a role in the regulation of inositol 1,4,5-trisphosphate receptor-mediated Ca(2+) release and mitochondrial Ca(2+) uptake via the mitochondria-associated endoplasmic reticulum membrane (MAM) compartment., [UniProtKB, PubMed]; Tespa1 functions in T cell development and the regulation of TCR-induced Ca(2+) signalling through IP3R1 Erratum:[Nat Commun. 2018 Mar 12;9:16183. doi: 10.1038/ncomms16183. PMID: 29528040] Publication Status: Online-Only, [RefSeq, PubMed]; Tespa1 hay have a role in susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China, [RefSeq, PubMed]; Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux., [RefSeq, PubMed]; Tespa1 is post-translationally modified upon intracellular divalent calcium-ion Ca2+ increase in thymocytes., [RefSeq, PubMed]; The TESPA1 gene was found to not be involved in ankylosing spondylitis in a Chinese population., [RefSeq, PubMed]; Thymic-specific regulation of TCR signaling by Tespa1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DPM3;B4E048;B7Z9K7;O94849;Q4G0P2;Q9P0C4", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0043274 phospholipase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0008180 COP9 signalosome;GO:0036398 TCR signalosome", "go_biological_process": "GO:0033089 positive regulation of T cell differentiation in thymus;GO:0050862 positive regulation of T cell receptor signaling pathway;GO:0008104 intracellular protein localization;GO:0010387 COP9 signalosome assembly", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "A2RU30-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75063-1", "uniprot_id": [ { "id": "XYLK_HUMAN", "url": "https://www.uniprot.org/uniprot/O75063", "type": "external" } ], "mass": 46432.0, "length": 409, "protein_name": "Glycosaminoglycan xylosylkinase", "gene_name": "FAM20B", "organism": "Human", "refseq_name": "glycosaminoglycan xylosylkinase", "refseq_ac": [ { "id": "NP_001311239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311239", "type": "external" } ], "gene_names_uniprotkb": "FAM20B; KIAA0475", "gene_names_refseq": "FAM20B; gxk1", "protein_names_uniprotkb": "Glycosaminoglycan xylosylkinase; 2.7.1.-; Xylose kinase", "protein_names_refseq": "family with sequence similarity 20, member B; glycosaminoglycan xylosylkinase; xylose kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:9917); (R-HSA-1971475)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10.1101/2023.09.13.557529;10473568;10506123;10842173;11099377;11237011;11551958;11877387;12522689;14993226;15294915;15461586;15676076;17194707;18400750;19473117;22810237;23656592;24190977;24425863;25521717;26992070;27090790;27920218;28063628;28832583;28834231;29242379;29314611;29393594;29632046;29731959;29741879;29786170;30524438;31133012;31611695;31844290;31998317;32157095;32265295;32350084;32387766;32517548;32897882;32938616;33592498;33936100;34357683;35251023;35580925;9506957;9892646", "class_list": "glycogene", "function": "Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease., [RefSeq, PubMed]; Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-phosphorylation may influence the catalytic activity of B3GAT3 (GlcAT-I) which completes the precursor tetrasaccharide of GAG-protein linkage regions on which the repeating disaccharide region is synthesized., [UniProtKB, PubMed, PubMed]; The T allele of FAM20B (rs3766626) was associated with susceptibility to two mesiodens Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 447, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5W0C3;Q5W0C4", "ec_number_list": [ { "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:0046872 metal ion binding;GO:0016301 kinase activity;GO:0016773 phosphotransferase activity, alcohol group as acceptor", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0030166 proteoglycan biosynthetic process;GO:1902729 negative regulation of proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "O75063-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92621-1", "uniprot_id": [ { "id": "NU205_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92621", "type": "external" } ], "mass": 227922.0, "length": 2012, "protein_name": "Nuclear pore complex protein Nup205", "gene_name": "NUP205", "organism": "Human", "refseq_name": "nuclear pore complex protein Nup205 isoform 1", "refseq_ac": [ { "id": "NP_055950", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055950", "type": "external" } ], "gene_names_uniprotkb": "NUP205; C7orf14; KIAA0225", "gene_names_refseq": "C7orf14; NPHS13; NUP205", "protein_names_uniprotkb": "Nuclear pore complex protein Nup205; 205 kDa nucleoporin; Nucleoporin Nup205", "protein_names_refseq": "205 kDa nucleoporin; nuclear pore complex protein Nup205 isoform 1; nuclear pore complex protein Nup205; nucleoporin Nup205", "tax_id": 9606, "disease": "nephrotic syndrome type 13 (Disease Ontology:DOID:0080381)", "pathway": " (hsa:23165); (R-HSA-1169408); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-6784531); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9705671)", "pathway_count": 32, "publication_count": 514, "publication_id_list": 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"class_list": "", "function": "Biallelic loss of function NEK3 mutations deacetylate alpha-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left-right patterning. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of FLT4, Nup98, and Nup205 Cellular Genes Effectively Suppresses the Reproduction of Influenza Virus Strain A/WSN/1933 (H1N1) In vitro., [RefSeq, PubMed]; LINC00887 regulates the proliferation of nasopharyngeal carcinoma via targeting miRNA-203b-3p to upregulate NUP205., [RefSeq, PubMed]; LncRNA HOTAIR Influences the Growth, Migration, and Invasion of Papillary Thyroid Carcinoma via Affection on the miR-488-5p/NUP205 Axis., [RefSeq, PubMed]; NUP93 knockdown reduced the presence of NUP205 in the nuclear pore compex, and, reciprocally, a NUP205 alteration abrogated NUP93 interaction., [RefSeq, PubMed]; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC (PubMed:15229283). In association with TMEM209, may be involved in nuclear transport of various nuclear proteins in addition to MYC (PubMed:22719065)., [UniProtKB, PubMed, PubMed, PubMed]; The role of the FSGS disease gene product and nuclear pore protein NUP205 in regulating nuclear localization and activity of transcriptional regulators YAP and TAZ., [RefSeq, PubMed]; This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6H8X3;Q86YC1", "ec_number_list": [], "go_molecular_function": "GO:0017056 structural constituent of nuclear pore", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005829 cytosol;GO:0016020 membrane;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006999 nuclear pore organization;GO:0006913 nucleocytoplasmic transport;GO:0015031 protein transport;GO:0051292 nuclear pore complex assembly;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 51.9, "record_id": "Q92621-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43247-1", "uniprot_id": [ { "id": "CMIP4_HUMAN", "url": "https://www.uniprot.org/uniprot/O43247", "type": "external" } ], "mass": 30725.0, "length": 280, "protein_name": "Ciliary microtubule inner protein 4", "gene_name": "CIMIP4", "organism": "Human", "refseq_name": "ciliary microtubule inner protein 4 isoform 1", "refseq_ac": [ { "id": "NP_001157329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157329", "type": "external" } ], "gene_names_uniprotkb": "CIMIP4; C22orf33; EAN57; TEX33", "gene_names_refseq": "C22orf33; CIMIP4; EAN57; TEX33; cE81G9.2", "protein_names_uniprotkb": "Ciliary microtubule inner protein 4; Testis-expressed protein 33", "protein_names_refseq": "ciliary microtubule inner protein 4 isoform 1; protein EAN57; testis expressed 33; testis-expressed protein 33; testis-expressed sequence 33 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:339669)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;18477386;30379171;33760102;35051231", "class_list": "", "function": "Seems to be associated with spermiogenesis but is not essential for sperm development and male fertility., [UniProtKB, UniProtKB]; Testis-expressed protein 33 is not essential for spermiogenesis and fertility in mice., [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": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B1AH46;Q6ICF2;Q8IVQ2;Q9Y4V8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O43247-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC41-1", "uniprot_id": [ { "id": "RN217_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC41", "type": "external" } ], "mass": 59372.0, "length": 542, "protein_name": "E3 ubiquitin-protein ligase RNF217", "gene_name": "RNF217", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF217 isoform a", "refseq_ac": [ { "id": "NP_001273327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273327", "type": "external" } ], "gene_names_uniprotkb": "RNF217; C6orf172; IBRDC1; OSTL", "gene_names_refseq": "C6orf172; IBRDC1; OSTL; RNF217; dJ84N20.1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF217; 2.3.2.31; IBR domain-containing protein 1; Opposite STL; RING finger protein 217", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF217 isoform a; IBR domain containing 1; opposite STL; probable E3 ubiquitin-protein ligase RNF217", "tax_id": 9606, "disease": "", "pathway": " (hsa:154214); (R-HSA-983168)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;18978678;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2261476;25298122;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates the degradation of the iron exporter ferroportin/SLC40A1 and thus regulates iron homeostasis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The high expression of RNF217 in certain human leukemias suggests that the deregulation of this gene could be a more common mechanism in leukemogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "H7C5V4;Q5TCA4;Q9BX48", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0031624 ubiquitin conjugating enzyme binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8TC41-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYD1-1", "uniprot_id": [ { "id": "RM13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYD1", "type": "external" } ], "mass": 20692.0, "length": 178, "protein_name": "Large ribosomal subunit protein uL13m", "gene_name": "MRPL13", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL13m", "refseq_ac": [ { "id": "NP_054797", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054797", "type": "external" } ], "gene_names_uniprotkb": "MRPL13", "gene_names_refseq": "L13A; L13mt; L13; MRPL13; RPL13; RPML13; uL13m", "protein_names_uniprotkb": "Large ribosomal subunit protein uL13m; 39S ribosomal protein L13, mitochondrial; L13mt; MRP-L13", "protein_names_refseq": "39S ribosomal protein L13, mitochondrial; MRP-L13; large ribosomal subunit protein uL13m; mitochondrial large ribosomal subunit protein uL13m", "tax_id": 9606, "disease": "", "pathway": " (hsa:28998); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 53, "publication_id_list": "11237011;11279069;15358359;17803939;18429816;18782833;18995835;19524667;19716793;20186120;21907147;22172991;2250005;23481700;25233460;25278503;25838379;26375851;27029019;28218747;28228285;28510447;28514659;28832583;28892042;28904123;28978646;29242379;30315122;31844290;31848261;32161166;32357974;32387766;32938616;33243891;33298915;33717175;33878294;33912179;33968037;34171305;34357683;34509645;34561969;34868337;35051231;35177605;36302763;36596788;37141370;37814870;39534244", "class_list": "", "function": "DAPK-ZIPK-L13a axis forms a unique regulatory module that first represses, then repermits inflammatory gene expression., [RefSeq, PubMed]; Identification of the Upregulation of MRPL13 as a Novel Prognostic Marker Associated with Overall Survival Time and Immunotherapy Response in Breast Cancer. 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]; The combination of elevated glycolysis and deficient MRPL13 activity was closely linked to CLN1-mediated tumor activity in human hepatoma cells, [RefSeq, PubMed]; [High expression of MRPL13 promotes cell cycle progression and proliferation of gastric cancer cells by inhibiting p53 signaling to affect long-term prognosis]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R4R8;Q9UI04", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:0005761 mitochondrial ribosome", "go_biological_process": "GO:0006412 translation;GO:0017148 negative regulation of translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9BYD1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVF1-1", "uniprot_id": [ { "id": "OSCP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVF1", "type": "external" } ], "mass": 44586.0, "length": 389, "protein_name": "Protein OSCP1", "gene_name": "OSCP1", "organism": "Human", "refseq_name": "protein OSCP1 isoform 3", "refseq_ac": [ { "id": "NP_001317422", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317422", "type": "external" } ], "gene_names_uniprotkb": "OSCP1; C1orf102; NOR1", "gene_names_refseq": "C1orf102; NOR1; OSCP1", "protein_names_uniprotkb": "Protein OSCP1; Organic solute transport protein 1; Oxidored-nitro domain-containing protein 1; hOSCP1", "protein_names_refseq": "organic solute carrier protein 1; organic solute transport protein 1; oxidored nitro domain containing protein; oxidored-nitro domain-containing protein 1; protein OSCP1 isoform 3; protein OSCP1", "tax_id": 9606, "disease": "", "pathway": " (hsa:127700)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;12819961;16006562;18237537;19727524;21803736;23831407;26781989;26992070;28904123;29227538;31844290;32938616;34171305;35318648;39894887", "class_list": "", "function": "Abberant expression of NOR1 protein in tumor associated macrophages contributes to the development of DEN-induced hepatocellular carcinoma., [RefSeq, PubMed]; Data revealed novel aspects of the interplay between autophagy and apoptosis in nasopharyngeal carcinoma cells, which underlies the tumor suppression function of NOR1., [RefSeq, PubMed]; Frequent epigenetic inactivation of the NOR1 gene in nasopharyngeal carcinoma (NPC) suggests that it may be a critical tumor suppressor involved in the development of nasopharyngeal carcinoma., [RefSeq, PubMed]; HOSCP1 is a novel polyspecific organic solute carrier protein responsible for drug clearance from the human placenta, [RefSeq, PubMed]; May be involved in drug clearance in the placenta., [UniProtKB, PubMed]; NOR(1) gene may have some effects on liver cancer by up-regulating the expression of these proteins., [RefSeq, PubMed]; NOR1 protein is predominantly expressed in human nasopharynx and tracheal tissues and is frequently down-expressed in NPC., [RefSeq, PubMed]; Results identified NOR1 as a downstream target gene of miR-199a which is critical for regulating cell proliferation and migration by targeting and upregulating NOR1 in human HepG2 cells., [RefSeq, PubMed]; We cloned a novel gene NOR(1), and the Glu58Gly polymorphism of NOR(1) may be involved in the development and/or progression of NPC suggesting that NOR(1) could be a candidate tumor repressor gene related with 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "A6NHM5;A6NHS9;A6NIN9;Q4AEJ0;Q8N7G2;Q8TDF1", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009925 basal plasma membrane", "go_biological_process": "GO:1990961 xenobiotic detoxification by transmembrane export across the plasma membrane", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8WVF1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6U736-1", "uniprot_id": [ { "id": "OPN5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6U736", "type": "external" } ], "mass": 39727.0, "length": 354, "protein_name": "Opsin-5", "gene_name": "OPN5", "organism": "Human", "refseq_name": "opsin-5", "refseq_ac": [ { "id": "NP_859528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859528", "type": "external" } ], "gene_names_uniprotkb": "OPN5; GPR136; PGR12; TMEM13", "gene_names_refseq": "GPR136; GRP136; OPN5; PGR12; TMEM13", "protein_names_uniprotkb": "Opsin-5; G protein-coupled receptor 136; G protein-coupled receptor PGR12; Neuropsin; Transmembrane protein 13", "protein_names_refseq": "G-protein coupled receptor 136; neuropsin; opsin-5; transmembrane protein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:221391); (R-HSA-418594); (R-HSA-419771)", "pathway_count": 3, "publication_count": 33, "publication_id_list": "10234000;10581022;10632589;11007482;11237011;12120503;12679517;1302020;14623098;14623103;1531728;1557123;15674243;15951850;16634148;16923326;18434541;18577758;22043319;2534964;2748346;2834384;28636578;2937147;29557506;32414324;35051231;6589631;7937899;7947717;8015379;8406495;9275222", "class_list": "", "function": "Expression of the hNP gene on the mRNA level, evaluated based on peripheral blood, is significantly higher in the patients with MRD than in the healthy subjects., [RefSeq, PubMed]; G protein-coupled photoreceptor that selectively activates G(i) protein in response to light in the retina (By similarity). Activation occurs when the opsin-bound cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers a G protein-mediated phototransduction cascade (PubMed:22043319). Acts as a bistable protein with absorption peaks at 380 nm (UVA light) and 470 nm (blue light), allowing photoreversible regeneration of the cis-retinal chromophore after stimulation (PubMed:22043319). Required for the light-response in the inner plexiform layer, and contributes to the regulation of the light-response in the nerve fiber layer, via phosphorylated DAT/SLC6A3 dopamine uptake. Involved in local corneal and retinal circadian rhythm photoentrainment via modulation of the UVA light-induced phase-shift of the retina clock. Acts as a circadian photoreceptor in the outer ear and vibrissal pads, via modulation of circadian clock-gene expression in response to violet light during the light-to-dark transition phase and night phase of the circadian cycle. Required in the retina to negatively regulate hyaloid vessel regression during postnatal development via light-dependent OPN5-SLC32A1-DRD2-VEGFR2 signaling. Involved in the light-dependent regulation of retina and vitreous compartment dopamine levels. Mediates violet light-accelerated wound healing in corneas, being transiently expressed following physical injury (By similarity)., [UniProtKB, UniProtKB, PubMed]; Neuropsin in mental health. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this family member may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A0AV33;Q5T5B9;Q5T886;Q7Z603;Q86SL5", "ec_number_list": [], "go_molecular_function": "GO:0005502 11-cis retinal binding;GO:0008020 G protein-coupled photoreceptor activity;GO:0004930 G protein-coupled receptor activity;GO:0009881 photoreceptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:1990384 hyaloid vascular plexus regression;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007601 visual perception;GO:0090303 positive regulation of wound healing", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q6U736-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13888-1", "uniprot_id": [ { "id": "TF2H2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13888", "type": "external" } ], "mass": 44419.0, "length": 395, "protein_name": "General transcription factor IIH subunit 2", "gene_name": "GTF2H2C_2; GTF2H2C; GTF2H2", "organism": "Human", "refseq_name": "general transcription factor IIH subunit 2 isoform a", "refseq_ac": [ { "id": "NP_001506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001506", "type": "external" } ], "gene_names_uniprotkb": "GTF2H2C_2; GTF2H2C; GTF2H2; BTF2P44; GTF2H2C_2; GTF2H2C; GTF2H2", "gene_names_refseq": "BTF2 p44; BTF2P44; BTF2; GTF2H2; T-BTF2P44; TFIIH; p44", "protein_names_uniprotkb": "General transcription factor IIH subunit 2; BTF2 p44; Basic transcription factor 2 44 kDa subunit; General transcription factor IIH polypeptide 2; TFIIH basal transcription factor complex p44 subunit", "protein_names_refseq": "TFIIH basal transcription factor complex p44 subunit; basic transcription factor 2 44 kDa subunit; general transcription factor IIH polypeptide 2; general transcription factor IIH subunit 2 isoform a; general transcription factor IIH, polypeptide 2, 44kD subunit; general transcription factor IIH, polypeptide 2, 44kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:2966); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167160); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-167200); (R-HSA-167246); (R-HSA-427413); (R-HSA-5696395); (R-HSA-5696400); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-72086); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73863); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075)", "pathway_count": 30, "publication_count": 213, "publication_id_list": "10024882;10082553;10199401;10471499;10526214;10723029;10734143;10757782;10866664;10913176;10916156;10944529;10984493;11007478;11141066;11237011;11250901;11278856;11313498;11313499;11319235;11350971;11433015;11486021;11511374;11739720;11784853;11859374;11884399;11904382;11971958;11988847;12080057;12208738;12370301;12393749;12646563;12653964;12660172;12676794;12732143;1310361;14517266;14610093;14701750;14969726;15220921;1547496;15489290;15590680;15781865;15843171;15989964;16030353;16246722;16491090;16751180;17000769;17234882;17290000;17318177;17355984;17466625;17466626;17499042;17948053;17981804;18079701;18157150;18614043;19056823;19279666;1939271;19661379;19713942;19729311;19838300;19940136;19941815;19941824;19952111;20112406;20159561;20227374;20368362;20541997;20876134;21070792;21282463;22012619;22081108;22118460;22466610;22466611;22466612;22805593;22869377;22902626;22982363;22988298;23038248;23045548;23352696;23538671;23751493;23906714;23973375;24127601;24354960;24402227;2449431;24554720;24662513;24715725;25154395;25418920;25429106;25435140;25538220;25561469;25576301;25712099;25880248;25916849;26042670;26151477;26375851;26659056;26929215;27193682;27418187;27418309;27600516;27846572;27920218;2805069;28297668;28832583;28834231;28977422;29242379;29393594;29493099;29557506;29632046;29632711;30315122;31154438;31253769;31530632;31844290;31848261;31998317;32161166;32265295;32355176;32357974;32387766;32488085;33166411;33298915;33592498;33717175;33902107;33912179;33936100;34087483;34171305;34357683;36116407;36284347;7151173;7491500;7552146;7559382;7597036;7601352;7660122;7660129;7660130;7700386;7801123;7853496;8078911;8156590;8194529;8330735;8370526;8465201;8490964;8692841;8876179;8946909;9063743;9063748;9130708;9256425;9326587;9353262;9405375;9450929;9489704;9503025;9512541;9582279;9699634;9716411;9765293;9771713;9790902;9852112;9857195;9875289", "class_list": "", "function": "Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. The N-terminus of GTF2H2 interacts with and regulates XPD whereas an intact C-terminus is required for a successful escape of RNAP II form the promoter., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Exosome-derived GTF2H2 from Huh7 cells can inhibit endothelial cell viability, migration, tube formation, and permeability., [RefSeq, PubMed]; Interface variants between the p34 and p44 subunits only mildly affected the association between the full length proteins and did not impinge on TFIIH activities due to the presence of an additional interface involving the C4 domain of p34., [RefSeq, PubMed]; The TFIIH subunits p44/p62 act as a damage sensor during nucleotide excision repair., [RefSeq, PubMed]; This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q15570;Q15571;Q9BS41", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005675 transcription factor TFIIH holo complex;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0002031 G protein-coupled receptor internalization;GO:0009411 response to UV;GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q13888-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96G75-1", "uniprot_id": [ { "id": "RMD5B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96G75", "type": "external" } ], "mass": 44414.0, "length": 393, "protein_name": "E3 ubiquitin-protein transferase RMND5B", "gene_name": "RMND5B", "organism": "Human", "refseq_name": "E3 ubiquitin-protein transferase RMND5B isoform b", "refseq_ac": [ { "id": "NP_001275724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275724", "type": "external" } ], "gene_names_uniprotkb": "RMND5B; PRO5996", "gene_names_refseq": "GID2B; GID2; RMND5B", "protein_names_uniprotkb": "E3 ubiquitin-protein transferase RMND5B; 2.3.2.27; Protein RMD5 homolog B", "protein_names_refseq": "E3 ubiquitin-protein transferase RMND5B isoform b; E3 ubiquitin-protein transferase RMND5B; GID complex subunit 2 homolog B; protein RMD5 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:64777); (R-HSA-9861718)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "11237011;12975309;18387606;18991276;22424782;22499340;22898188;23481700;24714562;24715725;25576301;25645385;25793641;25892735;26375851;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;29911972;30315122;30429286;30524438;30779550;30833945;31092671;31154438;31530632;31735643;31844290;31848261;31937595;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33462636;33717175;33936100;33968037;34087483;34171305;34211107;34932366;35051231;35318648;35561310;35580925;36215666;36241641;36581221;7757881", "class_list": "", "function": "Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). Catalytic activity of the complex is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972)., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q1HE27;Q6UVY7;Q9H6F6", "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:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0034657 GID complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q96G75-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVC0-1", "uniprot_id": [ { "id": "NYAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVC0", "type": "external" } ], "mass": 87928.0, "length": 841, "protein_name": "Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1", "gene_name": "NYAP1", "organism": "Human", "refseq_name": "neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1", "refseq_ac": [ { "id": "NP_775835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775835", "type": "external" } ], "gene_names_uniprotkb": "NYAP1; C7orf51", "gene_names_refseq": "C7orf51; NYAP1", "protein_names_uniprotkb": "Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1", "protein_names_refseq": "neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:222950)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;32502341", "class_list": "", "function": "Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis., [UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "Q6U9Y3;Q8N1V0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0048812 neuron projection morphogenesis;GO:0043491 phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6ZVC0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62888-1", "uniprot_id": [ { "id": "RL30_HUMAN", "url": "https://www.uniprot.org/uniprot/P62888", "type": "external" } ], "mass": 12784.0, "length": 115, "protein_name": "Large ribosomal subunit protein eL30", "gene_name": "RPL30", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL30", "refseq_ac": [ { "id": "NP_000980", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000980", "type": "external" } ], "gene_names_uniprotkb": "RPL30", "gene_names_refseq": "L30; RPL30; eL30", "protein_names_uniprotkb": "Large ribosomal subunit protein eL30; 60S ribosomal protein L30", "protein_names_refseq": "60S ribosomal protein L30; large ribosomal subunit protein eL30", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); herpes simplex (Disease Ontology:DOID:8566)", "pathway": " (hsa:6156); (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": 282, "publication_id_list": "10203015;10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16964243;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18974281;19007248;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19615748;19651622;19691289;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21406692;21419344;21654843;22072790;22121020;22139155;22190735;22195017;22645359;22916032;23085078;23186163;23217742;23234702;23269699;23328677;23439679;23481700;23482395;23636399;23685075;23739916;23746841;2388630;24366607;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25502872;25505266;25525153;25576301;25578875;25802875;25810538;25880248;25969445;26154972;26237581;26375851;26728094;26758079;26992070;27526673;27600516;27846572;27920218;28065601;28132843;28218747;28228285;28467828;28685749;28832583;28834231;28904123;29242379;29314611;29317506;29331515;29393594;29413899;29437277;29493099;29557506;29632312;29632711;29786170;30192525;30244831;30293783;30315122;30429286;30484775;30573663;30804176;31011209;31020640;31154438;31217245;31222486;31611695;31844290;31848261;32099016;32157095;32161166;32350084;32387766;32488085;32502341;32579943;32669547;32897882;32938616;32983136;33043033;33091337;33123756;33214551;33392160;33406423;33592498;33633747;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34357683;34509645;34725712;34932366;35051231;35138101;35154160;35318648;35561310;35580925;36241641;36284347;36302773;36581221;37676773;37938771;38665916;40930100;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed]; Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. 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": 5, "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": "B2R591;P04645;Q502Z6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0014069 postsynaptic density", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0050829 defense response to Gram-negative bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 28.5, "record_id": "P62888-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP56-1", "uniprot_id": [ { "id": "PDE7B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP56", "type": "external" } ], "mass": 51835.0, "length": 450, "protein_name": "3',5'-cyclic-AMP phosphodiesterase 7B", "gene_name": "PDE7B", "organism": "Human", "refseq_name": "3',5'-cyclic-AMP phosphodiesterase 7B", "refseq_ac": [ { "id": "NP_061818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061818", "type": "external" } ], "gene_names_uniprotkb": "PDE7B", "gene_names_refseq": "PDE7B; bA472E5.1", "protein_names_uniprotkb": "3',5'-cyclic-AMP phosphodiesterase 7B; 3.1.4.53; cAMP-specific phosphodiesterase 7B", "protein_names_refseq": "3',5'-cyclic-AMP phosphodiesterase 7B; cAMP-specific 3',5'-cyclic phosphodiesterase 7B; cAMP-specific phosphodiesterase 7B; high-affinity cAMP-specific 3',5'-cyclic phosphodiesterase; rolipram-insensitive phosphodiesterase type 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:27115); (R-HSA-418555)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10814504;10872825;11007482;11237011;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15765929;15769620;15951850;16313925;16687412;16923326;17168849;18044684;18577758;19033455;19105585;19850283;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;26417854;27092952;2871555;29443750;29557506;29602314;30209363;30323354;30833991;3127824;31279028;31399091;31740742;31844290;31848261;31983287;32226383;32387766;32497535;32540603;32618402;32715661;32938616;33049737;33968037;37938771;38778317;6085243;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "Both low miR-200c and high PDE7B expression were correlated with poor survival of breast cancer patients. Our study supports a critical role of miR-200c/PDE7B relationship in triple-negative breast cancer tumorigenesis., [RefSeq, PubMed]; Higher levels than in normal B-cell of PDE7B are found in chronic lymphocytic leukemia, [RefSeq, PubMed]; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes (PubMed:10814504, PubMed:10872825). May be involved in the control of cAMP-mediated neural activity and cAMP metabolism in the brain (PubMed:10814504)., [UniProtKB, PubMed, PubMed]; Methylation-regulated tumor suppressor gene PDE7B promotes HCC invasion and metastasis through the PI3K/AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; PDE7B polymorphisms were not associated with schizophrenia risk., [RefSeq, PubMed]; The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009]., [RefSeq]; The Prognostic Significance of PDE7B in Cytogenetically Normal Acute Myeloid Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; We have identified three novel loci (PDE7B, UBL3, and a new independent marker in CDKN2B-AS1) associated with BRCAX, and replicated previously reported SNPs (24 of 92) and moderate/high-penetrance (seven of 23) genes for Korean BRCAX. For the novel candidate loci, evidence supported their roles in regulatory function Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5W154", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity;GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0045202 synapse", "go_biological_process": "GO:0007165 signal transduction;GO:0007268 chemical synaptic transmission;GO:0006198 cAMP catabolic process;GO:0141162 negative regulation of cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9NP56-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3B8-1", "uniprot_id": [ { "id": "ORN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3B8", "type": "external" } ], "mass": 26833.0, "length": 237, "protein_name": "Oligoribonuclease, mitochondrial", "gene_name": "REXO2", "organism": "Human", "refseq_name": "oligoribonuclease, mitochondrial precursor", "refseq_ac": [ { "id": "NP_056338", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056338", "type": "external" } ], "gene_names_uniprotkb": "REXO2; CGI-114; SFN; SMFN", "gene_names_refseq": "CGI-114; REX2; REXO2; RFN; SFN", "protein_names_uniprotkb": "Oligoribonuclease, mitochondrial; 3.1.15.-; RNA exonuclease 2 homolog; Small fragment nuclease", "protein_names_refseq": "REX2, RNA exonuclease 2 homolog; RNA exonuclease 2 homolog; oligoribonuclease, mitochondrial precursor; oligoribonuclease, mitochondrial; small fragment nuclease", "tax_id": 9606, "disease": "", "pathway": " (hsa:25996); (R-HSA-9836573)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10851236;11230166;11237011;15096047;15362935;15592455;16682444;18023590;18083107;18507432;19509288;19864255;20200222;22210891;22661577;23221631;23301498;23473033;23741365;24129315;24275569;24715725;25418920;25576301;25645385;25880248;26811146;26992070;27600516;28228285;28832583;29146908;29242379;29288125;29366917;29393594;29557506;29632046;29632711;29786170;29789417;29967381;30046113;30524438;30833945;30926754;31154438;31217245;31588022;31844290;32157095;32354376;32357974;32365187;32387766;32488085;32938616;32983136;33592498;33691108;33936100;33968037;34019948;34088969;34171305;34357683;34509645;35051231;35251023;35318648;35481630;35580925;36241641;36284347;37217939;38665916;40596516", "class_list": "", "function": "3'-to-5'exoribonuclease that preferentially degrades DNA and RNA oligonucleotides composed of only two nucleotides., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Efficient RNA turnover by REXO2 is thus required to maintain promoter specificity and proper regulation of transcription in mammalian mitochondria., [RefSeq, PubMed]; Germline variant in REXO2 is a novel candidate gene in familial pheochromocytoma. Publication Status: Online-Only, [RefSeq, PubMed]; Human REXO2 controls short mitochondrial RNAs generated by mtRNA processing and decay machinery to prevent accumulation of double-stranded RNA., [RefSeq, PubMed]; RUNX1 and REXO2 are associated with the heterogeneity and prognosis of IDH wild type lower grade glioma. Publication Status: Online-Only, [RefSeq, PubMed]; SFN expression is involved in resistance of RSa cells to UV-C-induced cell death through the roles it plays in the DNA repair process, [RefSeq, PubMed]; The expression in E. coli of orn and homologues from Mycobacterium smegmatis and human, and large-scale purification of the three enzymes, is reported., [RefSeq, PubMed]; This gene encodes a 3'-to-5' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 14, "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": "B2R532;Q32Q18;Q53FT1;Q6FIC6;Q9UFY7", "ec_number_list": [ { "id": "3.1.15.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.15.-", "type": "external" } ], "go_molecular_function": "GO:0008296 3'-5'-DNA exonuclease activity;GO:0000287 magnesium ion binding;GO:0003676 nucleic acid binding;GO:0008408 3'-5' exonuclease activity;GO:0000175 3'-5'-RNA exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0009117 nucleotide metabolic process;GO:0006139 nucleobase-containing compound metabolic process;GO:2000827 mitochondrial RNA surveillance", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9Y3B8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5BKU9-1", "uniprot_id": [ { "id": "OXLD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5BKU9", "type": "external" } ], "mass": 15855.0, "length": 147, "protein_name": "Oxidoreductase-like domain-containing protein 1", "gene_name": "OXLD1", "organism": "Human", "refseq_name": "oxidoreductase-like domain-containing protein 1 isoform a", "refseq_ac": [ { "id": "NP_001034931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034931", "type": "external" } ], "gene_names_uniprotkb": "OXLD1; C17orf90", "gene_names_refseq": "C17orf90; OXLD1", "protein_names_uniprotkb": "Oxidoreductase-like domain-containing protein 1", "protein_names_refseq": "oxidoreductase-like domain-containing protein 1 isoform a; oxidoreductase-like domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:339229)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;20877624;28904123;29557506;30429286;31844290;32157095;32897882;32938616;33912179;34171305;34932366;35051231;36284347", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6ND24", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q5BKU9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60522-1", "uniprot_id": [ { "id": "TDRD6_HUMAN", "url": "https://www.uniprot.org/uniprot/O60522", "type": "external" } ], "mass": 236517.0, "length": 2096, "protein_name": "Tudor domain-containing protein 6", "gene_name": "TDRD6", "organism": "Human", "refseq_name": "tudor domain-containing protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001010870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010870", "type": "external" } ], "gene_names_uniprotkb": "TDRD6", "gene_names_refseq": "CT41.2; NY-CO-45; SPATA36; TDR2; TDRD6; bA446F17.4", "protein_names_uniprotkb": "Tudor domain-containing protein 6; Antigen NY-CO-45; CT41.2; Cancer/testis antigen 41.2", "protein_names_refseq": "antigen NY-CO-45; cancer/testis antigen 41.2; spermatogenesis associated 36; tudor domain-containing protein 6 isoform 1; tudor domain-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:221400); (R-HSA-5601884)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "11237011;18922463;21465557;22233380;23056369;23826142;23980886;24656595;27920218;28860189;29551503;29557506;31844290;32387766;32488085;32938616;33633747;34561969;35051231;36010968;36284347;38341271;9610721", "class_list": "", "function": "Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsense mediated decay (NMD) pathway. This protein is a major autoantigen in human patients with autoimmune polyendocrine syndrome type 1 (APS1). [provided by RefSeq, Oct 2016]., [RefSeq]; Tudor domain-containing protein involved in germ cell development, more specifically the formation of chromatoid body (during spermiogenesis), Balbiani body (during oogenesis), germ plasm (upon fertilization), and for proper miRNA expression and spliceosome maturation (By similarity). Essential for RNA-dependent helicase UPF1 localization to chromatoid body, for UPF1-UPF2 and UPF1-DDX4 interactions which are required for mRNA degradation, using the extended 3' UTR-triggered nonsense-mediated mRNA decay (NMD) pathway. Involved in spliceosome maturation and mRNA splicing in prophase I spermatocytes through interaction with arginine N-methyltransferase PRMT5 and symmetrically arginine dimethylated SNRPB (small nuclear ribonucleoprotein-associated protein) (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Whole-exome sequencing results in a patient with oligoasthenoteratozoospermia (OAT) from a consanguineous family identified a rare homozygous variant in TDRD6 which co-segregated with the OAT phenotype., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KWU2;F5H5M3;Q5HYB1;Q5VTS4;Q6ZMX5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0033391 chromatoid body;GO:0043186 P granule", "go_biological_process": "GO:0030719 P granule organization;GO:0007283 spermatogenesis;GO:0034587 piRNA processing", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "O60522-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HC10-1", "uniprot_id": [ { "id": "OTOF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HC10", "type": "external" } ], "mass": 226753.0, "length": 1997, "protein_name": "Otoferlin", "gene_name": "OTOF", "organism": "Human", "refseq_name": "otoferlin isoform e", "refseq_ac": [ { "id": "NP_001274418", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274418", "type": "external" } ], "gene_names_uniprotkb": "OTOF; FER1L2", "gene_names_refseq": "AUNB1; DFNB6; DFNB9; FER1L2; NSRD9; OTOF", "protein_names_uniprotkb": "Otoferlin; Fer-1-like protein 2", "protein_names_refseq": "fer-1-like family member 2; fer-1-like protein 2; otoferlin isoform e", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 9 (Disease Ontology:DOID:0110535); limb-girdle muscular dystrophy (Disease Ontology:DOID:11724); hypothyroidism (Disease Ontology:DOID:1459)", "pathway": " (hsa:9381); (R-HSA-9609523); (R-HSA-9662360)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10025409;10192385;10903124;11163272;11237011;12114484;12127154;15708368;16097006;16283880;16371502;16777091;16959974;17382883;18381613;18477612;19664995;20375064;20676083;21444755;21466504;21636303;21743475;23041287;23129660;23142665;23246001;23533635;24392163;24715725;25179605;25415308;25535373;25713138;26437881;26675233;26707827;27193484;27226539;27458190;27535533;28104892;28228285;28489076;29242231;29242379;29393594;29557506;32387766;32938616;33633747;33912179;33968037;33981976;34087483;34171305;35051231;36241641;36988134;37189200;38139069;38811176;9175703", "class_list": "", "function": "Intronic OTOF mutation causes an atypical splicing defect resulting in auditory neuropathy spectrum disorder., [RefSeq, PubMed]; Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity)., [UniProtKB, UniProtKB]; Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder. Publication Status: Online-Only, [RefSeq, PubMed]; This publication deals with otoferlin (FER-1), which is similar to FER1L4, in both C. elegans and humans., [RefSeq, PubMed]; This publication deals with the otoferlin, which is related in sequence to FER1L4., [RefSeq, PubMed]; [The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DJX0;B5MCC1;B9A0H6;Q53R90;Q9HC08;Q9HC09;Q9Y650", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0046928 regulation of neurotransmitter secretion;GO:0007605 sensory perception of sound;GO:0061025 membrane fusion;GO:0016079 synaptic vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9HC10-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86T96-1", "uniprot_id": [ { "id": "RN180_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86T96", "type": "external" } ], "mass": 68254.0, "length": 592, "protein_name": "E3 ubiquitin-protein ligase RNF180", "gene_name": "RNF180", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF180 isoform 1", "refseq_ac": [ { "id": "NP_001107033", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107033", "type": "external" } ], "gene_names_uniprotkb": "RNF180", "gene_names_refseq": "RINES; RNF180", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF180; 2.3.2.27; RING finger protein 180; RING-type E3 ubiquitin transferase RNF180", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF180 isoform 1; E3 ubiquitin-protein ligase RNF180; RING-type E3 ubiquitin transferase RNF180", "tax_id": 9606, "disease": "", "pathway": " (hsa:285671)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;21717426;22563461;24833402;25769451;25802875;26805552;26992070;27223257;28228285;29242379;30315122;30379171;30429286;31844290;32157095;32387766;33082325;33141586;33392160;33592498;33931579;34087483;34561969;35051231;35580925;37147733", "class_list": "", "function": "DNMT3A-mediated silence in ADAMTS9 expression is restored by RNF180 to inhibit viability and motility in gastric cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Data indicate that the ring finger protein 180 (RNF180) and HTR1A showed association to T1D in the Swedish and Danish families., [RefSeq, PubMed]; E3 ubiquitin ligase RNF180 prevents excessive PCDH10 methylation to suppress the proliferation and metastasis of gastric cancer cells by promoting ubiquitination of DNMT1. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase which promotes polyubiquitination and degradation by the proteasome pathway of ZIC2., [UniProtKB, UniProtKB]; Hypermethylated CpG site count of E3 ubiquitin ligase Ring finger protein 180 promoter for evaluating the prognosis of gastric cancer was reasonable by using the direct bisulfite sequencing., [RefSeq, PubMed]; RNF180 is a novel potential tumor suppressor in gastric carcinogenesis., [RefSeq, PubMed]; RNF180 is capable of inhibiting lymph node metastasis of gastric cancer by suppressing the intracellular activation of malignant molecular signals., [RefSeq, PubMed]; RNF180 mediates STAT3 activity by regulating the expression of RhoC via the proteasomal pathway in gastric cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; The methylated status of the key CpG islands of RNF180 DNA promoter may be used to predict the variations of the malignant biological characteristics of gastric cancer cells., [RefSeq, PubMed]; We found that only few methylated CpG sites of RNF180 promoter was appropriate to predict the survival of gastric cancer, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0JSU3;Q495A8;Q8NBD1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0031624 ubiquitin conjugating enzyme binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0042428 serotonin metabolic process;GO:0042415 norepinephrine metabolic process;GO:0000209 protein polyubiquitination;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q86T96-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96G74-1", "uniprot_id": [ { "id": "OTUD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96G74", "type": "external" } ], "mass": 60626.0, "length": 571, "protein_name": "OTU domain-containing protein 5", "gene_name": "OTUD5", "organism": "Human", "refseq_name": "OTU domain-containing protein 5 isoform b", "refseq_ac": [ { "id": "NP_001129629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129629", "type": "external" } ], "gene_names_uniprotkb": "OTUD5", "gene_names_refseq": "DUBA; MCAND; OTUD5", "protein_names_uniprotkb": "OTU domain-containing protein 5; 3.4.19.12; DUBA; Deubiquitinating enzyme A", "protein_names_refseq": "OTU domain containing 5; OTU domain-containing protein 5 isoform b; OTU domain-containing protein 5; deubiquinating enzyme A; deubiquitinase A; deubiquitinating enzyme A", "tax_id": 9606, "disease": "multiple congenital anomalies-neurodevelopmental syndrome, X-linked (MONDO:MONDO:0025351)", "pathway": " (hsa:55593); (R-HSA-5689896); (R-HSA-936440)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "10385526;11237011;11463333;14661020;15258597;15302935;15334086;16699525;16715065;16964243;17924679;17991829;18057259;18200010;18452278;18669648;18691976;19125153;19383985;19413330;19415658;19464428;19651622;19664994;19664995;19690332;19818707;19881509;19893624;19996094;20068231;20230923;20304918;20434986;20553488;22124327;22245969;22706990;22898188;23186163;23301498;23481700;23827681;24143256;24275569;24610782;24714562;24715725;25576301;25645385;25892735;25904330;26154972;26280536;26728094;26992070;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30524438;30833945;31154438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32655987;32897882;32938616;32983136;33110214;33123756;33141586;33298915;33392160;33417762;33523931;33592498;33633747;33691108;33717175;33748114;33912179;33936100;33981976;34087483;34171305;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37190070;37938771;38036082;38110369;38658981;39420004", "class_list": "", "function": "Autophagy of OTUD5 destabilizes GPX4 to confer ferroptosis-dependent kidney injury. Publication Status: Online-Only, [RefSeq, PubMed]; Data identify DUBA as a negative regulator of innate immune responses, [RefSeq, PubMed]; Deubiquitinating enzyme that functions as a negative regulator of the innate immune system (PubMed:17991829, PubMed:22245969, PubMed:23827681, PubMed:33523931). Has peptidase activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:22245969). Can also cleave 'Lys-11'-linked ubiquitin chains (in vitro) (PubMed:22245969). Acts via TRAF3 deubiquitination and subsequent suppression of type I interferon (IFN) production (PubMed:17991829). Controls neuroectodermal differentiation through cleaving 'Lys-48'-linked ubiquitin chains to counteract degradation of select chromatin regulators such as ARID1A, HDAC2 and HCF1 (PubMed:33523931). Acts as a positive regulator of mTORC1 and mTORC2 signaling following phosphorylation by MTOR: acts by mediating deubiquitination of BTRC, leading to its stability (PubMed:33110214)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Deubiquitinating enzyme that functions as a negative regulator of the innate immune system. Has peptidase activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Can also cleave 'Lys-11'-linked ubiquitin chains (in vitro). Acts via TRAF3 deubiquitination and subsequent suppression of type I interferon (IFN) production. Controls neuroectodermal differentiation through cleaving 'Lys-48'-linked ubiquitin chains to counteract degradation of select chromatin regulators such as ARID1A, HDAC2 and HCF1. Acts as a positive regulator of mTORC1 and mTORC2 signaling following phosphorylation by MTOR: acts by mediating deubiquitination of BTRC, leading to its stability., [UniProtKB, UniProtKB]; Hepatocyte Deubiquitinating Enzyme OTUD5 Deficiency is a Key Aggravator for Metabolic Dysfunction-Associated Steatohepatitis by Disturbing Mitochondrial Homeostasis., [RefSeq, PubMed]; Here the authors show that phosphorylation of the human deubiquitinase DUBA (OTUD5) at a single residue, Ser177, is both necessary and sufficient to activate the enzyme. Publication Status: Online-Only, [RefSeq, PubMed]; OTUD5 is required for the stabilization and the activation of a p53 response Publication Status: Online-Only, [RefSeq, PubMed]; OTUD5 promotes end-joining of deprotected telomeres by promoting ATM-dependent phosphorylation of KAP1[S824]. Publication Status: Online-Only, [RefSeq, PubMed]; OTUD5 promotes the growth of hepatocellular carcinoma by deubiquitinating and stabilizing SLC38A1. Publication Status: Online-Only, [RefSeq, PubMed]; The Regulation and Double-Edged Roles of the Deubiquitinase OTUD5. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response by cleaving the polyubiquitin chain from an essential type I interferon adaptor protein. Cleavage results in disassociation of the adaptor protein from a downstream signaling complex and disruption of the type I interferon signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 8, "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": "B4DGG7;G5E9D7;Q4KMN9;Q8N6T5;Q9H650;Q9H9U0;Q9NT65", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "3.4.19.12", "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:0061578 K63-linked deubiquitinase activity;GO:1990380 K48-linked deubiquitinase activity;GO:0101005 deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0032496 response to lipopolysaccharide;GO:0070536 protein K63-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q96G74-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P83731-1", "uniprot_id": [ { "id": "RL24_HUMAN", "url": "https://www.uniprot.org/uniprot/P83731", "type": "external" } ], "mass": 17779.0, "length": 157, "protein_name": "Large ribosomal subunit protein eL24", "gene_name": "RPL24", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL24", "refseq_ac": [ { "id": "NP_000977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000977", "type": "external" } ], "gene_names_uniprotkb": "RPL24", "gene_names_refseq": "HEL-S-310; L24; RPL24; eL24", "protein_names_uniprotkb": "Large ribosomal subunit protein eL24; 60S ribosomal protein L24; 60S ribosomal protein L30", "protein_names_refseq": "60S ribosomal protein L24; 60S ribosomal protein L30; epididymis secretory protein Li 310; large ribosomal subunit protein eL24; ribosomal protein L30", "tax_id": 9606, "disease": "optic atrophy (Disease Ontology:DOID:5723)", "pathway": " (hsa:6152); (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": 297, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15004565;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17081983;17142313;17189298;17267404;17287340;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18212344;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18767875;18974281;18991276;19060897;19106111;19150429;19332556;19359157;19369195;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20112406;20305658;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22190735;22195017;22645359;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24275569;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25469497;25525153;25576301;25578875;25810538;25892735;25969445;26024233;26154972;26237581;26375851;26728094;26929215;26992070;27526673;27600516;27846572;27920218;28063628;28065601;28132843;28218747;28228285;28467828;28649982;28685749;28832583;28834231;28904123;29242379;29317506;29331515;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632312;29632711;29769354;29789417;30192525;30244831;30293783;30315122;30410026;30429286;30484775;30779550;30804176;31011209;31020640;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32099016;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32579943;32669547;32897882;32938616;32983136;33091337;33123756;33141586;33214551;33298915;33392160;33406423;33592498;33633747;33691108;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34314702;34357683;34561969;34725712;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36215666;36241641;36284347;36302773;37217939;37676773;37938771;38261097;38665916;39395807;41315256;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8428672;8890909;9029102;9211906;9431993;9482744;9582194;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, PubMed, PubMed]; Ribosomal protein L24 mediates mammalian microRNA processing in an evolutionarily conserved manner. Publication Status: Online-Only, [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24E family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as ribosomal protein L30 because the encoded protein shares amino acid identity with the L30 ribosomal proteins from S. cerevisiae; however, its official name is ribosomal protein L24. 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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R4Y3;P38663;Q6IBS3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0045296 cadherin binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 30.0, "record_id": "P83731-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13415-1", "uniprot_id": [ { "id": "ORC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13415", "type": "external" } ], "mass": 97350.0, "length": 861, "protein_name": "Origin recognition complex subunit 1", "gene_name": "ORC1", "organism": "Human", "refseq_name": "origin recognition complex subunit 1 isoform 1", "refseq_ac": [ { "id": "NP_001177747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177747", "type": "external" } ], "gene_names_uniprotkb": "ORC1; ORC1L; PARC1", "gene_names_refseq": "HSORC1; ORC1L; ORC1; PARC1", "protein_names_uniprotkb": "Origin recognition complex subunit 1; Replication control protein 1", "protein_names_refseq": "origin recognition complex subunit 1 isoform 1; origin recognition complex, subunit 1 homolog; replication control protein 1", "tax_id": 9606, "disease": "Meier-Gorlin syndrome (Disease Ontology:DOID:0060306); Meier-Gorlin syndrome 1 (Disease Ontology:DOID:0080512)", "pathway": " (hsa:4998); (R-HSA-113507); (R-HSA-176187); (R-HSA-68616); (R-HSA-68689); (R-HSA-68867); (R-HSA-68949); (R-HSA-68962); (R-HSA-69205)", "pathway_count": 9, "publication_count": 162, "publication_id_list": "10051570;10228158;10373362;10373557;10438470;10454584;10518787;10523313;10597240;10692433;10757793;10777662;10827953;10846177;10859164;10882098;10884341;11095689;11125146;11248027;11390642;11562349;11739726;11931757;11959842;11988738;12045100;12399544;12578958;12676583;12676925;12759351;12782299;12791985;12909626;12909627;12963847;14500360;14603323;14605214;14624239;14672932;14990995;15014447;15190204;15226314;15510213;15684404;15707391;15707891;15743907;15833913;16115862;16327781;16407120;16549788;16762929;16824194;17081983;17234884;17485488;17680271;17716973;18480045;18669648;19413330;19608861;19896182;20068231;21358631;21358632;21358633;21406692;21555516;22398447;22405012;22645314;22751019;23186163;23187890;23603117;23795651;23851460;24003239;24366607;24715725;25231993;25576301;25689043;25762138;25784553;25880248;26139588;26222030;26811146;26992070;27249176;27846572;28112645;28904123;29437277;29493099;29899147;30379171;31217245;31844290;32265295;32357974;32387766;32488085;32502341;32808929;32848132;32897882;32938616;33141586;33298899;33298915;33392160;33592498;33633747;33691108;33761311;33801762;33912179;33936100;33968037;33981976;34087483;34131285;34171305;34185709;34561969;34932366;35051231;35561310;35580925;36010968;36241641;36581221;36700467;37772772;37833711;37938771;7502077;7623816;7929342;8114698;8196638;8288595;8618861;8943031;8943353;9020173;9278511;9278512;9520412;9566895;9635433;9660782;9662327;9778043", "class_list": "", "function": "Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication., [UniProtKB]; Direct regulation of FNIP1 and FNIP2 by MEF2 sustains MTORC1 activation and tumor progression in pancreatic cancer., [RefSeq, PubMed]; Multiple, short protein binding motifs in ORC1 and CDC6 control the initiation of DNA replication., [RefSeq, PubMed]; Origin recognition complex subunit 1 (ORC1) augments malignant behaviors of lung adenocarcinoma cells via targeting Wnt signaling., [RefSeq, PubMed]; Origin recognition complex subunit 1(ORC1) is a potential biomarker and therapeutic target in cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 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": 24, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DQ34;Q13471;Q5T0F5", "ec_number_list": [], "go_molecular_function": "GO:0003688 DNA replication origin binding;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005664 nuclear origin of replication recognition complex;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0006270 DNA replication initiation;GO:0033314 mitotic DNA replication checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q13415-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQN1-1", "uniprot_id": [ { "id": "OR2S1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQN1", "type": "external" } ], "mass": 35172.0, "length": 319, "protein_name": "Olfactory receptor 2S2", "gene_name": "OR2S2", "organism": "Human", "refseq_name": "olfactory receptor 2S2", "refseq_ac": [ { "id": "NP_063950", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_063950", "type": "external" } ], "gene_names_uniprotkb": "OR2S2", "gene_names_refseq": "OR2S2; OR37A; OST715", "protein_names_uniprotkb": "Olfactory receptor 2S2; Olfactory receptor OR9-3", "protein_names_refseq": "olfactory receptor 2S2; olfactory receptor OR9-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:56656); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;20677014;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986;32938616;35051231;36215666", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q2M3L0;Q6IF19;Q96R42", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell;GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9NQN1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HB90-1", "uniprot_id": [ { "id": "RRAGC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HB90", "type": "external" } ], "mass": 44224.0, "length": 399, "protein_name": "Ras-related GTP-binding protein C", "gene_name": "RRAGC", "organism": "Human", "refseq_name": "ras-related GTP-binding protein C isoform 2", "refseq_ac": [ { "id": "NP_001258780", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258780", "type": "external" } ], "gene_names_uniprotkb": "RRAGC", "gene_names_refseq": "GTR2; LNGODS; LNGOS; RAGC; RRAGC; TIB929", "protein_names_uniprotkb": "Ras-related GTP-binding protein C; 3.6.5.-; GTPase-interacting protein 2; Rag C; RagC; TIB929", "protein_names_refseq": "GTPase-interacting protein 2; Rag C protein; ras-related GTP-binding protein C isoform 2; ras-related GTP-binding protein C", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); follicular lymphoma (Disease Ontology:DOID:0050873); candidiasis (Disease Ontology:DOID:1508); Long-Olsen-Distelmaier syndrome (MONDO:MONDO:0957960)", "pathway": " (hsa:64121); (R-HSA-1632852); (R-HSA-165159); (R-HSA-166208); (R-HSA-380972); (R-HSA-5628897); (R-HSA-8943724); (R-HSA-9639288)", "pathway_count": 8, "publication_count": 250, "publication_id_list": "10.1101/2023.09.13.557529;10329961;10654941;10716435;10745013;10980602;11018120;11029283;11034341;11073942;11096062;11145883;11340051;11378386;11486029;11545734;11781575;11825910;11959846;12150926;12151408;12161445;12203114;12438239;12453409;12524439;12714747;12742462;12805220;12869586;12906785;13298683;13538944;14511394;14517248;14614828;14651849;14660641;14985505;15105503;15187094;15223;15314020;15579580;15589136;15755954;15809305;15854902;15878852;16098514;16140933;16413492;16418168;16636147;16676006;16702404;16728594;16760263;16839880;16943194;16963840;1715244;17277771;17298220;17386266;17470430;17486094;17510057;17517883;17540029;17618624;17873065;17974977;18172008;18198340;18321988;18344994;18372248;18391013;18439900;18487508;18497260;18604198;18692468;19113821;19211835;19322194;19413330;19439913;19440552;19487573;19590496;19651622;19822145;19855179;19884659;19898463;20059746;20068231;20080666;20182617;20233713;20351271;20378837;20381137;20516213;20713597;20921139;21177865;21205641;21258367;21289308;21383122;21460621;21602892;21750704;21819378;21958598;22053050;22128185;22170151;22363791;22575674;22682742;22980980;23186163;23202584;23287862;23301498;23481700;23685627;23723238;23727157;23775793;23884233;24066844;24081491;24095279;24366874;24383451;24718924;24747438;24954904;25259925;25263562;25457612;25484072;25505266;25561175;25567906;25568151;25576301;25579166;25645385;25728608;25819761;25880248;25961827;25963655;26154972;26449471;26586190;26652033;26691987;26910647;26972053;27234373;27308486;27487210;27600516;27648300;27920218;28063628;28066558;28199306;28199315;28228285;28832583;28860189;28904123;28935770;29053970;29056322;29123071;29236692;29242379;29393594;29508533;29557506;29590090;29632046;29632711;29786170;30061680;30181260;30429286;30524438;30573663;30651352;31217245;31601708;31601764;31672913;31704029;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32612235;32868926;32938616;32983136;33043033;33141586;33298915;33392160;33537174;33592498;33912179;33936100;33968037;34071043;34185709;34357683;34433824;34509645;35051231;35058442;35154160;35338845;36010968;36103527;36284347;36580660;36697823;37057673;5666113;7499430;7628435;7979252;7989588;8119488;8549768;8779952;9721431;9926927", "class_list": "", "function": "De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood., [RefSeq, PubMed]; Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade (PubMed:20381137, PubMed:24095279, PubMed:27234373, PubMed:31601708, PubMed:31601764, PubMed:32612235, PubMed:34071043, PubMed:36697823, PubMed:37057673). Forms heterodimeric Rag complexes with RagA/RRAGA or RagB/RRAGB and cycles between an inactive GTP-bound and an active GDP-bound form: RagC/RRAGC is in its active form when GDP-bound RagC/RRAGC forms a complex with GTP-bound RagA/RRAGA (or RagB/RRAGB) and in an inactive form when GTP-bound RagC/RRAGC heterodimerizes with GDP-bound RagA/RRAGA (or RagB/RRAGB) (PubMed:24095279, PubMed:31601708, PubMed:31601764, PubMed:32868926). In its GDP-bound active form, promotes the recruitment of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB (PubMed:20381137, PubMed:24095279, PubMed:27234373, PubMed:32612235, PubMed:36697823). This is a crucial step in the activation of the MTOR signaling cascade by amino acids (PubMed:20381137, PubMed:24095279, PubMed:27234373). Also plays a central role in the non-canonical mTORC1 complex, which acts independently of RHEB and specifically mediates phosphorylation of MiT/TFE factors TFEB and TFE3: GDP-bound RagC/RRAGC mediates recruitment of MiT/TFE factors TFEB and TFE3 (PubMed:32612235, PubMed:36697823)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex., [RefSeq, PubMed]; This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9H202;Q9H8Q8", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec: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": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.6.1.6", "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:0060090 molecular adaptor activity;GO:0000287 magnesium ion binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005764 lysosome", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0006351 DNA-templated transcription;GO:0006915 apoptotic process;GO:0007264 small GTPase-mediated signal transduction;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 25.5, "record_id": "Q9HB90-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6R0-1", "uniprot_id": [ { "id": "NUMBL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6R0", "type": "external" } ], "mass": 64891.0, "length": 609, "protein_name": "Numb-like protein", "gene_name": "NUMBL", "organism": "Human", "refseq_name": "numb-like protein isoform b", "refseq_ac": [ { "id": "NP_001276908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276908", "type": "external" } ], "gene_names_uniprotkb": "NUMBL", "gene_names_refseq": "CAG3A; CTG3a; NBL; NUMB-R; NUMBLIKE; NUMBL; NUMBR; TNRC23", "protein_names_uniprotkb": "Numb-like protein; Numb-R; Numb-related protein", "protein_names_refseq": "numb homolog-like; numb-like protein isoform b; numb-like protein; numb-related protein", "tax_id": 9606, "disease": "brain cancer (Disease Ontology:DOID:1319)", "pathway": " (hsa:9253)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;17081983;18299187;18452278;18669648;20068231;20079715;23186163;23481700;24397554;25576301;25892735;26154972;26375851;26811146;26992070;27600516;27869121;28067668;28514659;28657654;28904123;29242379;29331515;29393594;29508533;29557506;29632046;29769354;29786170;30315122;30379171;30779550;31154438;31217245;31530632;31844290;31998317;32157095;32357974;32502341;32938616;32983136;33298915;33592498;33912179;33936100;33968037;33981976;34171305;34211107;35051231;35318648;35580925;35599603;36010968;36284347;38665916;9303539", "class_list": "", "function": "Investigations revealed that NUMB and NUMBL interacted with small GTPase Rab7 to transition ERBB2 from early to late endosome for degradation., [RefSeq, PubMed]; Plays a role in the process of neurogenesis., [UniProtKB, UniProtKB]; Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the onset of embryonic neurogenesis. Also required postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity. Negative regulator of NF-kappa-B signaling pathway. The inhibition of NF-kappa-B activation is mediated at least in part, by preventing MAP3K7IP2 to interact with polyubiquitin chains of TRAF6 and RIPK1 and by stimulating the 'Lys-48'-linked polyubiquitination and degradation of TRAF6 in cortical neurons., [UniProtKB, PubMed, PubMed]; SLC8A1 antisense RNA 1 suppresses papillary thyroid cancer malignant progression via the FUS RNA binding protein (FUS)/NUMB like endocytic adaptor protein (Numbl) axis., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z4J9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm", "go_biological_process": "GO:0007399 nervous system development;GO:0050775 positive regulation of dendrite morphogenesis;GO:0021670 lateral ventricle development;GO:0019221 cytokine-mediated signaling pathway;GO:0050769 positive regulation of neurogenesis", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9Y6R0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TE49-1", "uniprot_id": [ { "id": "OTU7A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TE49", "type": "external" } ], "mass": 100677.0, "length": 926, "protein_name": "OTU domain-containing protein 7A", "gene_name": "OTUD7A", "organism": "Human", "refseq_name": "OTU domain-containing protein 7A isoform 1", "refseq_ac": [ { "id": "NP_570971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570971", "type": "external" } ], "gene_names_uniprotkb": "OTUD7A; C15orf16; CEZANNE2; OTUD7", "gene_names_refseq": "C15orf16; C16ORF15; CEZANNE2; NEDHS; OTUD7A; OTUD7", "protein_names_uniprotkb": "OTU domain-containing protein 7A; 3.4.19.12; Zinc finger protein Cezanne 2", "protein_names_refseq": "OTU domain-containing 7A; OTU domain-containing protein 7A isoform 1; OTU domain-containing protein 7A; cezanne 2; zinc finger protein Cezanne 2", "tax_id": 9606, "disease": "chromosome 15q13.3 microdeletion syndrome (Disease Ontology:DOID:0060394); neurodevelopmental disorder with hypotonia and seizures (MONDO:MONDO:0968979)", "pathway": " (hsa:161725); (R-HSA-5689896)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10385526;11237011;11463333;14661020;15258597;15334086;18507432;19383985;19464428;19818707;19996094;20400778;20553488;20622874;22124327;23792447;23827681;24610782;25576301;25904330;26280536;29557506;30192525;30379171;31844290;31997314;33381903;33830472;34060252;34087483;35051231;37217939", "class_list": "", "function": "Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures., [RefSeq, PubMed]; CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the progression of diffuse large B-cell lymphoma via acting as a sponge of miR-431-5p., [RefSeq, PubMed]; Deubiquitinase, which cleaves 'Lys-11'-linked polyubiquitin chains. Might be required for PA28-20S proteasome assembly (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction., [RefSeq, PubMed]; SPOP and OTUD7A Control EWS-FLI1 Protein Stability to Govern Ewing Sarcoma Growth., [RefSeq, PubMed]; Snail1-mediated suppression of Cezanne2 may have a key role in HCC malignancy., [RefSeq, PubMed]; The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "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": "Q8IWK5", "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:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0016579 protein deubiquitination;GO:0071947 protein deubiquitination involved in ubiquitin-dependent protein catabolic process;GO:0035871 protein K11-linked deubiquitination;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8TE49-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62899-1", "uniprot_id": [ { "id": "RL31_HUMAN", "url": "https://www.uniprot.org/uniprot/P62899", "type": "external" } ], "mass": 14463.0, "length": 125, "protein_name": "Large ribosomal subunit protein eL31", "gene_name": "RPL31", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL31 isoform 1", "refseq_ac": [ { "id": "NP_000984", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000984", "type": "external" } ], "gene_names_uniprotkb": "RPL31", "gene_names_refseq": "L31; RPL31; eL31", "protein_names_uniprotkb": "Large ribosomal subunit protein eL31; 60S ribosomal protein L31", "protein_names_refseq": "60S ribosomal protein L31; large ribosomal subunit protein eL31 isoform 1; large ribosomal subunit protein eL31", "tax_id": 9606, "disease": "", "pathway": " (hsa:6160); (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": 308, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;14978097;15034551;15317934;15385533;15534230;15546618;15592455;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17081983;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18452278;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18974281;18991276;19007248;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19615748;19651622;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21406692;21419344;21654843;21740066;22072790;22121020;22190735;22195017;22916032;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23719902;23739916;23746841;23783831;2388630;24029068;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25505266;25525153;25576301;25578875;25810538;25969445;2597680;26154972;26237581;26375851;26728094;26758079;26811146;26992070;27397612;27452731;27526673;27543614;27600516;2780320;27846572;27920218;28063628;28065601;28132843;28218747;28228285;28467828;28510447;28514659;28685749;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632312;29632711;29786170;29789417;29930882;30192525;30244831;30293783;30315122;30410026;30484775;30524438;30779550;30804176;30833945;31011209;31020640;31154438;31217245;31222486;31530632;31611695;31717259;31844290;31848261;31998317;32099016;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32579943;32669547;32897882;32938616;32983136;33043033;33091337;33141586;33214551;33392160;33406423;33537174;33592498;33633747;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36309731;37217939;37676773;37938771;38665916;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed]; Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Silencing eL31 suppresses the progression of colorectal cancer via targeting DEPDC1. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B7Z4K2;D3DVJ4;P12947;Q53SQ5;Q6IRZ0;Q6LBJ6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 31.1, "record_id": "P62899-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5M7Z0-1", "uniprot_id": [ { "id": "RNFT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5M7Z0", "type": "external" } ], "mass": 49710.0, "length": 435, "protein_name": "E3 ubiquitin-protein ligase RNFT1", "gene_name": "RNFT1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNFT1", "refseq_ac": [ { "id": "NP_057209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057209", "type": "external" } ], "gene_names_uniprotkb": "RNFT1; PTD016", "gene_names_refseq": "PTD016; RNFT1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNFT1; 2.3.2.27; Protein PTD016; RING finger and transmembrane domain-containing protein 1", "protein_names_refseq": "E3 ubiquitin-protein ligase RNFT1; RING finger and transmembrane domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51136)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;17074343;19913121;20628086;25576301;25892735;26992070;27485036;28218747;28832583;29437277;29557506;29769354;30429286;31092671;31844290;32157095;32357974;32387766;32897882;32983136;33298915;33691108;33717175;33968037;34171305;34357683;35051231;35580925;37938771", "class_list": "", "function": "E3 ubiquitin-protein ligase that acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation. Protects cells from ER stress-induced apoptosis., [UniProtKB, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N7D0;Q96IZ9;Q9Y686", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0051865 protein autoubiquitination;GO:1904294 positive regulation of ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q5M7Z0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVS4-1", "uniprot_id": [ { "id": "RIOK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVS4", "type": "external" } ], "mass": 63283.0, "length": 552, "protein_name": "Serine/threonine-protein kinase RIO2", "gene_name": "RIOK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase RIO2 isoform 2", "refseq_ac": [ { "id": "NP_001153221", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153221", "type": "external" } ], "gene_names_uniprotkb": "RIOK2; RIO2", "gene_names_refseq": "RIO2; RIOK2", "protein_names_uniprotkb": "Serine/threonine-protein kinase RIO2; 2.7.11.1; RIO kinase 2", "protein_names_refseq": "serine/threonine-protein kinase RIO2 isoform 2; serine/threonine-protein kinase RIO2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55781); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 146, "publication_id_list": "11237011;11922599;12068309;12150911;16037817;16043514;16738141;17081983;17189298;17322306;17344846;17353269;17412707;18065403;18438418;18452278;18669648;18691976;18767875;19007248;19106111;19332556;19369195;19413330;19415658;19564402;19578876;19651622;19664994;19690332;19801658;20038530;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21081503;21097556;21406692;21880710;22072790;22190735;22195017;22564745;22898188;22916032;23186163;23439679;23459592;23481700;23482395;2388630;24424021;24550520;24715725;25418920;25525153;25576301;25645385;25880248;25892735;25969445;26154972;26237581;26375851;26811146;26992070;27397612;27600516;27846572;27862975;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32125767;32157095;32161166;32265295;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33392160;33537174;33592498;33628587;33912179;33936100;33968037;33981976;34087483;34125833;34171305;34357683;34509645;34561969;34932366;34937919;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36661680;37217939;37938771;40596516;9482744", "class_list": "", "function": "BYSL contributes to tumor growth by cooperating with the mTORC2 complex in gliomas., [RefSeq, PubMed]; Identification of RIOK2 as a master regulator of human blood cell development., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plk1-mediated phosphorylation of Rio2 regulates metaphase-anaphase transition during mitotic progression., [RefSeq, PubMed]; RIOK2 Contributes to Cell Growth and Protein Synthesis in Human Oral Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; RIOK2 is negatively regulated by miR-4744 and promotes glioma cell migration/invasion through epithelial-mesenchymal transition., [RefSeq, PubMed]; RIOK2 phosphorylation by RSK promotes synthesis of the human small ribosomal subunit. Publication Status: Online-Only, [RefSeq, PubMed]; Reduced expression of RIOK1 or RIOK2 disrupted Akt signaling and caused cell cycle exit, apoptosis, and chemosensitivity in glioblastoma cells, [RefSeq, PubMed]; Results show that the protein kinase human Rio2 (hRio2) is part of a late 40S preribosomal particle in human cells., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in export of the 40S pre-ribosome particles (pre-40S) from the nucleus to the cytoplasm. Its kinase activity is required for the release of NOB1, PNO1 and LTV1 from the late pre-40S and the processing of 18S-E pre-rRNA to the mature 18S rRNA (PubMed:19564402). Regulates the timing of the metaphase-anaphase transition during mitotic progression, and its phosphorylation, most likely by PLK1, regulates this function (PubMed:21880710)., [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": 22, "reported_mutagensis": 10, "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": "D6RDI3;Q9NUT0", "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": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "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": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "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": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030688 preribosome, small subunit precursor", "go_biological_process": "GO:2000234 positive regulation of rRNA processing;GO:0030071 regulation of mitotic metaphase/anaphase transition;GO:2000208 positive regulation of ribosomal small subunit export from nucleus;GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q9BVS4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULX5-1", "uniprot_id": [ { "id": "RN112_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULX5", "type": "external" } ], "mass": 68298.0, "length": 631, "protein_name": "RING finger protein 112", "gene_name": "RNF112", "organism": "Human", "refseq_name": "RING finger protein 112", "refseq_ac": [ { "id": "NP_009079", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009079", "type": "external" } ], "gene_names_uniprotkb": "RNF112; BFP; ZNF179", "gene_names_refseq": "BFP; RNF112; ZNF179", "protein_names_uniprotkb": "RING finger protein 112; 2.3.2.27; Brain finger protein; Zinc finger protein 179", "protein_names_refseq": "RING finger protein 112; brain finger protein; neurolastin; zinc finger protein 179", "tax_id": 9606, "disease": "", "pathway": " (hsa:7732)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10574464;11237011;24359566;25576301;25645385;25892735;28684796;28832583;29242379;29557506;31154438;31844290;32350084;33633747;34171305;35051231;35580925;37288663;8660987", "class_list": "", "function": "E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development. During embryonic development initiates neuronal differentiation by inducing cell cycle arrest at the G0/G1 phase through up-regulation of cell-cycle regulatory proteins (PubMed:28684796). Plays a role not only in the fetal period during the development of the nervous system, but also in the adult brain, where it is involved in the maintenance of neural functions and protection of the nervous tissue cells from oxidative stress-induced damage. Exhibits GTPase and E3 ubiquitin-protein ligase activities. Regulates dendritic spine density and synaptic neurotransmission; its ability to hydrolyze GTP is involved in the maintenance of dendritic spine density (By similarity)., [UniProtKB, UniProtKB, PubMed]; Plzf was identified as a specific interacting protein of Znf179; the region containing the first two zinc fingers is critical for its interaction with Znf179. Cellular localization of Znf179 changed from cytoplasm to nucleus when Plzf was co-expressed. Publication Status: Online-Only, [RefSeq, PubMed]; RNF112-mediated FOXM1 ubiquitination suppresses the proliferation and invasion of gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]., [RefSeq]; Znf179 can reprogram glioblastoma multiforme cells into a more-differentiated phenotype and prevent the progression of gliomas to a more-malignant state through p53-mediated cell-cycle signaling pathways. Erratum:[Sci Rep. 2018 Sep 3;8(1):13375. doi: 10.1038/s41598-018-30081-w. PMID: 30177766] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "O60633;Q7Z5V9", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0014069 postsynaptic density", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0030182 neuron differentiation;GO:0051865 protein autoubiquitination;GO:1990403 embryonic brain development;GO:0033194 response to hydroperoxide", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9ULX5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02094-1", "uniprot_id": [ { "id": "RHAG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02094", "type": "external" } ], "mass": 44198.0, "length": 409, "protein_name": "Ammonium transporter Rh type A", "gene_name": "RHAG", "organism": "Human", "refseq_name": "ammonium transporter Rh type A", "refseq_ac": [ { "id": "NP_000315", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000315", "type": "external" } ], "gene_names_uniprotkb": "RHAG; RH50", "gene_names_refseq": "CD241; OHST; OHS; RH2; RH50A; RHAG; RHNR; Rh50GP; Rh50; SLC42A1", "protein_names_uniprotkb": "Ammonium transporter Rh type A; Erythrocyte membrane glycoprotein Rh50; Erythrocyte plasma membrane 50 kDa glycoprotein; Rh family type A glycoprotein; Rh type A glycoprotein; Rh50A; Rhesus blood group family type A glycoprotein; Rhesus blood group-associated ammonia channel; Rhesus blood group-associated glycoprotein", "protein_names_refseq": "Rh 50 glycoprotein; Rhesus associated polypeptide, 50-KD; Rhesus blood group-associated glycoprotein; ammonium transporter Rh type A; erythrocyte membrane glycoprotein Rh50; erythrocyte plasma membrane 50 kDa glycoprotein; mutant Rh associated glycoprotein; rh family type A glycoprotein; rh type A glycoprotein; rhesus blood group family type A glycoprotein; rhesus blood group-associated ammonia channel", "tax_id": 9606, "disease": "Rh deficiency syndrome (Disease Ontology:DOID:0050641); overhydrated hereditary stomatocytosis (Disease Ontology:DOID:0111562); renal tubular acidosis (Disease Ontology:DOID:14219); hemolytic anemia (Disease Ontology:DOID:583)", "pathway": " (hsa:6005); (R-HSA-1237044); (R-HSA-1247673); (R-HSA-444411); (R-HSA-5619042)", "pathway_count": 5, "publication_count": 89, "publication_id_list": "10090333;10467273;10529219;10611283;10852913;11024028;11062476;11237011;11606574;11861637;12130520;12754312;12933803;1311094;1395;1417776;14958;14966114;15131110;15284342;15501038;1554744;15572441;15856280;15858218;16563834;16992238;16994616;17012249;17712059;17990881;18931342;19273840;19668749;19744193;20162361;20230836;21041929;2111324;21849667;22012326;234739;24077989;24715725;2506737;25937211;26354748;27247322;27535533;29351928;30484775;3080418;31154438;3119859;3136125;3146980;31611695;32350084;32378229;32705675;35051231;35251023;35835865;38711255;3938604;4203704;4514311;4647257;4975618;4994926;5656372;6407977;6417382;6433979;6819139;7541176;8070313;8300612;8563755;8875343;8972395;9054574;9143858;9336012;9442063;9454778;9473510;9486145;9716608", "class_list": "", "function": "Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Heterotrimer with RHCE (RHAG)2(RHCE), that transports ammonium and its related derivative methylammonium, in both neutral and ionic forms, across the erythrocyte membrane (PubMed:11062476, PubMed:11861637, PubMed:15572441, PubMed:15856280, PubMed:19273840, PubMed:21849667, PubMed:22012326, PubMed:24077989, PubMed:26354748). The transport of NH4(+) is electrogenic and masks the NH3 transport (PubMed:26354748). Also, may act as a CO2 channel (PubMed:17712059, PubMed:19273840, PubMed:24077989). In vitro, leaks monovalent cations (PubMed:18931342, PubMed:21849667). Moreover in erythrocyte, regulates RHD membrane expression (PubMed:12130520) and is associated with rhesus blood group antigen expression (PubMed:12130520, PubMed:19744193)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Extensive clinical, serologic and molecular studies lead to the first reported Rhmod phenotype in Argentina., [RefSeq, PubMed]; Rhnull phenotype in an Indian patient due to a novel c.1138 + 2 t > a mutation in the RHAG gene., [RefSeq, PubMed]; The Kg-antigen, RhAG with a Lys164Gln mutation, gives rise to haemolytic disease of the newborn., [RefSeq, PubMed]; The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R8T8;O43514;O43515;Q7L8L3;Q9H454", "ec_number_list": [], "go_molecular_function": "GO:0008519 ammonium channel activity;GO:0035379 carbon dioxide transmembrane transporter activity;GO:0030506 ankyrin binding;GO:0022840 leak channel activity;GO:0015200 methylammonium transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0170014 ankyrin-1 complex", "go_biological_process": "GO:0097272 ammonium homeostasis;GO:0055085 transmembrane transport;GO:0015670 carbon dioxide transport;GO:0015701 bicarbonate transport;GO:0035378 carbon dioxide transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q02094-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UU1-1", "uniprot_id": [ { "id": "PHLB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UU1", "type": "external" } ], "mass": 151162.0, "length": 1377, "protein_name": "Pleckstrin homology-like domain family B member 1", "gene_name": "PHLDB1", "organism": "Human", "refseq_name": "pleckstrin homology-like domain family B member 1 isoform a", "refseq_ac": [ { "id": "NP_001138230", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138230", "type": "external" } ], "gene_names_uniprotkb": "PHLDB1; DLNB07; KIAA0638; LL5A", "gene_names_refseq": "LL5A; LL5alpha; OI23; PHLDB1", "protein_names_uniprotkb": "Pleckstrin homology-like domain family B member 1; Protein LL5-alpha", "protein_names_refseq": "pleckstrin homology-like domain family B member 1 isoform a; protein LL5-alpha", "tax_id": 9606, "disease": "osteogenesis imperfecta (Disease Ontology:DOID:12347); osteogenesis imperfecta, type 23 (MONDO:MONDO:0957988)", "pathway": " (hsa:23187)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;11001876;11237011;14532993;17081983;18160138;18212344;18220336;18669648;19651622;19664994;19664995;20058876;20068231;20513769;21406692;22028470;23186163;24275569;25576301;25645385;27600516;27869121;29242379;29393594;29485866;29557506;29786170;30429286;31721021;31844290;32157095;32387766;32897882;32938616;32983136;33592498;33968037;34509645;34725712;35051231;35188604;35513511;35580925;36010968;36543534;37217939;38665916", "class_list": "", "function": "Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus., [RefSeq, PubMed]; Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes., [RefSeq, PubMed]; Signaling from laminin-integrin associations in epithelial cells attaches microtubule plus ends to the epithelial basal cell cortex via PHLDB1 and PHLDB2., [RefSeq, PubMed]; The rs6010620 (RTEL1), rs4977756 (CDKN2A/B), and rs498872 (PHLDB1) are associated with glioma risk in the Portuguese population. The GA genotype of the rs498872 (PHLDB1) was associated with an increased risk of gliomas (OR 2.92) and glioblastomas (OR 2.39). In addition, the genotype AA of the rs498872 (PHLDB1) was associated with poor overall survival of gliomas patients (AA vs. GA, p = 0.037)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 32, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "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": "B0YJ63;B0YJ64;O75133;Q4KMF8;Q8TEQ2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0045180 basal cortex", "go_biological_process": "GO:0071711 basement membrane organization", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q86UU1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96J92-1", "uniprot_id": [ { "id": "WNK4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96J92", "type": "external" } ], "mass": 134739.0, "length": 1243, "protein_name": "Serine/threonine-protein kinase WNK4", "gene_name": "WNK4", "organism": "Human", "refseq_name": "serine/threonine-protein kinase WNK4 isoform 1", "refseq_ac": [ { "id": "NP_115763", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115763", "type": "external" } ], "gene_names_uniprotkb": "WNK4; PRKWNK4", "gene_names_refseq": "PHA2B; PRKWNK4; WNK4", "protein_names_uniprotkb": "Serine/threonine-protein kinase WNK4; 2.7.11.1; Protein kinase lysine-deficient 4; Protein kinase with no lysine 4", "protein_names_refseq": "protein kinase lysine-deficient 4; protein kinase with no lysine 4; serine/threonine-protein kinase WNK4 isoform 1; serine/threonine-protein kinase WNK4", "tax_id": 9606, "disease": "Gitelman syndrome (Disease Ontology:DOID:0050450); hypertension (Disease Ontology:DOID:10763); transient cerebral ischemia (Disease Ontology:DOID:224); pseudohypoaldosteronism (Disease Ontology:DOID:4479); pseudohypoaldosteronism type 2B (MONDO:MONDO:0013777)", "pathway": " (hsa:65266); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 129, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11498583;11571656;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;14769928;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16669787;16813530;16832045;16849430;16850186;17344846;17381423;17448995;17699613;17721439;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19651622;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;22989884;23112050;23186163;2321095;23387299;23453970;23481700;23576762;23616951;23665031;23838290;24641320;2536303;26359375;26435498;26562072;26732173;27727489;27846572;27869121;28071645;28154142;28790369;29242379;29493099;29557506;29846116;30397120;30429286;31844290;32350084;32387766;32488085;32938616;33214551;33936100;34019948;35051231;37285722;37481568;38665916;38764295;40796245;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Downregulation of WNK4 expression facilitates the proliferation of gastric cancer cells via activation of the STAT3 signaling pathway., [RefSeq, PubMed]; General role for WNK4 in the regulation of electrolyte flux in diverse epithelia, [RefSeq, PubMed]; Identification of a novel KLHL3-interacting motif in the C-terminal region of WNK4., [RefSeq, PubMed]; KLHL3-dependent WNK4 degradation affected by potassium through the neddylation and autophagy pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase component of the WNK4-SPAK/OSR1 kinase cascade, which acts as a key regulator of ion transport in the distal nephron and blood pressure (By similarity). The WNK4-SPAK/OSR1 kinase cascade is composed of WNK4, which mediates phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK (PubMed:16832045). Following activation, OXSR1/OSR1 and STK39/SPAK catalyze phosphorylation of ion cotransporters, such as SLC12A1/NKCC2, SLC12A2/NKCC1, SLC12A3/NCC, SLC12A5/KCC2 or SLC12A6/KCC3, regulating their activity (PubMed:16832045, PubMed:22989884). Acts as a molecular switch that regulates the balance between renal salt reabsorption and K(+) secretion by modulating the activities of renal transporters and channels, including the Na-Cl cotransporter SLC12A3/NCC and the K(+) channel, KCNJ1/ROMK (By similarity). Regulates NaCl reabsorption in the distal nephron by activating the thiazide-sensitive Na-Cl cotransporter SLC12A3/NCC in distal convoluted tubule cells of kidney: activates SLC12A3/NCC in a OXSR1/OSR1- and STK39/SPAK-dependent process (By similarity). Also acts as a scaffold protein independently of its protein kinase activity: negatively regulates cell membrane localization of various transporters and channels (CFTR, KCNJ1/ROMK, SLC4A4, SLC26A9 and TRPV4) by clathrin-dependent endocytosis (By similarity). Also inhibits the activity of the epithelial Na(+) channel (ENaC) SCNN1A, SCNN1B, SCNN1D in a inase-independent mechanism (By similarity). May also phosphorylate NEDD4L (PubMed:20525693)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[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": 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": 6, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 25, "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": "B0LPI0;Q8N8X3;Q8N8Z2;Q96DT8;Q9BYS5", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0031404 chloride ion binding;GO:0008200 ion channel inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005923 bicellular tight junction;GO:0016020 membrane;GO:0044297 cell body", "go_biological_process": "GO:0030644 intracellular chloride ion homeostasis;GO:0003096 renal sodium ion transport;GO:0006468 protein phosphorylation;GO:0006954 inflammatory response;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q96J92-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGJ9-1", "uniprot_id": [ { "id": "O51T1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGJ9", "type": "external" } ], "mass": 36998.0, "length": 327, "protein_name": "Olfactory receptor 51T1", "gene_name": "OR51T1", "organism": "Human", "refseq_name": "olfactory receptor 51T1", "refseq_ac": [ { "id": "NP_001004759", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004759", "type": "external" } ], "gene_names_uniprotkb": "OR51T1", "gene_names_refseq": "OR11-26; OR51T1", "protein_names_uniprotkb": "Olfactory receptor 51T1; Olfactory receptor OR11-26", "protein_names_refseq": "olfactory receptor 51T1; olfactory receptor OR11-26", "tax_id": 9606, "disease": "", "pathway": " (hsa:401665); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "11237011;14983052;24800820;25892735;27515280;31974307;32066986;32357974;32938616;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": "Q6IFH9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NGJ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGV6-1", "uniprot_id": [ { "id": "OR5H6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGV6", "type": "external" } ], "mass": 36713.0, "length": 325, "protein_name": "Olfactory receptor 5H6", "gene_name": "OR5H6", "organism": "Human", "refseq_name": "olfactory receptor 5H6", "refseq_ac": [ { "id": "NP_001005479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005479", "type": "external" } ], "gene_names_uniprotkb": "OR5H6", "gene_names_refseq": "OR3-11; OR5H6", "protein_names_uniprotkb": "Olfactory receptor 5H6; Olfactory receptor OR3-11", "protein_names_refseq": "olfactory receptor 5H6; olfactory receptor OR3-11", "tax_id": 9606, "disease": "", "pathway": " (hsa:79295); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11237011;14983052;24800820;25892735;27515280;31974307;32066986;32488085;33141586", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6IF88", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NGV6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGW6-1", "uniprot_id": [ { "id": "OR6K6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGW6", "type": "external" } ], "mass": 38362.0, "length": 343, "protein_name": "Olfactory receptor 6K6", "gene_name": "OR6K6", "organism": "Human", "refseq_name": "olfactory receptor 6K6", "refseq_ac": [ { "id": "NP_001005184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005184", "type": "external" } ], "gene_names_uniprotkb": "OR6K6", "gene_names_refseq": "OR1-21; OR6K6", "protein_names_uniprotkb": "Olfactory receptor 6K6; Olfactory receptor OR1-21", "protein_names_refseq": "olfactory receptor 6K6; olfactory receptor OR1-21", "tax_id": 9606, "disease": "", "pathway": " (hsa:128371); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11237011;14983052;24800820;27515280;28904123;29557506;31974307;32066986;38253038", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 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": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B9EIM8;Q5VUU9;Q6IFR4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8NGW6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGL6-1", "uniprot_id": [ { "id": "O4A15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGL6", "type": "external" } ], "mass": 38828.0, "length": 344, "protein_name": "Olfactory receptor 4A15", "gene_name": "OR4A15", "organism": "Human", "refseq_name": "olfactory receptor 4A15", "refseq_ac": [ { "id": "NP_001005275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005275", "type": "external" } ], "gene_names_uniprotkb": "OR4A15", "gene_names_refseq": "OR11-118; OR4A15", "protein_names_uniprotkb": "Olfactory receptor 4A15; Olfactory receptor OR11-118", "protein_names_refseq": "olfactory receptor 4A15; olfactory receptor OR11-118", "tax_id": 9606, "disease": "", "pathway": " (hsa:81328); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986;33392160;35051231;36010968", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 24, "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": "Q6IFL4;Q96R65", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NGL6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGQ1-1", "uniprot_id": [ { "id": "OR9G4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGQ1", "type": "external" } ], "mass": 36344.0, "length": 327, "protein_name": "Olfactory receptor 9G4", "gene_name": "OR9G4", "organism": "Human", "refseq_name": "olfactory receptor 9G4 isoform 1", "refseq_ac": [ { "id": "NP_001005284", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005284", "type": "external" } ], "gene_names_uniprotkb": "OR9G4", "gene_names_refseq": "OR11-216; OR9G4", "protein_names_uniprotkb": "Olfactory receptor 9G4; Olfactory receptor OR11-216", "protein_names_refseq": "olfactory receptor 9G4 isoform 1; olfactory receptor 9G4; olfactory receptor OR11-216", "tax_id": 9606, "disease": "", "pathway": " (hsa:283189); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11237011;14983052;24800820;27515280;29557506;31974307;32066986;35051231;35580925", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IF62;Q96RA9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NGQ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04181-1", "uniprot_id": [ { "id": "OAT_HUMAN", "url": "https://www.uniprot.org/uniprot/P04181", "type": "external" } ], "mass": 48535.0, "length": 439, "protein_name": "Ornithine aminotransferase, mitochondrial", "gene_name": "OAT", "organism": "Human", "refseq_name": "ornithine aminotransferase, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_000265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000265", "type": "external" } ], "gene_names_uniprotkb": "OAT", "gene_names_refseq": "GACR; HOGA; OATASE; OAT; OKT", "protein_names_uniprotkb": "Ornithine aminotransferase, mitochondrial; 2.6.1.13; Ornithine delta-aminotransferase; Ornithine--oxo-acid aminotransferase", "protein_names_refseq": "gyrate atrophy; ornithine aminotransferase, mitochondrial isoform 1 precursor; ornithine aminotransferase, mitochondrial; ornithine delta-aminotransferase; ornithine-oxo-acid aminotransferase; testicular tissue protein Li 130", "tax_id": 9606, "disease": "gyrate atrophy (Disease Ontology:DOID:1415); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:4942); (R-HSA-8964539)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "11903050;12054821;15364907;1612597;16267323;16730026;1682785;1737786;18005987;19338303;19648921;20068231;20657015;23024808;23076989;23301498;2373169;2507357;25576301;25865492;26902786;26992070;2722838;27600516;2793865;29557506;30192525;30429286;30833945;31422819;31530632;3170546;31844290;32119511;32157095;32350084;32488085;32870666;32897882;32938616;32983136;33592498;3375240;33968037;33981976;34087483;34171305;34357683;3456579;34725712;34932366;35051231;35580925;36284347;36991126;37217939;3754226;3816496;38413821;38665916;39302247;4052435;429360;6819292;7668253;7883047;7887415;8294935;9309222;9514741;9878407", "class_list": "", "function": "Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate., [UniProtKB, PubMed, PubMed]; Ornithine aminotransferase supports polyamine synthesis in pancreatic cancer., [RefSeq, PubMed]; Role of lung ornithine aminotransferase in idiopathic pulmonary fibrosis: regulation of mitochondrial ROS generation and TGF-beta1 activity., [RefSeq, PubMed]; This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "D3DRF0;Q16068;Q16069;Q68CS0;Q6IAV9;Q9UD03", "ec_number_list": [ { "id": "2.6.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.13", "type": "external" } ], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0042802 identical protein binding;GO:0004587 ornithine aminotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0007601 visual perception;GO:0055129 L-proline biosynthetic process;GO:0010121 L-arginine catabolic process to proline via ornithine;GO:0019544 L-arginine catabolic process to L-glutamate", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "P04181-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C617-1", "uniprot_id": [ { "id": "O5AL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C617", "type": "external" } ], "mass": 36929.0, "length": 329, "protein_name": "Olfactory receptor 5AL1", "gene_name": "OR5AL1", "organism": "Human", "refseq_name": "olfactory receptor 5AL1", "refseq_ac": [ { "id": "NP_001335159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335159", "type": "external" } ], "gene_names_uniprotkb": "OR5AL1; OR5AL1P", "gene_names_refseq": "OR5AL1P; OR5AL1", "protein_names_uniprotkb": "Olfactory receptor 5AL1; Olfactory receptor OR11-184", "protein_names_refseq": "olfactory receptor 5AL1; olfactory receptor OR11-184; olfactory receptor, family 5, subfamily AL, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:79482); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "10460249;12730696;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;29557506;31040214;31974307;32066986;34105348;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB, PubMed]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P0C617-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C623-1", "uniprot_id": [ { "id": "OR4Q2_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C623", "type": "external" } ], "mass": 35588.0, "length": 314, "protein_name": "Olfactory receptor 4Q2", "gene_name": "OR4Q2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR4Q2; OR4Q2P", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 4Q2; olfactory receptor OR14-21", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:390432); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "12730696;14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A087X1L2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P0C623-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C626-1", "uniprot_id": [ { "id": "OR5G3_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C626", "type": "external" } ], "mass": 35647.0, "length": 314, "protein_name": "Olfactory receptor 5G3", "gene_name": "OR5G3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR5G3; OR5G3P; OR5G6P", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 5G3; Olfactory receptor 5G6; Olfactory receptor OR11-213", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9752946)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "12730696;14983052;24800820;27515280;29769354;31974307;32066986;32488085;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P0C626-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C628-1", "uniprot_id": [ { "id": "O5AC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C628", "type": "external" } ], "mass": 34762.0, "length": 307, "protein_name": "Olfactory receptor 5AC1", "gene_name": "OR5AC1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR5AC1; OR5AC1P", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 5AC1; Olfactory receptor OR3-2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9752946)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "14983052;17973576;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0C628-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DN80-1", "uniprot_id": [ { "id": "OR5H8_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DN80", "type": "external" } ], "mass": 34772.0, "length": 308, "protein_name": "Olfactory receptor 5H8", "gene_name": "OR5H8", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR5H8; OR5H8P", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 5H8; Olfactory receptor 5H8 pseudogene; Olfactory receptor OR3-7", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "14983052;22908908", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0DN80-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23515-1", "uniprot_id": [ { "id": "OMGP_HUMAN", "url": "https://www.uniprot.org/uniprot/P23515", "type": "external" } ], "mass": 49608.0, "length": 440, "protein_name": "Oligodendrocyte-myelin glycoprotein", "gene_name": "OMG", "organism": "Human", "refseq_name": "oligodendrocyte-myelin glycoprotein precursor", "refseq_ac": [ { "id": "NP_002535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002535", "type": "external" } ], "gene_names_uniprotkb": "OMG; OMGP", "gene_names_refseq": "OMGP; OMG", "protein_names_uniprotkb": "Oligodendrocyte-myelin glycoprotein", "protein_names_refseq": "oligodendrocyte-myelin glycoprotein precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:4974); (R-HSA-193634)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11201742;12426574;12692556;14966521;15699121;16150497;1688857;1899288;19034380;19052207;21534343;2277079;26811146;28657654;29557506;31530632;31844290;3283151;33968037;35051231;37074911", "class_list": "", "function": "Cell adhesion molecule contributing to the interactive process required for myelination in the central nervous system., [UniProtKB]; Data show that oligodendrocyte-myelin glycoprotein is downregulated in schizophrenia anterior temporal lobe revealed by shotgun proteome analysis., [RefSeq, PubMed]; The results do not support a relationship between the OMGP gene and the learning disability phenotype observed in neurofibromatosis type 1., [RefSeq, PubMed]", "predicted_glycosites": 10, "predicted_n_glycosites": 9, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "E1P659", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0031102 neuron projection regeneration", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P23515-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12889-1", "uniprot_id": [ { "id": "OVGP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12889", "type": "external" } ], "mass": 75421.0, "length": 678, "protein_name": "Oviduct-specific glycoprotein", "gene_name": "OVGP1", "organism": "Human", "refseq_name": "oviduct-specific glycoprotein precursor", "refseq_ac": [ { "id": "NP_002548", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002548", "type": "external" } ], "gene_names_uniprotkb": "OVGP1; MUC9; OGP", "gene_names_refseq": "CHIT5; EGP; MUC9; OGP; OVGP1", "protein_names_uniprotkb": "Oviduct-specific glycoprotein; Estrogen-dependent oviduct protein; Mucin-9; Oviductal glycoprotein; Oviductin", "protein_names_refseq": "estrogen-dependent oviduct protein; mucin 9; oviduct glycoprotein; oviduct-specific glycoprotein precursor; oviduct-specific glycoprotein; oviductal glycoprotein 1, 120kDa; oviductin", "tax_id": 9606, "disease": "", "pathway": " (hsa:5016); (R-HSA-2534343)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "11080501;11818519;12503889;16959974;20130498;20364096;20800603;22028245;28411811;28834231;28904123;29557506;29968069;31254143;35051231;7819450;8195297", "class_list": "glycogene;glycosylhydrolase", "function": "Binds to oocyte zona pellucida in vivo. May play a role in the fertilization process and/or early embryonic development., [UniProtKB]; Cloning and characterization of the promoter and gene expression regulation in the oviduct (human oviduct-specific glycoprotein, HuOPG), [RefSeq, PubMed]; Decreased gene expression of MUC9 was found from colonic biopsies in patients with active and remission ulcerative colitis. Erratum:[Inflamm Bowel Dis. 2015 Nov;21(11):2735. Mendivil-Rangel, Edgar J [corrected to Mendivil, Edgar J]], [RefSeq, PubMed]; OVGP1 is specifically induced in the luminal epithelium at the time of embryo implantation where it regulates receptivity-related genes and aids in trophoblast adhesion., [RefSeq, PubMed]; OVGP1 seems to detect a different spectrum of ovarian epithelial cancers than other markers and thus should be a useful adjunct for more accurate detection, particularly of early serous ovarian cancers and mucinous carcinomas., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The present study revealed that one of the major rHuOVGP1-enhanced pY proteins could be AKAP3 of the FS and that rHuOVGP1 is capable of binding to human ZP and its presence in the medium results in an increase in sperm-zona binding. Supplement of rHuOVGP1 in in vitro fertilization media could be beneficial for enhancement of the fertilizing ability of human sperm., [RefSeq, PubMed]; The production and function of oviductin at different stages of human reproductive cycle is not well known. Its highest expression at the time of ovulation is consistent with a supportive role in fertilization and early embryo development., [RefSeq, PubMed]; This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 5, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 911, "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": "A0AV19;B9EGE1;Q15841", "ec_number_list": [], "go_molecular_function": "GO:0004568 chitinase activity;GO:0008061 chitin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0030133 transport vesicle;GO:0035805 egg coat;GO:0098595 perivitelline space", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0007338 single fertilization;GO:0007565 female pregnancy;GO:0006032 chitin catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q12889-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100100011000.011.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13606-1", "uniprot_id": [ { "id": "OR5I1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13606", "type": "external" } ], "mass": 36049.0, "length": 314, "protein_name": "Olfactory receptor 5I1", "gene_name": "OR5I1", "organism": "Human", "refseq_name": "olfactory receptor 5I1", "refseq_ac": [ { "id": "NP_006628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006628", "type": "external" } ], "gene_names_uniprotkb": "OR5I1; OLF1", "gene_names_refseq": "HSOlf1; OLF1; OR5I1", "protein_names_uniprotkb": "Olfactory receptor 5I1; Olfactory receptor OR11-159; Olfactory receptor-like protein OLF1", "protein_names_refseq": "olfactory receptor 5I1; olfactory receptor OR11-159; olfactory receptor-like protein OLF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10798); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231;9017400", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IEU4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q13606-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14982-1", "uniprot_id": [ { "id": "OPCM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14982", "type": "external" } ], "mass": 38008.0, "length": 345, "protein_name": "Opioid-binding protein/cell adhesion molecule", "gene_name": "OPCML", "organism": "Human", "refseq_name": "opioid-binding protein/cell adhesion molecule isoform b precursor", "refseq_ac": [ { "id": "NP_001012393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012393", "type": "external" } ], "gene_names_uniprotkb": "OPCML; IGLON1; OBCAM", "gene_names_refseq": "IGLON1; OBCAM; OPCML; OPCM", "protein_names_uniprotkb": "Opioid-binding protein/cell adhesion molecule; IgLON family member 1; OBCAM; OPCML; Opioid-binding cell adhesion molecule", "protein_names_refseq": "IgLON family member 1; opioid binding protein/cell adhesion molecule-like preprotein; opioid-binding protein/cell adhesion molecule isoform b precursor", "tax_id": 9606, "disease": "ovarian cancer (Disease Ontology:DOID:2394)", "pathway": " (hsa:4978); (R-HSA-163125)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "11072085;12819783;23481700;2443973;29557506;31092671;32359894;32595215;33108608;3422494;34697068;35051231;35478117;7721093", "class_list": "", "function": "Binds opioids in the presence of acidic lipids; probably involved in cell contact., [UniProtKB]; Combined OPCML and AXL Expression as a Prognostic Marker and OPCML Enhances AXL Inhibitor in Cholangiocarcinoma., [RefSeq, PubMed]; Emerging roles for the GPI-anchored tumor suppressor OPCML in cancers. Review article, [RefSeq, PubMed]; Expression and promoter methylation status of OPCML and its functions in the inhibition of cell proliferation, migration, and invasion in breast cancer., [RefSeq, PubMed]; LINC00619 restricts gastric cancer progression by preventing microRNA-224-5p-mediated inhibition of OPCML., [RefSeq, PubMed]; OPCML Exerts Antitumor Effects in Cholangiocarcinoma via AXL/STAT3 Inactivation and Rho GTPase Down-regulation., [RefSeq, PubMed]; This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily of proteins. The encoded preprotein is proteolytically processed to generate the mature protein. This protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-cell adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2CZX2;B7ZLQ1;Q17RN7;Q7Z3W6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0098552 side of membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0051963 regulation of synapse assembly;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;GO:0008038 neuron recognition", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q14982-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JQS5-1", "uniprot_id": [ { "id": "OR2BB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JQS5", "type": "external" } ], "mass": 35342.0, "length": 317, "protein_name": "Olfactory receptor 2B11", "gene_name": "OR2B11", "organism": "Human", "refseq_name": "olfactory receptor 2B11", "refseq_ac": [ { "id": "NP_001004492", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004492", "type": "external" } ], "gene_names_uniprotkb": "OR2B11", "gene_names_refseq": "OR2B11", "protein_names_uniprotkb": "Olfactory receptor 2B11", "protein_names_refseq": "novel 7 transmembrane receptor (rhodopsin family) protein; olfactory receptor 2B11", "tax_id": 9606, "disease": "", "pathway": " (hsa:127623); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 23, "publication_id_list": "10.1101/2023.09.13.557529;10460249;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31530632;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 20, "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": "B2RP03", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q5JQS5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SRE5-1", "uniprot_id": [ { "id": "NU188_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SRE5", "type": "external" } ], "mass": 196043.0, "length": 1749, "protein_name": "Nucleoporin NUP188", "gene_name": "NUP188", "organism": "Human", "refseq_name": "nucleoporin NUP188", "refseq_ac": [ { "id": "NP_056169", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056169", "type": "external" } ], "gene_names_uniprotkb": "NUP188; KIAA0169", "gene_names_refseq": "KIAA0169; NUP188; SANDSTEF; hNup188", "protein_names_uniprotkb": "Nucleoporin NUP188; hNup188", "protein_names_refseq": "nucleoporin 188kDa; nucleoporin NUP188 homolog; nucleoporin NUP188", "tax_id": 9606, "disease": "Sandestig-Stefanova syndrome (Disease Ontology:DOID:0081272); respiratory failure (Disease Ontology:DOID:11162)", "pathway": " (hsa:23511); (R-HSA-1169408); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-6784531); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9705671)", "pathway_count": 32, "publication_count": 489, "publication_id_list": 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"class_list": "", "function": "Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope (Probable). Required for proper protein transport into the nucleus (PubMed:32275884)., [UniProtKB, PubMed]; Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication., [RefSeq, PubMed]; Results identified Nup188 as a novel TDP-43 target which controls the mRNA splicing of Nup188. Publication Status: Online-Only, [RefSeq, PubMed]; Results implicate bi-allelic loss-of-function NUP188 variants in a recessive syndrome characterized by a distinct neurologic, ophthalmologic, and facial phenotype, [RefSeq, PubMed]; The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]., [RefSeq]; We show that knockdown of Nup188 or its binding partner Nup93 leads to a loss of cilia during embryonic development while leaving NPC function largely intact. Many data, including the localization of endogenous Nup188/93 at cilia bases, support their direct role at cilia. Super-resolution imaging of Nup188 shows two barrel-like structures, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "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": "Q14675;Q2TA87;Q7Z3K8;Q8IWF1", "ec_number_list": [], "go_molecular_function": "GO:0017056 structural constituent of nuclear pore", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005829 cytosol;GO:0016020 membrane;GO:0044611 nuclear pore inner ring", "go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0051028 mRNA transport;GO:0006405 RNA export from nucleus;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 49.3, "record_id": "Q5SRE5-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T2D3-1", "uniprot_id": [ { "id": "OTUD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T2D3", "type": "external" } ], "mass": 45124.0, "length": 398, "protein_name": "OTU domain-containing protein 3", "gene_name": "OTUD3", "organism": "Human", "refseq_name": "OTU domain-containing protein 3", "refseq_ac": [ { "id": "NP_056022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056022", "type": "external" } ], "gene_names_uniprotkb": "OTUD3; KIAA0459", "gene_names_refseq": "DUBA4; OTUD3", "protein_names_uniprotkb": "OTU domain-containing protein 3; 3.4.19.12", "protein_names_refseq": "OTU domain containing 3; OTU domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23252); (R-HSA-5689896); (R-HSA-8948751)", "pathway_count": 3, "publication_count": 42, "publication_id_list": "10385526;11035045;11463333;12297295;14661020;15258597;15334086;17218260;18669648;19345329;19383985;19464428;19473982;19729658;19818707;19996094;20553488;21532586;22124327;22427670;23186163;23419514;23511034;23827681;24270891;24367090;24610782;25547115;25904330;26183061;26280536;30315122;31844290;32011234;32157095;32502341;33298915;33912179;33968037;35675826;36173586;36531510", "class_list": "", "function": "Deubiquitinating enzyme that hydrolyzes 'Lys-6'- and 'Lys-11'-linked polyubiquitin. Also hydrolyzes heterotypic (mixed and branched) and homotypic chains (PubMed:23827681, PubMed:32011234, PubMed:35675826). Important regulator of energy metabolism (PubMed:35675826). Glucose and fatty acids trigger its nuclear translocation by CBP-dependent acetylation (PubMed:35675826). In the nucleus, deubiquitinates and stabilizes the nuclear receptor PPARD regulating the expression of various genes involved in glucose and lipid metabolism and oxidative phosphorylation (PubMed:35675826). Also acts as a negative regulator of the ribosome quality control (RQC) by mediating deubiquitination of 40S ribosomal proteins RPS10/eS10 and RPS20/uS10, thereby antagonizing ZNF598-mediated 40S ubiquitination (PubMed:32011234)., [UniProtKB, PubMed, PubMed, PubMed]; Prevalence and clinical characteristics of T2DM patients with OTUD3 gene rs78466831 SNP at a single academic center in China. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing of LncRNA SNHG6 protects trophoblast cells through regulating miR-101-3p/OTUD3 axis in unexplained recurrent spontaneous abortion., [RefSeq, PubMed]; Single-nucleotide polymorphism in OTUD3 gene is associated with ulcerative colitis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O75047", "ec_number_list": [ { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "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": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" } ], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0050821 protein stabilization;GO:0031669 cellular response to nutrient levels;GO:0051898 negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q5T2D3-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6GTS8-1", "uniprot_id": [ { "id": "P20D1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6GTS8", "type": "external" } ], "mass": 55741.0, "length": 502, "protein_name": "N-fatty-acyl-amino acid synthase/hydrolase PM20D1", "gene_name": "PM20D1", "organism": "Human", "refseq_name": "N-fatty-acyl-amino acid synthase/hydrolase PM20D1 precursor", "refseq_ac": [ { "id": "NP_689704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689704", "type": "external" } ], "gene_names_uniprotkb": "PM20D1", "gene_names_refseq": "Cps1; PM20D1", "protein_names_uniprotkb": "N-fatty-acyl-amino acid synthase/hydrolase PM20D1; 3.5.1.114; 3.5.1.14; Peptidase M20 domain-containing protein 1", "protein_names_refseq": "N-fatty-acyl-amino acid synthase/hydrolase PM20D1 precursor; N-fatty-acyl-amino acid synthase/hydrolase PM20D1; peptidase M20 domain-containing protein 1; probable carboxypeptidase PM20D1", "tax_id": 9606, "disease": "", "pathway": " (hsa:148811); (R-HSA-9673163)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "10.1101/2023.09.13.557529;23090970;27374330;29557506;29736028;32014019;32271712;32357974;32983136;33298155;33968037;34757919;35544855", "class_list": "", "function": "Clinical Significance of Peptidase M20 Domain Containing 1 Ii Patients with Carotid Atherosclerosis.', trans 'Significado Clinico do Dominio da Peptidase M20 Contendo 1 em Pacientes com Aterosclerose Carotidea., [RefSeq, PubMed]; Comprehensive analysis of PM20D1 QTL in Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Cooperative enzymatic control of N-acyl amino acids by PM20D1 and FAAH. Publication Status: Online-Only, [RefSeq, PubMed]; Longitudinal data in peripheral blood confirm that PM20D1 is a quantitative trait locus (QTL) for Alzheimer's disease and implicate its dynamic role in disease progression. Publication Status: Online-Only, [RefSeq, PubMed]; PM20D1 is a circulating biomarker closely associated with obesity, insulin resistance and metabolic syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Secreted enzyme that regulates the endogenous N-fatty acyl amino acid (NAAs) tissue and circulating levels by functioning as a bidirectional NAA synthase/hydrolase (PubMed:27374330). It condenses free fatty acids and free amino acids to generate NAAs and bidirectionally catalyzes the reverse hydrolysis reaction (PubMed:27374330). Some of these NAAs stimulate oxidative metabolism via mitochondrial uncoupling, increasing energy expenditure in a UPC1-independent manner. Thereby, this secreted protein may indirectly regulate whole body energy expenditure. PM20D1 circulates in tight association with both low- and high-density (LDL and HDL,respectively) lipoprotein particles (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6P4E3;Q96DM4", "ec_number_list": [ { "id": "3.5.1.99", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.99", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.14", "type": "external" }, { "id": "3.5.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.114", "type": "external" } ], "go_molecular_function": "GO:0004046 aminoacylase activity;GO:0046872 metal ion binding;GO:0008233 peptidase activity;GO:0016829 lyase activity;GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides", "go_cellular_component": "GO:0005576 extracellular region;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0006629 lipid metabolic process;GO:0006631 fatty acid metabolic process;GO:0097009 energy homeostasis;GO:0006520 amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6GTS8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IE37-1", "uniprot_id": [ { "id": "OVOS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IE37", "type": "external" } ], "mass": 134499.0, "length": 1185, "protein_name": "Ovostatin homolog 1", "gene_name": "OVOS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OVOS1", "gene_names_refseq": "", "protein_names_uniprotkb": "Ovostatin homolog 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "15060002;31324691;32983136;33392160;35051231;37217939", "class_list": "", "function": "Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism., [UniProtKB]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6IE37-1", "record_type": "protein", "filter_code": "0000000.0000100.010000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IF36-1", "uniprot_id": [ { "id": "O8G2P_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IF36", "type": "external" } ], "mass": 33950.0, "length": 304, "protein_name": "Olfactory receptor 8G2", "gene_name": "OR8G2P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR8G2P; OR8G2; OR8G4", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 8G2; Olfactory receptor 8G4; Olfactory receptor OR11-292; Olfactory receptor TPCR120", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9752946)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;9119360", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q15614;Q6IF38", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6IF36-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IF82-1", "uniprot_id": [ { "id": "O4A47_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IF82", "type": "external" } ], "mass": 34760.0, "length": 309, "protein_name": "Olfactory receptor 4A47", "gene_name": "OR4A47", "organism": "Human", "refseq_name": "olfactory receptor 4A47", "refseq_ac": [ { "id": "NP_001005512", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005512", "type": "external" } ], "gene_names_uniprotkb": "OR4A47", "gene_names_refseq": "OR11-113; OR4A47", "protein_names_uniprotkb": "Olfactory receptor 4A47; Olfactory receptor OR11-113", "protein_names_refseq": "olfactory receptor 4A47; olfactory receptor OR11-113", "tax_id": 9606, "disease": "", "pathway": " (hsa:403253); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;29769354;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6IF82-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IFG1-1", "uniprot_id": [ { "id": "O52E8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IFG1", "type": "external" } ], "mass": 35498.0, "length": 313, "protein_name": "Olfactory receptor 52E8", "gene_name": "OR52E8", "organism": "Human", "refseq_name": "olfactory receptor 52E8", "refseq_ac": [ { "id": "NP_001005168", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005168", "type": "external" } ], "gene_names_uniprotkb": "OR52E8", "gene_names_refseq": "OR11-54; OR52E8", "protein_names_uniprotkb": "Olfactory receptor 52E8; Olfactory receptor OR11-54", "protein_names_refseq": "olfactory receptor 52E8; olfactory receptor OR11-54; olfactory receptor, family 52, subfamily E, member 8 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:390079); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EH38", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6IFG1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IFH4-1", "uniprot_id": [ { "id": "OR6B2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IFH4", "type": "external" } ], "mass": 35029.0, "length": 312, "protein_name": "Olfactory receptor 6B2", "gene_name": "OR6B2", "organism": "Human", "refseq_name": "olfactory receptor 6B2", "refseq_ac": [ { "id": "NP_001005853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005853", "type": "external" } ], "gene_names_uniprotkb": "OR6B2; OR6B2P", "gene_names_refseq": "OR2-1; OR6B2P; OR6B2", "protein_names_uniprotkb": "Olfactory receptor 6B2; Olfactory receptor OR2-1", "protein_names_refseq": "olfactory receptor 6B2; olfactory receptor OR2-1; olfactory receptor, family 6, subfamily B, member 2 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:389090); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35494241", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RPR3;Q8NGW0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6IFH4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IFN5-1", "uniprot_id": [ { "id": "O7E24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IFN5", "type": "external" } ], "mass": 38279.0, "length": 339, "protein_name": "Olfactory receptor 7E24", "gene_name": "OR7E24", "organism": "Human", "refseq_name": "olfactory receptor 7E24 isoform 1", "refseq_ac": [ { "id": "NP_001073404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073404", "type": "external" } ], "gene_names_uniprotkb": "OR7E24; OR7E24P", "gene_names_refseq": "HSHT2; OR19-8; OR7E24P; OR7E24Q; OR7E24", "protein_names_uniprotkb": "Olfactory receptor 7E24; Olfactory receptor OR19-14", "protein_names_refseq": "olfactory receptor 7E24 isoform 1; olfactory receptor 7E24; olfactory receptor OR19-14", "tax_id": 9606, "disease": "", "pathway": " (hsa:26648); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986;33936100;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EJD9;Q9UPJ1", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6IFN5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6N063-1", "uniprot_id": [ { "id": "OGFD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6N063", "type": "external" } ], "mass": 38996.0, "length": 350, "protein_name": "2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2", "gene_name": "OGFOD2", "organism": "Human", "refseq_name": "2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001291762", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291762", "type": "external" } ], "gene_names_uniprotkb": "OGFOD2", "gene_names_refseq": "OGFOD2", "protein_names_uniprotkb": "2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2; 1.14.11.-", "protein_names_refseq": "2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 isoform 1; 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79676)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;23481700;25418920;25576301;26154972;26992070;27846572;27920218;28063628;28649982;28832583;28904123;29242379;29557506;29632046;29632711;30429286;30779550;31154438;31844290;31848261;31998317;32157095;32161166;32265295;32387766;32488085;33298915;33912179;33936100;34171305;34561969;35051231;35580925;36010968;37217939;37938771;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KT24;Q4KN13;Q6N023;Q9H8K6", "ec_number_list": [], "go_molecular_function": "GO:0005506 iron ion binding;GO:0031418 L-ascorbic acid binding;GO:0051213 dioxygenase activity;GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016604 nuclear body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q6N063-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L8S5-1", "uniprot_id": [ { "id": "OTU6A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L8S5", "type": "external" } ], "mass": 33300.0, "length": 288, "protein_name": "OTU domain-containing protein 6A", "gene_name": "OTUD6A", "organism": "Human", "refseq_name": "OTU domain-containing protein 6A", "refseq_ac": [ { "id": "NP_997203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997203", "type": "external" } ], "gene_names_uniprotkb": "OTUD6A; DUBA2", "gene_names_refseq": "DUBA2; HSHIN6; OTUD6A", "protein_names_uniprotkb": "OTU domain-containing protein 6A; 3.4.19.12; DUBA-2", "protein_names_refseq": "HIN-6 protease; OTU domain-containing protein 6A", "tax_id": 9606, "disease": "", "pathway": " (hsa:139562)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "18452278;23827681;30379171;33070427;33669244;35051231;35217790;35768646;36082810;38105755;38342418;38594215", "class_list": "", "function": "Deubiquitinase OTUD6A promotes breast cancer progression by increasing TopBP1 stability and rendering tumor cells resistant to DNA-damaging therapy., [RefSeq, PubMed]; Deubiquitinase OTUD6A promotes proliferation of cancer cells via regulating Drp1 stability and mitochondrial fission., [RefSeq, PubMed]; Deubiquitinase OTUD6a drives cardiac inflammation and hypertrophy by deubiquitination of STING., [RefSeq, PubMed]; Deubiquitinating enzyme that hydrolyzes 'Lys-27'-, 'Lys-29'- and 'Lys-33'-linked polyubiquitin chains. Also able to hydrolyze 'Lys-11'-linked ubiquitin chains., [UniProtKB, PubMed]; Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA2 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]., [RefSeq]; OTUD6A Is an Aurora Kinase A-Specific Deubiquitinase. Publication Status: Online-Only, [RefSeq, PubMed]; OTUD6A in tubular epithelial cells mediates angiotensin II-induced kidney injury by targeting STAT3., [RefSeq, PubMed]; OTUD6A orchestrates complex modulation of TEAD4-mediated transcriptional programs., [RefSeq, PubMed]; Ovarian tumor deubiquitinase 6A regulates cell proliferation via deubiquitination of nucleolin and caspase7., [RefSeq, PubMed]; Prostate-specific oncogene OTUD6A promotes prostatic tumorigenesis via deubiquitinating and stabilizing c-Myc. Erratum:[Cell Death Differ. 2023 Jan;30(1):224-225. doi: 10.1038/s41418-022-00978-1. PMID: 35440730], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RPB7", "ec_number_list": [], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "", "go_biological_process": "GO:0006508 proteolysis;GO:0035523 protein K29-linked deubiquitination;GO:1990167 protein K27-linked deubiquitination;GO:1990168 protein K33-linked deubiquitination;GO:0035871 protein K11-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q7L8S5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTM1-1", "uniprot_id": [ { "id": "OTOP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTM1", "type": "external" } ], "mass": 67353.0, "length": 612, "protein_name": "Proton channel OTOP1", "gene_name": "OTOP1", "organism": "Human", "refseq_name": "proton channel OTOP1", "refseq_ac": [ { "id": "NP_819056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_819056", "type": "external" } ], "gene_names_uniprotkb": "OTOP1", "gene_names_refseq": "OTOP1", "protein_names_uniprotkb": "Proton channel OTOP1; Otopetrin-1; hOtop1", "protein_names_refseq": "proton channel OTOP1", "tax_id": 9606, "disease": "", "pathway": " (hsa:133060); (R-HSA-9729555)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "12651873;27869121;29371428;35051231;36010968;36266567;37798269", "class_list": "", "function": "Proton-selective ion channel (PubMed:29371428, PubMed:36266567). Biphasically modulated by acid and alkali, mediating proton influx and efflux in response to extracellular acid and base stimulation, respectively. Sour taste receptor, which carries inward currents in response to extracellular acidification (By similarity). Sensor for ammonium chloride (NH(4)Cl) in taste receptor cells (PubMed:37798269). NH(4)Cl acts by increasing the intracellular pH, thereby generating a driving force for proton entry through OTOP1 channel (PubMed:37798269). Might also participate in alkaline sensation. Plays a role in the regulation of Ca(2+) flux in response to purigenic (ATP, ADP and UDP) stimuli, leading to increase in cytosolic Ca(2+) due to influx of extracellular calcium. May play this role by inhibiting P2Y purinoceptor-mediated Ca(2+) release in a Ca(2+)-dependent manner and promote an influx of Ca(2+) in response to ATP. Through this mechanism and possibly others, plays a role in the formation and function of calcium carbonate-based structures in the vestibular system of the inner ear, called otoconia, that sense gravity and linear acceleration. In obesity, may attenuate adipose tissue inflammation, through the negative regulation of IFNG signaling, hence may play an adaptive role in the maintainance of metabolic homeostasis. Following alkali activation, may also be permeable Na(+), K(+), Cs(+) and Li(+) (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; The roles of two extracellular loops in proton sensing and permeation in human Otop1 proton channel. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transmembrane protein which belongs to the otopetrin domain protein family and is required for the formation of otoconia and otoliths, calcium carbonate biominerals within the inner ear of mammals that are required for the detection of linear acceleration and gravity. This gene modulates purinergic control of intracellular calcium in vestibular supporting cells. Naturally occurring mutations in the orthologous mouse gene are associated with nonsyndromic otoconia agenesis and a consequent balance defect. The orthologous mouse gene is also induced in white adipose tissue during obesity. The encoded protein is a component of a counterinflammatory pathway that attenuates obesity-induced adipose tissue inflammation and plays an adaptive role in maintaining metabolic homeostasis in obesity. [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": 1, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L476", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0015252 proton channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005902 microvillus", "go_biological_process": "GO:0032869 cellular response to insulin stimulus;GO:0060336 negative regulation of type II interferon-mediated signaling pathway;GO:0032475 otolith formation;GO:1902600 proton transmembrane transport;GO:0045299 otolith mineralization", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q7RTM1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTS6-1", "uniprot_id": [ { "id": "OTOP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTS6", "type": "external" } ], "mass": 62236.0, "length": 562, "protein_name": "Proton channel OTOP2", "gene_name": "OTOP2", "organism": "Human", "refseq_name": "proton channel OTOP2", "refseq_ac": [ { "id": "NP_835454", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835454", "type": "external" } ], "gene_names_uniprotkb": "OTOP2", "gene_names_refseq": "OTOP2", "protein_names_uniprotkb": "Proton channel OTOP2; Otopetrin-2", "protein_names_refseq": "proton channel OTOP2", "tax_id": 9606, "disease": "", "pathway": " (hsa:92736)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12651873;16959974;18160138;29557506;30652071;35051231;35580925", "class_list": "", "function": "Proton-selective ion channel open at neutral pH. Active at neutral and alkaline extracellular pH, likely participates in some alkali-related physiological activities., [UniProtKB, UniProtKB]; The OTOP2 is down-regulated in cancerous tissues and that elevated OTOP2 effectively suppresses tumor proliferation in vitro. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0015252 proton channel activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q7RTS6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UW2-1", "uniprot_id": [ { "id": "OSTB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UW2", "type": "external" } ], "mass": 14346.0, "length": 128, "protein_name": "Organic solute transporter subunit beta", "gene_name": "SLC51B", "organism": "Human", "refseq_name": "organic solute transporter subunit beta", "refseq_ac": [ { "id": "NP_849190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_849190", "type": "external" } ], "gene_names_uniprotkb": "SLC51B; OSTB", "gene_names_refseq": "OSTBETA; OSTB; PBAM2; SLC51A1BP; SLC51B", "protein_names_uniprotkb": "Organic solute transporter subunit beta; OST-beta; Solute carrier family 51 subunit beta", "protein_names_refseq": "OST-beta; SLC51A1 binding protein; organic solute transporter beta subunit; organic solute transporter subunit beta; solute carrier family 51 beta subunit; solute carrier family 51 subunit beta", "tax_id": 9606, "disease": "bile acid malabsorption, primary, 2 (MONDO:MONDO:0859180)", "pathway": " (hsa:123264); (R-HSA-159418)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10334992;10334993;10358072;10601278;10884298;10987286;11159893;11387316;11870371;11980911;12220224;12393883;12404239;12404240;12486725;12663868;12704183;12719432;12815072;13416382;14699511;16251721;16269519;16317684;16541101;16908160;17650074;2037576;23018617;23337244;24703425;26992070;27351185;28898457;32005758;37137894;41606314;41606328;7077161;7557095;7588781;8034703;8132774", "class_list": "", "function": "Dileucine motif in the extracellular N-terminal region is essential for OSTB plasma membrane targeting. Publication Status: Online-Only, [RefSeq, PubMed]; Essential component of the OST-alpha/OST-beta complex, a heterotetramer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood (PubMed:16317684, PubMed:41606314, PubMed:41606328). The OST-alpha/OST-beta complex efficiently transports the major species of bile acids (taurocholate) (PubMed:16317684, PubMed:41606314, PubMed:41606328). Taurine conjugates are transported more efficiently across the basolateral membrane than glycine-conjugated bile acids (By similarity). In the complex, SLC51B/OST-beta promotes the transmembrane translocation of bile acids (PubMed:41606314, PubMed:41606328). Can also transport steroids such as estrone 3-sulfate and dehydroepiandrosterone 3-sulfate, therefore playing a role in the enterohepatic circulation of sterols (PubMed:16317684). Able to transport eicosanoids such as prostaglandin E2 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB]; HNF1A binds and regulates the expression of SLC51B to facilitate the uptake of estrone sulfate in human renal proximal tubule epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; Hepatic OSTalpha-OSTbeta expression is induced by hypoxia., [RefSeq, PubMed]; OSTalpha/OSTbeta expression is induced by bile acids through ligand-dependent transactivation of both OST genes by the nuclear bile acid receptor/farnesoid X receptor (FXR)., [RefSeq, PubMed]; OSTbeta has roles in biological transport and is widely expressed in human tissues, [RefSeq, PubMed]; Overexpression of human OSTalpha and OSTbeta facilitated the uptake of conjugated chenodeoxycholate and the activation of FXR target genes, [RefSeq, PubMed]; Study found lower organic solute transporter beta (OSTbeta) expression in colon cancer tissues compared with adjacent normal tissues and revealed the epigenetic mechanisms of it and proved that p300 controls OSTbeta expression through modulating H3K27Ac state at OSTbeta promoter region and hence causes low expression of OSTbeta in colorectal cancer., [RefSeq, PubMed]; The selective localization of OSTalpha and OSTbeta to the basolateral plasma membrane of epithelial cells responsible for bile acid and sterol reabsorption., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3SYF5", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0015125 bile acid transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0015721 bile acid and bile salt transport;GO:0031647 regulation of protein stability;GO:0090314 positive regulation of protein targeting to membrane;GO:0070863 positive regulation of protein exit from endoplasmic reticulum;GO:0010560 positive regulation of glycoprotein biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q86UW2-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N127-1", "uniprot_id": [ { "id": "O5AS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N127", "type": "external" } ], "mass": 36653.0, "length": 324, "protein_name": "Olfactory receptor 5AS1", "gene_name": "OR5AS1", "organism": "Human", "refseq_name": "olfactory receptor 5AS1", "refseq_ac": [ { "id": "NP_001001921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001921", "type": "external" } ], "gene_names_uniprotkb": "OR5AS1", "gene_names_refseq": "OR11-168; OR5AS1", "protein_names_uniprotkb": "Olfactory receptor 5AS1; Olfactory receptor OR11-168", "protein_names_refseq": "olfactory receptor 5AS1; olfactory receptor OR11-168", "tax_id": 9606, "disease": "", "pathway": " (hsa:219447); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": "Q6IFB8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N127-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGA0-1", "uniprot_id": [ { "id": "OR7G1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGA0", "type": "external" } ], "mass": 34803.0, "length": 311, "protein_name": "Olfactory receptor 7G1", "gene_name": "OR7G1", "organism": "Human", "refseq_name": "olfactory receptor 7G1", "refseq_ac": [ { "id": "NP_001005192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005192", "type": "external" } ], "gene_names_uniprotkb": "OR7G1; OR7G1P", "gene_names_refseq": "OR19-15; OR19-8; OR7G1P; OR7G1", "protein_names_uniprotkb": "Olfactory receptor 7G1; OR19-15; Olfactory receptor 19-15; Olfactory receptor OR19-8", "protein_names_refseq": "olfactory receptor 19-15; olfactory receptor 7G1; olfactory receptor OR19-8", "tax_id": 9606, "disease": "", "pathway": " (hsa:125962); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;23481700;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFJ5;Q96RA1", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGA0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGA8-1", "uniprot_id": [ { "id": "O4F17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGA8", "type": "external" } ], "mass": 34212.0, "length": 305, "protein_name": "Olfactory receptor 4F17", "gene_name": "OR4F17", "organism": "Human", "refseq_name": "olfactory receptor 4F17 isoform 1", "refseq_ac": [ { "id": "NP_001005240", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005240", "type": "external" } ], "gene_names_uniprotkb": "OR4F17; OR4F11P; OR4F18; OR4F19", "gene_names_refseq": "OR4F11P; OR4F17; OR4F18; OR4F19", "protein_names_uniprotkb": "Olfactory receptor 4F17; Olfactory receptor 4F11; Olfactory receptor 4F18; Olfactory receptor 4F19", "protein_names_refseq": "olfactory receptor 4F11; olfactory receptor 4F17 isoform 1; olfactory receptor 4F17; olfactory receptor 4F18; olfactory receptor 4F19; olfactory receptor, family 4, subfamily F, member 11 pseudogene; olfactory receptor, family 4, subfamily F, member 19", "tax_id": 9606, "disease": "", "pathway": " (hsa:81099); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "10460249;11237011;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RNE8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8NGA8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGD3-1", "uniprot_id": [ { "id": "OR4K5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGD3", "type": "external" } ], "mass": 36258.0, "length": 323, "protein_name": "Olfactory receptor 4K5", "gene_name": "OR4K5", "organism": "Human", "refseq_name": "olfactory receptor 4K5", "refseq_ac": [ { "id": "NP_001005483", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005483", "type": "external" } ], "gene_names_uniprotkb": "OR4K5", "gene_names_refseq": "OR14-16; OR4K5", "protein_names_uniprotkb": "Olfactory receptor 4K5; Olfactory receptor OR14-16", "protein_names_refseq": "olfactory receptor 4K5; olfactory receptor OR14-16", "tax_id": 9606, "disease": "", "pathway": " (hsa:79317); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;29769354;31844290;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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[provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RNM8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NGF4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGH7-1", "uniprot_id": [ { "id": "O52L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGH7", "type": "external" } ], "mass": 36270.0, "length": 329, "protein_name": "Olfactory receptor 52L1", "gene_name": "OR52L1", "organism": "Human", "refseq_name": "olfactory receptor 52L1", "refseq_ac": [ { "id": "NP_001005173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005173", "type": "external" } ], "gene_names_uniprotkb": "OR52L1", "gene_names_refseq": "OR11-50; OR52L1", "protein_names_uniprotkb": "Olfactory receptor 52L1; Olfactory receptor OR11-50", "protein_names_refseq": "olfactory receptor 52L1; olfactory receptor OR11-50", "tax_id": 9606, "disease": "", "pathway": " (hsa:338751); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RPA6;Q6IFK9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NGH7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGI3-1", "uniprot_id": [ { "id": "O56B1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGI3", "type": "external" } ], "mass": 36050.0, "length": 324, "protein_name": "Olfactory receptor 56B1", "gene_name": "OR56B1", "organism": "Human", "refseq_name": "olfactory receptor 56B1", "refseq_ac": [ { "id": "NP_001005180", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005180", "type": "external" } ], "gene_names_uniprotkb": "OR56B1; OR56B1P", "gene_names_refseq": "OR11-65; OR56B1P; OR56B1", "protein_names_uniprotkb": "Olfactory receptor 56B1; Olfactory receptor OR11-65", "protein_names_refseq": "olfactory receptor 56B1; olfactory receptor OR11-65; olfactory receptor, family 56, subfamily B, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:387748); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;32350084;32983136;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNY6;B3KV42;Q6IF76", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGI3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGI8-1", "uniprot_id": [ { "id": "O5AN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGI8", "type": "external" } ], "mass": 34789.0, "length": 311, "protein_name": "Olfactory receptor 5AN1", "gene_name": "OR5AN1", "organism": "Human", "refseq_name": "olfactory receptor 5AN1", "refseq_ac": [ { "id": "NP_001004729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004729", "type": "external" } ], "gene_names_uniprotkb": "OR5AN1", "gene_names_refseq": "OR11-244; OR5AN1", "protein_names_uniprotkb": "Olfactory receptor 5AN1; Olfactory receptor OR11-244", "protein_names_refseq": "muscone receptor; olfactory receptor 5AN1; olfactory receptor OR11-244", "tax_id": 9606, "disease": "", "pathway": " (hsa:390195); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "14983052;24361078;24800820;25411495;25418920;25901328;27098692;27515280;29632183;31974307;32066986;34389381;36625229", "class_list": "", "function": "Genetic variation in the human olfactory receptor OR5AN1 associates with the perception of musks., [RefSeq, PubMed]; Molecular mechanism of activation of human musk receptors OR5AN1 and OR1A1 by (R)-muscone and diverse other musk-smelling compounds., [RefSeq, PubMed]; OR5AN1 is an odorant receptor that responds to macrocyclic ketone and lactone musk odor molecules such as exaltone and muscone, and is the ortholog of mouse odorant receptors responsive to muscone., [RefSeq, PubMed]; Odorant receptor for musk, which specifically recognizes muscone, musk xylol, and musk ketone (PubMed:24361078, PubMed:25901328, PubMed:27098692). Ligand-binding causes a conformation change that triggers signaling via G(s)-class of G alpha protein GNAL, activating adenylyl cyclase (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; Steric and energetic characterizations of mouse and human musk receptors activated by nitro musk smelling compounds at molecular level: Statistical physics treatment and molecular docking analysis., [RefSeq, PubMed]; This study identifed that OR5AN1 was a specific muscone receptor expressed by neurons innervating the muscone-responsive anteromedial glomeruli., [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": 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": "B9EIS2;Q6IEV4", "ec_number_list": [], "go_molecular_function": "GO:0004984 olfactory receptor activity;GO:0005549 odorant binding;GO:0001594 trace-amine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050907 detection of chemical stimulus involved in sensory perception;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8NGI8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGI9-1", "uniprot_id": [ { "id": "OR5A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGI9", "type": "external" } ], "mass": 36016.0, "length": 324, "protein_name": "Olfactory receptor 5A2", "gene_name": "OR5A2", "organism": "Human", "refseq_name": "olfactory receptor 5A2", "refseq_ac": [ { "id": "NP_001001954", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001954", "type": "external" } ], "gene_names_uniprotkb": "OR5A2", "gene_names_refseq": "OR5A2", "protein_names_uniprotkb": "Olfactory receptor 5A2; Olfactory receptor OR11-248", "protein_names_refseq": "olfactory receptor 5A2; olfactory receptor OR11-248", "tax_id": 9606, "disease": "", "pathway": " (hsa:219981); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;29557506;31844290;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EH21;Q6IFF4;Q96RB0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGI9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGJ0-1", "uniprot_id": [ { "id": "OR5A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGJ0", "type": "external" } ], "mass": 35152.0, "length": 315, "protein_name": "Olfactory receptor 5A1", "gene_name": "OR5A1", "organism": "Human", "refseq_name": "olfactory receptor 5A1", "refseq_ac": [ { "id": "NP_001004728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004728", "type": "external" } ], "gene_names_uniprotkb": "OR5A1; OR5A1P", "gene_names_refseq": "OR11-249; OR5A1P; OR5A1; OST181", "protein_names_uniprotkb": "Olfactory receptor 5A1; OST181; Olfactory receptor OR11-249", "protein_names_refseq": "olfactory receptor 5A1; olfactory receptor OR11-249; olfactory receptor, family 5, subfamily A, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:219982); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24715725;24800820;27515280;31154438;31974307;32066986;33968037", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EH58;Q6IFF2;Q96RB1", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGJ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGJ5-1", "uniprot_id": [ { "id": "O51L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGJ5", "type": "external" } ], "mass": 35369.0, "length": 315, "protein_name": "Olfactory receptor 51L1", "gene_name": "OR51L1", "organism": "Human", "refseq_name": "olfactory receptor 51L1", "refseq_ac": [ { "id": "NP_001004755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004755", "type": "external" } ], "gene_names_uniprotkb": "OR51L1", "gene_names_refseq": "OR11-31; OR51L1", "protein_names_uniprotkb": "Olfactory receptor 51L1; Olfactory receptor OR11-31", "protein_names_refseq": "olfactory receptor 51L1; olfactory receptor OR11-31", "tax_id": 9606, "disease": "", "pathway": " (hsa:119682); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": "Q6IFE5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8NGJ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGJ6-1", "uniprot_id": [ { "id": "O51A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGJ6", "type": "external" } ], "mass": 35256.0, "length": 313, "protein_name": "Olfactory receptor 51A4", "gene_name": "OR51A4", "organism": "Human", "refseq_name": "olfactory receptor 51A4", "refseq_ac": [ { "id": "NP_001005329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005329", "type": "external" } ], "gene_names_uniprotkb": "OR51A4", "gene_names_refseq": "OR51A4", "protein_names_uniprotkb": "Olfactory receptor 51A4", "protein_names_refseq": "olfactory receptor 51A4", "tax_id": 9606, "disease": "", "pathway": " (hsa:401666); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 4, "publication_id_list": "24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EIP2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NGJ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGL1-1", "uniprot_id": [ { "id": "OR5DI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGL1", "type": "external" } ], "mass": 35348.0, "length": 313, "protein_name": "Olfactory receptor 5D18", "gene_name": "OR5D18", "organism": "Human", "refseq_name": "olfactory receptor 5D18", "refseq_ac": [ { "id": "NP_001001952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001952", "type": "external" } ], "gene_names_uniprotkb": "OR5D18", "gene_names_refseq": "OR11-143; OR5D18", "protein_names_uniprotkb": "Olfactory receptor 5D18; Olfactory receptor OR11-143; Olfactory receptor OR11-152", "protein_names_refseq": "olfactory receptor 5D18; olfactory receptor OR11-143; olfactory receptor OR11-152", "tax_id": 9606, "disease": "", "pathway": " (hsa:219438); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;24715725;24800820;27515280;31844290;31974307;32066986;33968037;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 22, "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": "Q6IF67;Q6IFD3;Q96RB3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NGL1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGL4-1", "uniprot_id": [ { "id": "OR5DD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGL4", "type": "external" } ], "mass": 35447.0, "length": 314, "protein_name": "Olfactory receptor 5D13", "gene_name": "OR5D13", "organism": "Human", "refseq_name": "olfactory receptor 5D13", "refseq_ac": [ { "id": "NP_001001967", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001967", "type": "external" } ], "gene_names_uniprotkb": "OR5D13", "gene_names_refseq": "OR5D13", "protein_names_uniprotkb": "Olfactory receptor 5D13; Olfactory receptor OR11-142; Olfactory receptor OR11-148", "protein_names_refseq": "olfactory receptor 5D13; olfactory receptor OR11-142; olfactory receptor OR11-148", "tax_id": 9606, "disease": "", "pathway": " (hsa:390142); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;30779550;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "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": "Q6IF68;Q6IFC9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGL4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGM9-1", "uniprot_id": [ { "id": "OR8D4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGM9", "type": "external" } ], "mass": 35019.0, "length": 314, "protein_name": "Olfactory receptor 8D4", "gene_name": "OR8D4", "organism": "Human", "refseq_name": "olfactory receptor 8D4", "refseq_ac": [ { "id": "NP_001005197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005197", "type": "external" } ], "gene_names_uniprotkb": "OR8D4", "gene_names_refseq": "OR11-275; OR8D4", "protein_names_uniprotkb": "Olfactory receptor 8D4; Olfactory receptor OR11-275", "protein_names_refseq": "olfactory receptor 8D4; olfactory receptor OR11-275", "tax_id": 9606, "disease": "", "pathway": " (hsa:338662); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;24800820;27515280;29557506;30418433;31974307;32066986;32387766;32983136", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFE9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NGM9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGN8-1", "uniprot_id": [ { "id": "OR4A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGN8", "type": "external" } ], "mass": 33593.0, "length": 299, "protein_name": "Putative olfactory receptor 4A4", "gene_name": "OR4A4P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR4A4P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative olfactory receptor 4A4; Olfactory receptor OR11-107", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9752946)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;29769354;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6IF83;Q96R66", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGN8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGP2-1", "uniprot_id": [ { "id": "OR8J1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGP2", "type": "external" } ], "mass": 35415.0, "length": 316, "protein_name": "Olfactory receptor 8J1", "gene_name": "OR8J1", "organism": "Human", "refseq_name": "olfactory receptor 8J1", "refseq_ac": [ { "id": "NP_001005205", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005205", "type": "external" } ], "gene_names_uniprotkb": "OR8J1", "gene_names_refseq": "OR11-183; OR8J1", "protein_names_uniprotkb": "Olfactory receptor 8J1; Olfactory receptor OR11-183", "protein_names_refseq": "olfactory receptor 8J1; olfactory receptor OR11-183", "tax_id": 9606, "disease": "", "pathway": " (hsa:219477); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNQ6;B9EH63;Q6IFC2;Q96RC3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGP2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGP8-1", "uniprot_id": [ { "id": "OR5M1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGP8", "type": "external" } ], "mass": 35608.0, "length": 315, "protein_name": "Olfactory receptor 5M1", "gene_name": "OR5M1", "organism": "Human", "refseq_name": "olfactory receptor 5M1", "refseq_ac": [ { "id": "NP_001004740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004740", "type": "external" } ], "gene_names_uniprotkb": "OR5M1", "gene_names_refseq": "OR11-208; OR5M1; OST050", "protein_names_uniprotkb": "Olfactory receptor 5M1; OST050; Olfactory receptor OR11-208", "protein_names_refseq": "olfactory receptor 5M1; olfactory receptor OR11-208; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:390168); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IF60;Q96RB6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGP8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGP9-1", "uniprot_id": [ { "id": "O5AR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGP9", "type": "external" } ], "mass": 34815.0, "length": 310, "protein_name": "Olfactory receptor 5AR1", "gene_name": "OR5AR1", "organism": "Human", "refseq_name": "olfactory receptor 5AR1", "refseq_ac": [ { "id": "NP_001004730", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004730", "type": "external" } ], "gene_names_uniprotkb": "OR5AR1", "gene_names_refseq": "OR11-209; OR5AR1", "protein_names_uniprotkb": "Olfactory receptor 5AR1; Olfactory receptor OR11-209", "protein_names_refseq": "olfactory receptor 5AR1; olfactory receptor OR11-209", "tax_id": 9606, "disease": "", "pathway": " (hsa:219493); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;17973576;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6IF61", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005507 copper ion binding;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGP9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGQ5-1", "uniprot_id": [ { "id": "OR9Q1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGQ5", "type": "external" } ], "mass": 34757.0, "length": 310, "protein_name": "Olfactory receptor 9Q1", "gene_name": "OR9Q1", "organism": "Human", "refseq_name": "olfactory receptor 9Q1", "refseq_ac": [ { "id": "NP_001005212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005212", "type": "external" } ], "gene_names_uniprotkb": "OR9Q1", "gene_names_refseq": "OR9Q1", "protein_names_uniprotkb": "Olfactory receptor 9Q1", "protein_names_refseq": "olfactory receptor 9Q1", "tax_id": 9606, "disease": "", "pathway": " (hsa:219956); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "23481700;24800820;26154972;27515280;28904123;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2TAN3;Q96RA7", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGQ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGQ6-1", "uniprot_id": [ { "id": "OR9I1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGQ6", "type": "external" } ], "mass": 34908.0, "length": 314, "protein_name": "Olfactory receptor 9I1", "gene_name": "OR9I1", "organism": "Human", "refseq_name": "olfactory receptor 9I1", "refseq_ac": [ { "id": "NP_001005211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005211", "type": "external" } ], "gene_names_uniprotkb": "OR9I1", "gene_names_refseq": "OR11-228; OR9I1", "protein_names_uniprotkb": "Olfactory receptor 9I1; Olfactory receptor OR11-228", "protein_names_refseq": "olfactory receptor 9I1; olfactory receptor OR11-228", "tax_id": 9606, "disease": "", "pathway": " (hsa:219954); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;29557506;31974307;32066986;35051231;35494241", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFH0;Q96RA8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGQ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGR4-1", "uniprot_id": [ { "id": "OR5C1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGR4", "type": "external" } ], "mass": 34991.0, "length": 320, "protein_name": "Olfactory receptor 5C1", "gene_name": "OR5C1", "organism": "Human", "refseq_name": "olfactory receptor 5C1", "refseq_ac": [ { "id": "NP_001001923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001923", "type": "external" } ], "gene_names_uniprotkb": "OR5C1; OR5C2P", "gene_names_refseq": "OR5C1; OR5C2P; OR9-31; OR9-F", "protein_names_uniprotkb": "Olfactory receptor 5C1; OR9-F; Olfactory receptor 5C2; Olfactory receptor 9-F", "protein_names_refseq": "hRPK-465_F_21; olfactory receptor 5C1; olfactory receptor 5C2; olfactory receptor 9-F; olfactory receptor, family 5, subfamily C, member 2 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:392391); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RN54;B9EGT0;Q96RC4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NGR4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGR5-1", "uniprot_id": [ { "id": "OR1L4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGR5", "type": "external" } ], "mass": 35277.0, "length": 311, "protein_name": "Olfactory receptor 1L4", "gene_name": "OR1L4", "organism": "Human", "refseq_name": "olfactory receptor 1L4", "refseq_ac": [ { "id": "NP_001005235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005235", "type": "external" } ], "gene_names_uniprotkb": "OR1L4; OR1L5", "gene_names_refseq": "OR1L4; OR1L5; OR9-29; OR9-E; OST046", "protein_names_uniprotkb": "Olfactory receptor 1L4; OR9-E; OST046; Olfactory receptor 1L5; Olfactory receptor 9-E; Olfactory receptor OR9-29", "protein_names_refseq": "olfactory receptor 1L4; olfactory receptor 1L5; olfactory receptor 9-E; olfactory receptor OR9-29; olfactory receptor, family 1, subfamily L, member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:254973); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": "Q6IFN0;Q96R81", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGR5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGR8-1", "uniprot_id": [ { "id": "OR1L8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGR8", "type": "external" } ], "mass": 35083.0, "length": 309, "protein_name": "Olfactory receptor 1L8", "gene_name": "OR1L8", "organism": "Human", "refseq_name": "olfactory receptor 1L8", "refseq_ac": [ { "id": "NP_001004454", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004454", "type": "external" } ], "gene_names_uniprotkb": "OR1L8", "gene_names_refseq": "OR1L8; OR9-24", "protein_names_uniprotkb": "Olfactory receptor 1L8; Olfactory receptor OR9-24", "protein_names_refseq": "olfactory receptor 1L8; olfactory receptor OR9-24", "tax_id": 9606, "disease": "", "pathway": " (hsa:138881); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;24800820;27515280;30315122;31974307;32066986;32387766;33141586;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; The Olfactory Receptor Gene Product, OR5H2, Modulates Endometrial Cancer Cells Proliferation via Interaction with the IGF1 Signaling Pathway. 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(HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RN80;Q5T2T2;Q6IF86", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8NGZ3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGZ4-1", "uniprot_id": [ { "id": "OR2G3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGZ4", "type": "external" } ], "mass": 34506.0, "length": 309, "protein_name": "Olfactory receptor 2G3", "gene_name": "OR2G3", "organism": "Human", "refseq_name": "olfactory receptor 2G3", "refseq_ac": [ { "id": "NP_001001914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001914", "type": "external" } ], "gene_names_uniprotkb": "OR2G3", "gene_names_refseq": "OR1-33; OR2G3", "protein_names_uniprotkb": "Olfactory receptor 2G3; Olfactory receptor OR1-33", "protein_names_refseq": "olfactory receptor 2G3; olfactory receptor OR1-33", "tax_id": 9606, "disease": "", "pathway": " (hsa:81469); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;34087483;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RN64;Q5JQT1;Q6IF45", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGZ4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGZ5-1", "uniprot_id": [ { "id": "OR2G2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGZ5", "type": "external" } ], "mass": 35559.0, "length": 317, "protein_name": "Olfactory receptor 2G2", "gene_name": "OR2G2", "organism": "Human", "refseq_name": "olfactory receptor 2G2", "refseq_ac": [ { "id": "NP_001001915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001915", "type": "external" } ], "gene_names_uniprotkb": "OR2G2", "gene_names_refseq": "OR1-32; OR2G2", "protein_names_uniprotkb": "Olfactory receptor 2G2; Olfactory receptor OR1-32", "protein_names_refseq": "olfactory receptor 2G2; olfactory receptor OR1-32; olfactory receptor, family 2, subfamily G, member 2 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:81470); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;22544926;23481700;24800820;27515280;31848261;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5JQT2;Q6IEZ0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NGZ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGZ9-1", "uniprot_id": [ { "id": "O2T10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGZ9", "type": "external" } ], "mass": 35403.0, "length": 312, "protein_name": "Olfactory receptor 2T10", "gene_name": "OR2T10", "organism": "Human", "refseq_name": "olfactory receptor 2T10", "refseq_ac": [ { "id": "NP_001004693", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004693", "type": "external" } ], "gene_names_uniprotkb": "OR2T10", "gene_names_refseq": "OR1-64; OR2T10", "protein_names_uniprotkb": "Olfactory receptor 2T10; Olfactory receptor OR1-64", "protein_names_refseq": "olfactory receptor 2T10; olfactory receptor OR1-64", "tax_id": 9606, "disease": "", "pathway": " (hsa:127069); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;32938616", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 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": "B2RNK7", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGZ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH01-1", "uniprot_id": [ { "id": "O2T11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH01", "type": "external" } ], "mass": 34797.0, "length": 316, "protein_name": "Olfactory receptor 2T11", "gene_name": "OR2T11", "organism": "Human", "refseq_name": "olfactory receptor 2T11", "refseq_ac": [ { "id": "NP_001001964", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001964", "type": "external" } ], "gene_names_uniprotkb": "OR2T11", "gene_names_refseq": "OR2T11Q; OR2T11", "protein_names_uniprotkb": "Olfactory receptor 2T11; Olfactory receptor OR1-65", "protein_names_refseq": "olfactory receptor 2T11; olfactory receptor OR1-65", "tax_id": 9606, "disease": "", "pathway": " (hsa:127077); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;24800820;25977809;27515280;29557506;31974307;32066986;35051231;36215666", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B9EIN4;Q6IEY6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NH01-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH02-1", "uniprot_id": [ { "id": "O2T29_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH02", "type": "external" } ], "mass": 35595.0, "length": 315, "protein_name": "Olfactory receptor 2T29", "gene_name": "OR2T29", "organism": "Human", "refseq_name": "olfactory receptor 2T29", "refseq_ac": [ { "id": "NP_001004694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004694", "type": "external" } ], "gene_names_uniprotkb": "OR2T29", "gene_names_refseq": "OR2T29", "protein_names_uniprotkb": "Olfactory receptor 2T29", "protein_names_refseq": "olfactory receptor 2T29", "tax_id": 9606, "disease": "", "pathway": " (hsa:343563); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 4, "publication_id_list": "24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NH02-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH06-1", "uniprot_id": [ { "id": "OR1P1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH06", "type": "external" } ], "mass": 36695.0, "length": 330, "protein_name": "Olfactory receptor 1P1", "gene_name": "OR1P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR1P1; OR1P1P", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 1P1; OR17-208; Olfactory receptor 17-208; Olfactory receptor OR17-9", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9752946)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10673334;12730696;14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NH06-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH16-1", "uniprot_id": [ { "id": "OR2L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH16", "type": "external" } ], "mass": 35495.0, "length": 312, "protein_name": "Olfactory receptor 2L2", "gene_name": "OR2L2", "organism": "Human", "refseq_name": "olfactory receptor 2L2 isoform 1", "refseq_ac": [ { "id": "NP_001004686", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004686", "type": "external" } ], "gene_names_uniprotkb": "OR2L2; OR2L12; OR2L4P", "gene_names_refseq": "HSHTPCRH07; HTPCRH07; OR1-48; OR2L12; OR2L2; OR2L4P", "protein_names_uniprotkb": "Olfactory receptor 2L2; HTPCRH07; Olfactory receptor 2L12; Olfactory receptor 2L4", "protein_names_refseq": "olfactory receptor 2L12; olfactory receptor 2L2 isoform 1; olfactory receptor 2L2; olfactory receptor 2L4; olfactory receptor OR1-48 pseudogene; olfactory receptor, family 2, subfamily L, member 12; olfactory receptor, family 2, subfamily L, member 4 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:26246); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "1370859;24800820;27515280;31974307;32066986;35051231;35254053", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q2M3T5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NH16-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH48-1", "uniprot_id": [ { "id": "OR5B3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH48", "type": "external" } ], "mass": 35258.0, "length": 314, "protein_name": "Olfactory receptor 5B3", "gene_name": "OR5B3", "organism": "Human", "refseq_name": "olfactory receptor 5B3", "refseq_ac": [ { "id": "NP_001005469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005469", "type": "external" } ], "gene_names_uniprotkb": "OR5B3; OR5B13", "gene_names_refseq": "OR11-239; OR5B13; OR5B3; OST129", "protein_names_uniprotkb": "Olfactory receptor 5B3; Olfactory receptor 5B13; Olfactory receptor OR11-239", "protein_names_refseq": "olfactory receptor 5B13; olfactory receptor 5B3; olfactory receptor OR11-239; olfactory receptor, family 5, subfamily B, member 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:441608); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "14983052;24800820;27515280;28228285;28834231;29557506;31844290;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 17, "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": "Q6IEV6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NH48-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH54-1", "uniprot_id": [ { "id": "O56A3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH54", "type": "external" } ], "mass": 35611.0, "length": 315, "protein_name": "Olfactory receptor 56A3", "gene_name": "OR56A3", "organism": "Human", "refseq_name": "olfactory receptor 56A3", "refseq_ac": [ { "id": "NP_001003443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003443", "type": "external" } ], "gene_names_uniprotkb": "OR56A3; OR56A3P; OR56A6", "gene_names_refseq": "OR56A2P; OR56A3P; OR56A3; OR56A6", "protein_names_uniprotkb": "Olfactory receptor 56A3; Olfactory receptor 56A6", "protein_names_refseq": "olfactory receptor 56A3; olfactory receptor 56A6; olfactory receptor OR11-51; olfactory receptor, family 56, subfamily A, member 2 pseudogene; olfactory receptor, family 56, subfamily A, member 3 pseudogene; olfactory receptor, family 56, subfamily A, member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:390083); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "14983052;20934997;24715725;24800820;27515280;29557506;31092671;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NN77;Q6IFF7", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NH54-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH56-1", "uniprot_id": [ { "id": "O52N5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH56", "type": "external" } ], "mass": 36212.0, "length": 324, "protein_name": "Olfactory receptor 52N5", "gene_name": "OR52N5", "organism": "Human", "refseq_name": "olfactory receptor 52N5", "refseq_ac": [ { "id": "NP_001001922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001922", "type": "external" } ], "gene_names_uniprotkb": "OR52N5", "gene_names_refseq": "OR11-62; OR52N5Q; OR52N5", "protein_names_uniprotkb": "Olfactory receptor 52N5; Olfactory receptor OR11-62", "protein_names_refseq": "olfactory receptor 52N5; olfactory receptor OR11-62", "tax_id": 9606, "disease": "", "pathway": " (hsa:390075); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B9EH12;Q6IFG2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NH56-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH61-1", "uniprot_id": [ { "id": "O51F2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH61", "type": "external" } ], "mass": 38518.0, "length": 342, "protein_name": "Olfactory receptor 51F2", "gene_name": "OR51F2", "organism": "Human", "refseq_name": "olfactory receptor 51F2", "refseq_ac": [ { "id": "NP_001004753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004753", "type": "external" } ], "gene_names_uniprotkb": "OR51F2", "gene_names_refseq": "OR11-23; OR51F2", "protein_names_uniprotkb": "Olfactory receptor 51F2; Olfactory receptor OR11-23", "protein_names_refseq": "olfactory receptor 51F2; olfactory receptor OR11-23", "tax_id": 9606, "disease": "", "pathway": " (hsa:119694); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986;36215666", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": "Q6IFI1", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NH61-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH63-1", "uniprot_id": [ { "id": "O51H1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH63", "type": "external" } ], "mass": 33766.0, "length": 302, "protein_name": "Olfactory receptor 51H1", "gene_name": "OR51H1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR51H1; OR51H1P", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 51H1; Olfactory receptor OR11-25", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9752946)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31154438;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFI3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NH63-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH70-1", "uniprot_id": [ { "id": "O4A16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH70", "type": "external" } ], "mass": 36922.0, "length": 328, "protein_name": "Olfactory receptor 4A16", "gene_name": "OR4A16", "organism": "Human", "refseq_name": "olfactory receptor 4A16", "refseq_ac": [ { "id": "NP_001005274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005274", "type": "external" } ], "gene_names_uniprotkb": "OR4A16", "gene_names_refseq": "OR11-117; OR4A16Q; OR4A16", "protein_names_uniprotkb": "Olfactory receptor 4A16; Olfactory receptor OR11-117", "protein_names_refseq": "olfactory receptor 4A16; olfactory receptor OR11-117", "tax_id": 9606, "disease": "", "pathway": " (hsa:81327); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;37074911", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFL3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NH70-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH72-1", "uniprot_id": [ { "id": "OR4C6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH72", "type": "external" } ], "mass": 34558.0, "length": 309, "protein_name": "Olfactory receptor 4C6", "gene_name": "OR4C6", "organism": "Human", "refseq_name": "olfactory receptor 4C6", "refseq_ac": [ { "id": "NP_001004704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004704", "type": "external" } ], "gene_names_uniprotkb": "OR4C6", "gene_names_refseq": "OR11-138; OR4C6", "protein_names_uniprotkb": "Olfactory receptor 4C6; Olfactory receptor OR11-138", "protein_names_refseq": "olfactory receptor 4C6; olfactory receptor OR11-138", "tax_id": 9606, "disease": "", "pathway": " (hsa:219432); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "14983052;24800820;27515280;28228285;31844290;31974307;32066986;33141586;35051231;35494241", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 27, "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": "B2RP11;Q6IFD2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NH72-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH87-1", "uniprot_id": [ { "id": "OR9G1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH87", "type": "external" } ], "mass": 34071.0, "length": 305, "protein_name": "Olfactory receptor 9G1", "gene_name": "OR9G1", "organism": "Human", "refseq_name": "olfactory receptor 9G1", "refseq_ac": [ { "id": "NP_001005213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005213", "type": "external" } ], "gene_names_uniprotkb": "OR9G1; OR9G5", "gene_names_refseq": "OR9G1; OR9G5", "protein_names_uniprotkb": "Olfactory receptor 9G1; Olfactory receptor 9G5; Olfactory receptor OR11-114", "protein_names_refseq": "olfactory receptor 9G1; olfactory receptor 9G5; olfactory receptor OR11-114; olfactory receptor OR11-210; olfactory receptor, family 9, subfamily G, member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:390174); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IEU9;Q8NGQ0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8NH87-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH89-1", "uniprot_id": [ { "id": "O5AK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH89", "type": "external" } ], "mass": 33542.0, "length": 298, "protein_name": "Olfactory receptor 5AK3", "gene_name": "OR5AK3P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR5AK3P; OR5AK3", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 5AK3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "34357683", "class_list": "", "function": "Odorant receptor., [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": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8NH89-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHW6-1", "uniprot_id": [ { "id": "OTOSP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHW6", "type": "external" } ], "mass": 9939.0, "length": 89, "protein_name": "Otospiralin", "gene_name": "OTOS", "organism": "Human", "refseq_name": "otospiralin precursor", "refseq_ac": [ { "id": "NP_683764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_683764", "type": "external" } ], "gene_names_uniprotkb": "OTOS; OTOSP", "gene_names_refseq": "OTOSP; OTOS", "protein_names_uniprotkb": "Otospiralin", "protein_names_refseq": "otospiralin precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:150677)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11880501;12687421;25410892", "class_list": "", "function": "May be essential for the survival of the neurosensory epithelium of the inner ear., [UniProtKB]; OTOSP spans 1630 nucleotides, has 4 exons & encodes a 567-base cDNA. OTOSP is on chromosome 2 at position q37.3. Beside intronic polymorphisms, a rare variant (Pro7Leu) was found in deafness patients & controls, excluding it as a genetic deafness gene., [RefSeq, PubMed]; Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM, Mar 2008]., [RefSeq]; Study indicates a potentially protective role for the variant G alleles of SNPs rs77124181 and rs2291767 in Otos against the development of cisplatin-induced ototoxicity, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q53SW6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8NHW6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WV74-1", "uniprot_id": [ { "id": "NUDT8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WV74", "type": "external" } ], "mass": 25370.0, "length": 236, "protein_name": "Mitochondrial coenzyme A diphosphatase NUDT8", "gene_name": "NUDT8", "organism": "Human", "refseq_name": "mitochondrial coenzyme A diphosphatase NUDT8 isoform 1", "refseq_ac": [ { "id": "NP_001230679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230679", "type": "external" } ], "gene_names_uniprotkb": "NUDT8", "gene_names_refseq": "NUDT8", "protein_names_uniprotkb": "Mitochondrial coenzyme A diphosphatase NUDT8; 3.6.1.-; 3.6.1.77; Nucleoside diphosphate-linked moiety X motif 8; Nudix motif 8", "protein_names_refseq": "mitochondrial coenzyme A diphosphatase NUDT8 isoform 1; mitochondrial coenzyme A diphosphatase NUDT8; nucleoside diphosphate-linked moiety X motif 8, mitochondrial; nudix (nucleoside diphosphate linked moiety X)-type motif 8; nudix motif 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:254552); (R-HSA-199220)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10329687;10334869;10567687;11158296;12757929;12815048;17242360;19429682;20877624;21183659;25576301;26992070;27322068;28904123;29242379;30315122;30410026;30429286;31004344;31844290;32157095;32234503;32357974;32938616;33912179;33968037;35051231;36983025;40307207;8934567;9516450", "class_list": "", "function": "Acyl-CoA diphosphatase that mediates the hydrolysis of a wide range of CoA and CoA esters yielding 3',5'-ADP and the corresponding 4'-phosphopantetheine derivative as products (By similarity). Hydrolyzes short- and medium-chain acyl-CoAs, exhibiting the highest activity toward free CoA, hexanoyl-CoA, and octanoyl-CoA and the lowest activity against acetyl-CoA (By similarity). Exhibits decapping activity towards dpCoA-capped RNAs in vitro (By similarity)., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6ZW59", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" }, { "id": "3.6.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.17", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.64", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.6.1.68", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.68", "type": "external" }, { "id": "3.6.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.76", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0030145 manganese ion binding;GO:0010945 coenzyme A diphosphatase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0036114 medium-chain fatty-acyl-CoA catabolic process;GO:2001294 malonyl-CoA catabolic process;GO:0015938 coenzyme A catabolic process;GO:0046356 acetyl-CoA catabolic process;GO:0044580 butyryl-CoA catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8WV74-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DE0-1", "uniprot_id": [ { "id": "NUD16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DE0", "type": "external" } ], "mass": 21273.0, "length": 195, "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "NUDT16", "organism": "Human", "refseq_name": "U8 snoRNA-decapping enzyme isoform 3", "refseq_ac": [ { "id": "NP_001165376", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165376", "type": "external" } ], "gene_names_uniprotkb": "NUDT16", "gene_names_refseq": "NUDT16", "protein_names_uniprotkb": "U8 snoRNA-decapping enzyme; 3.6.1.62; 3.6.1.64; IDP phosphatase; IDPase; Inosine diphosphate phosphatase; Nucleoside diphosphate-linked moiety X motif 16; Nudix hydrolase 16; Nudix motif 16; U8 snoRNA-binding protein H29K; m7GpppN-mRNA hydrolase", "protein_names_refseq": "IDP phosphatase; IDPase; U8 snoRNA-binding protein H29K; U8 snoRNA-decapping enzyme isoform 3; U8 snoRNA-decapping enzyme; inosine diphosphate phosphatase; m7GpppN-mRNA hydrolase; nucleoside diphosphate-linked moiety X motif 16; nudix (nucleoside diphosphate linked moiety X)-type motif 16; nudix motif 16; testicular tissue protein Li 129", "tax_id": 9606, "disease": "", "pathway": " (hsa:131870); (R-HSA-2393930)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "12767940;15053875;16344560;17052728;17567574;18462755;18607096;18820299;20385596;21070968;21337011;21389046;22556419;23481700;25692488;26121039;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28514659;28832583;28904123;29242379;29393594;29557506;29632046;29769354;29786170;30315122;30429286;31844290;31848261;31911551;32157095;32265295;32350084;32387766;32432673;32502341;33592498;33947817;33968037;34357683;34932366;35174610;35580925;36010968;37938771;38324469", "class_list": "", "function": "CAG RNAs induce DNA damage and apoptosis by silencing NUDT16 expression in polyglutamine degeneration., [RefSeq, PubMed]; Mammalian Nudix proteins cleave nucleotide metabolite caps on RNAs., [RefSeq, PubMed]; NUDT16 regulates CtIP PARylation to dictate homologous recombination repair., [RefSeq, PubMed]; Nudix Hydrolase NUDT16 Regulates 53BP1 Protein by Reversing 53BP1 ADP-Ribosylation. Erratum:[Cancer Res. 2022 Aug 3;82(15):2807. doi: 10.1158/0008-5472.CAN-22-1948. PMID: 35919993], [RefSeq, PubMed]; RNA-binding and decapping enzyme that catalyzes the cleavage of the cap structure of snoRNAs and mRNAs in a metal-dependent manner. Part of the U8 snoRNP complex that is required for the accumulation of mature 5.8S and 28S rRNA. Has diphosphatase activity and removes m7G and/or m227G caps from U8 snoRNA and leaves a 5'monophosphate on the RNA. Also catalyzes the cleavage of the cap structure on mRNAs. Does not hydrolyze cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG). Also hydrolysis m7G- and m227G U3-capped RNAs but with less efficiencies. Has broad substrate specificity with manganese or cobalt as cofactor and can act on various RNA species. Binds to the U8 snoRNA; metal is not required for RNA-binding. May play a role in the regulation of snoRNAs and mRNAs degradation. Also acts as a phosphatase; hydrolyzes the non-canonical purine nucleotides inosine diphosphate (IDP) and deoxyinosine diphosphate (dITP) as well as guanosine diphosphate (GDP), deoxyguanosine diphosphate (dGDP), xanthine diphosphate (XDP), inosine triphosphate (ITP) and deoxyinosine triphosphate (ITP) to their respective monophosphate derivatives and does not distinguish between the deoxy- and ribose forms (PubMed:20385596, PubMed:26121039). The order of activity with different substrates is IDP > dIDP >> GDP = dGDP > XDP = ITP = dITP (PubMed:20385596). Binds strongly to GTP, ITP and XTP. Participates in the hydrolysis of dIDP/IDP and probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions (PubMed:20385596). Exhibits decapping activity towards NAD-capped RNAs and FAD-capped RNAs (PubMed:32432673). Exhibits decapping activity towards dpCoA-capped RNAs in vitro (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Recombinant NUDT16, a decapping enzyme, has been crystallized. NUDT16 plays a pivotal role in U8 snoRNA stability., [RefSeq, PubMed]; Transcriptomic profile investigations highlight a putative role for NUDT16 in sepsis., [RefSeq, PubMed]; X29/H29K may be the nuclear counterparts of the cytoplasmic decapping machinery, localized in specialized bodies involved in RNA decay, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B4E3B4;E9PED4;F5GYJ1;Q96N82", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.59", "type": "external" }, { "id": "3.6.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.52", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.10", "type": "external" }, { "id": "3.6.1.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.61", "type": "external" }, { "id": "3.6.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.17", "type": "external" }, { "id": "3.6.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.64", "type": "external" }, { "id": "3.6.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.22", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.6.1.68", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.68", "type": "external" }, { "id": "3.6.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.76", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003729 mRNA binding;GO:0030145 manganese ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006402 mRNA catabolic process;GO:0016077 sno(s)RNA catabolic process;GO:0035863 dITP catabolic process;GO:2000233 negative regulation of rRNA processing;GO:0090068 positive regulation of cell cycle process", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q96DE0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RD0-1", "uniprot_id": [ { "id": "OR8B2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RD0", "type": "external" } ], "mass": 35272.0, "length": 313, "protein_name": "Olfactory receptor 8B2", "gene_name": "OR8B2", "organism": "Human", "refseq_name": "olfactory receptor 8B2", "refseq_ac": [ { "id": "NP_001005468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005468", "type": "external" } ], "gene_names_uniprotkb": "OR8B2", "gene_names_refseq": "OR11-309; OR11-310; OR8B2", "protein_names_uniprotkb": "Olfactory receptor 8B2; Olfactory receptor OR11-309", "protein_names_refseq": "olfactory receptor 8B2; olfactory receptor OR11-309; olfactory receptor OR11-310", "tax_id": 9606, "disease": "", "pathway": " (hsa:26595); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8NGH2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q96RD0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BR26-1", "uniprot_id": [ { "id": "OCSTP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BR26", "type": "external" } ], "mass": 61579.0, "length": 566, "protein_name": "Osteoclast stimulatory transmembrane protein", "gene_name": "OCSTAMP", "organism": "Human", "refseq_name": "osteoclast stimulatory transmembrane protein", "refseq_ac": [ { "id": "NP_542452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542452", "type": "external" } ], "gene_names_uniprotkb": "OCSTAMP; C20orf123", "gene_names_refseq": "C20orf123; OC-STAMP; OCSTAMP; dJ257E24.3", "protein_names_uniprotkb": "Osteoclast stimulatory transmembrane protein; OC-STAMP", "protein_names_refseq": "osteoclast stimulatory transmembrane protein; transmembrane protein C20orf123", "tax_id": 9606, "disease": "", "pathway": " (hsa:128506)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "28832583;28904123;28981605;32282962;32387766;32938616;33912179;34509645;35051231", "class_list": "", "function": "Osteoclast stimulatory transmembrane protein (OC-STAMP) is a promising molecular prognostic indicator for multiple myeloma., [RefSeq, PubMed]; Probable cell surface receptor that plays a role in cellular fusion and cell differentiation. Cooperates with DCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Involved in osteoclast bone resorption. Promotes osteoclast differentiation and may play a role in the multinucleated osteoclast maturation (By similarity)., [UniProtKB]; Results indicte that oc-stamp may play an important role in macrophage polarization and inhibit the M1 pro-inflammatory state., [RefSeq, PubMed]; The protein encoded by this gene is orthologous to the mouse osteoclast stimulatory transmembrane protein (OCSTAMP), which is a membrane-anchored cell surface receptor that promotes nucleation of osteoclasts. The mouse protein is also involved in bone resorption and osteoclast differentiation. [provided by RefSeq, Feb 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0071356 cellular response to tumor necrosis factor;GO:0071391 cellular response to estrogen stimulus;GO:0045672 positive regulation of osteoclast differentiation;GO:0072674 multinuclear osteoclast differentiation;GO:0090290 positive regulation of osteoclast proliferation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9BR26-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H209-1", "uniprot_id": [ { "id": "O10A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H209", "type": "external" } ], "mass": 35117.0, "length": 315, "protein_name": "Olfactory receptor 10A4", "gene_name": "OR10A4", "organism": "Human", "refseq_name": "olfactory receptor 10A4", "refseq_ac": [ { "id": "NP_997069", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997069", "type": "external" } ], "gene_names_uniprotkb": "OR10A4; OR10A4P", "gene_names_refseq": "JCG5; OR10A4P; OR10A4", "protein_names_uniprotkb": "Olfactory receptor 10A4; HP2; Olfactory receptor-like protein JCG5", "protein_names_refseq": "hP2 olfactory receptor; olfactory receptor 10A4; olfactory receptor OR11-87; olfactory receptor, family 10, subfamily A, member 4 pseudogene; olfactory receptor-like protein JCG5", "tax_id": 9606, "disease": "", "pathway": " (hsa:283297); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11416212;11705801;24800820;27515280;31844290;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor (Potential). May be involved in taste perception., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNP5;B9EH36;Q96R20", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9H209-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H342-1", "uniprot_id": [ { "id": "O51J1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H342", "type": "external" } ], "mass": 34838.0, "length": 316, "protein_name": "Olfactory receptor 51J1", "gene_name": "OR51J1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR51J1; OR51J1P; OR51J2", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 51J1; Odorant receptor HOR5'beta8; Olfactory receptor 51J2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9752946)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11121057;17973576;24800820;27515280;31154438;31974307;32066986;32938616", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9H342-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6K4-1", "uniprot_id": [ { "id": "OPA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6K4", "type": "external" } ], "mass": 19996.0, "length": 179, "protein_name": "Optic atrophy 3 protein", "gene_name": "OPA3", "organism": "Human", "refseq_name": "optic atrophy 3 protein isoform a", "refseq_ac": [ { "id": "NP_001017989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017989", "type": "external" } ], "gene_names_uniprotkb": "OPA3", "gene_names_refseq": "MGA3; OPA3", "protein_names_uniprotkb": "Optic atrophy 3 protein", "protein_names_refseq": "3-methylglutaconic aciduria type III; OPA3 outer mitochondrial membrane lipid metabolism regulator; Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus'); optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia); optic atrophy 3 protein isoform a; optic atrophy 3 protein", "tax_id": 9606, "disease": "3-methylglutaconic aciduria type 3 (Disease Ontology:DOID:0110004); optic atrophy 3 (Disease Ontology:DOID:0111433)", "pathway": " (hsa:80207)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11668429;12865426;15342707;25205859;26154972;28218747;29242379;29557506;30315122;30991875;31696227;31844290;31928268;32157095;32350084;32938616;35051231;35318648;36240223", "class_list": "", "function": "Homozygous OPA3 mutation is associated with 3-methylglutaconic aciduria type III and optic atrophy., [RefSeq, PubMed]; Low OPA3 expression is associated with squamous cell carcinoma in Paranasal Sinus Neoplasms., [RefSeq, PubMed]; May play some role in mitochondrial processes., [UniProtKB]; Mutations of the OPA3 gene can cause either autosomal dominant or autosomal recessive optic atrophy. Publication Status: Online-Only, [RefSeq, PubMed]; The mouse ortholog of OPA3 purifies with mitochondrial inner membranes., [RefSeq, PubMed]; The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]., [RefSeq]; Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6P384;Q8N784", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0019216 regulation of lipid metabolic process;GO:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9H6K4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZP2-1", "uniprot_id": [ { "id": "OR6C2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZP2", "type": "external" } ], "mass": 35178.0, "length": 312, "protein_name": "Olfactory receptor 6C2", "gene_name": "OR6C2", "organism": "Human", "refseq_name": "olfactory receptor 6C2", "refseq_ac": [ { "id": "NP_473446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_473446", "type": "external" } ], "gene_names_uniprotkb": "OR6C2", "gene_names_refseq": "OR6C2; OR6C67", "protein_names_uniprotkb": "Olfactory receptor 6C2; HSA3", "protein_names_refseq": "HSA3; olfactory receptor 6C2", "tax_id": 9606, "disease": "", "pathway": " (hsa:341416); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "10706615;24800820;27515280;29557506;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9NZP2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHM6-1", "uniprot_id": [ { "id": "OPN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHM6", "type": "external" } ], "mass": 52635.0, "length": 478, "protein_name": "Melanopsin", "gene_name": "OPN4", "organism": "Human", "refseq_name": "melanopsin isoform 2", "refseq_ac": [ { "id": "NP_001025186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025186", "type": "external" } ], "gene_names_uniprotkb": "OPN4; MOP", "gene_names_refseq": "MOP; OPN4", "protein_names_uniprotkb": "Melanopsin; Opsin-4", "protein_names_refseq": "melanopsin isoform 2; melanopsin", "tax_id": 9606, "disease": "retinitis pigmentosa 4 (Disease Ontology:DOID:0110372); sensorineural hearing loss (Disease Ontology:DOID:10003); retinitis pigmentosa (Disease Ontology:DOID:10584); retinal disease (Disease Ontology:DOID:5679); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:94233); (R-HSA-416476); (R-HSA-419771)", "pathway_count": 3, "publication_count": 45, "publication_id_list": "10191087;10234000;10567430;10581022;10632589;10727532;10861009;11015615;11742120;11753430;12120503;1302020;14623103;1531728;1557123;15674243;15674244;15951850;16182515;16268778;16339447;16754659;16923326;18434541;18515384;18577758;18936096;1905813;2841328;2937147;29557506;3086311;35051231;35274137;35562405;35637236;38808443;39151779;6589631;7937899;7947717;8664309;9275222;9305846;9770463", "class_list": "", "function": "G protein-coupled photoreceptor that signals through the G(q/11) family of G proteins in response to light in intrinsically photosensitive retinal ganglion cells (ipRGCs) (By similarity). Can also activate other G proteins, including G(i/o) and G(s), depending on the cell type, leading to either activation or inhibition of adenylate cyclase and cAMP-dependent signaling (PubMed:35274137). Activation occurs when opsin-bound cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers a G protein-mediated phototransduction cascade (PubMed:15674244). Acts as a bistable protein, allowing photoreversible regeneration of the cis-retinal chromophore after stimulation (PubMed:15674244). Contributes to non-image-forming visual response to light in ipRGCs, including the pupillary light reflex and the regulation of circadian rhythms (By similarity). In M1 ipRGCs (non-image forming) subtypes, activates a G(q)-phospholipase C (PLC) signaling cascade leading to depolarization through opening of TRPC6/7 channels and decreased intrisic excitability (By similarity). Mediates phototransduction in M4 ipRGCs (image forming) subtypes across dim to bright light conditions via G(q)-PLC signaling, resulting in increased intrisic excitability through closure of potassium leak channels (most likely TASK channels), thereby enhancing contrast sensitivity (By similarity). At bright light intensities, further enhances depolarization in M4 ipRGCs via activation of TRPC channels (By similarity). May be involved in the optokinetic visual tracking response. May also play a role in regulating retinal hyaloid vessel growth and regression (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; In contrast with isoform 1, cannot activate G(i/o) and G(s) family of G proteins in response to light., [UniProtKB, PubMed]; Melanopsin (Opn4) is an oncogene in cutaneous melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; Melanopsin in the human and chicken choroid., [RefSeq, PubMed]; Melanopsin-mediated amplification of cone signals in the human visual cortex., [RefSeq, PubMed]; Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; The melanopsin-mediated pupil response is reduced in idiopathic hypersomnia with long sleep time. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7ZLB3;Q14D01;Q2PP22;Q8NGQ9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005502 11-cis retinal binding;GO:0008020 G protein-coupled photoreceptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0030425 dendrite;GO:0043204 perikaryon", "go_biological_process": "GO:1990384 hyaloid vascular plexus regression;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9UHM6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH94-1", "uniprot_id": [ { "id": "OR1L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH94", "type": "external" } ], "mass": 41046.0, "length": 360, "protein_name": "Olfactory receptor 1L1", "gene_name": "OR1L1", "organism": "Human", "refseq_name": "olfactory receptor 1L1", "refseq_ac": [ { "id": "NP_001005236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005236", "type": "external" } ], "gene_names_uniprotkb": "OR1L1; OR1L2", "gene_names_refseq": "HG23; OR1L1; OR1L2; OR9-27; OR9-C", "protein_names_uniprotkb": "Olfactory receptor 1L1; OR9-C; Olfactory receptor 1L2; Olfactory receptor 9-C; Olfactory receptor OR9-27", "protein_names_refseq": "olfactory receptor 1L1; olfactory receptor 1L2; olfactory receptor 9-C; olfactory receptor OR9-27; olfactory receptor, family 1, subfamily L, member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26737); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11237011;14983052;24800820;27515280;29557506;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5T7Z3;Q6IFN2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NH94-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NF37-1", "uniprot_id": [ { "id": "PCAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NF37", "type": "external" } ], "mass": 59151.0, "length": 534, "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "LPCAT1", "organism": "Human", "refseq_name": "lysophosphatidylcholine acyltransferase 1", "refseq_ac": [ { "id": "NP_079106", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079106", "type": "external" } ], "gene_names_uniprotkb": "LPCAT1; AYTL2; PFAAP3", "gene_names_refseq": "AGPAT10; AGPAT9; AYTL2; LPCAT-1; LPCAT1; LPLAT8; PFAAP3; lpcat; lysoPAFAT", "protein_names_uniprotkb": "Lysophosphatidylcholine acyltransferase 1; 1-acylglycerol-3-phosphate O-acyltransferase; 1-acylglycerophosphocholine O-acyltransferase; 1-alkenylglycerophosphocholine O-acyltransferase; 1-alkylglycerophosphocholine O-acetyltransferase; 2.3.1.23; 2.3.1.25; 2.3.1.51; 2.3.1.67; Acetyl-CoA:lyso-PAF acetyltransferase; Acetyl-CoA:lyso-platelet-activating factor acetyltransferase; Acyltransferase-like 2; LPC acyltransferase 1; LPCAT-1; Lyso-PAF acetyltransferase; LysoPAFAT; LysoPC acyltransferase 1; Phosphonoformate immuno-associated protein 3", "protein_names_refseq": "1-acylglycerol-3-phosphate O-acyltransferase; 1-acylglycerophosphocholine O-acyltransferase; 1-alkenylglycerophosphocholine O-acyltransferase; 1-alkylglycerophosphocholine O-acetyltransferase; LPC acyltransferase 1; acetyl-CoA:lyso-PAF acetyltransferase; acetyl-CoA:lyso-platelet-activating factor acetyltransferase; acyltransferase-like 2; lyso-PAF acetyltransferase; lysoPC acyltransferase 1; lysophosphatidylcholine acyltransferase 1; lysophospholipid acyltransferase 8; phosphonoformate immuno-associated protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:79888); (R-HSA-1482788); (R-HSA-1482925); (R-HSA-1483166); (R-HSA-1483191); (R-HSA-6798695)", "pathway_count": 6, "publication_count": 190, "publication_id_list": "10085124;10092647;10100195;10191259;10336645;10358058;10455175;10506173;10553003;10677542;10681567;10893425;11031251;11068039;11112443;11420179;11698453;11788596;11830583;12055623;12063250;12150957;12161451;12216837;12221122;12359733;12522102;12750860;12963729;14573790;14709560;14973250;15175005;15367102;15485873;15695510;15715662;15863501;15911624;15944408;1618844;16243729;16460752;16495223;16620771;16704971;16864775;17007874;17028579;17158099;17170135;17182612;17561512;17707131;18156367;18195019;18238778;18458083;18614531;18694939;18718904;18772128;18974965;19019078;1904318;19336658;19501189;19666841;19915674;20025994;20338778;20705608;21068446;21173190;21498505;21515882;21926997;22424782;22777291;22922100;23176821;23176823;23328280;23481700;23650620;23807634;23901139;24397554;24732803;24828044;24966474;25418920;25491198;25505266;25576301;25645385;26005868;26048993;26154972;26375851;26463208;26711011;26811146;26929215;26945070;26992070;27600516;27862975;27920218;28063628;28228285;28514659;28821867;28832583;28855257;28904123;29242379;2925608;29351928;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30315122;3057511;30779550;31092671;31154438;31217245;31844290;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34229054;34509645;34561969;3458202;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37300846;37495756;37875967;38551165;38665916;38671262;40596516;40914422;7060561;7821823;8083230;8163052;8186247;8300559;8530346;8687421;8692836;9188469;9212163;9417066;9461603;9582313;9593753;9705332", "class_list": "", "function": "Aytl2 gene is the phosphatidylcholine reacylating enzyme in RBCs; this represents the identification of a plasma membrane lysophospholipid acyltransferase and establishes the function of a LPCAT protein, [RefSeq, PubMed]; Biomarkers of ulcerative colitis disease activity CXCL1, CYP2R1, LPCAT1, and NEU4 and their relationship to immune infiltrates. Publication Status: Online-Only, [RefSeq, PubMed]; Exhibits acyltransferase activity (PubMed:18156367, PubMed:21498505). Exhibits acetyltransferase activity (By similarity). Activity is calcium-independent (By similarity). Catalyzes the conversion of lysophosphatidylcholine (1-acyl-sn-glycero-3-phosphocholine or LPC) into phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) (PubMed:18156367, PubMed:21498505). Catalyzes the conversion 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (By similarity). Displays a clear preference for saturated fatty acyl-CoAs, and 1-myristoyl or 1-palmitoyl LPC as acyl donors and acceptors, respectively (By similarity). Involved in platelet-activating factor (PAF) biosynthesis by catalyzing the conversion of the PAF precursor, 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) into 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (PAF) (By similarity). May synthesize phosphatidylcholine in pulmonary surfactant, thereby playing a pivotal role in respiratory physiology (By similarity). Involved in the regulation of lipid droplet number and size (PubMed:25491198)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; LPCAT1 may contribute to total choline metabolite accumulation via phosphatidylcholine remodeling, thereby altering the CRC lipid profile, a characteristic of malignancy., [RefSeq, PubMed]; LPCAT1 promotes melanoma cell proliferation via Akt signaling., [RefSeq, PubMed]; LPCAT1-mediated membrane phospholipid remodelling promotes ferroptosis evasion and tumour growth., [RefSeq, PubMed]; LncRNA AC012360.1 facilitates growth and metastasis by regulating the miR-139-5p/LPCAT1 axis in hepatocellular carcinoma., [RefSeq, PubMed]; Nuclear respiratory factor 1 drives hepatocellular carcinoma progression by activating LPCAT1-ERK1/2-CREB axis. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity., [UniProtKB, UniProtKB]; This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q1HAQ1;Q7Z4G6;Q8N3U7;Q8WUL8;Q9GZW6", "ec_number_list": [ { "id": "3.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.25", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "1.11.1.27", "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": "3.4.16.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.2", "type": "external" }, { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "type": "external" }, { "id": "2.3.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.15", "type": "external" }, { "id": "2.3.1.121", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.121", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.n6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n6", "type": "external" }, { "id": "2.3.1.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n7", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "2.3.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.22", "type": "external" }, { "id": "2.3.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.62", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" } ], "go_molecular_function": "GO:0047144 2-acylglycerol-3-phosphate O-acyltransferase activity;GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity;GO:0042171 lysophosphatidic acid acyltransferase activity;GO:0005509 calcium ion binding;GO:0047184 1-acylglycerophosphocholine O-acyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005811 lipid droplet;GO:0005886 plasma membrane", "go_biological_process": "GO:0036148 phosphatidylglycerol acyl-chain remodeling;GO:0006654 phosphatidic acid biosynthetic process;GO:0036151 phosphatidylcholine acyl-chain remodeling;GO:0008654 phospholipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 19.4, "record_id": "Q8NF37-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NHN0-1", "uniprot_id": [ { "id": "OTOL1_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NHN0", "type": "external" } ], "mass": 49422.0, "length": 477, "protein_name": "Otolin-1", "gene_name": "OTOL1", "organism": "Human", "refseq_name": "otolin-1 precursor", "refseq_ac": [ { "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909", "type": "external" } ], "gene_names_uniprotkb": "OTOL1", "gene_names_refseq": "C1QTNF15; C1QTNF16; OTOL1", "protein_names_uniprotkb": "Otolin-1", "protein_names_refseq": "C1q and TNF related 16; C1q and tumor necrosis factor related protein 15; otolin-1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:131149)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "15905077;18491316;24748133;34087483;34445792;35051231;35447266;36254652;39456211", "class_list": "", "function": "A potential serological biomarker for inner ear pathologies: OTOLIN-1., [RefSeq, PubMed]; Calcium carbonate crystal growth data demonstrate that Otolin-1 and OC90 modulate in vitro calcite crystal morphology but neither protein is sufficient to produce the shape of otoconia Publication Status: Online-Only, [RefSeq, PubMed]; Collagen-like protein specifically expressed in the inner ear, which provides an organic scaffold for otoconia, a calcium carbonate structure in the saccule and utricle of the ear. Acts as a scaffold for biomineralization: sequesters calcium and forms interconnecting fibrils between otoconia that are incorporated into the calcium crystal structure. Together with OC90, modulates calcite crystal morphology and growth kinetics., [UniProtKB, UniProtKB]; Identification and functional characterization of a similar protein in zebrafish., [RefSeq, PubMed]; N'-terminal- and Ca(2+)-induced stabilization of high-order oligomers of full-length Danio rerio and Homo sapiens otolin-1., [RefSeq, PubMed]; Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1. Publication Status: Online-Only, [RefSeq, PubMed]; Serum Otoconin-90 and Otolin-1 Concentrations in Benign Paroxysmal Positional Vertigo. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expressed in the inner ear and forms a multimeric complex called the otoconia, together with cerebellin-1 and otoconin-90, as part of the otoconial membrane. It contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Naturally occurring mutations in this gene are associated with abnormal otoconia formation and balance deficits resulting from vestibular dysfunction. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 2, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0051260 protein homooligomerization;GO:0045299 otolith mineralization", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A6NHN0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21810-1", "uniprot_id": [ { "id": "PGS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P21810", "type": "external" } ], "mass": 41654.0, "length": 368, "protein_name": "Biglycan", "gene_name": "BGN", "organism": "Human", "refseq_name": "biglycan preproprotein", "refseq_ac": [ { "id": "NP_001702", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001702", "type": "external" } ], "gene_names_uniprotkb": "BGN; SLRR1A", "gene_names_refseq": "BGN; DSPG1; MRLS; PG-S1; PGI; SEMDX; SLRR1A", "protein_names_uniprotkb": "Biglycan; Bone/cartilage proteoglycan I; PG-S1", "protein_names_refseq": "biglycan preproprotein; bone/cartilage proteoglycan-I; dermatan sulphate proteoglycan I; small leucine-rich protein 1A", "tax_id": 9606, "disease": "Meester-Loeys syndrome (Disease Ontology:DOID:0111861); X-linked spondyloepimetaphyseal dysplasia (Disease Ontology:DOID:0112150); stomach cancer (Disease Ontology:DOID:10534)", "pathway": " (hsa:633); (R-HSA-1971475); (R-HSA-2022870); (R-HSA-2022923); (R-HSA-2024101); (R-HSA-3000178); (R-HSA-3560783); (R-HSA-3560801); (R-HSA-3595172); (R-HSA-3595174); (R-HSA-3595177); (R-HSA-4420332)", "pathway_count": 12, "publication_count": 160, "publication_id_list": "10022829;10187838;10339581;10339611;10473568;10506123;10673326;10781596;10781601;10842173;10854409;10963998;11056388;11084047;11099377;11139592;11145959;11152692;11237011;11259413;11414686;11470797;11514575;11551958;11568288;11788602;11877387;12080076;12145278;12163485;12225811;12512856;12522689;12556911;12761225;12874280;12888274;12907687;1376317;14715956;14993226;15075323;15211654;15215498;15294915;15296743;1544908;15461586;15647514;16293224;16493581;16505484;16959974;17194707;17227754;17588949;18316376;18513679;1860845;18698629;1907800;19159218;19188366;19224584;1928092;1946389;19473117;19661164;19889881;20004762;20533528;2059554;20691685;20830804;21129727;21129728;2122463;21642437;21763480;21789315;22134916;22810237;23090970;2364322;23656592;23664117;23664118;23704329;2412224;24190977;2420006;2430969;24425863;24443026;25521717;2590169;25936869;2647739;27236923;27599773;27632686;27893789;28904123;29514872;29557506;2971395;29741879;29789417;30429286;30459171;31154438;3134052;31844290;32157095;32337544;33141586;33592498;3468507;35318648;35580925;3597437;36284347;36305810;36371672;36377223;37074911;37128782;37938771;38665916;5822067;6193777;6439184;738706;7499434;7527058;7542669;7559467;7628016;7685013;7693733;7852349;7881444;8002934;8064814;8213840;8440685;8798654;8943283;9223416;9252349;9294172;9341124;9346959;9506957;9521684;9685393;9823490;9883891;9892646;9949188", "class_list": "glycogene", "function": "Biglycan promotes hepatic fibrosis through activating heat shock protein 47., [RefSeq, PubMed]; Identification of BGN and THBS2 as metastasis-specific biomarkers and poor survival key regulators in human colon cancer by integrated analysis., [RefSeq, PubMed]; Long noncoding RNA ZEB1-AS1 attenuates ferroptosis of gastric cancer cells through modulating miR-429/BGN axis., [RefSeq, PubMed]; May be involved in collagen fiber assembly., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Stroma biglycan expression can be a prognostic factor in prostate cancers., [RefSeq, PubMed]; This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in bone growth, muscle development and regeneration, and collagen fibril assembly in multiple tissues. This protein may also regulate inflammation and innate immunity. Additionally, the encoded protein may contribute to atherosclerosis and aortic valve stenosis in human patients. This gene and the related gene decorin are thought to be the result of a gene duplication. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 0, "mined_o_glycosites": 3, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 401, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 276, "disease_count": 3, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "D3DWU3;P13247", "ec_number_list": [], "go_molecular_function": "GO:0050840 extracellular matrix binding;GO:0019955 cytokine binding;GO:0005539 glycosaminoglycan binding;GO:0005201 extracellular matrix structural constituent;GO:0030021 extracellular matrix structural constituent conferring compression resistance", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0001974 blood vessel remodeling", "synthesized_glycan_count": 0, "hit_score": 44.4, "record_id": "P21810-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100010001000.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48539-1", "uniprot_id": [ { "id": "PCP4_HUMAN", "url": "https://www.uniprot.org/uniprot/P48539", "type": "external" } ], "mass": 6791.0, "length": 62, "protein_name": "Calmodulin regulator protein PCP4", "gene_name": "PCP4", "organism": "Human", "refseq_name": "calmodulin regulator protein PCP4", "refseq_ac": [ { "id": "NP_006189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006189", "type": "external" } ], "gene_names_uniprotkb": "PCP4; PEP19", "gene_names_refseq": "PCP4; PEP-19", "protein_names_uniprotkb": "Calmodulin regulator protein PCP4; Brain-specific polypeptide PEP-19; Purkinje cell protein 4", "protein_names_refseq": "brain specific polypeptide PEP19; brain-specific antigen PCP-4; brain-specific polypeptide PEP-19; calmodulin regulator protein PCP4", "tax_id": 9606, "disease": "leiomyoma (Disease Ontology:DOID:127); Huntington's disease (Disease Ontology:DOID:12858); status epilepticus (Disease Ontology:DOID:1824)", "pathway": " (hsa:5121)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;14551202;19106096;21491429;23204517;27876793;29557506;30744532;32641824;35030971;37302034;8914602;8931698", "class_list": "", "function": "Circ_0019693 promotes osteogenic differentiation of bone marrow mesenchymal stem cell and enhances osteogenesis-coupled angiogenesis via regulating microRNA-942-5p-targeted purkinje cell protein 4 in the development of osteoporosis., [RefSeq, PubMed]; Compared to other CaM regulatory proteins, PCP4/PEP-19 transcripts were more abundant in human myometrium. The expression of PCP4/PEP-19 was lowest in myometrium of women with preterm pregnancy and chorioamnionitis., [RefSeq, PubMed]; Functions as a modulator of calcium-binding by calmodulin. Thereby, regulates calmodulin activity and the different processes it controls (PubMed:19106096, PubMed:23204517, PubMed:27876793). For instance, may play a role in neuronal differentiation through activation of calmodulin-dependent kinase signaling pathways (PubMed:21491429)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; PCP4 Promotes Alzheimer's Disease Pathogenesis by Affecting Amyloid-beta Protein Precursor Processing., [RefSeq, PubMed]; PCP4/PEP19 downregulates neurite outgrowth via transcriptional regulation of Ascl1 and NeuroD1 expression in human neuroblastoma M17 cells., [RefSeq, PubMed]; PEP-19 has the potential to alter the Ca2+-binding dynamics of free CaM and CaM that is bound to other target proteins, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "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": "A6NDJ9;Q6ICS4;Q93059", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0045666 positive regulation of neuron differentiation;GO:1905291 positive regulation of CAMKK-AMPK signaling cascade", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P48539-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTY7-1", "uniprot_id": [ { "id": "OVCH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTY7", "type": "external" } ], "mass": 125012.0, "length": 1134, "protein_name": "Ovochymase-1", "gene_name": "OVCH1", "organism": "Human", "refseq_name": "ovochymase-1 precursor", "refseq_ac": [ { "id": "NP_001340108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001340108", "type": "external" } ], "gene_names_uniprotkb": "OVCH1", "gene_names_refseq": "OVCH1; OVCH", "protein_names_uniprotkb": "Ovochymase-1; 3.4.21.-", "protein_names_refseq": "ovochymase-1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:341350)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;12838346;19615748;30237853;37217939", "class_list": "", "function": "", "predicted_glycosites": 7, "predicted_n_glycosites": 6, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 24, "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": "H0YH00", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis;GO:0009566 fertilization", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q7RTY7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15259-1", "uniprot_id": [ { "id": "PGAM2_HUMAN", "url": "https://www.uniprot.org/uniprot/P15259", "type": "external" } ], "mass": 28766.0, "length": 253, "protein_name": "Phosphoglycerate mutase 2", "gene_name": "PGAM2", "organism": "Human", "refseq_name": "phosphoglycerate mutase 2", "refseq_ac": [ { "id": "NP_000281", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000281", "type": "external" } ], "gene_names_uniprotkb": "PGAM2; PGAMM", "gene_names_refseq": "GSD10; PGAM-M; PGAM2; PGAMM", "protein_names_uniprotkb": "Phosphoglycerate mutase 2; 5.4.2.11; 5.4.2.4; BPG-dependent PGAM 2; Muscle-specific phosphoglycerate mutase; PGAM-M; Phosphoglycerate mutase isozyme M", "protein_names_refseq": "BPG-dependent PGAM 2; muscle-specific phosphoglycerate mutase; phosphoglycerate mutase 2 (muscle); phosphoglycerate mutase 2; phosphoglycerate mutase isozyme M", "tax_id": 9606, "disease": "glycogen storage disease X (Disease Ontology:DOID:0061285); myoglobinuria (Disease Ontology:DOID:0080108)", "pathway": " (hsa:5224); (R-HSA-70171); (R-HSA-70263)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "10229653;10545043;10714828;11371164;11506403;11780755;11851336;12093795;12437512;12616532;1278465;12965206;12965222;13538944;14718531;14722102;15710582;16511037;17804405;18337460;183598;18449899;18613815;1871135;18910716;18910717;18927083;19118303;19651622;2145198;21949678;22219026;23168256;23446454;23506893;2462567;24786789;2549058;25576301;25648650;26758079;2793178;2822696;2846554;28649982;28855257;29242379;29314611;2960695;29632711;30517626;30524438;30573663;31154438;3170585;31844290;3208766;32350084;32387766;3355497;3453121;34782236;35051231;3529090;36215666;37676279;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7573034;7717389;7825568;7989588;8117307;8211187;8325892;8447317;8571957;8645161;8786021;9382095;9428641;9438414;9493266;9585002;9657976;9678974;9758626", "class_list": "", "function": "Catalyzes the interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the interconversion of (2R)-2,3-bisphosphoglycerate and (2R)-3-phospho-glyceroyl phosphate, but with a reduced activity., [UniProtKB, UniProtKB]; Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]., [RefSeq]; Targeting the Metabolic Enzyme PGAM2 Overcomes Enzalutamide Resistance in Castration-Resistant Prostate Cancer by Inhibiting BCL2 Signaling., [RefSeq, PubMed]; These results reveal a mechanism of PGAM2 regulation and NADPH homeostasis in response to oxidative stress that impacts cell proliferation and tumor growth., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "5.4.2.11", "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" } ], "go_molecular_function": "GO:0004082 bisphosphoglycerate mutase activity;GO:0004619 phosphoglycerate mutase activity;GO:0016787 hydrolase activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:1990917 ooplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0006094 gluconeogenesis;GO:0006096 glycolytic process;GO:0006941 striated muscle contraction;GO:0061621 canonical glycolysis", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P15259-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20941-1", "uniprot_id": [ { "id": "PHOS_HUMAN", "url": "https://www.uniprot.org/uniprot/P20941", "type": "external" } ], "mass": 28246.0, "length": 246, "protein_name": "Phosducin", "gene_name": "PDC", "organism": "Human", "refseq_name": "phosducin isoform a", "refseq_ac": [ { "id": "NP_002588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002588", "type": "external" } ], "gene_names_uniprotkb": "PDC", "gene_names_refseq": "MEKA; PDC; PHD; PhLOP; PhLP", "protein_names_uniprotkb": "Phosducin; 33 kDa phototransducing protein; PHD; Protein MEKA", "protein_names_refseq": "33 kDa phototransducing protein; G beta gamma binding protein; phosducin isoform a; phosducin-like orphan protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:5132)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10360181;10866677;11331285;15485848;1659528;17569665;19959875;20804785;21191291;2210381;22365573;23199924;2383274;2394752;25153685;35051231;35494241;37217939;9020189", "class_list": "", "function": "Candidate gene-based association studies in 2 different populations revealed several SNPs in the PDC gene to be associated with stress-dependent blood pressure phenotypes. Erratum:[J Clin Invest. 2011 Jan 4;121(1):454. Lorkowski, Stefan [added]], [RefSeq, PubMed]; Data suggest that phosducin rs12402521 polymorphism is an important genetic predictor of obesity-related hypertension., [RefSeq, PubMed]; Data suggest that the existence of a common epitope on the molecules of phosducin and beta-actin may reflect a topological similarity of a small region of their surfaces., [RefSeq, PubMed]; Identification of Pdc as a gene for stress-induced hypertension offers new insights into the relationship between sympathetic nervous system activation, blood pressure regulation and genetic factors Review article, [RefSeq, PubMed]; May participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. Inhibits the transcriptional activation activity of the cone-rod homeobox CRX., [UniProtKB, PubMed]; Phosducin regulates secretory activity in TT line of thyroid parafollicular C cells., [RefSeq, PubMed]; This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "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": "Q14816;Q9UP22;Q9UP23", "ec_number_list": [], "go_molecular_function": "GO:0004859 phospholipase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0001917 photoreceptor inner segment;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007601 visual perception;GO:0007602 phototransduction;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P20941-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35354-1", "uniprot_id": [ { "id": "PGH2_HUMAN", "url": "https://www.uniprot.org/uniprot/P35354", "type": "external" } ], "mass": 68996.0, "length": 604, "protein_name": "Prostaglandin G/H synthase 2", "gene_name": "PTGS2", "organism": "Human", "refseq_name": "prostaglandin G/H synthase 2 precursor", "refseq_ac": [ { "id": "NP_000954", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000954", "type": "external" } ], "gene_names_uniprotkb": "PTGS2; COX2", "gene_names_refseq": "COX-2; COX2; GRIPGHS; PGG/HS; PGHS-2; PHS-2; PTGS2; hCox-2", "protein_names_uniprotkb": "Prostaglandin G/H synthase 2; 1.14.99.1; COX-2; Cyclooxygenase-2; PGH synthase 2; PGHS-2; PHS II; Prostaglandin H2 synthase 2; Prostaglandin-endoperoxide synthase 2", "protein_names_refseq": "PGH synthase 2; PHS II; cyclooxygenase 2b; prostaglandin G/H synthase 2 precursor; prostaglandin H2 synthase 2; prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); obstructive sleep apnea (Disease Ontology:DOID:0050848); stroke (Disease Ontology:DOID:0051061); ductal carcinoma in situ (Disease Ontology:DOID:0060074); colitis (Disease Ontology:DOID:0060180); polycystic kidney disease (Disease Ontology:DOID:0080322); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); Parkinsonism (Disease Ontology:DOID:0080855); pleurisy (Disease Ontology:DOID:10247); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); meconium aspiration syndrome (Disease Ontology:DOID:11049); urinary bladder cancer (Disease Ontology:DOID:11054); prostatic hypertrophy (Disease Ontology:DOID:11132); sarcoidosis (Disease Ontology:DOID:11335); nephrotic syndrome (Disease Ontology:DOID:1184); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949); esophagitis (Disease Ontology:DOID:11963); secondary hyperparathyroidism (Disease Ontology:DOID:12466); Huntington's disease (Disease Ontology:DOID:12858); cardiovascular system disease (Disease Ontology:DOID:1287); lung cancer (Disease Ontology:DOID:1324); prostatitis (Disease Ontology:DOID:14654); cystic fibrosis (Disease Ontology:DOID:1485); cystitis (Disease Ontology:DOID:1679); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); nephroblastoma (Disease Ontology:DOID:2154); brain ischemia (Disease Ontology:DOID:2316); arteriosclerosis (Disease Ontology:DOID:2349); Wernicke encephalopathy (Disease Ontology:DOID:2384); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); adenocarcinoma (Disease Ontology:DOID:299); granulosa cell tumor (Disease Ontology:DOID:2999); acute kidney failure (Disease Ontology:DOID:3021); glioblastoma (Disease Ontology:DOID:3068); gliosarcoma (Disease Ontology:DOID:3071); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); demyelinating disease (Disease Ontology:DOID:3213); bipolar disorder (Disease Ontology:DOID:3312); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); gastritis (Disease Ontology:DOID:4029); systemic scleroderma (Disease Ontology:DOID:418); renal cell carcinoma (Disease Ontology:DOID:4450); avian influenza (Disease Ontology:DOID:4492); retrograde amnesia (Disease Ontology:DOID:4543); esophagus adenocarcinoma (Disease Ontology:DOID:4914); cholangiocarcinoma (Disease Ontology:DOID:4947); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); prolactinoma (Disease Ontology:DOID:5394); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); growth hormone secreting pituitary adenoma (Disease Ontology:DOID:6255); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); osteoarthritis (Disease Ontology:DOID:8398); intestinal obstruction (Disease Ontology:DOID:8437); ulcerative colitis (Disease Ontology:DOID:8577); prostate carcinoma in situ (Disease Ontology:DOID:8634); in situ carcinoma (Disease Ontology:DOID:8719); Crohn's disease (Disease Ontology:DOID:8778); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); Barrett's esophagus (Disease Ontology:DOID:9206); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); pulmonary emphysema (Disease Ontology:DOID:9675); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:5743); (R-HSA-2142770); (R-HSA-2162123); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-9018677); (R-HSA-9018679); (R-HSA-9025094); (R-HSA-9027604)", "pathway_count": 9, "publication_count": 256, "publication_id_list": "10.1101/2023.09.13.557529;10023775;10092818;10219247;10369418;10377455;10415057;10433356;10510379;10586089;10622721;10867011;10922363;10966456;11034610;11058569;11084045;11104795;11120780;11192938;11237011;11258925;11278437;11278729;11297515;11356008;11404481;11463377;11465543;11672424;11839751;11939906;11960372;12223527;12242343;12391014;12554859;12590139;12600988;12626585;12627223;12832402;12835322;1380156;1460289;14634100;14712222;14979715;15047184;15115769;15116091;15261459;15308583;15584925;15589595;15805299;15869882;15919823;15950906;16007214;16048438;16107692;16205632;16236134;16365029;16373578;16397018;16424216;16451196;16475787;16482563;16510571;16540365;16606674;1662607;16828555;16982608;17055291;17113084;17244615;17427945;17449869;17458857;17519235;17572495;17641676;17662651;18006499;18243101;18353781;18447642;18493841;18570379;18644974;18682561;19000823;19103881;19124156;19185846;19347867;19397496;1940369;1940799;19540099;20036328;20145033;20436486;20493732;20667974;20950588;21102457;21206090;21252155;21467029;2147774;21689689;21730069;21937440;21994466;22046235;22068350;22205702;22245433;22383755;22693070;22851691;22942274;23086340;23124025;23172665;23455323;23504711;23555662;23967200;24097101;24142638;24605250;24736647;24743777;2501828;25036362;25234944;25576301;25892735;26236990;26282205;26580578;26859324;26878209;27226593;27642067;27704804;27710942;27846572;29393594;29557506;29741879;29769354;30833945;31844290;32157095;32161166;32488085;32983136;33043033;33141586;33298915;33968037;34171305;35051231;35580925;36241641;36284347;37074911;38612478;3862115;38631491;38713190;38778047;38967364;3954355;4514999;4521806;4776443;5284360;7005231;7510216;7512027;7512451;7516408;7529288;7543512;7552725;7568157;7592599;7593617;7594602;7684412;7687627;7795521;7796300;7898939;7902377;7907877;7925341;7945196;7947975;8063757;8085155;8102388;8120391;8163946;8175750;8181472;8186324;8301137;8334154;8473346;8537680;8602263;8621622;8662928;8663118;8668165;8734788;8742066;8797861;8816495;8847485;8871669;8897595;8901870;8910398;8921438;8946277;9013879;9013939;9048568;9126611;9139685;9219313;9261177;9312047;9354687;9449724;9545330;9550426;9626023;9651359;9723655;9736340;9794440;9822675;9836587;9874564;9918218", "class_list": "", "function": "Association between vertebral endplate defects and patient-reported symptoms: an immunohistochemical study investigating the COX-2/PGE-2/EP-4 axis., [RefSeq, PubMed]; Breast volume in non-obese females is related to breast adipose cell hypertrophy, inflammation, and COX2 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Dual cyclooxygenase and peroxidase in the biosynthesis pathway of prostanoids, a class of C20 oxylipins mainly derived from arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate, AA, C20:4(n-6)), with a particular role in the inflammatory response (PubMed:11939906, PubMed:16373578, PubMed:19540099, PubMed:22942274, PubMed:26859324, PubMed:27226593, PubMed:7592599, PubMed:7947975, PubMed:9261177). The cyclooxygenase activity oxygenates AA to the hydroperoxy endoperoxide prostaglandin G2 (PGG2), and the peroxidase activity reduces PGG2 to the hydroxy endoperoxide prostaglandin H2 (PGH2), the precursor of all 2-series prostaglandins and thromboxanes (PubMed:16373578, PubMed:22942274, PubMed:26859324, PubMed:27226593, PubMed:7592599, PubMed:7947975, PubMed:9261177). This complex transformation is initiated by abstraction of hydrogen at carbon 13 (with S-stereochemistry), followed by insertion of molecular O2 to form the endoperoxide bridge between carbon 9 and 11 that defines prostaglandins. The insertion of a second molecule of O2 (bis-oxygenase activity) yields a hydroperoxy group in PGG2 that is then reduced to PGH2 by two electrons (PubMed:16373578, PubMed:22942274, PubMed:26859324, PubMed:27226593, PubMed:7592599, PubMed:7947975, PubMed:9261177). Similarly catalyzes successive cyclooxygenation and peroxidation of dihomo-gamma-linoleate (DGLA, C20:3(n-6)) and eicosapentaenoate (EPA, C20:5(n-3)) to corresponding PGH1 and PGH3, the precursors of 1- and 3-series prostaglandins (PubMed:11939906, PubMed:19540099). In an alternative pathway of prostanoid biosynthesis, converts 2-arachidonoyl lysophopholipids to prostanoid lysophopholipids, which are then hydrolyzed by intracellular phospholipases to release free prostanoids (PubMed:27642067). Metabolizes 2-arachidonoyl glycerol yielding the glyceryl ester of PGH2, a process that can contribute to pain response (PubMed:22942274). Generates lipid mediators from n-3 and n-6 polyunsaturated fatty acids (PUFAs) via a lipoxygenase-type mechanism. Oxygenates PUFAs to hydroperoxy compounds and then reduces them to corresponding alcohols (PubMed:11034610, PubMed:11192938, PubMed:9048568, PubMed:9261177). Plays a role in the generation of resolution phase interaction products (resolvins) during both sterile and infectious inflammation (PubMed:12391014). Metabolizes docosahexaenoate (DHA, C22:6(n-3)) to 17R-HDHA, a precursor of the D-series resolvins (RvDs) (PubMed:12391014). As a component of the biosynthetic pathway of E-series resolvins (RvEs), converts eicosapentaenoate (EPA, C20:5(n-3)) primarily to 18S-HEPE that is further metabolized by ALOX5 and LTA4H to generate 18S-RvE1 and 18S-RvE2 (PubMed:21206090). In vascular endothelial cells, converts docosapentaenoate (DPA, C22:5(n-3)) to 13R-HDPA, a precursor for 13-series resolvins (RvTs) shown to activate macrophage phagocytosis during bacterial infection (PubMed:26236990). In activated leukocytes, contributes to oxygenation of hydroxyeicosatetraenoates (HETE) to diHETES (5,15-diHETE and 5,11-diHETE) (PubMed:22068350, PubMed:26282205). Can also use linoleate (LA, (9Z,12Z)-octadecadienoate, C18:2(n-6)) as substrate and produce hydroxyoctadecadienoates (HODEs) in a regio- and stereospecific manner, being (9R)-HODE ((9R)-hydroxy-(10E,12Z)-octadecadienoate) and (13S)-HODE ((13S)-hydroxy-(9Z,11E)-octadecadienoate) its major products (By similarity). During neuroinflammation, plays a role in neuronal secretion of specialized preresolving mediators (SPMs) 15R-lipoxin A4 that regulates phagocytic microglia (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Integration of single-cell RNA sequencing of endothelial cells and proteomics to unravel the role of ICAM1-PTGS2 communication in apical periodontitis: A laboratory investigation., [RefSeq, PubMed]; Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009]., [RefSeq]; RUNX1-induced upregulation of PTGS2 enhances cell growth, migration and invasion in colorectal cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Rel Family Transcription Factor NFAT5 Upregulates COX2 via HIF-1alpha Activity in Ishikawa and HEC1a Cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 6, "mined_n_glycosites": 5, "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": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 8818, "biomarker_type": "prognostic", "glycan_count": 16, "disease_count": 76, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K802;Q16876", "ec_number_list": [ { "id": "1.14.99.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "5.3.99.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.5", "type": "external" }, { "id": "5.3.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.4", "type": "external" } ], "go_molecular_function": "GO:0016701 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen;GO:0004666 prostaglandin-endoperoxide synthase activity;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005789 endoplasmic reticulum membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0045429 positive regulation of nitric oxide biosynthetic process;GO:0050873 brown fat cell differentiation;GO:0008217 regulation of blood pressure;GO:0010575 positive regulation of vascular endothelial growth factor production", "synthesized_glycan_count": 0, "hit_score": 27.7, "record_id": "P35354-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.1000110000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13258-1", "uniprot_id": [ { "id": "PD2R_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13258", "type": "external" } ], "mass": 40271.0, "length": 359, "protein_name": "Prostaglandin D2 receptor", "gene_name": "PTGDR", "organism": "Human", "refseq_name": "prostaglandin D2 receptor isoform 1", "refseq_ac": [ { "id": "NP_000944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000944", "type": "external" } ], "gene_names_uniprotkb": "PTGDR", "gene_names_refseq": "AS1; ASRT1; DP1; DP; PTGDR1; PTGDR", "protein_names_uniprotkb": "Prostaglandin D2 receptor; PGD receptor; PGD2 receptor; Prostanoid DP receptor", "protein_names_refseq": "PGD2 receptor; prostaglandin D2 receptor isoform 1", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); respiratory system disease (Disease Ontology:DOID:1579); asthma (Disease Ontology:DOID:2841); pulmonary hypertension (Disease Ontology:DOID:6432); allergic asthma (Disease Ontology:DOID:9415); asthma-related traits, susceptibility to, 1 (MONDO:MONDO:0011805)", "pathway": " (hsa:5729); (R-HSA-391908); (R-HSA-418555)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10036181;10634944;11007482;11082108;11740958;12036966;12058044;12106601;12180353;12222762;12466225;12519077;12860470;13549488;14671004;1517224;15464062;15496624;15765929;15769620;15951850;16313925;16687412;16923326;17168849;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2171039;2417744;24190977;24687066;2491850;2553411;2553705;26417854;2871555;28832583;29242379;29443750;29557506;29602314;30429286;30833991;3127824;31279028;31399091;31983287;32226383;32334026;32497535;32540603;32618402;32715661;33049737;33091337;34750492;36916084;37805663;6085243;6302737;7532011;7642548;7883006;8078484;8117308;8163486;8253813;8300593;8340388;8514797;8672451;9263355;9417641;9462300;9651336", "class_list": "", "function": "ATP2B1-AS1 exacerbates sepsis-induced cell apoptosis and inflammation by regulating miR-23a-3p/TLR4 axis. Publication Status: Online-Only, [RefSeq, PubMed]; GGA3 interacts with L-type prostaglandin D synthase and regulates the recycling and signaling of the DP1 receptor for prostaglandin D2 in a Rab4-dependent mechanism., [RefSeq, PubMed]; High PGD2 receptor 2 levels are associated with poor prognosis in colorectal cancer patients and induce VEGF expression in colon cancer cells and migration in a zebrafish xenograft model., [RefSeq, PubMed]; Receptor for prostaglandin D2 (PGD2). The activity of this receptor is mainly mediated by G(s) proteins that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP. A mobilization of calcium is also observed, but without formation of inositol 1,4,5-trisphosphate (By similarity). 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, UniProtKB, UniProtKB]; The ASH1L-AS1-ASH1L axis controls NME1-mediated activation of the RAS signaling in gastric cancer., [RefSeq, PubMed]; This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein is reported to be a receptor for prostaglandin D2, which is a mediator of allergic inflammation and allergic airway inflammation in asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "G3V5L3;Q13250;Q13251;Q1ZZ52", "ec_number_list": [], "go_molecular_function": "GO:0001785 prostaglandin J receptor activity;GO:0004956 prostaglandin D receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0071799 cellular response to prostaglandin D stimulus;GO:0043303 mast cell degranulation", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q13258-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15198-1", "uniprot_id": [ { "id": "PGFRL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15198", "type": "external" } ], "mass": 41861.0, "length": 375, "protein_name": "Platelet-derived growth factor receptor-like protein", "gene_name": "PDGFRL", "organism": "Human", "refseq_name": "platelet-derived growth factor receptor-like protein precursor", "refseq_ac": [ { "id": "NP_006198", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006198", "type": "external" } ], "gene_names_uniprotkb": "PDGFRL; PRLTS", "gene_names_refseq": "PDGFRL; PDGRL; PRLTS", "protein_names_uniprotkb": "Platelet-derived growth factor receptor-like protein; PDGF receptor beta-like tumor suppressor; PDGFR-like protein", "protein_names_refseq": "PDGF receptor beta-like tumor suppressor; PDGFR-like protein; platelet-derived growth factor receptor-like protein precursor; platelet-derived growth factor receptor-like protein; platelet-derived growth factor-beta-like tumor suppressor", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:5157)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19815557;20333786;22926996;23944365;28832583;29741879;30429286;31530632;32350084;33592498;33968037;33981976;7898930", "class_list": "", "function": "Data indicate the association between SNP rs17633132:C/T in PDGFRL with Behcet disease and suggest that the PDGFRL gene may be involved in Behcet disease by modulating its transcription., [RefSeq, PubMed]; Results indicate that PDGFRL functions as a tumor suppressor, inhibiting the growth of colorectal cancer cells., [RefSeq, PubMed]; Review elucidates the role of tumor stroma interactions, the roles of PDGF receptor signaling in cancer-associated fibroblasts via alteration of stromal matrix composition and the mitogenic effects of cancer-derived PDGFs. Review article, [RefSeq, PubMed]; This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K085;Q6FH04", "ec_number_list": [], "go_molecular_function": "GO:0004992 platelet activating factor receptor activity;GO:0005019 platelet-derived growth factor beta-receptor activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q15198-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6TGC4-1", "uniprot_id": [ { "id": "PADI6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6TGC4", "type": "external" } ], "mass": 77727.0, "length": 694, "protein_name": "Inactive protein-arginine deiminase type-6", "gene_name": "PADI6", "organism": "Human", "refseq_name": "inactive protein-arginine deiminase type-6", "refseq_ac": [ { "id": "NP_997304", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997304", "type": "external" } ], "gene_names_uniprotkb": "PADI6; PAD6", "gene_names_refseq": "OZEMA16; PADI6; PREMBL2; hPADVI", "protein_names_uniprotkb": "Inactive protein-arginine deiminase type-6; Peptidyl arginine deiminase-like protein; Peptidylarginine deiminase VI; Protein-arginine deiminase type VI; Protein-arginine deiminase type-6; hPADVI", "protein_names_refseq": "inactive protein-arginine deiminase type-6; peptidyl arginine deiminase, type VI; peptidyl arginine deiminase-like protein; peptidylarginine deiminase type 6; protein-arginine deiminase type-6", "tax_id": 9606, "disease": "oocyte/zygote/embryo maturation arrest 16 (MONDO:MONDO:1010200)", "pathway": " (hsa:353238); (R-HSA-3247509)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "11069618;12392711;12416996;15087120;15339660;15345777;15625577;15629448;17303166;18849993;22634725;27543614;27545678;29693651;29789417;30379171;31664658;31844290;32928291;33221824;34036456;34987164;35433708;36088419;36704355;37148315;37220902;37712067;37922900;38656308;39286527;39644447", "class_list": "", "function": "Case report: human early embryonic arrest in a consanguineous Chinese family caused by a novel missense variant of PADI6., [RefSeq, PubMed]; Cloning, gene organization and expression of peptidylarginine deiminase type 6., [RefSeq, PubMed]; Crystal structure of human peptidylarginine deiminase type VI (PAD6) provides insights into its inactivity. Publication Status: Online-Only, [RefSeq, PubMed]; Crystallographic determination of 14-3-3-sigma binding sites in the human peptidylarginine deiminase type VI., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Structural constituent of cytoplasmic lattices, which plays a key role in early embryonic development (PubMed:37922900). Cytoplasmic lattices consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos (PubMed:37922900). They are required to store maternal proteins critical for embryonic development, such as ribosomal proteins and proteins that control epigenetic reprogramming of the preimplantation embryo, and prevent their degradation or activation (PubMed:37922900). In contrast to other members of the family, does not show protein-arginine deiminase activity due to its inability to bind Ca(2+) (PubMed:38656308, PubMed:39286527)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]., [RefSeq]; This study is the first description of the human PADI6 gene and encoded protein, and the first step towards a better understanding of the coordinated regulation of PADI gene expression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "Q330K5;Q70SX3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0015631 tubulin binding;GO:0140094 structural constituent of cytoplasmic lattice", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005938 cell cortex;GO:0045111 intermediate filament cytoskeleton;GO:0060473 cortical granule", "go_biological_process": "GO:0051293 establishment of spindle localization;GO:0040016 embryonic cleavage;GO:0040019 positive regulation of embryonic development;GO:0044725 epigenetic programming in the zygotic pronuclei;GO:0140089 protein storage", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q6TGC4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L5N7-1", "uniprot_id": [ { "id": "PCAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L5N7", "type": "external" } ], "mass": 60208.0, "length": 544, "protein_name": "Lysophosphatidylcholine acyltransferase 2", "gene_name": "LPCAT2", "organism": "Human", "refseq_name": "lysophosphatidylcholine acyltransferase 2", "refseq_ac": [ { "id": "NP_060309", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060309", "type": "external" } ], "gene_names_uniprotkb": "LPCAT2; AGPAT11; AYTL1", "gene_names_refseq": "AGPAT11; AYTL1; LPCAT2; LPLAT9; LysoPAFAT", "protein_names_uniprotkb": "Lysophosphatidylcholine acyltransferase 2; 1-AGP acyltransferase 11; 1-AGPAT 11; 1-acylglycerol-3-phosphate O-acyltransferase 11; 1-acylglycerophosphocholine O-acyltransferase; 1-alkenylglycerophosphocholine O-acyltransferase; 1-alkylglycerophosphocholine O-acetyltransferase; 2.3.1.23; 2.3.1.25; 2.3.1.51; 2.3.1.67; Acetyl-CoA:lyso-PAF acetyltransferase; Acetyl-CoA:lyso-platelet-activating factor acetyltransferase; Acyltransferase-like 1; LPAAT-alpha; LPC acyltransferase 2; LPCAT-2; Lyso-PAF acetyltransferase; LysoPAFAT; LysoPC acyltransferase 2; Lysophosphatidic acid acyltransferase alpha", "protein_names_refseq": "1-AGP acyltransferase 11; 1-AGPAT 11; 1-acylglycerol-3-phosphate O-acyltransferase 11; 1-acylglycerophosphocholine O-acyltransferase; 1-alkenylglycerophosphocholine O-acyltransferase; 1-alkylglycerophosphocholine O-acetyltransferase; LPAAT-alpha; LPC acyltransferase 2; LPCAT-2; acetyl-CoA:lyso-PAF acetyltransferase; acetyl-CoA:lyso-platelet-activating factor acetyltransferase; acyl-CoA:lysophosphatidylcholine acyltransferase 2; acyltransferase-like 1; lyso-platelet-activating factor (PAF) acetyltransferase; lysoPC acyltransferase 2; lysophosphatidic acid acyltransferase alpha; lysophosphatidylcholine acyltransferase 2; lysophospholipid acyltransferase 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:54947); (R-HSA-1482788)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10085124;10092647;10336645;10358058;10455175;10681567;11031251;11112443;11237011;11830583;12150957;12161451;12359733;12522102;14709560;15695510;15863501;15944408;1618844;16243729;16704971;16864775;17182612;18195019;18458083;18614531;18772128;19019078;1904318;19501189;19651622;19913121;20363836;20628086;20663880;20705608;21048031;21498505;21515882;25411967;25491198;25645385;26463208;27452731;28228285;28411811;29242379;2925608;29331515;29557506;29786170;30429286;31154438;31844290;31848261;32157095;32161166;32387766;32587324;32897882;32938616;32983136;33392160;33968037;33981976;34171305;34185709;34509645;35051231;35580925;37938771;38377392;38605214;7060561;8083230;8300559;9188469;9417066;9705332", "class_list": "", "function": "Exhibits both acyltransferase and acetyltransferase activities (PubMed:17182612, PubMed:20363836, PubMed:21498505). Catalyzes the conversion of lysophosphatidylcholine (1-acyl-sn-glycero-3-phosphocholine or LPC) into phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) (PubMed:21498505). Catalyzes the conversion 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:20363836). Involved in platelet-activating factor (PAF) biosynthesis by catalyzing the conversion of the PAF precursor, 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) into 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (PAF) (PubMed:17182612). Also converts lyso-PAF to 1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine (PC), a major component of cell membranes and a PAF precursor (By similarity). Under resting conditions, acyltransferase activity is preferred (By similarity). Upon acute inflammatory stimulus, acetyltransferase activity is enhanced and PAF synthesis increases (By similarity). Involved in the regulation of lipid droplet number and size (PubMed:25491198)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; LPCAT2 inhibits colorectal cancer progression via the PRMT1/SLC7A11 axis., [RefSeq, PubMed]; Lysophosphatidylcholine acyltransferase 2 (LPCAT2) co-localises with TLR4 and regulates macrophage inflammatory gene expression in response to LPS. Publication Status: Online-Only, [RefSeq, PubMed]; Lysophospholipid Acyltransferase 9 Promotes Emphysema Formation via Platelet-activating Factor., [RefSeq, PubMed]; 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]; Our enzymatic assays strongly suggest that the cDNA previously identified as LPCAT2/lyso platelet-activating factor-acetyltransferase cDNA has AGPAT activity and thus we prefer to identify this clone as AGPAT11 as well., [RefSeq, PubMed]; The enzyme acetyl-CoA:LYSO-PAF acetyltransferase catalyzes not only biosynthesis of PAF upon acute inflammatory stimulation but also incorporation of arachidonoyl-CoA to produce PAF precursor membrane glycerophospholipids for membrane biogenesis., [RefSeq, PubMed]; This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009]., [RefSeq]; Three of these five genes (CXCL14, ITGAX, and LPCAT2) harbored polymorphisms associated with aggressive disease development in a human GWAS cohort consisting of 1,172 prostate cancer patients. Erratum:[PLoS Genet. 2015 May 01;11(5):e1005127. doi: 10.1371/journal.pgen.1005127. PMID: 25933217] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A3KBM1;Q6MZJ6;Q9NX23", "ec_number_list": [ { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.15", "type": "external" }, { "id": "2.3.1.121", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.121", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.n6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n6", "type": "external" }, { "id": "2.3.1.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n7", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" } ], "go_molecular_function": "GO:0047144 2-acylglycerol-3-phosphate O-acyltransferase activity;GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity;GO:0042171 lysophosphatidic acid acyltransferase activity;GO:0005509 calcium ion binding;GO:0047184 1-acylglycerophosphocholine O-acyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006663 platelet activating factor biosynthetic process;GO:0061024 membrane organization;GO:0036151 phosphatidylcholine acyl-chain remodeling;GO:0008654 phospholipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q7L5N7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTW8-1", "uniprot_id": [ { "id": "OTOAN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTW8", "type": "external" } ], "mass": 128533.0, "length": 1153, "protein_name": "Otoancorin", "gene_name": "OTOA", "organism": "Human", "refseq_name": "otoancorin isoform 3", "refseq_ac": [ { "id": "NP_001155155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155155", "type": "external" } ], "gene_names_uniprotkb": "OTOA", "gene_names_refseq": "CT108; DFNB22; OTOA", "protein_names_uniprotkb": "Otoancorin", "protein_names_refseq": "cancer/testis antigen 108; otoancorin isoform 3", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 22 (Disease Ontology:DOID:0110480)", "pathway": " (hsa:146183); (R-HSA-163125)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "11072085;11237011;11972037;19139490;19888295;23173898;2443973;25892735;28904123;29178603;30740825;31844290;32387766;32552051;32938616;33298915;33492714;3422494;35051231;37114731", "class_list": "", "function": "A description of two novel OTOA mutations that were discovered in three consanguineous Pakistani families segregating autosomal recessive non-syndromic hearing impairment., [RefSeq, PubMed]; Large deletions in OTOA gene is associated with hearing loss., [RefSeq, PubMed]; May act as an adhesion molecule., [UniProtKB]; Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients., [RefSeq, PubMed]; Non-segregation of an OTOA p.Gln293Arg variant led to the discovery of a genomic microdeletion of OTOA on the opposite allele by copy number variation analysis. Overall, 13 pairs of recessive candidate variants were deemed causative in 13 patients., [RefSeq, PubMed]; Polymorphisms in Neuronal Growth Regulator 1 and Otoancorin Alternate the Susceptibility to Lung Cancer in Chinese Nonsmoking Females., [RefSeq, PubMed]; The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]; The results of this reverse translational study confirmed GPI-anchorage of OTOA and showed that downstream sequences from the 589th amino acid are critical for GPI-anchorage., [RefSeq, PubMed]; [Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations]., [RefSeq, PubMed]", "predicted_glycosites": 11, "predicted_n_glycosites": 11, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 52, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A1L3A8;A2VDI0;B3KWU3;E9PF51;Q8NA86;Q96M76", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016324 apical plasma membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0007160 cell-matrix adhesion;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q7RTW8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XP0-1", "uniprot_id": [ { "id": "PA24D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XP0", "type": "external" } ], "mass": 91952.0, "length": 818, "protein_name": "Cytosolic phospholipase A2 delta", "gene_name": "PLA2G4D", "organism": "Human", "refseq_name": "cytosolic phospholipase A2 delta", "refseq_ac": [ { "id": "NP_828848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_828848", "type": "external" } ], "gene_names_uniprotkb": "PLA2G4D", "gene_names_refseq": "PLA2G4D; cPLA2delta", "protein_names_uniprotkb": "Cytosolic phospholipase A2 delta; 3.1.1.4; Phospholipase A2 group IVD; cPLA2-delta", "protein_names_refseq": "cPLA2-delta; cytosolic phospholipase A2 delta; phospholipase A2 delta, cytosolic; phospholipase A2, group IVD (cytosolic)", "tax_id": 9606, "disease": "", "pathway": " (hsa:283748); (R-HSA-1482788); (R-HSA-1482801); (R-HSA-1482839); (R-HSA-1482922); (R-HSA-1482925); (R-HSA-1483115); (R-HSA-1483166)", "pathway_count": 8, "publication_count": 105, "publication_id_list": "10085124;10092508;10092647;10196188;10336645;10358058;10455175;10506173;10553003;10681567;11031251;11112443;11788596;11790796;11830583;12063250;12150957;12161451;12359733;12522102;12963729;14573790;14709560;15367102;15485873;15695510;15863501;15944408;1618844;16213696;16243729;16460752;16495223;16617059;16620771;16704971;16818490;16864775;17028579;17101204;17170135;17182612;17707131;18094042;18195019;18238778;18287005;18458083;18614531;18686860;18718904;18772128;18781350;19019078;1904318;19336658;19351971;19501189;19554302;19666841;19913121;20025994;20628086;20705608;21173190;21220512;21515882;22605381;22777291;22825852;22906437;22922100;23176821;23176823;23807634;23934110;24349473;24966474;26206935;26463208;26503625;26711011;27220631;27670592;28440406;2925608;2925633;34171305;3458202;35051231;7060561;7821823;8083230;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9417066;9461603;9525960;9582313;9705332", "class_list": "", "function": "CPLA(2)delta exhibits a unique distribution pattern compared with that of known cPLA(2) subtypes and may play a critical role in inflammation in psoriatic lesions, [RefSeq, PubMed]; Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position (PubMed:14709560). Has a preference for linoleic acid at the sn-2 position (PubMed:14709560)., [UniProtKB, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; Study defined eight additional recurrently mutated genes in SMZL; these genes are CREBBP, CBFA2T3, AMOTL1, FAT4, FBXO11, PLA2G4D, TRRAP and USH2A. Publication Status: Online-Only, [RefSeq, PubMed]; The findings suggest that PLA2 inhibition or CD1a blockade may have therapeutic potential for psoriasis., [RefSeq, PubMed]; The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009]., [RefSeq]; These findings suggested that the polymorphism of PLA2G4D rs4924618 may have a protective influence on the SPTB susceptibility in a Chinese population, supporting a role for genetics in the association between PG synthesis and preterm birth., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8N176", "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": "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": "3.4.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.-", "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:0005509 calcium ion binding;GO:0004623 phospholipase A2 activity;GO:0008970 phospholipase A1 activity;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0036148 phosphatidylglycerol acyl-chain remodeling;GO:0006631 fatty acid metabolic process;GO:0046475 glycerophospholipid catabolic process;GO:0036149 phosphatidylinositol acyl-chain remodeling", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q86XP0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYS1-1", "uniprot_id": [ { "id": "P20D2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYS1", "type": "external" } ], "mass": 47776.0, "length": 436, "protein_name": "Xaa-Arg dipeptidase", "gene_name": "PM20D2", "organism": "Human", "refseq_name": "xaa-Arg dipeptidase", "refseq_ac": [ { "id": "NP_001010853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010853", "type": "external" } ], "gene_names_uniprotkb": "PM20D2; ACY1L2", "gene_names_refseq": "ACY1L2; PM20D2", "protein_names_uniprotkb": "Xaa-Arg dipeptidase; 3.4.13.4; Beta-Ala-Lys dipeptidase", "protein_names_refseq": "I(2)-alanyl-lysine dipeptidase; aminoacylase-1-like protein 2; beta-Ala-Lys dipeptidase; beta-alanyl-lysine dipeptidase; xaa-Arg dipeptidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:135293)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "18991276;23301498;23481700;24366607;24714562;24715725;24891507;25418920;25576301;25645385;25880248;25892735;26375851;26728094;26758079;26811146;26992070;28228285;28832583;28834231;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30429286;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33691108;33717175;33912179;33968037;34019948;34087483;34171305;34357683;34932366;35561310;35580925;36010968;36241641;36284347;37938771;38665916", "class_list": "", "function": "Catalyzes the peptide bond hydrolysis in dipeptides having basic amino acids lysine, ornithine or arginine at C-terminus. Postulated to function in a metabolite repair mechanism by eliminating alternate dipeptide by-products formed during carnosine synthesis., [UniProtKB, PubMed]; PM20D2 hydrolyzed beta-alanyl-lysine, beta-alanyl-ornithine, gamma-aminobutyryl-lysine, and gamma-aminobutyryl-ornithine as its best substrates., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DYJ2;Q5T7J9;Q6MZV2;Q86XD9", "ec_number_list": [ { "id": "3.4.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.13.4", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004180 carboxypeptidase activity;GO:0016805 dipeptidase activity", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006508 proteolysis;GO:0051246 regulation of protein metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q8IYS1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N349-1", "uniprot_id": [ { "id": "OR2LD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N349", "type": "external" } ], "mass": 35634.0, "length": 312, "protein_name": "Olfactory receptor 2L13", "gene_name": "OR2L13", "organism": "Human", "refseq_name": "olfactory receptor 2L13", "refseq_ac": [ { "id": "NP_001291464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291464", "type": "external" } ], "gene_names_uniprotkb": "OR2L13; OR2L14", "gene_names_refseq": "OR2L13; OR2L14", "protein_names_uniprotkb": "Olfactory receptor 2L13; Olfactory receptor 2L14", "protein_names_refseq": "olfactory receptor 2L13; olfactory receptor 2L14; olfactory receptor, family 2, subfamily L, member 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:284521); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 24, "publication_id_list": "10460249;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;29545821;31040214;31974307;32066986;33392160;35324479;39894887", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; Platelet olfactory receptor activation limits platelet reactivity and growth of aortic aneurysms., [RefSeq, PubMed]; RNA-Seq evidence of testis-specific monoallelic expression of OR2L13, located 419 kb downstream of the GCSAML somatic (secondary), imprinted differentially methylated region (iDMR). OR2L13 has a predicted CGI-bearing allelically methylated region overlapping the promoter region in blood, spleen, lung, liver, esophagus, and brain, but hypomethylated in gamete, blastocyst, placenta, thymus, and spinal cord methylomes. 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": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5VUR5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8N349-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7R1-1", "uniprot_id": [ { "id": "P1L12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7R1", "type": "external" } ], "mass": 31848.0, "length": 296, "protein_name": "POM121-like protein 12", "gene_name": "POM121L12", "organism": "Human", "refseq_name": "POM121-like protein 12", "refseq_ac": [ { "id": "NP_872401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872401", "type": "external" } ], "gene_names_uniprotkb": "POM121L12", "gene_names_refseq": "POM121L12", "protein_names_uniprotkb": "POM121-like protein 12", "protein_names_refseq": "POM121 membrane glycoprotein-like 12; POM121-like protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:285877)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "29557506;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NDI9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N7R1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NG80-1", "uniprot_id": [ { "id": "OR2L5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NG80", "type": "external" } ], "mass": 35648.0, "length": 312, "protein_name": "Olfactory receptor 2L5", "gene_name": "OR2L5", "organism": "Human", "refseq_name": "olfactory receptor 2L5", "refseq_ac": [ { "id": "NP_001245213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245213", "type": "external" } ], "gene_names_uniprotkb": "OR2L5; OR2L11", "gene_names_refseq": "OR2L11; OR2L5P; OR2L5", "protein_names_uniprotkb": "Olfactory receptor 2L5; Olfactory receptor 2L11; Olfactory receptor OR1-53", "protein_names_refseq": "olfactory receptor 2L11; olfactory receptor 2L5; olfactory receptor OR1-53; olfactory receptor, family 2, subfamily L, member 11; olfactory receptor, family 2, subfamily L, member 5 pseudogene; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:81466); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;29557506;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IF04", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NG80-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NG85-1", "uniprot_id": [ { "id": "OR2L3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NG85", "type": "external" } ], "mass": 35282.0, "length": 312, "protein_name": "Olfactory receptor 2L3", "gene_name": "OR2L3", "organism": "Human", "refseq_name": "olfactory receptor 2L3", "refseq_ac": [ { "id": "NP_001004687", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004687", "type": "external" } ], "gene_names_uniprotkb": "OR2L3", "gene_names_refseq": "OR2L3", "protein_names_uniprotkb": "Olfactory receptor 2L3", "protein_names_refseq": "olfactory receptor 2L3", "tax_id": 9606, "disease": "", "pathway": " (hsa:391192); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 4, "publication_id_list": "24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B9EH44", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NG85-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGH3-1", "uniprot_id": [ { "id": "OR2D3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGH3", "type": "external" } ], "mass": 37489.0, "length": 330, "protein_name": "Olfactory receptor 2D3", "gene_name": "OR2D3", "organism": "Human", "refseq_name": "olfactory receptor 2D3", "refseq_ac": [ { "id": "NP_001004684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004684", "type": "external" } ], "gene_names_uniprotkb": "OR2D3", "gene_names_refseq": "OR11-89; OR2D3", "protein_names_uniprotkb": "Olfactory receptor 2D3; Olfactory receptor OR11-89", "protein_names_refseq": "olfactory receptor 2D3; olfactory receptor OR11-89", "tax_id": 9606, "disease": "", "pathway": " (hsa:120775); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;22544926;24800820;27515280;31324691;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RP06;Q6IFG8;Q96R51", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGH3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWQ0-1", "uniprot_id": [ { "id": "PHIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWQ0", "type": "external" } ], "mass": 206689.0, "length": 1821, "protein_name": "PH-interacting protein", "gene_name": "PHIP", "organism": "Human", "refseq_name": "PH-interacting protein", "refseq_ac": [ { "id": "NP_060404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060404", "type": "external" } ], "gene_names_uniprotkb": "PHIP; DCAF14; WDR11", "gene_names_refseq": "BRWD2; CHUJANS; DCAF14; DIDOD; PHIP; RepID; WDR11; ndrp", "protein_names_uniprotkb": "PH-interacting protein; DDB1- and CUL4-associated factor 14; IRS-1 PH domain-binding protein; PHIP; WD repeat-containing protein 11", "protein_names_refseq": "DDB1 and CUL4 associated factor 14; IRS-1 PH domain-binding protein; PH-interacting protein; WD repeat-containing protein 11; pleckstrin homology domain interacting protein", "tax_id": 9606, "disease": "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (MONDO:MONDO:0035133)", "pathway": " (hsa:55023); (R-HSA-9013418)", "pathway_count": 2, "publication_count": 99, "publication_id_list": "10.1101/2023.09.13.557529;11018022;11237011;12242307;15107402;16959974;17081983;17636024;18220336;18669648;18835386;19608861;19690332;20068231;21406692;21834987;22464331;22645359;23033978;23186163;24275569;24366607;24608665;25114211;25505266;25576301;25593309;25645385;25755297;25892735;26375851;26811146;26992070;27862975;27900362;27920218;27941885;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29209020;29242379;29351928;29393594;29437277;29508533;29557506;29769354;29786170;30315122;30379171;30410026;30429286;30524438;30779550;31092671;31844290;31871319;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32938750;32983136;33141586;33298915;33468647;33503431;33537174;33592498;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34171797;34185709;34509645;34561969;34819353;34932366;35051231;35318648;35580925;36010968;36284347;36581221;37938771;39302247;40596516", "class_list": "", "function": "A trivalent nucleosome interaction by PHIP/BRWD2 is disrupted in neurodevelopmental disorders and cancer., [RefSeq, PubMed]; DCAF14 promotes stalled fork stability to maintain genome integrity., [RefSeq, PubMed]; Discovery of a hidden transient state in all bromodomain families., [RefSeq, PubMed]; Molecular double clips within RepID WD40 domain control chromatin binding and CRL4-substrate assembly., [RefSeq, PubMed]; Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A7J992;B2RPK4;Q05CQ9;Q5VVH4;Q66I29;Q69YV1;Q8NBZ5;Q96H52;Q96ME2;Q9H261", "ec_number_list": [], "go_molecular_function": "GO:0005158 insulin receptor binding;GO:0140566 histone reader activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q8WWQ0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96R27-1", "uniprot_id": [ { "id": "OR2M4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96R27", "type": "external" } ], "mass": 35071.0, "length": 311, "protein_name": "Olfactory receptor 2M4", "gene_name": "OR2M4", "organism": "Human", "refseq_name": "olfactory receptor 2M4", "refseq_ac": [ { "id": "NP_059974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059974", "type": "external" } ], "gene_names_uniprotkb": "OR2M4", "gene_names_refseq": "HSHTPCRX18; HTPCRX18; OR1-55; OR2M4; OST710; TPCR100", "protein_names_uniprotkb": "Olfactory receptor 2M4; HTPCRX18; OST710; Olfactory receptor OR1-55; Olfactory receptor TPCR100", "protein_names_refseq": "novel 7 transmembrane receptor (rhodopsin family) protein; olfactory receptor 2M4; olfactory receptor OR1-55; olfactory receptor TPCR100", "tax_id": 9606, "disease": "", "pathway": " (hsa:26245); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "1370859;14983052;24800820;27515280;28411811;31974307;32066986;35494241;9119360", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 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": "Q15611;Q8NG82", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell;GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96R27-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQ51-1", "uniprot_id": [ { "id": "PD1L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ51", "type": "external" } ], "mass": 30957.0, "length": 273, "protein_name": "Programmed cell death 1 ligand 2", "gene_name": "PDCD1LG2", "organism": "Human", "refseq_name": "programmed cell death 1 ligand 2 precursor", "refseq_ac": [ { "id": "NP_079515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079515", "type": "external" } ], "gene_names_uniprotkb": "PDCD1LG2; B7DC; CD273; PDCD1L2; PDL2", "gene_names_refseq": "B7DC; Btdc; CD273; PD-L2; PDCD1L2; PDCD1LG2; PDL2; bA574F11.2", "protein_names_uniprotkb": "Programmed cell death 1 ligand 2; B7-DC; Butyrophilin B7-DC; PD-1 ligand 2; PD-L2; PDCD1 ligand 2; Programmed death ligand 2", "protein_names_refseq": "B7 dendritic cell molecule; B7-DC; PD-1-ligand 2; PDCD1 ligand 2; butyrophilin B7-DC; programmed cell death 1 ligand 2 precursor; programmed death ligand 2", "tax_id": 9606, "disease": "pulmonary tuberculosis (Disease Ontology:DOID:2957)", "pathway": " (hsa:80380); (R-HSA-389948); (R-HSA-9931295)", "pathway_count": 3, "publication_count": 40, "publication_id_list": "11224527;11283156;12538684;12893276;12947224;14515261;15253154;15340161;15358536;18173375;18759926;21154117;23302904;25502872;27572267;28165004;28265006;28467828;28904123;29765039;29863979;30118680;30522017;31305264;31313098;31844290;32157095;32350084;32938616;32983136;33298915;33912179;33968037;35051231;36719382;37402054;37768345;37828429;38816578;38956724", "class_list": "", "function": "An alternatively spliced PD-L1 isoform PD-L13, and PD-L2 expression in breast cancers: implications for eligibility scoring and immunotherapy response., [RefSeq, PubMed]; Binding properties of B7-DC to programmed death-1., [RefSeq, PubMed]; Blockade of PD-L2 during T cell responses initiated by allogenic dendritic cells increases T cell proliferation and cytokine production, showing that PD-L2 functions to inhibit T cell activation., [RefSeq, PubMed]; Cholinergic signaling influences the expression of immune checkpoint inhibitors, PD-L1 and PD-L2, and tumor hallmarks in human colorectal cancer tissues and cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; Hypoimmunogenic human iPSCs expressing HLA-G, PD-L1, and PD-L2 evade innate and adaptive immunity. Publication Status: Online-Only, [RefSeq, PubMed]; PD-L2 drives resistance to EGFR-TKIs: dynamic changes of the tumor immune environment and targeted therapy., [RefSeq, PubMed]; PD-L2 overexpression on tumor-associated macrophages is one of the predictors for better prognosis in lung adenocarcinoma., [RefSeq, PubMed]; Plays a critical role in induction and maintenance of immune tolerance to self (PubMed:11224527, PubMed:12538684). Acts as a ligand for the inhibitory receptor PDCD1/PD-1, inhibiting T-cell proliferation by blocking cell cycle progression and cytokine production (PubMed:11224527)., [UniProtKB, PubMed, PubMed]; Regulatory role of PD-1 and the differential roles of B7-H1 and B7-DC in hapten-induced immune responses., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "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": 56, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q14CN8;Q5T7Z6;Q6JXL8;Q6JXL9", "ec_number_list": [], "go_molecular_function": "GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0032693 negative regulation of interleukin-10 production;GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0031295 T cell costimulation;GO:0032689 negative regulation of type II interferon production", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9BQ51-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXB4-1", "uniprot_id": [ { "id": "OSB11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXB4", "type": "external" } ], "mass": 83643.0, "length": 747, "protein_name": "Oxysterol-binding protein-related protein 11", "gene_name": "OSBPL11", "organism": "Human", "refseq_name": "oxysterol-binding protein-related protein 11", "refseq_ac": [ { "id": "NP_073613", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073613", "type": "external" } ], "gene_names_uniprotkb": "OSBPL11; ORP11; OSBP12", "gene_names_refseq": "ORP-11; ORP11; OSBP12; OSBPL11; TCCCIA00292", "protein_names_uniprotkb": "Oxysterol-binding protein-related protein 11; ORP-11; OSBP-related protein 11", "protein_names_refseq": "OSBP-related protein 11; oxysterol-binding protein-related protein 11; testicular tissue protein Li 132", "tax_id": 9606, "disease": "", "pathway": " (hsa:114885); (R-HSA-9013407)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10.1101/2023.09.13.557529;11368848;11483621;11735225;11809807;16959974;16964243;17028588;17064668;17081983;17322306;17428193;18077418;18220336;18491316;18669648;18691976;18767875;19325544;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068231;20166139;20184954;20599956;20851766;21406692;23028956;23186163;23301498;24275569;25418920;25576301;26375851;26992070;27846572;27869121;28051070;28063628;28446606;28832583;28834231;28904123;29242379;29393594;29485866;29510700;29557506;29632046;29786170;30315122;30410026;30429286;30784271;31154438;31173207;31217245;31844290;31848261;31871319;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33392160;33537174;33592498;33912179;33936100;33968037;34185709;34357683;34932366;35051231;35580925;35705054;36010968;36241641;37938771;39106189;40307207", "class_list": "", "function": "ORP8 overexpression resulted in reduced expression of the aP2 mRNA, while down-regulation of adiponectin and aP2 was observed in ORP11 silenced cells. ORP8 overexpression or silencing of ORP11 markedly decreased cellular triglyceride storage., [RefSeq, PubMed]; OSBPL11 is down-regulated and may be a potential indicator for hepatocellular carcinoma., [RefSeq, PubMed]; Plays a role in regulating ADIPOQ and FABP4 levels in differentiating adipocytes and is also involved in regulation of adipocyte triglyceride storage (PubMed:23028956). Weakly binds 25-hydroxycholesterol (PubMed:17428193). Interacts with OSBPL9 to function as lipid transfer proteins (PubMed:39106189). Together they form a heterodimer that localizes at the ER-trans-Golgi membrane contact sites, and exchanges phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine, PS) for phosphatidylinositol-4-phosphate (1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate), PI(4)P) between the two organelles, a step that is critical for sphingomyelin synthesis in the Golgi complex (PubMed:39106189)., [UniProtKB, PubMed, PubMed, PubMed]; The OSBPL11 gene is involved in cholesterol and glucose metabolism in obese individuals. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "A8K9I7", "ec_number_list": [], "go_molecular_function": "GO:0032934 sterol binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0006649 phospholipid transfer to membrane;GO:0055091 phospholipid homeostasis;GO:0045444 fat cell differentiation;GO:0070328 triglyceride homeostasis;GO:0097212 lysosomal membrane organization", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q9BXB4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZK6-1", "uniprot_id": [ { "id": "OR2J1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZK6", "type": "external" } ], "mass": 35454.0, "length": 312, "protein_name": "Olfactory receptor 2J1", "gene_name": "OR2J1", "organism": "Human", "refseq_name": "olfactory receptor 2J1", "refseq_ac": [ { "id": "NP_001335223", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335223", "type": "external" } ], "gene_names_uniprotkb": "OR2J1; OR2J1P", "gene_names_refseq": "6M1-4P; OR2J1P; OR2J1; OR6-15; OR6-5; dJ80I19.2; hs6M1-4", "protein_names_uniprotkb": "Olfactory receptor 2J1; Hs6M1-4; OR6-5; Olfactory receptor 6-5", "protein_names_refseq": "olfactory receptor 2J1; olfactory receptor 6-5; olfactory receptor OR6-15; olfactory receptor, family 2, subfamily J, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:442185); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "10460249;12730696;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2AAS1;B0V1T2;Q9GZK1", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9GZK6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H210-1", "uniprot_id": [ { "id": "OR2D2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H210", "type": "external" } ], "mass": 34172.0, "length": 308, "protein_name": "Olfactory receptor 2D2", "gene_name": "OR2D2", "organism": "Human", "refseq_name": "olfactory receptor 2D2", "refseq_ac": [ { "id": "NP_003691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003691", "type": "external" } ], "gene_names_uniprotkb": "OR2D2; OR2D1", "gene_names_refseq": "OR11-610; OR2D1; OR2D2; hg27", "protein_names_uniprotkb": "Olfactory receptor 2D2; HB2; OR11-610; Olfactory receptor 11-610; Olfactory receptor 2D1; Olfactory receptor OR11-88", "protein_names_refseq": "HB2; olfactory receptor 11-610; olfactory receptor 2D1; olfactory receptor 2D2; olfactory receptor OR11-88; olfactory receptor, family 2, subfamily D, member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:120776); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11416212;14983052;24800820;27515280;31974307;32066986;32488085;35494241;9787077", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EIL5;O95224;Q6IF28;Q8NGH4;Q96R52", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell;GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9H210-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6A9-1", "uniprot_id": [ { "id": "PCX3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6A9", "type": "external" } ], "mass": 222039.0, "length": 2034, "protein_name": "Pecanex-like protein 3", "gene_name": "PCNX3", "organism": "Human", "refseq_name": "pecanex-like protein 3", "refseq_ac": [ { "id": "NP_115599", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115599", "type": "external" } ], "gene_names_uniprotkb": "PCNX3; PCNXL3", "gene_names_refseq": "PCNX3; PCNXL3", "protein_names_uniprotkb": "Pecanex-like protein 3; Pecanex homolog protein 3", "protein_names_refseq": "pecanex homolog 3; pecanex homolog protein 3; pecanex-like 3; pecanex-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:399909)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "19124506;19913121;20068231;20628086;22424782;23186163;23481700;24397554;24715725;25418920;25502872;25576301;25645385;25892735;26154972;26375851;26811146;26992070;27543614;27862975;27920218;28218747;28228285;28467828;28832583;28855257;28904123;29242379;29331515;29393594;29557506;29769354;29786170;30315122;30429286;30779550;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33968037;34087483;34171305;34357683;34405274;34509645;35051231;35561310;35580925;36215666;36241641;36581221", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6MZN8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9H6A9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUG6-1", "uniprot_id": [ { "id": "PDRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUG6", "type": "external" } ], "mass": 15511.0, "length": 133, "protein_name": "p53 and DNA damage-regulated protein 1", "gene_name": "PDRG1", "organism": "Human", "refseq_name": "p53 and DNA damage-regulated protein 1", "refseq_ac": [ { "id": "NP_110442", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110442", "type": "external" } ], "gene_names_uniprotkb": "PDRG1; C20orf126; PDRG", "gene_names_refseq": "C20orf126; PDRG1; PDRG", "protein_names_uniprotkb": "p53 and DNA damage-regulated protein 1", "protein_names_refseq": "epididymis secretory sperm binding protein; p53 and DNA damage-regulated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81572)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "14562055;19450687;20068231;21193842;23301498;24366607;25576301;26154972;26375851;26992070;27920218;28228285;28832583;28834231;29242379;29331515;29493099;30315122;30429286;31154438;31530632;31738558;31844290;31848261;32157095;32265295;32488085;32502341;32938616;32983136;33298915;33537174;33592498;33717175;33968037;34185709;34780783;34812552;35580925;36010968;37938771", "class_list": "", "function": "Cloning and characterization of a novel gene PDRG that is differentially regulated by p53 and ultraviolet radiation, [RefSeq, PubMed]; Is part of an RNA polymerase II-associated complex with possible chaperone activity., [RefSeq, PubMed]; May play a role in chaperone-mediated protein folding., [UniProtKB]; PDRG1 expression is increased in multiple human malignancies suggesting it to be a high-value novel tumor marker that could play a role in cancer development and/or progression., [RefSeq, PubMed]; PDRG1 predicts a poor prognosis and facilitates the proliferation and metastasis of colorectal cancer., [RefSeq, PubMed]; PDRG1 promotes the proliferation and migration of GBM cells by the MEK/ERK/CD44 pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R511;Q96GP3;Q9BUW8", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016272 prefoldin complex", "go_biological_process": "GO:0050821 protein stabilization;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9NUG6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZK7-1", "uniprot_id": [ { "id": "PA2GE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZK7", "type": "external" } ], "mass": 15989.0, "length": 142, "protein_name": "Group IIE secretory phospholipase A2", "gene_name": "PLA2G2E", "organism": "Human", "refseq_name": "group IIE secretory phospholipase A2 precursor", "refseq_ac": [ { "id": "NP_055404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055404", "type": "external" } ], "gene_names_uniprotkb": "PLA2G2E", "gene_names_refseq": "GIIE sPLA2; PLA2G2E; sPLA2-IIE", "protein_names_uniprotkb": "Group IIE secretory phospholipase A2; 3.1.1.4; GIIE sPLA2; Phosphatidylcholine 2-acylhydrolase 2E; sPLA2-IIE", "protein_names_refseq": "group IIE secretory phospholipase A2 precursor; group IIE secretory phospholipase A2; phosphatidylcholine 2-acylhydrolase 2E", "tax_id": 9606, "disease": "", "pathway": " (hsa:30814); (R-HSA-1482788); (R-HSA-1482801); (R-HSA-1482839); (R-HSA-1482922); (R-HSA-1482925); (R-HSA-1483166)", "pathway_count": 7, "publication_count": 103, "publication_id_list": "10085124;10092647;10196188;10336645;10358058;10455175;10506173;10553003;10681567;11031251;11112443;11788596;11830583;11922621;12063250;12150957;12161451;12359733;12522102;12963729;14573790;14709560;15367102;15485873;15695510;15863501;15944408;1618844;16243729;16460752;16495223;16617059;16620771;16704971;16818490;16864775;17028579;17101204;17170135;17182612;17707131;18094042;18195019;18238778;18287005;18458083;18614531;18718904;18772128;18781350;19019078;1904318;19336658;19351971;19501189;19554302;19666841;20025994;20056178;20705608;21173190;21220512;21515882;22605381;22777291;22825852;22906437;22922100;23176821;23176823;23807634;23934110;24966474;26206935;26463208;26503625;26711011;28883454;29242379;2925608;2925633;32659444;33894413;34327916;3458202;37217939;37490917;38253038;38591879;7060561;7821823;8083230;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9417066;9461603;9582313;9705332", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; PLA2G2E-mediated lipid metabolism triggers brain-autonomous neural repair after ischemic stroke., [RefSeq, PubMed]; Promotes stimulus-induced arachidonic acid release and prostaglandin (PG) production similar to those elicited by HSPG-dependent sPLA(2)s, suggesting that this enzyme plays a role in the inflammatory process., [RefSeq, PubMed]; Residue Asn21 acts as a switch for calcium binding to modulate the enzymatic activity of human phospholipase A2 group IIE., [RefSeq, PubMed]; Secreted phospholipase PLA2G2E contributes to regulation of T cell immune response against influenza virus infection., [RefSeq, PubMed]; Secretory calcium-dependent phospholipase A2 that primarily targets extracellular phospholipids (PubMed:10681567, PubMed:11922621, PubMed:28883454). Hydrolyzes the ester bond of the fatty acyl group attached at sn-2 position of phospholipids (phospholipase A2 activity), releasing various unsaturated fatty acids including oleoate, linoleoate, arachidonate, docosahexaenoate and lysophosphatidylethanolamines in preference to lysophosphatidylcholines (PubMed:10681567, PubMed:28883454). In response to high-fat diet, hydrolyzes minor lipoprotein phospholipids including phosphatidylserines, phosphatidylinositols and phosphatidylglycerols, altering lipoprotein composition and fat storage in adipose tissue and liver (By similarity). May act in an autocrine and paracrine manner (PubMed:11922621). 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:11922621). Acts as a hair follicle phospholipase A2. Selectively releases lysophosphatidylethanolamines (LPE) and various unsaturated fatty acids in skin to regulate hair follicle homeostasis (By similarity). May regulate the inflammatory response by releasing arachidonate, a precursor of prostaglandins and leukotrienes (PubMed:11922621). Upon allergen exposure, may participate in allergic inflammatory response by enhancing leukotriene C4 synthesis and degranulation in mast cells (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; The atypical binding mechanism of second calcium on phospholipase A2 group IIE., [RefSeq, PubMed]; [Effect of E54 mutation of human secreted phospholipase A2 GIIE on substrate selectivity]., [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": 9, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5VXJ8", "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": "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": "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:0005543 phospholipid binding;GO:0005509 calcium ion binding;GO:0004623 phospholipase A2 activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm", "go_biological_process": "GO:0006954 inflammatory response;GO:0016042 lipid catabolic process;GO:0050482 arachidonate secretion;GO:0046470 phosphatidylcholine metabolic process;GO:0006644 phospholipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9NZK7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P1Q5-1", "uniprot_id": [ { "id": "OR1A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P1Q5", "type": "external" } ], "mass": 34565.0, "length": 309, "protein_name": "Olfactory receptor 1A1", "gene_name": "OR1A1", "organism": "Human", "refseq_name": "olfactory receptor 1A1", "refseq_ac": [ { "id": "NP_055380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055380", "type": "external" } ], "gene_names_uniprotkb": "OR1A1", "gene_names_refseq": "OR17-7; OR1A1", "protein_names_uniprotkb": "Olfactory receptor 1A1; OR17-7; Olfactory receptor 17-7; Olfactory receptor OR17-11", "protein_names_refseq": "olfactory receptor 17-7; olfactory receptor 1A1; olfactory receptor OR17-11", "tax_id": 9606, "disease": "", "pathway": " (hsa:8383); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "10460249;10673334;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25817041;25977809;26373539;27515280;27916747;27916748;28656349;29235485;29632183;31040214;31974307;32066986;36293357", "class_list": "", "function": "Evolutionary conserved amino acid residues to be necessary for specific responsiveness of OR1A1 to odorants were identified., [RefSeq, PubMed]; Molecular mechanism of activation of human musk receptors OR5AN1 and OR1A1 by (R)-muscone and diverse other musk-smelling compounds., [RefSeq, PubMed]; OR1A1 activation suppresses hepatic triglyceride metabolism by modulating HES-1, PPARG, and mtGPAT expression., [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; The Third Extracellular Loop of Mammalian Odorant Receptors Is Involved in Ligand Binding. Publication Status: Online-Only, [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": 25, "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": "A5D914;Q6IFM1;Q6NTA9;Q96R87", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9P1Q5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62945-1", "uniprot_id": [ { "id": "RS32_HUMAN", "url": "https://www.uniprot.org/uniprot/P62945", "type": "external" } ], "mass": 3456.0, "length": 25, "protein_name": "Small ribosomal subunit protein eS32", "gene_name": "RPL41", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS32", "refseq_ac": [ { "id": "NP_001030344", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030344", "type": "external" } ], "gene_names_uniprotkb": "RPL41", "gene_names_refseq": "L41; RPL41; eL41", "protein_names_uniprotkb": "Small ribosomal subunit protein eS32; 60S ribosomal protein L41; HG12; Large ribosomal subunit protein eL41", "protein_names_refseq": "60S ribosomal protein L41; HG12 protein; homologue of yeast ribosomal protein YL41; large ribosomal subunit protein eL41; small ribosomal subunit protein eS32", "tax_id": 9606, "disease": "", "pathway": " (hsa:6171); (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": 182, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1326959;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;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;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24715725;25132172;25242263;25525153;25578875;25969445;26237581;27082702;27526673;28065601;28132843;28685749;29242379;29393594;29413899;29632312;30244831;30293783;30804176;31011209;32099016;32387766;32579943;32783256;33406423;33909987;36302773;37676773;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9299532;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the small ribosomal subunit (Probable) (Ref.8). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Interacts with the beta subunit of protein kinase CKII and stimulates phosphorylation of DNA topoisomerase II alpha by CKII (PubMed:9299532)., [UniProtKB, PubMed, PubMed, UniProtKB]; Differential gene expression analysis demonstrated significant upregulation of PDZK1IP1, EEF1A2 and RPL41 (ENSG00000279483) genes in the intrahepatic cholangiocarcinoma samples when compared with the matched paratumor samples., [RefSeq, PubMed]; RPL41 sensitizes retinoblastoma cells to chemotherapeutic drugs via ATF4 degradation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NG21;P28751", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0048027 mRNA 5'-UTR binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0022625 cytosolic large ribosomal subunit;GO:0005840 ribosome", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "P62945-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15835-1", "uniprot_id": [ { "id": "GRK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15835", "type": "external" } ], "mass": 63526.0, "length": 563, "protein_name": "Rhodopsin kinase GRK1", "gene_name": "GRK1", "organism": "Human", "refseq_name": "rhodopsin kinase GRK1", "refseq_ac": [ { "id": "NP_002920", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002920", "type": "external" } ], "gene_names_uniprotkb": "GRK1; RHOK", "gene_names_refseq": "GPRK1; GRK1; RHOK; RK", "protein_names_uniprotkb": "Rhodopsin kinase GRK1; 2.7.11.14; G protein-coupled receptor kinase 1; RK", "protein_names_refseq": "rhodopsin kinase GRK1", "tax_id": 9606, "disease": "Oguchi disease-2 (Disease Ontology:DOID:0110713); alcohol use disorder (Disease Ontology:DOID:1574); retinal disease (Disease Ontology:DOID:5679); congestive heart failure (Disease Ontology:DOID:6000); night blindness (Disease Ontology:DOID:8499)", "pathway": " (hsa:6011); (R-HSA-2514859)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10037746;10051575;10564809;10676965;11292825;11601986;11687658;11713293;11717351;11754336;12036349;12119397;12499365;12825937;1356371;1379636;1387789;1436039;14702087;1527025;15946941;16274222;16895762;16908407;17070587;17114291;17636946;18803695;19818506;1999465;20430952;20975703;22658984;2540796;2550422;2558719;25979333;28511019;3006923;3164688;32146548;33252155;34528284;34830487;35051231;37217939;4772407;6264430;7525588;7526403;7644482;7670478;7678445;7682292;7777544;7983048;8494894;8626439;8706659;8812493;9020843;9119368;9147475;9268593;9353336;9430683;9459445;9506952", "class_list": "", "function": "Disulfide Dimerization of Neuronal Calcium Sensor-1: Implications for Zinc and Redox Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; In conclusion, in the present report, a novel missense mutation in GRK1 gene in homozygous state was reported in an Italian patient affected with Oguchi disease., [RefSeq, PubMed]; New variants and in silico analyses in GRK1 associated Oguchi disease., [RefSeq, PubMed]; Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene., [RefSeq, PubMed]; Retina-specific kinase involved in the signal turnoff via phosphorylation of rhodopsin (RHO), the G protein- coupled receptor that initiates the phototransduction cascade (PubMed:15946941). This rapid desensitization is essential for scotopic vision and permits rapid adaptation to changes in illumination (By similarity). May play a role in the maintenance of the outer nuclear layer in the retina (By similarity)., [UniProtKB, PubMed, UniProtKB]; This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008]., [RefSeq]; Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "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": "Q53X14", "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:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0050254 rhodopsin kinase activity;GO:0004703 G protein-coupled receptor kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0097381 photoreceptor disc membrane", "go_biological_process": "GO:0007601 visual perception;GO:0009966 regulation of signal transduction;GO:0016056 G protein-coupled opsin signaling pathway;GO:0022400 regulation of opsin-mediated signaling pathway;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q15835-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCQ9-1", "uniprot_id": [ { "id": "RN222_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCQ9", "type": "external" } ], "mass": 23767.0, "length": 220, "protein_name": "RING finger protein 222", "gene_name": "RNF222", "organism": "Human", "refseq_name": "RING finger protein 222", "refseq_ac": [ { "id": "NP_001140156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140156", "type": "external" } ], "gene_names_uniprotkb": "RNF222", "gene_names_refseq": "RNF222", "protein_names_uniprotkb": "RING finger protein 222", "protein_names_refseq": "RING finger protein 222; RING finger protein LOC643904", "tax_id": 9606, "disease": "", "pathway": " (hsa:643904)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "22424782;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NCQ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NIE6-1", "uniprot_id": [ { "id": "RN3P2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NIE6", "type": "external" } ], "mass": 38035.0, "length": 340, "protein_name": "Putative RRN3-like protein RRN3P2", "gene_name": "RRN3P2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RRN3P2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative RRN3-like protein RRN3P2; RNA polymerase I transcription factor homolog pseudogene 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": "", "pathway_count": 0, "publication_count": 12, "publication_id_list": "24366607;26154972;27846572;29557506;30315122;31844290;32357974;32387766;32488085;32502341;33141586;33392160", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0001181 RNA polymerase I general transcription initiation factor activity;GO:0001042 RNA polymerase I core binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006361 transcription initiation at RNA polymerase I promoter", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "A6NIE6-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NKH3-1", "uniprot_id": [ { "id": "RL37L_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NKH3", "type": "external" } ], "mass": 10583.0, "length": 93, "protein_name": "Putative ribosomal protein eL43-like", "gene_name": "RPL37AP8", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RPL37AP8; RPL37L", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ribosomal protein eL43-like; Putative 60S ribosomal protein L37a-like protein; Ribosomal protein L37a pseudogene 8", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "27846572", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "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:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0022625 cytosolic large ribosomal subunit", "go_biological_process": "GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NKH3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61927-1", "uniprot_id": [ { "id": "RL37_HUMAN", "url": "https://www.uniprot.org/uniprot/P61927", "type": "external" } ], "mass": 11078.0, "length": 97, "protein_name": "Large ribosomal subunit protein eL37", "gene_name": "RPL37", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL37", "refseq_ac": [ { "id": "NP_000988", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000988", "type": "external" } ], "gene_names_uniprotkb": "RPL37", "gene_names_refseq": "L37; RPL37; eL37", "protein_names_uniprotkb": "Large ribosomal subunit protein eL37; 60S ribosomal protein L37; G1.16", "protein_names_refseq": "60S ribosomal protein L37a; 60S ribosomal protein L37; G1.16; large ribosomal subunit protein eL37", "tax_id": 9606, "disease": "", "pathway": " (hsa:6167); (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": 235, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;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;18691976;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19651622;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20305658;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21406692;21419344;22072790;22190735;22195017;22916032;23085078;23217742;23234702;23269699;23439679;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25525153;25576301;25578875;25969445;26237581;26728094;26992070;27526673;27600516;27846572;27920218;28063628;28065601;28132843;28685749;28832583;28904123;29242379;29393594;29413899;29493099;29557506;29632046;29632312;29632711;29786170;30059200;30244831;30293783;30429286;30524438;30804176;30833945;31011209;31154438;31373491;31611695;31844290;31998317;32099016;32161166;32265295;32350084;32387766;32579943;32669547;32897882;32938616;32983136;33091337;33141586;33392160;33406423;33592498;33909987;33912179;33968037;33981976;34185709;34509645;35051231;35251023;35254053;35318648;35580925;36215666;36302773;37676773;429297;592398;592399;641056;6568109;6901506;7545944;7588717;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9582194;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed]; Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB, UniProtKB]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37E family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C2C2-type zinc finger-like motif. 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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R4H2;P02403;Q6IBB4;Q99883", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0019843 rRNA binding;GO:0097371 MDM2/MDM4 family protein binding;GO:1990948 ubiquitin ligase inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045202 synapse;GO:0022626 cytosolic ribosome;GO:0022625 cytosolic large ribosomal subunit", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:1901798 positive regulation of signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 24.1, "record_id": "P61927-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42766-1", "uniprot_id": [ { "id": "RL35_HUMAN", "url": "https://www.uniprot.org/uniprot/P42766", "type": "external" } ], "mass": 14551.0, "length": 123, "protein_name": "Large ribosomal subunit protein uL29", "gene_name": "RPL35", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL29", "refseq_ac": [ { "id": "NP_009140", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009140", "type": "external" } ], "gene_names_uniprotkb": "RPL35", "gene_names_refseq": "DBA19; L35; RPL35; uL29", "protein_names_uniprotkb": "Large ribosomal subunit protein uL29; 60S ribosomal protein L35", "protein_names_refseq": "60S ribosomal protein L35; large ribosomal subunit protein uL29", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 19 (Disease Ontology:DOID:0111886)", "pathway": " (hsa:11224); (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": 272, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11401437;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18446792;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20220067;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22190735;22195017;22424782;22544926;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24715725;25132172;25242263;25525153;25576301;25578875;25645385;25969445;26154972;26237581;26758079;26811146;26992070;27452731;27526673;27600516;27846572;27862975;27920218;28063628;28065601;28132843;28228285;28280134;28685749;28832583;28834231;28904123;29242379;29393594;29413899;29493099;29557506;29632046;29632312;29632711;30244831;30293783;30315122;30429286;30484775;30779550;30804176;30833945;31011209;31092671;31154438;31217245;31530632;31611695;31690716;31717259;31844290;31848261;31937595;31998317;32099016;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32579943;32669547;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33406423;33537174;33592498;33691108;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34093574;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35251023;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;36302773;37217939;37676773;37938771;38665916;429297;592398;592399;641056;6568109;6901506;7500030;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; This study therefore identifies lncNB1 and its binding protein RPL35 as key factors for promoting E2F1 protein synthesis, N-Myc protein stability and N-Myc-driven oncogenesis, and as therapeutic targets. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K4V7;Q4VBY5;Q5JTN5;Q6IBC7;Q96QJ7;Q9BYF4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0022626 cytosolic ribosome", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 27.5, "record_id": "P42766-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05387-1", "uniprot_id": [ { "id": "RLA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P05387", "type": "external" } ], "mass": 11665.0, "length": 115, "protein_name": "Large ribosomal subunit protein P2", "gene_name": "RPLP2", "organism": "Human", "refseq_name": "large ribosomal subunit protein P2", "refseq_ac": [ { "id": "NP_000995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000995", "type": "external" } ], "gene_names_uniprotkb": "RPLP2; D11S2243E; RPP2", "gene_names_refseq": "D11S2243E; LP2; P2; RPLP2; RPP2", "protein_names_uniprotkb": "Large ribosomal subunit protein P2; 60S acidic ribosomal protein P2; Renal carcinoma antigen NY-REN-44", "protein_names_refseq": "60S acidic ribosomal protein P2; acidic ribosomal phosphoprotein P2; large ribosomal subunit protein P2; renal carcinoma antigen NY-REN-44; ribosomal protein, large, P2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6181); (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": 333, "publication_id_list": "10.1101/2023.09.13.557529;10358005;10508479;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12379128;12417715;12493757;12554878;12588972;12682728;12718880;12832468;12853463;1286669;1400365;14527413;14567916;14630918;14636577;14654843;14729942;14742663;14973490;14997482;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16565220;16601204;16622410;16630668;16738141;16964243;16989641;17053788;17081983;17142313;17189298;17267404;17322306;17352659;17353269;17363904;17412707;17668158;17726049;17803942;17893241;18065403;18066079;18166647;18212344;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18452278;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18691976;18974281;19060897;19106111;19150429;19332556;19359157;19413330;19415658;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19615748;19651622;19664995;19690332;19691289;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068230;20068231;20112406;20166139;20230923;20305658;20361218;20385603;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21406692;21419344;2153399;21740066;22072790;22121020;22190735;22195017;22661428;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23482395;23636399;23685075;23746841;2388630;24275569;24424021;24524803;24550520;24715725;25132172;25242263;25418920;25502872;25525153;25576301;25578875;25645385;25810538;25969445;26154972;26237581;26758079;26768311;26811146;26929215;26992070;27090790;27114449;27397612;27526673;27543614;27600516;27846572;28065601;28132843;28218747;28228285;28446606;28685749;28832583;28834231;28904123;29237092;29242379;29249144;29331515;29351928;29393594;29413899;29508533;29557506;29632046;29632312;29632711;29786170;29789417;30059200;30192525;30244831;30293783;30315122;30379171;30444036;30484775;30524438;30620550;30779550;30804176;30833945;31011209;31092671;31217245;31373491;31492838;31611695;31844290;31848261;32099016;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32579943;32862280;32890404;32897882;32938616;32938750;32983136;33091337;33141586;33214551;3323886;33298915;33392160;33406423;33592498;33691108;33909987;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34328639;34357683;34433824;34509645;34561969;34725712;34932366;35051231;35132862;35138101;35251023;35254053;35318648;35513511;35561310;35580925;35705054;36010968;36215666;36241641;36284347;36302773;37074911;37217939;37340703;37541260;37676773;37938771;38665916;38838015;39531497;39534244;40307207;40596516;429297;592398;592399;641056;6568109;6901506;7990965;8050201;8336711;8407925;8890909;9211906;9294205;9431993;9482744;9631292;9637248;9712840;9864030", "class_list": "", "function": "A three-gene signature and clinical outcome in pediatric acute myeloid leukemia., [RefSeq, PubMed]; Phosphorylation of the conserved C-terminal domain of ribosomal P-proteins impairs the mode of interaction with plant toxins., [RefSeq, PubMed]; Plays an important role in the elongation step of protein synthesis., [UniProtKB, UniProtKB, UniProtKB]; Ribosomal stalk proteins RPLP1 and RPLP2 promote biogenesis of flaviviral and cellular multi-pass transmembrane proteins., [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 phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q6FG96", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 34.3, "record_id": "P05387-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92901-1", "uniprot_id": [ { "id": "RL3L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92901", "type": "external" } ], "mass": 46296.0, "length": 407, "protein_name": "Ribosomal protein uL3-like", "gene_name": "RPL3L", "organism": "Human", "refseq_name": "ribosomal protein uL3-like", "refseq_ac": [ { "id": "NP_005052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005052", "type": "external" } ], "gene_names_uniprotkb": "RPL3L", "gene_names_refseq": "CMD2D; RPL3L", "protein_names_uniprotkb": "Ribosomal protein uL3-like; 60S ribosomal protein L3-like; Large ribosomal subunit protein uL3-like", "protein_names_refseq": "60S ribosomal protein L3-like; large ribosomal subunit protein uL3-like; ribosomal protein uL3-like", "tax_id": 9606, "disease": "dilated cardiomyopathy 2D (Disease Ontology:DOID:0081160)", "pathway": " (hsa:6123); (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": 195, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18510355;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;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21048031;21063389;21097556;21145460;21419344;22072790;22190735;22195017;22916032;23085078;23217742;23234702;23269699;23439679;23482395;23685075;23746841;2388630;24424021;24550520;25132172;25242263;25525153;25578875;25969445;26237581;27526673;27600516;28065601;28132843;28685749;28832583;28904123;29242379;29371260;29413899;29557506;29632046;29632312;30244831;30293783;30804176;31011209;31530632;31844290;32099016;32161166;32357974;32514796;32579943;32870709;32983136;33392160;33406423;33592498;33909987;35323613;36291431;36302773;37676773;38254943;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;8921388;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Exploring the Regulation and Function of Rpl3l in the Development of Early-Onset Dilated Cardiomyopathy and Congestive Heart Failure Using Systems Genetics Approach. Publication Status: Online-Only, [RefSeq, PubMed]; Heart- and skeletal muscle-specific component of the ribosome, which regulates muscle function. Component of the large ribosomal subunit in striated muscle cells: replaces the RPL3 paralog in the ribosome in these cells. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Inhibits myotube growth and muscle function., [UniProtKB, UniProtKB]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0005840 ribosome;GO:0022625 cytosolic large ribosomal subunit;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0016202 regulation of striated muscle tissue development;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0010832 negative regulation of myotube differentiation", "synthesized_glycan_count": 0, "hit_score": 19.6, "record_id": "Q92901-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "M0QZC1-1", "uniprot_id": [ { "id": "RN225_HUMAN", "url": "https://www.uniprot.org/uniprot/M0QZC1", "type": "external" } ], "mass": 34789.0, "length": 329, "protein_name": "RING finger protein 225", "gene_name": "RNF225", "organism": "Human", "refseq_name": "RING finger protein 225", "refseq_ac": [ { "id": "NP_001182064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182064", "type": "external" } ], "gene_names_uniprotkb": "RNF225", "gene_names_refseq": "RNF225", "protein_names_uniprotkb": "RING finger protein 225", "protein_names_refseq": "RING finger protein 225", "tax_id": 9606, "disease": "", "pathway": " (hsa:646862)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "M0QZC1-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46778-1", "uniprot_id": [ { "id": "RL21_HUMAN", "url": "https://www.uniprot.org/uniprot/P46778", "type": "external" } ], "mass": 18565.0, "length": 160, "protein_name": "Large ribosomal subunit protein eL21", "gene_name": "RPL21", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL21", "refseq_ac": [ { "id": "NP_000973", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000973", "type": "external" } ], "gene_names_uniprotkb": "RPL21", "gene_names_refseq": "HYPT12; L21; RPL21; eL21", "protein_names_uniprotkb": "Large ribosomal subunit protein eL21; 60S ribosomal protein L21", "protein_names_refseq": "60S ribosomal protein L21; large ribosomal subunit protein eL21", "tax_id": 9606, "disease": "hypotrichosis 12 (Disease Ontology:DOID:0110709)", "pathway": " (hsa:6144); (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": 270, "publication_id_list": "10.1101/2023.09.13.557529;10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18369606;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;21412954;21419344;21740066;22072790;22121020;22190735;22195017;22916032;23085078;23217742;23234702;23269699;23301498;23439679;23482395;23636399;23685075;23746841;2388630;24190977;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25525153;25576301;25578875;25810538;25901680;25957688;25969445;26154972;26237581;26728094;26758079;26929215;26992070;27452731;27526673;27846572;27920218;28063628;28065601;28132843;28218747;28467828;28685749;28832583;28904123;29242379;29314611;29393594;29413899;29493099;29557506;29632046;29632312;29632711;29786170;29789417;30192525;30244831;30293783;30315122;30429286;30484775;30524438;30779550;30804176;31011209;31020640;31092671;31154438;31217245;31611695;31844290;32099016;32119511;32157095;32265295;32350084;32387766;32488085;32502341;32579943;32669547;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33406423;33592498;33691108;33909987;33912179;33936100;33968037;33981976;34019948;34147559;34171305;34357683;34725712;35051231;35138101;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36302773;37217939;37676773;37938771;38665916;40930100;429297;592398;592399;641056;6568109;6901506;7581362;7772601;7951316;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9582194;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; The ribosomal protein eL21 interacts with the protein lysine methyltransferase SMYD2 and regulates its steady state levels., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q16699", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 27.5, "record_id": "P46778-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75792-1", "uniprot_id": [ { "id": "RNH2A_HUMAN", "url": "https://www.uniprot.org/uniprot/O75792", "type": "external" } ], "mass": 33395.0, "length": 299, "protein_name": "Ribonuclease H2 subunit A", "gene_name": "RNASEH2A", "organism": "Human", "refseq_name": "ribonuclease H2 subunit A", "refseq_ac": [ { "id": "NP_006388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006388", "type": "external" } ], "gene_names_uniprotkb": "RNASEH2A; RNASEHI; RNHIA", "gene_names_refseq": "AGS4; RNASEH2A; RNASEHI; RNHIA; RNHL", "protein_names_uniprotkb": "Ribonuclease H2 subunit A; 3.1.26.4; AGS4; Aicardi-Goutieres syndrome 4 protein; RNase H(35); RNase H2 subunit A; RNase HI large subunit; Ribonuclease HI large subunit; Ribonuclease HI subunit A", "protein_names_refseq": "RNase H(35); RNase H2 subunit A; RNase HI large subunit; aicardi-Goutieres syndrome 4 protein; ribonuclease H2 subunit A; ribonuclease H2, large subunit; ribonuclease HI large subunit; ribonuclease HI subunit A", "tax_id": 9606, "disease": "Aicardi-Goutieres syndrome (Disease Ontology:DOID:0050629)", "pathway": " (hsa:10535)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "11237011;16845400;17846997;18669648;19664995;20068231;20131292;21177858;22223895;22645359;23186163;23481700;24366607;24715725;25418920;25576301;25810538;25880248;26154972;26929215;26992070;27846572;27862975;27893789;27920218;28218747;28228285;28352266;28510447;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29605689;29632046;30315122;30429286;31092671;31217245;31530632;31844290;31998317;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33912179;33936100;33968037;34171305;34211107;34509645;35500843;35580925;35618715;36010968;36577784;36923313;40307207;40914422;9789007", "class_list": "", "function": "Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes., [UniProtKB, PubMed, PubMed]; Depletion of RNASEH2 Activity Leads to Accumulation of DNA Double-strand Breaks and Reduced Cellular Survivability in T Cell Leukemia., [RefSeq, PubMed]; Endonuclease that specifically degrades the RNA of RNA-DNA hybrids., [UniProtKB, UniProtKB, UniProtKB]; RNase H2, mutated in Aicardi-Goutieres syndrome, resolves co-transcriptional R-loops to prevent DNA breaks and inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; RNaseH2A downregulation drives inflammatory gene expression via genomic DNA fragmentation in senescent and cancer cells. Erratum:[Commun Biol. 2025 Dec 30;8(1):1856. doi: 10.1038/s42003-025-09392-y. PMID: 41469483] Publication Status: Online-Only, [RefSeq, PubMed]; Ribonuclease H2 Subunit A Preserves Genomic Integrity and Promotes Prostate Cancer Progression. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 6, "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": "B2RCY1;Q96F11", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0004523 RNA-DNA hybrid ribonuclease activity;GO:0004540 RNA nuclease activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0032299 ribonuclease H2 complex", "go_biological_process": "GO:0006260 DNA replication;GO:0006298 mismatch repair;GO:0043137 DNA replication, removal of RNA primer;GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "O75792-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94844-1", "uniprot_id": [ { "id": "RHBT1_HUMAN", "url": "https://www.uniprot.org/uniprot/O94844", "type": "external" } ], "mass": 79417.0, "length": 696, "protein_name": "Rho-related BTB domain-containing protein 1", "gene_name": "RHOBTB1", "organism": "Human", "refseq_name": "rho-related BTB domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001229288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229288", "type": "external" } ], "gene_names_uniprotkb": "RHOBTB1; KIAA0740", "gene_names_refseq": "RHOBTB1", "protein_names_uniprotkb": "Rho-related BTB domain-containing protein 1; 3.6.5.2", "protein_names_refseq": "rho-related BTB domain-containing protein 1 isoform 1; rho-related BTB domain-containing protein 1", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 64 (Disease Ontology:DOID:0070375)", "pathway": " (hsa:9886); (R-HSA-9013422)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "12426103;16170569;16385451;17287340;18835386;24608665;25576301;25645385;25802875;26154972;26992070;27314390;27846572;28219369;28832583;28834231;29493099;29557506;29786170;30429286;30779550;30896450;31154438;31431478;31844290;31871319;32157095;32161166;32354068;32387766;32488085;32938616;33141586;33392160;33592498;33968037;34185709;35318648;35580925;36010968;37575477;37938771", "class_list": "", "function": "Frequent allelic loss and decreased expression of RHOBTB1 suggested that this gene has a role in tumorigenesis of a subset of HNSCC (Head-Neck Squamous Cell Carcinoma)., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RNA Interference Screening Identifies Novel Roles for RhoBTB1 and RhoBTB3 in Membrane Trafficking Events in Mammalian Cells. Publication Status: Online-Only, [RefSeq, PubMed]; RhoBTB1 associates with ROCK1 and ROCK2 and its association with ROCK1 is via its Rho domain. Publication Status: Online-Only, [RefSeq, PubMed]; RhoBTB1 regulates the integrity of the Golgi complex through METTL7B. RhoBTB1 is required for expression of METTL7B and silencing of either protein leads to fragmentation of the Golgi. Loss of RhoBTB1 expression is linked to Golgi fragmentation in breast cancer cells. Restoration of normal RhoBTB1 expression rescues Golgi morphology and dramatically inhibits breast cancer cell invasion. Publication Status: Online-Only, [RefSeq, PubMed]; Structure and Function of RhoBTB1 Required for Substrate Specificity and Cullin-3 Ubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "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": "3.6.5.4", "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": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "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_cellular_component": "GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle;GO:0010008 endosome membrane;GO:0042995 cell projection", "go_biological_process": "GO:0007015 actin filament organization;GO:0007165 signal transduction;GO:0032956 regulation of actin cytoskeleton organization;GO:0007264 small GTPase-mediated signal transduction;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O94844-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05386-1", "uniprot_id": [ { "id": "RLA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P05386", "type": "external" } ], "mass": 11514.0, "length": 114, "protein_name": "Large ribosomal subunit protein P1", "gene_name": "RPLP1", "organism": "Human", "refseq_name": "large ribosomal subunit protein P1 isoform 1", "refseq_ac": [ { "id": "NP_000994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000994", "type": "external" } ], "gene_names_uniprotkb": "RPLP1; RRP1", "gene_names_refseq": "LP1; P1; RPLP1; RPP1", "protein_names_uniprotkb": "Large ribosomal subunit protein P1; 60S acidic ribosomal protein P1", "protein_names_refseq": "60S acidic ribosomal protein P1; acidic ribosomal phosphoprotein P1; large ribosomal subunit protein P1 isoform 1; large ribosomal subunit protein P1; ribosomal protein, large, P1", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036)", "pathway": " (hsa:6176); (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": 271, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14729942;14742663;14973490;14997482;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16565220;16601204;16622410;16630668;16738141;16807684;16964243;16989641;17053788;17142313;17189298;17267404;17287340;17352659;17353269;17363904;17412707;17726049;17803942;17893241;17924679;18065403;18066079;18088087;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18452278;18455985;18491316;18524595;18539146;1856230;1861871;18657639;18669648;18707149;18767875;18974281;19060897;19106111;19150429;19332556;19359157;19413330;19415658;19417104;19478851;19503078;19556969;19564402;19608919;19651622;19664994;19664995;19706539;19801658;19859661;19909264;20023408;20038530;20056613;20058876;2006156;20068231;20187088;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22121020;22135285;22190735;22195017;22223895;22424782;22544926;22916032;23085078;23217742;23234702;23269699;23301498;23439679;23481700;23482395;23636399;23685075;23746841;23783831;2388630;24424021;24524803;24550520;24715725;25132172;25242263;25502872;25525153;25578875;25645385;25810538;25969445;26154972;26237581;26375851;26758079;26992070;27452731;27526673;27543614;27600516;27862975;28065601;28132843;28228285;28685749;28832583;28904123;29242379;29393594;29413899;29508533;29557506;29632312;29632711;29786170;30244831;30293783;30429286;30524438;30804176;31011209;31844290;32099016;32157095;32350084;32357974;32387766;32488085;32502341;32579943;32897882;32938616;32983136;33091337;33123756;33141586;3323886;33298915;33392160;33406423;33592498;33691108;33909987;33936100;33968037;34019948;34078123;34087483;34171305;34357683;34433824;34509645;35051231;35083852;35132862;35138101;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36638793;36769010;37217939;37676773;37938771;38906865;39032642;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Esrra regulates Rplp1-mediated translation of lysosome proteins suppressed in metabolic dysfunction-associated steatohepatitis and reversed by alternate day fasting., [RefSeq, PubMed]; Plays an important role in the elongation step of protein synthesis., [UniProtKB, UniProtKB, UniProtKB]; RPLP1 Is Up-Regulated in Human Adenomyosis and Endometrial Adenocarcinoma Epithelial Cells and Is Essential for Cell Survival and Migration In Vitro. Publication Status: Online-Only, [RefSeq, PubMed]; RPLP1 restricts HIV-1 transcription by disrupting C/EBPbeta binding to the LTR. Publication Status: Online-Only, [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P2. The P1 protein can interact with P0 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Two alternatively spliced transcript variants that encode different proteins have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "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": "A6NIB2", "ec_number_list": [], "go_molecular_function": "GO:0043021 ribonucleoprotein complex binding;GO:0030295 protein kinase activator activity;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0022626 cytosolic ribosome", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0006414 translational elongation", "synthesized_glycan_count": 0, "hit_score": 27.4, "record_id": "P05386-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DH78-1", "uniprot_id": [ { "id": "RN224_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DH78", "type": "external" } ], "mass": 16549.0, "length": 156, "protein_name": "RING finger protein 224", "gene_name": "RNF224", "organism": "Human", "refseq_name": "RING finger protein 224", "refseq_ac": [ { "id": "NP_001177157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177157", "type": "external" } ], "gene_names_uniprotkb": "RNF224", "gene_names_refseq": "RNF224", "protein_names_uniprotkb": "RING finger protein 224", "protein_names_refseq": "RING finger protein 224", "tax_id": 9606, "disease": "", "pathway": " (hsa:643596)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DH78-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49207-1", "uniprot_id": [ { "id": "RL34_HUMAN", "url": "https://www.uniprot.org/uniprot/P49207", "type": "external" } ], "mass": 13293.0, "length": 117, "protein_name": "Large ribosomal subunit protein eL34", "gene_name": "RPL34", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL34", "refseq_ac": [ { "id": "NP_000986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000986", "type": "external" } ], "gene_names_uniprotkb": "RPL34", "gene_names_refseq": "L34; RPL34; eL34", "protein_names_uniprotkb": "Large ribosomal subunit protein eL34; 60S ribosomal protein L34", "protein_names_refseq": "60S ribosomal protein L34; large ribosomal subunit protein eL34; leukemia-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6164); (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": 284, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11265756;11331269;11466336;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15104674;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;17924679;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18691976;18767875;18974281;19007248;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19691289;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21406692;21419344;21740066;22072790;22190735;22195017;22424782;22544926;22916032;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25505266;25525153;25576301;25578875;25645385;25810538;25901680;25957688;25969445;26154972;26237581;26526135;26728094;26811146;26992070;27397612;27452731;27526673;27600516;27846572;27862975;27920218;28063628;28065601;28132843;28228285;28685749;28832583;28834231;28860189;28904123;29242379;29393594;29413899;29493099;29508533;29557506;29632046;29632312;29632711;29786170;29789417;30244831;30293783;30315122;30429286;30524438;30804176;31011209;31154438;31611695;31717259;31844290;31848261;31937595;31998317;32099016;32119511;32157095;32161166;32265295;32357974;32387766;32488085;32579943;32669547;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33406423;33537174;33592498;33675124;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34509645;34725712;34932366;35051231;35083852;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36302773;36581221;37676773;38665916;429297;592398;592399;641056;6568109;6901506;7490091;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9582194;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Over-expressed RPL34 may promote malignant proliferation of NSCLC cells, thus playing an important role in development and progress of NSCLC, [RefSeq, PubMed]; RPL34-AS1-induced RPL34 inhibits cervical cancer cell tumorigenesis via the MDM2-P53 pathway., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L34E family of ribosomal proteins. It is located in the cytoplasm. This gene originally was thought to be located at 17q21, but it has been mapped to 4q. Overexpression of this gene has been observed in some cancer cells. Alternative splicing results in multiple transcript variants, all encoding the same isoform. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6FG66;Q9BUZ2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0045202 synapse;GO:0070062 extracellular exosome", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 28.7, "record_id": "P49207-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58872-1", "uniprot_id": [ { "id": "RHBL3_HUMAN", "url": "https://www.uniprot.org/uniprot/P58872", "type": "external" } ], "mass": 45245.0, "length": 404, "protein_name": "Rhomboid-related protein 3", "gene_name": "RHBDL3", "organism": "Human", "refseq_name": "rhomboid-related protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001317110", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317110", "type": "external" } ], "gene_names_uniprotkb": "RHBDL3; RHBDL4; VRHO", "gene_names_refseq": "RHBDL3; RHBDL4; VRHO", "protein_names_uniprotkb": "Rhomboid-related protein 3; 3.4.21.105; Ventrhoid transmembrane protein", "protein_names_refseq": "rhomboid, veinlet-like 3; rhomboid, veinlet-like 4; rhomboid-related protein 3 isoform 2; rhomboid-related protein 3; ventrhoid transmembrane protein", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:162494)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;11900977;28218747;29437277;35051231;35436469", "class_list": "", "function": "May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors., [UniProtKB]; The mammalian rhomboid protein RHBDL4 protects against endoplasmic reticulum stress by regulating the morphology and distribution of ER sheets., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NMH1;Q495Y4;Q495Y5;Q495Y6", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P58872-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62891-1", "uniprot_id": [ { "id": "RL39_HUMAN", "url": "https://www.uniprot.org/uniprot/P62891", "type": "external" } ], "mass": 6407.0, "length": 51, "protein_name": "Large ribosomal subunit protein eL39", "gene_name": "RPL39", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL39", "refseq_ac": [ { "id": "NP_000991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000991", "type": "external" } ], "gene_names_uniprotkb": "RPL39", "gene_names_refseq": "L39; RPL39P42; RPL39_23_1806; RPL39; eL39", "protein_names_uniprotkb": "Large ribosomal subunit protein eL39; 60S ribosomal protein L39", "protein_names_refseq": "60S ribosomal protein L39; large ribosomal subunit protein eL39", "tax_id": 9606, "disease": "", "pathway": " (hsa:6170); (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": 231, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11265756;11331269;11401437;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;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;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22190735;22195017;22645359;22916032;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24715725;25132172;25242263;25525153;25576301;25578875;25969445;26024233;26237581;26992070;27526673;27600516;27846572;27920218;28040796;28063628;28065601;28132843;28510447;28685749;28832583;28904123;29242379;29393594;29413899;29493099;29508533;29557506;29632046;29632312;29632711;29786170;30244831;30293783;30429286;30804176;31011209;31154438;31217245;31611695;31844290;31998317;32099016;32157095;32161166;32265295;32387766;32579943;32669547;32938616;32983136;33091337;33123756;33298915;33392160;33406423;33633747;33909987;33936100;33968037;33981976;34357683;34509645;34561969;35561310;35580925;35934718;36215666;36302773;37217939;37676773;40930100;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8672555;8764829;8890909;8908372;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Acylglycerol kinase promotes ovarian cancer progression and regulates mitochondria function by interacting with ribosomal protein L39. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, PubMed, PubMed, PubMed]; RPL39 mediated its cancer-promoting actions through iNOS signaling, which was driven by the RNA editing enzyme adenosine deaminase acting on RNA 1. Publication Status: Online-Only, [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the S39E family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein is the smallest, and one of the most basic, proteins of the ribosome. This gene is co-transcribed with the U69 small nucleolar RNA gene, 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. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "P02404;P39025;Q9BYF2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0022626 cytosolic ribosome;GO:0022625 cytosolic large ribosomal subunit", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0019731 antibacterial humoral response;GO:0050830 defense response to Gram-positive bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 23.4, "record_id": "P62891-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13129-1", "uniprot_id": [ { "id": "RLF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13129", "type": "external" } ], "mass": 217953.0, "length": 1914, "protein_name": "Zinc finger protein Rlf", "gene_name": "RLF", "organism": "Human", "refseq_name": "zinc finger protein Rlf", "refseq_ac": [ { "id": "NP_036553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036553", "type": "external" } ], "gene_names_uniprotkb": "RLF", "gene_names_refseq": "RLF; ZN-15L; ZNF292L", "protein_names_uniprotkb": "Zinc finger protein Rlf; Rearranged L-myc fusion gene protein; Zn-15-related protein", "protein_names_refseq": "Zn-15 related; rearranged L-myc fusion gene protein; rearranged L-myc fusion sequence; zinc finger protein Rlf; zn-15-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6018)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;17081983;18669648;20068231;21406692;23186163;23481700;24714562;24715725;25218447;25418920;25576301;25645385;25755297;25772364;25880248;25892735;26154972;26728094;26811146;26992070;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29605689;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36581221;8545128", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 9400, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q14CQ1;Q9NU60", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q13129-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M238-1", "uniprot_id": [ { "id": "RN3P1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M238", "type": "external" } ], "mass": 17255.0, "length": 152, "protein_name": "Putative RRN3-like protein RRN3P1", "gene_name": "RRN3P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RRN3P1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative RRN3-like protein RRN3P1; RNA polymerase I transcription factor homolog pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 14, "publication_id_list": "21993680;23481700;25645385;25892735;27543614;28228285;28834231;29331515;29557506;29632711;29769354;30315122;31844290;35494241", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K6T4;B3KWX9;O75704", "ec_number_list": [], "go_molecular_function": "GO:0001181 RNA polymerase I general transcription initiation factor activity", "go_cellular_component": "", "go_biological_process": "GO:0006361 transcription initiation at RNA polymerase I promoter", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q2M238-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VT52-1", "uniprot_id": [ { "id": "RPRD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VT52", "type": "external" } ], "mass": 156020.0, "length": 1461, "protein_name": "Regulation of nuclear pre-mRNA domain-containing protein 2", "gene_name": "RPRD2", "organism": "Human", "refseq_name": "regulation of nuclear pre-mRNA domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001284602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284602", "type": "external" } ], "gene_names_uniprotkb": "RPRD2; HSPC099; KIAA0460", "gene_names_refseq": "HSPC099; KIAA0460; RPRD2", "protein_names_uniprotkb": "Regulation of nuclear pre-mRNA domain-containing protein 2", "protein_names_refseq": "regulation of nuclear pre-mRNA domain-containing protein 2 isoform 2; regulation of nuclear pre-mRNA domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23248); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 163, "publication_id_list": "10022900;11856838;12414730;12574128;14701755;15302935;1535687;16239144;16308568;16901896;16964243;17081983;17322306;1739980;17525332;17924679;18079403;18212344;1829677;18452278;18491316;18669648;18767875;19367720;19413330;19415658;19651622;19664994;19664995;19667075;19690332;20058876;20068230;20068231;20166139;20457598;2125285;21406692;22137580;22231121;22252320;22441827;22661428;23166507;23186163;23301498;23481700;23932780;24097444;24129315;24270878;24275569;24714562;24715725;24997600;25489052;25576301;25645385;25675981;25810538;25892735;26154972;26375851;26992070;27114449;27600516;27846572;27862975;27869121;27920218;28228285;28514659;28657654;28832583;28834231;28904123;29237092;29242379;29249144;29351928;2944599;29493099;29557506;29632046;29632711;29769354;29786170;30059200;30315122;30379171;30410026;30429286;30484775;30524438;30620550;31217245;31373491;31492838;31637018;31844290;32119511;32157095;32357974;32387766;32502341;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33592498;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34509645;34561969;34725712;34846842;34931806;34932366;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35580925;35705054;36010968;36215666;36240223;36241641;36284347;37340703;37541260;37938771;38665916;39302247;39531497;39534244;40136647;40307207;40596516;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "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": 83, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 83, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 83, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 59, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 127, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 85, "binding_glycan_count": 0, "secondary_ac_list": "A8K6N8;B3KPT1;B4E2Q6;O75048;Q5VT51;Q5VT53;Q6MZL4;Q86XD2;Q9P0D7", "ec_number_list": [], "go_molecular_function": "GO:0000993 RNA polymerase II complex binding;GO:0099122 RNA polymerase II C-terminal domain binding", "go_cellular_component": "GO:0097550 transcription preinitiation complex;GO:0005654 nucleoplasm", "go_biological_process": "GO:0031124 mRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 24.9, "record_id": "Q5VT52-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5N7-1", "uniprot_id": [ { "id": "RM50_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5N7", "type": "external" } ], "mass": 18325.0, "length": 158, "protein_name": "Large ribosomal subunit protein mL50", "gene_name": "MRPL50", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL50", "refseq_ac": [ { "id": "NP_061924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061924", "type": "external" } ], "gene_names_uniprotkb": "MRPL50", "gene_names_refseq": "MRP-L50; MRPL50; mL50", "protein_names_uniprotkb": "Large ribosomal subunit protein mL50; 39S ribosomal protein L50, mitochondrial; L50mt; MRP-L50", "protein_names_refseq": "39S ribosomal protein L50, mitochondrial; L50mt; large ribosomal subunit protein mL50; mitochondrial 39S ribosomal protein L50; mitochondrial large ribosomal subunit protein mL50", "tax_id": 9606, "disease": "primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:54534); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 29, "publication_id_list": "15358359;17803939;17924679;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;23301498;25233460;25278503;25838379;27029019;28892042;28904123;33243891;33465208;33878294;34561969;35177605;36302763;36596788;37141370;37148394;40596516", "class_list": "", "function": "Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency., [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 putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z358;Q5T7E0;Q9NX15", "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": 3.2, "record_id": "Q8N5N7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHW5-1", "uniprot_id": [ { "id": "RLA0L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHW5", "type": "external" } ], "mass": 34364.0, "length": 317, "protein_name": "Putative ribosomal protein uL10-like", "gene_name": "RPLP0P6", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RPLP0P6", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ribosomal protein uL10-like; 60S acidic ribosomal protein P0-like; Large ribosomal subunit protein uL10-like", "protein_names_refseq": "", "tax_id": 9606, "disease": "Down syndrome (Disease Ontology:DOID:14250)", "pathway": "", "pathway_count": 0, "publication_count": 15, "publication_id_list": "26154972;28904123;29437277;29557506;29789417;30315122;30379171;32502341;33141586;33214551;33392160;33981976;34019948;35051231;36010968", "class_list": "", "function": "Ribosomal protein P0 is the functional equivalent of E.coli protein L10., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome;GO:0070180 large ribosomal subunit rRNA binding", "go_cellular_component": "GO:0022625 cytosolic large ribosomal subunit", "go_biological_process": "GO:0042254 ribosome biogenesis;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8NHW5-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969X0-1", "uniprot_id": [ { "id": "RIPL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969X0", "type": "external" } ], "mass": 23986.0, "length": 211, "protein_name": "RILP-like protein 2", "gene_name": "RILPL2", "organism": "Human", "refseq_name": "RILP-like protein 2", "refseq_ac": [ { "id": "NP_659495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659495", "type": "external" } ], "gene_names_uniprotkb": "RILPL2; RLP2", "gene_names_refseq": "RILPL2; RLP2", "protein_names_uniprotkb": "RILP-like protein 2; Rab-interacting lysosomal protein-like 2; p40phox-binding protein", "protein_names_refseq": "RILP-like protein 2; p40phox-binding protein; rab-interacting lysosomal protein-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:196383)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;14668488;23186163;23481700;24714562;25576301;26154972;26375851;26992070;27920218;28063628;28218747;28228285;28352266;28832583;28834231;28904123;29125462;29393594;29437277;29493099;29557506;29632046;30315122;31530632;31844290;32017888;32265295;32357974;32387766;32897882;32938616;32983136;33123756;33298915;33633747;33691108;33727250;33912179;33968037;33981976;34087483;34357683;34561969;35051231;36536539", "class_list": "", "function": "Involved in cell shape and neuronal morphogenesis, positively regulating the establishment and maintenance of dendritic spines (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). May function via activation of RAC1 and PAK1 (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; LRRK2-phosphorylated Rab10 sequesters Myosin Va with RILPL2 during ciliogenesis blockade. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic value of RILPL2 and its correlation with tumor immune microenvironment and glycolysis in non-small cell lung cancer., [RefSeq, PubMed]; Structural Basis for Rab8a Recruitment of RILPL2 via LRRK2 Phosphorylation of Switch 2., [RefSeq, PubMed]; This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046983 protein dimerization activity;GO:0031267 small GTPase binding;GO:0051959 dynein light intermediate chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005929 cilium;GO:0016020 membrane", "go_biological_process": "GO:0060271 cilium assembly;GO:0003382 epithelial cell morphogenesis;GO:1903445 protein transport from ciliary membrane to plasma membrane;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q969X0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96L21-1", "uniprot_id": [ { "id": "RL10L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96L21", "type": "external" } ], "mass": 24519.0, "length": 214, "protein_name": "Ribosomal protein uL16-like", "gene_name": "RPL10L", "organism": "Human", "refseq_name": "ribosomal protein uL16-like", "refseq_ac": [ { "id": "NP_542784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542784", "type": "external" } ], "gene_names_uniprotkb": "RPL10L", "gene_names_refseq": "RPL10L; RPL10_5_1358; SPGF63", "protein_names_uniprotkb": "Ribosomal protein uL16-like; 60S ribosomal protein L10-like; Large ribosomal subunit protein uL16-like", "protein_names_refseq": "60S ribosomal protein L10-like; large ribosomal subunit protein uL16-like; ribosomal protein uL16-like", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability Najm type (Disease Ontology:DOID:0060807); spermatogenic failure 63 (Disease Ontology:DOID:0112356); autistic disorder (Disease Ontology:DOID:12849); spondyloepiphyseal dysplasia congenita (Disease Ontology:DOID:14789); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603)", "pathway": " (hsa:140801); (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": 198, "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;18452278;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19333399;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;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;23636399;23685075;23746841;2388630;24424021;24550520;24714562;25132172;25242263;25469497;25525153;25576301;25578875;25810538;25880248;25901680;25969445;26154972;26237581;27526673;28065601;28132843;28467828;28502657;28685749;29413899;29632312;30244831;30293783;30317246;30484775;30804176;31011209;31154438;32099016;32111475;32579943;32669547;33091337;33298915;33392160;33406423;33592498;33717175;33909987;33936100;34087483;34171305;36302773;37676773;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia., [RefSeq, PubMed]; Testis-specific component of the ribosome, which is required for the transition from prophase to metaphase in male meiosis I (By similarity). Compensates for the inactivated X-linked RPL10 paralog during spermatogenesis (PubMed:12490704). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:32669547). The male germ cell-specific ribosome displays a ribosomal polypeptide exit tunnel of distinct size and charge states compared with the classical ribosome (By similarity). It is responsible for regulating the biosynthesis and folding of a subset of male germ-cell-specific proteins that are essential for the formation of sperm (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; The Cox regression model revealed that only NIP7, RPL10L, and MCM2 exhibited significant correlation with distant recurrence-free survival in liposarcoma in the GSE30929 dataset, and the regression coefficients were -0.676, -0.703, and 0.868, respectively Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein sharing sequence similarity with ribosomal protein L10. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. This gene is intronless. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8IUD1", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane;GO:0005840 ribosome;GO:0022625 cytosolic large ribosomal subunit", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006412 translation;GO:0002181 cytoplasmic translation;GO:0000027 ribosomal large subunit assembly", "synthesized_glycan_count": 0, "hit_score": 19.9, "record_id": "Q96L21-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MK2-1", "uniprot_id": [ { "id": "RIPR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MK2", "type": "external" } ], "mass": 105290.0, "length": 946, "protein_name": "RIPOR family member 3", "gene_name": "RIPOR3", "organism": "Human", "refseq_name": "RIPOR family member 3 isoform 1", "refseq_ac": [ { "id": "NP_543019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543019", "type": "external" } ], "gene_names_uniprotkb": "RIPOR3; C20orf175; C20orf176; FAM65C", "gene_names_refseq": "C20orf175; C20orf176; FAM65C; RIPOR3", "protein_names_uniprotkb": "RIPOR family member 3", "protein_names_refseq": "RIPOR family member 3 isoform 1; family with sequence similarity 65 member C; protein FAM65C", "tax_id": 9606, "disease": "", "pathway": " (hsa:140876)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;18452278;23186163;25548167;26154972;29557506;30379171;32265295;32983136;33592498;35051231;35277469;37217939", "class_list": "", "function": "Downregulated Expression of RIPOR3 Correlated with Immune Infiltrates Predicts Poor Prognosis in Oral Tongue Cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5QPB6;Q9NQQ2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q96MK2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99578-1", "uniprot_id": [ { "id": "RIT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99578", "type": "external" } ], "mass": 24668.0, "length": 217, "protein_name": "GTP-binding protein Rit2", "gene_name": "RIT2", "organism": "Human", "refseq_name": "GTP-binding protein Rit2 isoform 2", "refseq_ac": [ { "id": "NP_001259006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259006", "type": "external" } ], "gene_names_uniprotkb": "RIT2; RIN; ROC2", "gene_names_refseq": "RIBA; RIN; RIT2; ROC2", "protein_names_uniprotkb": "GTP-binding protein Rit2; 3.6.5.2; Ras-like protein expressed in neurons; Ras-like without CAAX protein 2", "protein_names_refseq": "GTP-binding protein Rit2 isoform 2; GTP-binding protein Rit2; GTP-binding protein Roc2; Ric-like, expressed in neurons; ras-like protein expressed in neurons; ras-like without CAAX protein 2", "tax_id": 9606, "disease": "acute myocardial infarction (Disease Ontology:DOID:9408)", "pathway": " (hsa:6014); (R-HSA-187706)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "11237011;12934100;16122393;29860660;30137437;31154438;31818509;31844290;36820223;8824319;8918462", "class_list": "", "function": "Association between RIT2 rs16976358 Polymorphism and Autism Spectrum Disorder in Asian Populations: A Meta-analysis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Association of RIT2 and RAB7L1 with Parkinson's disease: a case-control study in a Taiwanese cohort and a meta-analysis in Asian populations., [RefSeq, PubMed]; Binds and exchanges GTP and GDP. Binds and modulates the activation of POU4F1 as gene expression regulator., [UniProtKB, UniProtKB]; Dabrafenib targets B-Raf, and we confirmed a protein-protein interaction between B-Raf and Rit2, which is coded by RIT2, a Parkinson's disease (PD) risk gene in Asians and Caucasians., [RefSeq, PubMed]; RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008]., [RefSeq]; RIT2 gene was recently introduced as a susceptibility gene in neurological disorders, a group of major problems in human society affecting millions of people worldwide. Several variants, including single nucleotide polymorphisms and CNVs, have been identified and studied in different populations. 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": "B2R9L1;O15295;Q8TD69;Q8WVF6;Q92964", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003924 GTPase activity;GO:0005516 calmodulin binding;GO:0005525 GTP binding;GO:0030215 semaphorin receptor binding", "go_cellular_component": "GO:0097447 dendritic tree;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0032507 maintenance of protein location in cell;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0010976 positive regulation of neuron projection development;GO:0030100 regulation of endocytosis;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q99578-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYZ6-1", "uniprot_id": [ { "id": "RHBT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYZ6", "type": "external" } ], "mass": 82626.0, "length": 727, "protein_name": "Rho-related BTB domain-containing protein 2", "gene_name": "RHOBTB2", "organism": "Human", "refseq_name": "rho-related BTB domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001153508", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153508", "type": "external" } ], "gene_names_uniprotkb": "RHOBTB2; DBC2; KIAA0717", "gene_names_refseq": "DBC2; DEE64; EIEE64; RHOBTB2; p83", "protein_names_uniprotkb": "Rho-related BTB domain-containing protein 2; 3.6.5.2; Deleted in breast cancer 2 gene protein; p83", "protein_names_refseq": "deleted in breast cancer 2 gene protein; rho-related BTB domain-containing protein 2 isoform 1; rho-related BTB domain-containing protein 2", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 64 (Disease Ontology:DOID:0070375)", "pathway": " (hsa:23221); (R-HSA-9013418)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "11237011;12370419;12426103;15107402;15663929;18835386;21801820;24608665;26517842;26740508;26992070;27846572;27920218;27941885;28218747;28832583;28904123;29242379;29276004;29437277;29557506;29768694;30429286;31154438;31217245;31844290;31848261;31871319;32157095;32161166;32357974;32387766;32938616;32983136;33298915;33504645;33912179;33936100;33968037;34074803;34087483;34509645;35051231;35315256;36195378;37090824;37165955;39831600", "class_list": "", "function": "A previously uncharacterized gene, DBC2 (deleted in breast cancer), was cloned from a homozygously deleted region at human chromosome 8p21., [RefSeq, PubMed]; Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders., [RefSeq, PubMed]; Identification of RHOBTB2 aberration as an independent prognostic indicator in acute myeloid leukemia., [RefSeq, PubMed]; Mild head trauma: Acute encephalopathy trigger in children with RHOBTB2 de novo mutation., [RefSeq, PubMed]; Missense variants in the BTB-domain-encoding region of RHOBTB2 as causative for a developmental and epileptic encephalopathy., [RefSeq, PubMed]; RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood., [RefSeq, PubMed]; Regulator of cell proliferation and apoptosis (PubMed:21801820). It likely functions as a substrate-adapter that recruits key substrates, e.g. MSI2, to CUL3-based ubiquitin ligase complexes for degradation (PubMed:15107402, PubMed:27941885). Required for MSI2 ubiquitination and degradation (PubMed:27941885)., [UniProtKB, PubMed, PubMed, PubMed]; Regulator of cell proliferation and apoptosis. It likely functions as a substrate-adapter that recruits key substrates, e.g. MSI2, to CUL3-based ubiquitin ligase complexes for degradation. Required for MSI2 ubiquitination and degradation., [UniProtKB, UniProtKB]; The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; Two networks were found to react substantially to DBC2 expression--one of the networks regulates cell growth through cell-cycle control and apoptosis; the other network is related to cytoskeleton and membrane trafficking, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K9Z8;D3DSR8;E9PBU2;E9PEI7;O94825;Q8N4A8;Q9BZK6", "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": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "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:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle;GO:0010008 endosome membrane;GO:0042995 cell projection", "go_biological_process": "GO:0007015 actin filament organization;GO:0007165 signal transduction;GO:0032956 regulation of actin cytoskeleton organization;GO:0007264 small GTPase-mediated signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9BYZ6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1E1-1", "uniprot_id": [ { "id": "RNAS7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1E1", "type": "external" } ], "mass": 17419.0, "length": 156, "protein_name": "Ribonuclease 7", "gene_name": "RNASE7", "organism": "Human", "refseq_name": "ribonuclease 7 precursor", "refseq_ac": [ { "id": "NP_115961", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115961", "type": "external" } ], "gene_names_uniprotkb": "RNASE7; PRO6006", "gene_names_refseq": "RAE1; RNASE7", "protein_names_uniprotkb": "Ribonuclease 7; 3.1.27.-; RNase 7; SAP-2; Skin-derived antimicrobial protein 2", "protein_names_refseq": "RNase 7; SAP-2; ribonuclease 7 precursor; ribonuclease 7; ribonuclease, RNase A family, 7; skin-derived antimicrobial protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84659); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "11120840;11313366;11389039;11971875;12244054;12493837;12527768;12975309;13816;14506276;14739326;1522221;15229136;15778384;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16374474;16799473;16931762;16940129;17150966;17363965;17502600;17567961;17964057;18021746;18160480;18185531;18673279;19095652;19179970;19254208;19262607;19818633;20103720;20180804;20382864;20395631;20510021;20845358;21787330;22262861;22327069;22455996;22701042;23302724;23426625;24219363;24256734;25075772;25461571;25596890;26148048;27089320;31978413;32705284;3286634;33818125;34779412;35563546;9523110;9665269;9756476", "class_list": "", "function": "Exhibits a potent RNase activity (PubMed:12244054, PubMed:12527768, PubMed:17150966). Has broad-spectrum antimicrobial activity against many pathogenic microorganisms including uropathogenic E.coli (UPEC), and remarkably potent activity (lethal dose of 90% < 30 nM) against a vancomycin resistant Enterococcus faecium (PubMed:12244054, PubMed:12527768, PubMed:17150966, PubMed:25075772, PubMed:33818125). Causes loss of bacterial membrane integrity (PubMed:17150966). Probably contributes to urinary tract sterility (PubMed:25075772). Bactericidal activity is independent of RNase activity (PubMed:17150966)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Involvement of RNase 7 in the malignant potential of oral squamous cell carcinoma cells., [RefSeq, PubMed]; Proteases contribute indirectly to the defense function of the stratum corneum by releasing the RNase inhibitor mediated inhibition of RNase 5 and RNase 7., [RefSeq, PubMed]; RNase 7 Inhibits Uropathogenic Escherichia coli-Induced Inflammation in Bladder Cells under a High-Glucose Environment by Regulating the JAK/STAT Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; RNase 7 Promotes Sensing of Self-DNA by Human Keratinocytes and Activates an Antiviral Immune Response., [RefSeq, PubMed]; RNase 7 is an antimicrobial protein that plays an important role in the innate immune defense system of human epithelia., [RefSeq, PubMed]; Ribonuclease 7 polymorphism rs1263872 reduces antimicrobial activity and associates with pediatric urinary tract infections., [RefSeq, PubMed]; The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein has broad-spectrum antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "P80927;P83685;Q546N3", "ec_number_list": [ { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" } ], "go_molecular_function": "GO:0042834 peptidoglycan binding;GO:0016787 hydrolase activity;GO:0003676 nucleic acid binding;GO:0004519 endonuclease activity;GO:0004540 RNA nuclease activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9H1E1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H426-1", "uniprot_id": [ { "id": "RIMS4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H426", "type": "external" } ], "mass": 29329.0, "length": 269, "protein_name": "Regulating synaptic membrane exocytosis protein 4", "gene_name": "RIMS4", "organism": "Human", "refseq_name": "regulating synaptic membrane exocytosis protein 4 isoform 1", "refseq_ac": [ { "id": "NP_001192246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192246", "type": "external" } ], "gene_names_uniprotkb": "RIMS4; C20orf190", "gene_names_refseq": "C20orf190; RIM 4; RIM-4; RIM4-gamma; RIM4gamma; RIM4; RIMS4", "protein_names_uniprotkb": "Regulating synaptic membrane exocytosis protein 4; RIM 4; RIM4 gamma; Rab3-interacting molecule 4", "protein_names_refseq": "RIM4 gamma; rab3-interacting molecule 4; regulating synaptic membrane exocytosis protein 4 isoform 1; regulating synaptic membrane exocytosis protein 4", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:140730)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "12620390;17525332;28832583", "class_list": "", "function": "Regulates synaptic membrane exocytosis., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4FU94;E1P613;Q3MI44;Q5JWT7", "ec_number_list": [], "go_molecular_function": "GO:0044325 transmembrane transporter binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0048786 presynaptic active zone;GO:0097060 synaptic membrane", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0006887 exocytosis;GO:0006836 neurotransmitter transport;GO:2000300 regulation of synaptic vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9H426-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSD7-1", "uniprot_id": [ { "id": "RL3R1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSD7", "type": "external" } ], "mass": 51124.0, "length": 469, "protein_name": "Relaxin-3 receptor 1", "gene_name": "RXFP3", "organism": "Human", "refseq_name": "relaxin-3 receptor 1", "refseq_ac": [ { "id": "NP_057652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057652", "type": "external" } ], "gene_names_uniprotkb": "RXFP3; GPCR135; RLN3R1; SALPR", "gene_names_refseq": "GPCR135; RLN3R1; RXFP3; RXFPR3; SALPR", "protein_names_uniprotkb": "Relaxin-3 receptor 1; G protein-coupled receptor GPCR135; G protein-coupled receptor SALPR; RLN3 receptor 1; Relaxin family peptide receptor 3; Somatostatin- and angiotensin-like peptide receptor", "protein_names_refseq": "G-protein coupled receptor GPCR135; G-protein coupled receptor SALPR; RLN3 receptor 1; g protein-coupled receptor SALPR; relaxin-3 receptor 1; relaxin/insulin like family peptide receptor 3; somatostatin and angiotensin-like peptide receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:51289); (R-HSA-418594); (R-HSA-444821)", "pathway_count": 3, "publication_count": 27, "publication_id_list": "10806363;11007482;12120503;12506116;14522967;14522968;15465925;15525639;15951850;16634148;16923326;18434541;18577758;2534964;2748346;2834384;29159832;30684458;31530632;32387766;32810565;34537263;35051231;37967073;7937899;8015379;8406495", "class_list": "", "function": "GPCR135 (SALPR) is the receptor for relaxin-3, [RefSeq, PubMed]; Hydrophobic interactions of relaxin family peptide receptor 3 with ligands identified using a NanoBiT-based binding assay., [RefSeq, PubMed]; Investigating the role of the relaxin-3/RXFP3 system in neuropsychiatric disorders and metabolic phenotypes: A candidate gene approach. Publication Status: Online-Only, [RefSeq, PubMed]; Present work shed new light on the interaction mechanism of RXFP3 and RXFP4 with agonists and antagonists, and also provided a novel approach for interaction studies of some plasma membrane receptors with their ligands., [RefSeq, PubMed]; Receptor for RNL3/relaxin-3. Binding of the ligand inhibit cAMP accumulation., [UniProtKB, PubMed]; Substitution of the relaxin-3 A-chain with the A-chain from insulin-like peptide 5 results in a chimeric peptide that selectively activates GPCR135 and GPCR142., [RefSeq, PubMed]; The putative role of the relaxin-3/RXFP3 system in clinical depression and anxiety: A systematic literature review., [RefSeq, PubMed]; This study indicated that RXFP3 mainly localised in the post-acrosomal region of sperm head and neck., [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": 37, "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": "Q14DA5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004966 galanin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0032467 positive regulation of cytokinesis", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9NSD7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSQ0-1", "uniprot_id": [ { "id": "RRP7B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSQ0", "type": "external" } ], "mass": 12575.0, "length": 103, "protein_name": "Putative ribosomal RNA-processing protein 7 homolog B", "gene_name": "RRP7BP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RRP7BP; RRP7B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ribosomal RNA-processing protein 7 homolog B; Putative gastric cancer antigen Zg14-like protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "primary microcephaly (Disease Ontology:DOID:0070297)", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "16303743;29557506;31844290;31848261", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQ98", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032545 CURI complex;GO:0034456 UTP-C complex", "go_biological_process": "GO:0006364 rRNA processing;GO:0000028 ribosomal small subunit assembly", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9NSQ0-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXI6-1", "uniprot_id": [ { "id": "RN186_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXI6", "type": "external" } ], "mass": 24145.0, "length": 227, "protein_name": "E3 ubiquitin-protein ligase RNF186", "gene_name": "RNF186", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF186", "refseq_ac": [ { "id": "NP_061935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061935", "type": "external" } ], "gene_names_uniprotkb": "RNF186", "gene_names_refseq": "RNF186", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF186; 2.3.2.27; RING finger protein 186", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF186", "tax_id": 9606, "disease": "", "pathway": " (hsa:54546)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "23511034;23896122;24068945;31586034;32882406;32938616;33280498;34353900;34623328;35051231;38160786", "class_list": "", "function": "BNip1 functions as a downstream modulator of RNF186 to direct endoplasmic reticulum stress-associated apoptotic signaling., [RefSeq, PubMed]; E3 ubiquitin protein ligase that is part of an apoptotic signaling pathway activated by endoplasmic reticulum stress (PubMed:23896122). Stimulates the expression of proteins specific of the unfolded protein response (UPR), ubiquitinates BNIP1 and regulates its localization to the mitochondrion and induces calcium release from the endoplasmic reticulum that ultimately leads to cell apoptosis (PubMed:23896122). Plays a role in the maintenance of intestinal homeostasis and clearance of enteric pathogens. Upon NOD2 stimulation, ubiquitinates the ER stress sensor activating transcription factor 6/ATF6 and promotes the unfolded protein response UPR (PubMed:34623328). Participates in basal level of autophagy maintenance by regulating the ubiquitination of EPHB2 and EPHB3. Upon stimulation by ligand EFNB1, ubiquitinates EPHB2 and further recruits MAP1LC3B for autophagy induction (PubMed:33280498). Controls nutrient sensing by ubiquitinating Sestrin-2/SESN2, which is an intracellular sensor of cytosolic leucine and inhibitor of mTORC1 activity (PubMed:31586034)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Our results confirmed significant association to rare non-synonymous coding variants in both IL23R and CARD9, previously identified from sequencing of CD loci, as well as identified a novel association in RNF186, [RefSeq, PubMed]; Single-nucleotide polymorphism in RNF186 gene is associated with ulcerative colitis., [RefSeq, PubMed]; Systematic pan-cancer analysis of RNF186 with potential implications in progression and prognosis in human cancer., [RefSeq, PubMed]; The E3 ubiquitin ligase RNF186 and RNF186 risk variants regulate innate receptor-induced outcomes., [RefSeq, PubMed]; The role and mechanism of action of RNF186 in colorectal cancer through negative regulation of NF-kappaB., [RefSeq, PubMed]; Ubiquitination of ATF6 by disease-associated RNF186 promotes the innate receptor-induced unfolded protein response., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53GE0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031625 ubiquitin protein ligase binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0070585 protein localization to mitochondrion;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0051865 protein autoubiquitination;GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;GO:0070534 protein K63-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9NXI6-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3B9-1", "uniprot_id": [ { "id": "RRP15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3B9", "type": "external" } ], "mass": 31484.0, "length": 282, "protein_name": "RRP15-like protein", "gene_name": "RRP15", "organism": "Human", "refseq_name": "RRP15-like protein", "refseq_ac": [ { "id": "NP_057136", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057136", "type": "external" } ], "gene_names_uniprotkb": "RRP15; CGI-115; KIAA0507", "gene_names_refseq": "CGI-115; KIAA0507; RRP15", "protein_names_uniprotkb": "RRP15-like protein; Ribosomal RNA-processing protein 15", "protein_names_refseq": "RRP15-like protein; ribosomal RNA-processing protein 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:51018)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "15302935;15769876;17081983;18452278;18669648;19007248;19413330;19415658;19651622;19691289;20068231;21406692;23186163;23301498;24715725;25114211;25218447;25576301;26154972;26992070;28099941;28218747;28510447;28832583;28855257;28904123;29242379;29437277;29493099;29508533;29557506;29632711;30315122;30429286;30833945;31154438;31844290;31848261;32157095;32265295;32350084;32387766;32488085;32502341;32938616;33392160;33592498;33968037;34019948;34229054;34343634;35251023;35580925;36010968;36215666;36284347;36750557;36834940;40914422", "class_list": "", "function": "Data suggest that ribosomal RNA-processing protein 15 (RRP15) might be a potential target for cancer therapy., [RefSeq, PubMed]; Inhibition of Ribosomal RNA Processing 15 Homolog (RRP15) Suppressed Tumor Growth, Invasion and Epithelial to Mesenchymal Transition (EMT) of Colon Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of ribosomal RNA processing 15 Homolog (RRP15), which is overexpressed in hepatocellular carcinoma, suppresses tumour growth via induction of senescence and apoptosis., [RefSeq, PubMed]; RRP15 deficiency induces ribosome stress to inhibit colorectal cancer proliferation and metastasis via LZTS2-mediated beta-catenin suppression. Publication Status: Online-Only, [RefSeq, PubMed]; The budding yeast homolog of human RRP15 is required for maturation of 60S ribosomal particles, [RefSeq, PubMed]; This gene encodes a protein that co-purifies with human nucleoli. A similar protein in budding yeast is a component of pre-60S ribosomal particles, and is required for the early maturation steps of the 60S subunit. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO: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": 6.2, "record_id": "Q9Y3B9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05452-1", "uniprot_id": [ { "id": "TETN_HUMAN", "url": "https://www.uniprot.org/uniprot/P05452", "type": "external" } ], "mass": 22537.0, "length": 202, "protein_name": "Tetranectin", "gene_name": "CLEC3B", "organism": "Human", "refseq_name": "tetranectin isoform 1precursor", "refseq_ac": [ { "id": "NP_003269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003269", "type": "external" } ], "gene_names_uniprotkb": "CLEC3B; TNA", "gene_names_refseq": "CLEC3B; MCDR4; TNA; TN", "protein_names_uniprotkb": "Tetranectin; C-type lectin domain family 3 member B; Plasminogen kringle 4-binding protein; TN", "protein_names_refseq": "plasminogen kringle 4-binding protein; tetranectin (plasminogen-binding protein); tetranectin isoform 1precursor", "tax_id": 9606, "disease": "retinal macular dystrophy 4 (Disease Ontology:DOID:0070441); Scheuermann's disease (Disease Ontology:DOID:13300); osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:7123); (R-HSA-114608)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10614823;11237011;1354271;1435334;14630798;1511740;15297306;15489334;16641997;21081667;2298916;23640497;24275569;2533389;27726376;30066941;3009181;30429286;30858459;31477130;31570938;32696821;32983136;33091337;33968037;3427041;35051231;35251023;35331648;35500520;35580925;37310463;6457647;8467233;9256258;9757090", "class_list": "glycogene", "function": "CLEC3B acts as a novel independent prognostic factor Publication Status: Online-Only, [RefSeq, PubMed]; CLEC3B alleviated the injury of hypoxic H9c2 cardiomyocytes via the PI3K/Akt pathway, [RefSeq, PubMed]; CLEC3B p.S106G Mutant in a Caucasian Population of Successful Neurological Aging., [RefSeq, PubMed]; Down-regulation of CLEC3B facilitates epithelial-mesenchymal transition, migration and invasion of lung adenocarcinoma cells., [RefSeq, PubMed]; Tetranectin as a potential novel prognostic biomarker in anthracycline-related cardiac dysfunction., [RefSeq, PubMed]; Tetranectin binds to plasminogen and to isolated kringle 4. May be involved in the packaging of molecules destined for exocytosis. Plays a role in retinal function (PubMed:35331648)., [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": 244, "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": "Q6FGX6", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0005509 calcium ion binding;GO:0030246 carbohydrate binding;GO:0036143 kringle domain binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0010756 positive regulation of plasminogen activation;GO:0001503 ossification;GO:0030282 bone mineralization", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P05452-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95455-1", "uniprot_id": [ { "id": "TGDS_HUMAN", "url": "https://www.uniprot.org/uniprot/O95455", "type": "external" } ], "mass": 40214.0, "length": 350, "protein_name": "UDP-D-glucose 4,6-dehydratase", "gene_name": "TGDS", "organism": "Human", "refseq_name": "UDP-D-glucose 4,6-dehydratase isoform 2", "refseq_ac": [ { "id": "NP_001291359", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291359", "type": "external" } ], "gene_names_uniprotkb": "TGDS", "gene_names_refseq": "CATMANS; SDR2E1; TDPGD; TGDS", "protein_names_uniprotkb": "UDP-D-glucose 4,6-dehydratase; 4.2.1.76; dTDP-D-glucose 4,6-dehydratase", "protein_names_refseq": "UDP-D-glucose 4,6-dehydratase isoform 2; UDP-D-glucose 4,6-dehydratase; dTDP-D-glucose 4,6-dehydratase; growth-inhibiting protein 21; short chain dehydrogenase/reductase family 2E, member 1", "tax_id": 9606, "disease": "Catel Manzke syndrome (Disease Ontology:DOID:0081122)", "pathway": " (hsa:23483)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "18501694;22887726;23481700;25480037;25576301;25892735;26154972;26366375;26992070;27600516;28218747;28228285;28422407;28832583;28904123;29242379;29493099;29557506;30315122;30429286;31217245;31769200;31833187;31844290;32157095;32161166;32387766;32897882;32938616;33537174;33592498;33717175;33912179;33936100;33968037;34171305;34185709;34561969;35051231;35580925;36010968;36284347;37938771;40836090;9777339", "class_list": "glycogene", "function": "By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome., [RefSeq, PubMed]; Catel-Manzke syndrome without Manzke dysostosis., [RefSeq, PubMed]; Our findings widen the phenotype spectrum caused by TGDS mutations and underline the phenotypic overlap with Temtamy preaxial brachydactyly syndrome. This improves our understanding of the prenatal development and the pathogenetic mechanism of Catel-Manzke syndrome., [RefSeq, PubMed]; TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy., [RefSeq, PubMed]; TGDS produces UDP-4-keto-6-deoxyglucose, a mimic of the reaction intermediate of the enzyme UXS1, which rescues inactive UXS1 by regenerating NAD+ within the catalytic pocket of UXS1., [RefSeq, PubMed]; The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]; UDP-glucose 4,6-dehydratase that converts UDP-glucose into UDP-4-keto-6-deoxyglucose, and which is required for glycosaminoglycan biosynthesis and skeletal development (PubMed:40836090). UDP-4-keto-6-deoxyglucose is a mimic of the reaction intermediate of UXS1 and acts as an enzyme-rescue metabolite to promote the completion of UXS1 catalytic cycle when NAD(+) levels are low (PubMed:40836090). Under low NAD(+) conditions, UXS1 forms an inactive UDP-4-ketoxylose intermediate bound to NADH, impairing the synthesis of specific glycans that are essential for skeletal development (PubMed:40836090). UDP-4-keto-6-deoxyglucose is used by the inactive NADH-bound UXS1 to produce UDP-6-deoxyglucose and NAD(+) within the catalytic pocket of UXS1, regenerating the essential cofactor NAD(+) (PubMed:40836090)., [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": 433, "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": "Q05DQ3;Q2TU31;Q5T3Z2;Q9H1T9", "ec_number_list": [ { "id": "4.2.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.76", "type": "external" } ], "go_molecular_function": "GO:0008460 dTDP-glucose 4,6-dehydratase activity;GO:0050377 UDP-glucose 4,6-dehydratase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006024 glycosaminoglycan biosynthetic process;GO:0009225 nucleotide-sugar metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "O95455-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95932-1", "uniprot_id": [ { "id": "TGM3L_HUMAN", "url": "https://www.uniprot.org/uniprot/O95932", "type": "external" } ], "mass": 79312.0, "length": 706, "protein_name": "Protein-glutamine gamma-glutamyltransferase 6", "gene_name": "TGM6", "organism": "Human", "refseq_name": "protein-glutamine gamma-glutamyltransferase 6 isoform 2", "refseq_ac": [ { "id": "NP_001241663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241663", "type": "external" } ], "gene_names_uniprotkb": "TGM6; TGM3L", "gene_names_refseq": "SCA35; TG6; TGM3L; TGM6; TGY; dJ734P14.3", "protein_names_uniprotkb": "Protein-glutamine gamma-glutamyltransferase 6; 2.3.2.13; TG6; TGY; TGase Y; TGase-3-like; TGase-6; Transglutaminase Y; Transglutaminase-3-like; Transglutaminase-6", "protein_names_refseq": "TGase Y; TGase-6; protein-glutamine gamma-glutamyltransferase 6 isoform 2; protein-glutamine gamma-glutamyltransferase 6; transglutaminase y", "tax_id": 9606, "disease": "spinocerebellar ataxia 35 (Disease Ontology:DOID:0050982)", "pathway": " (hsa:343641)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "18825674;20300788;21106500;22554020;23206699;25253745;25576301;27600516;29053796;30287856;30379171;30524438;30670339;31154438;31222486;32259886;32357974;32938616;33141586;33588035;34185709;35051231;35580925", "class_list": "", "function": "Antibodies against transglutaminase 6 can serve as marker antibodies to identify a subgroup of patients with gluten sensitivity who may be at risk for development of neurological disease., [RefSeq, PubMed]; Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins., [UniProtKB]; Findings lend credence to the notion that TG3 and TG6 are involved in the gluten-induced autoimmune responses of dermatitis herpetiformis and gluten ataxia, [RefSeq, PubMed]; Rs6114027 risk allele related to decreased transcripts in peripheral blood mononuclear cells from pulmonary tuberculosis patients Publication Status: Online-Only, [RefSeq, PubMed]; TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study., [RefSeq, PubMed]; TGM6 variants in Parkinson's disease: clinical findings and functional evidence., [RefSeq, PubMed]; The finding of TGM6 as a novel causative gene of spinocerebellar ataxia illustrates whole-exome sequencing of affected individuals from one family, [RefSeq, PubMed]; The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; We identified 8 families with reported TGM6 variants sharing no features of Spinocerebellar ataxia 35, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JXU4;Q5JXU5;Q719M2;Q719M3;Q9Y4U8", "ec_number_list": [ { "id": "2.3.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.13", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.5.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.44", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0003810 protein-glutamine gamma-glutamyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0018149 peptide cross-linking", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "O95932-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08188-1", "uniprot_id": [ { "id": "TGM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08188", "type": "external" } ], "mass": 76632.0, "length": 693, "protein_name": "Protein-glutamine gamma-glutamyltransferase E", "gene_name": "TGM3", "organism": "Human", "refseq_name": "protein-glutamine gamma-glutamyltransferase E", "refseq_ac": [ { "id": "NP_003236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003236", "type": "external" } ], "gene_names_uniprotkb": "TGM3", "gene_names_refseq": "TGE; TGM3; UHS2", "protein_names_uniprotkb": "Protein-glutamine gamma-glutamyltransferase E; 2.3.2.13; TG(E); TGE; TGase E; TGase-3; Transglutaminase E; Transglutaminase-3", "protein_names_refseq": "E polypeptide, protein-glutamine-gamma-glutamyltransferase; TG(E); TGase E; TGase-3; protein-glutamine gamma-glutamyltransferase E; transglutaminase E", "tax_id": 9606, "disease": "uncombable hair syndrome 2 (MONDO:MONDO:0014989)", "pathway": " (hsa:7053)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11980702;12679341;16565075;19651622;19690332;24715725;25418920;26374642;26375851;26992070;27397612;27862975;27866708;28218747;28228285;28649982;29437277;29508533;29789417;30397120;30833945;31154438;31844290;32157095;32983136;33912179;34078123;34087483;34171305;34597849;35051231;36356335;37424036;37812238;37938771;38665916;39146185;8099584", "class_list": "", "function": "Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold (By similarity). In hair follicles, involved in cross-linking structural proteins to hardening the inner root sheath., [UniProtKB]; Circular RNA ciRS-7 promotes laryngeal squamous cell carcinoma development by inducing TGM3 hypermethylation via miR-432-5p/DNMT3B axis., [RefSeq, PubMed]; Separate Gut Plasma Cell Populations Produce Auto-Antibodies against Transglutaminase 2 and Transglutaminase 3 in Dermatitis Herpetiformis. Erratum:[Adv Sci (Weinh). 2024 Jun;11(21):e2400894. doi: 10.1002/advs.202400894. PMID: 38477397], [RefSeq, PubMed]; TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis upon LKB1 inactivation., [RefSeq, PubMed]; Transglutaminase 3 expression in hepatocellular carcinoma patients: Correlation with tumor features and survival profile., [RefSeq, PubMed]; Transglutaminase 3 suppresses proliferation and cisplatin resistance of cervical cancer cells by inactivation of the PI3K/AKT pathway., [RefSeq, PubMed]; Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5N6;B2RCR6;D3DVX1;O95933;Q32ML9;Q32MM0", "ec_number_list": [ { "id": "2.3.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.13", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.5.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.44", "type": "external" } ], "go_molecular_function": "GO:0005198 structural molecule activity;GO:0005509 calcium ion binding;GO:0003824 catalytic activity;GO:0016746 acyltransferase activity;GO:0003810 protein-glutamine gamma-glutamyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031234 extrinsic component of cytoplasmic side of plasma membrane;GO:0070062 extracellular exosome;GO:0032991 protein-containing complex", "go_biological_process": "GO:0036211 protein modification process;GO:0031424 keratinization;GO:0030216 keratinocyte differentiation;GO:0018149 peptide cross-linking;GO:0031069 hair follicle morphogenesis", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q08188-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3Y452-1", "uniprot_id": [ { "id": "TDRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3Y452", "type": "external" } ], "mass": 10472.0, "length": 100, "protein_name": "Testis development-related protein 1", "gene_name": "TDRG1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TDRG1", "gene_names_refseq": "", "protein_names_uniprotkb": "Testis development-related protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "22123530;35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q3Y452-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43159-1", "uniprot_id": [ { "id": "RRP8_HUMAN", "url": "https://www.uniprot.org/uniprot/O43159", "type": "external" } ], "mass": 50715.0, "length": 456, "protein_name": "Ribosomal RNA-processing protein 8", "gene_name": "RRP8", "organism": "Human", "refseq_name": "ribosomal RNA-processing protein 8", "refseq_ac": [ { "id": "NP_056139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056139", "type": "external" } ], "gene_names_uniprotkb": "RRP8; KIAA0409; NML; hucep-1", "gene_names_refseq": "KIAA0409; NML; RRP8", "protein_names_uniprotkb": "Ribosomal RNA-processing protein 8; 2.1.1.-; Cerebral protein 1; Nucleomethylin", "protein_names_refseq": "RRP8 methyltransferase homolog; cerebral protein 1; nucleomethylin; ribosomal RNA processing 8, methyltransferase, homolog; ribosomal RNA-processing protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:23378); (R-HSA-427359)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "11237011;11790298;12429849;15469825;16565220;16964243;17081983;17287340;18452278;18485871;18669648;19007248;19413330;19415658;19651622;19690332;19691289;20068231;22645359;23186163;23301498;23897426;24275569;24714562;25418920;25645385;26154972;26992070;27149924;28121444;28228285;28832583;29242379;29493099;29557506;29786170;30429286;31217245;31844290;32157095;32387766;32502341;32897882;32938616;32983136;33392160;33465208;33633747;33717175;33912179;34509645;35051231;35580925;36284347;40596516", "class_list": "", "function": "Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds to H3K9me2 and probably acts as a methyltransferase. Its substrates are however unknown., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; NML depletion increases 60S ribosomal protein L11 (RPL11) levels in the ribosome-free fraction and protein levels of p53 through an RPL11-MDM2 complex, which activates the p53 pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q7KZ78;Q9BVM6", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0008168 methyltransferase activity;GO:0062072 histone H3K9me2/3 reader activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0005677 chromatin silencing complex;GO:0033553 rDNA heterochromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0097009 energy homeostasis;GO:0042149 cellular response to glucose starvation;GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "O43159-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13667-1", "uniprot_id": [ { "id": "PDIA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P13667", "type": "external" } ], "mass": 72932.0, "length": 645, "protein_name": "Protein disulfide-isomerase A4", "gene_name": "PDIA4", "organism": "Human", "refseq_name": "protein disulfide-isomerase A4 isoform 2 precursor", "refseq_ac": [ { "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902", "type": "external" } ], "gene_names_uniprotkb": "PDIA4; ERP70; ERP72", "gene_names_refseq": "ERP70; ERP72; ERp-72; PDIA4", "protein_names_uniprotkb": "Protein disulfide-isomerase A4; 5.3.4.1; ER protein 70; ER protein 72; ERp-72; ERp70; ERp72; Endoplasmic reticulum resident protein 70; Endoplasmic reticulum resident protein 72", "protein_names_refseq": "ER protein 70; ER protein 72; endoplasmic reticulum resident protein 70; endoplasmic reticulum resident protein 72; protein disulfide isomerase related protein (calcium-binding protein, intestinal-related); protein disulfide isomerase-associated 4; protein disulfide-isomerase A4 isoform 2 precursor; protein disulfide-isomerase A4; testicular tissue protein Li 137", "tax_id": 9606, "disease": "", "pathway": " (hsa:9601)", "pathway_count": 1, "publication_count": 112, "publication_id_list": "11237011;12475965;12643545;17081065;19608861;20068231;20600112;21081667;21654843;23481700;24714562;24715725;2549034;25502872;25576301;25645385;25880248;26154972;26375851;26853435;26992070;27090790;27452731;27600516;27846572;27920218;28218747;28228285;28352266;28467828;28649982;28832583;28834231;28904123;29242379;29314611;29317506;29331515;29393594;29493099;29508533;29557506;29632711;29774024;29786170;30315122;30397120;30429286;30444036;30573663;30779550;30833945;31020640;31154438;31217245;31611695;31844290;31848261;31937595;32119511;32157095;32161166;32162841;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34433824;34725712;35051231;35083852;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37720188;38140584;38167446;38612722;38665916;39348977;40596516;40914422;7584149", "class_list": "", "function": "LncRNA FAM225B Regulates PDIA4-Mediated Ovarian Cancer Cell Invasion and Migration via Modulating Transcription Factor DDX17. Publication Status: Online-Only, [RefSeq, PubMed]; PDIA4 Is a Host Factor Important for Lymphocytic Choriomeningitis Virus Infection. Publication Status: Online-Only, [RefSeq, PubMed]; Potential Anti-tumor Properties of PDIA4 in Lung Adenocarcinoma., [RefSeq, PubMed]; Protein Disulfide Isomerase 4 Is an Essential Regulator of Endothelial Function and Survival. Publication Status: Online-Only, [RefSeq, PubMed]; Protein disulfide isomerase family member 4 promotes triple-negative breast cancer tumorigenesis and radiotherapy resistance through JNK pathway. 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, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [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": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "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": "A8K4K6;Q549T6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0015035 protein-disulfide reductase activity;GO:0003756 protein disulfide isomerase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0009986 cell surface;GO:0042470 melanosome", "go_biological_process": "GO:0006457 protein folding;GO:0009306 protein secretion;GO:0034976 response to endoplasmic reticulum stress", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "P13667-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NC24-1", "uniprot_id": [ { "id": "RELL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NC24", "type": "external" } ], "mass": 32405.0, "length": 303, "protein_name": "RELT-like protein 2", "gene_name": "RELL2", "organism": "Human", "refseq_name": "RELT-like protein 2", "refseq_ac": [ { "id": "NP_001123501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123501", "type": "external" } ], "gene_names_uniprotkb": "RELL2; C5orf16; PRO34565", "gene_names_refseq": "C5orf16; RELL2", "protein_names_uniprotkb": "RELT-like protein 2", "protein_names_refseq": "RELT-like protein 2; receptor expressed in lymphoid tissues like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:285613)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12975309;16303743;16389068;19969290;22052202;27846572;27920218;28688764;29493099;33298915;35634441", "class_list": "", "function": "Binds to the TNF receptor family member RELT; homologue of RELT., [RefSeq, PubMed]; Comprehensive Analysis of RELL2 as a Potential Biomarker Associated with Tumor Immune Infiltrating Cells in a Pan-Cancer Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Induces activation of MAPK14/p38 cascade, when overexpressed (PubMed:28688764). Induces apoptosis, when overexpressed (PubMed:19969290)., [UniProtKB, PubMed, PubMed]; Report that overexpression of RELT or its homologues RELL1 and RELL2 in HEK 293 epithelial cells results in cell death with morphological characteristics consistent with the activation of an apoptotic pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "D3DQE2;Q6P4E7;Q6UXY2", "ec_number_list": [], "go_molecular_function": "GO:0005518 collagen binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005604 basement membrane", "go_biological_process": "GO:0010811 positive regulation of cell-substrate adhesion;GO:1900745 positive regulation of p38MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8NC24-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GUV7-1", "uniprot_id": [ { "id": "TEX48_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GUV7", "type": "external" } ], "mass": 13937.0, "length": 120, "protein_name": "Testis-expressed protein 48", "gene_name": "TEX48", "organism": "Human", "refseq_name": "testis-expressed protein 48 isoform 1", "refseq_ac": [ { "id": "NP_001186162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186162", "type": "external" } ], "gene_names_uniprotkb": "TEX48", "gene_names_refseq": "TEX48", "protein_names_uniprotkb": "Testis-expressed protein 48", "protein_names_refseq": "testis-expressed protein 48 isoform 1; testis-expressed protein 48", "tax_id": 9606, "disease": "", "pathway": " (hsa:100505478)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1B0GUV7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCN4-1", "uniprot_id": [ { "id": "RN169_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCN4", "type": "external" } ], "mass": 77194.0, "length": 708, "protein_name": "E3 ubiquitin-protein ligase RNF169", "gene_name": "RNF169", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF169", "refseq_ac": [ { "id": "NP_001092108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092108", "type": "external" } ], "gene_names_uniprotkb": "RNF169; KIAA1991", "gene_names_refseq": "RNF169", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF169; 2.3.2.27; RING finger protein 169; RING-type E3 ubiquitin transferase RNF169", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF169; RING-type E3 ubiquitin transferase RNF169", "tax_id": 9606, "disease": "", "pathway": " (hsa:254225)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;12056414;17081983;18452278;18669648;18691976;19007248;19413330;19664995;19690332;19691289;20068231;22492721;22733822;22742833;23186163;23301498;24275569;25576301;26992070;27846572;28406400;28506460;28904123;29493099;29557506;30104380;30429286;30773093;30979931;31844290;32157095;32488085;32502341;32938616;33141586;33469661;33936100;33968037;33981976;34211107;35051231;35580925", "class_list": "", "function": "A comprehensive proteomics-based interaction screen that links DYRK1A to RNF169 and to the DNA damage response. Publication Status: Online-Only, [RefSeq, PubMed]; Probable E3 ubiquitin-protein ligase that acts as a regulator of double-strand breaks (DSBs) repair following DNA damage. Functions in a non-canonical fashion to harness RNF168-mediated protein recruitment to DSB-containing chromatin, thereby contributing to regulation of DSB repair pathway utilization (PubMed:22492721, PubMed:30773093). Once recruited to DSB repair sites by recognizing and binding ubiquitin catalyzed by RNF168, competes with TP53BP1 and BRCA1 for association with RNF168-modified chromatin, thereby favouring homologous recombination repair (HRR) and single-strand annealing (SSA) instead of non-homologous end joining (NHEJ) mediated by TP53BP1 (PubMed:30104380, PubMed:30773093). E3 ubiquitin-protein ligase activity is not required for regulation of DSBs repair., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Results highlight the interplay of RNF169 with 53BP1 in fine-tuning choice of DSB repair pathways., [RefSeq, PubMed]; Results show that RNF169 functions in a noncanonical fashion to harness RNF168-mediated protein recruitment to DSB-containing chromatin, thereby contributing to regulation of DSB repair pathway utilization., [RefSeq, PubMed]; The authors establish that RNF169 binds to ubiquitylated histone H2A-Lys13/Lys15 in a manner that involves its canonical ubiquitin-binding helix and a pair of arginine-rich motifs that interact with the nucleosome acidic patch. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin ligases RNF168, RNF169, and RAD18 specifically bind histone H2A Lys13/15-ubiquitylated nucleosomes. 53BP1 chromatin recruitment may be activated by RNF168 and blocked by RNF169 and RAD18., [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": 27, "reported_mutagensis": 8, "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": "Q6N015", "ec_number_list": [], "go_molecular_function": "GO:0061649 ubiquitin-modified histone reader activity;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0031491 nucleosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:2000780 negative regulation of double-strand break repair;GO:0006974 DNA damage response;GO:0006302 double-strand break repair;GO:0016567 protein ubiquitination;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q8NCN4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9J3V5-1", "uniprot_id": [ { "id": "TEX22_HUMAN", "url": "https://www.uniprot.org/uniprot/C9J3V5", "type": "external" } ], "mass": 16880.0, "length": 150, "protein_name": "Testis-expressed protein 22", "gene_name": "TEX22", "organism": "Human", "refseq_name": "testis-expressed protein 22", "refseq_ac": [ { "id": "NP_001182011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182011", "type": "external" } ], "gene_names_uniprotkb": "TEX22", "gene_names_refseq": "TEX22", "protein_names_uniprotkb": "Testis-expressed protein 22", "protein_names_refseq": "testis expressed gene 22; testis-expressed protein 22; testis-expressed sequence 22 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:647310)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;31844290;37217939", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001669 acrosomal vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "C9J3V5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEF3-1", "uniprot_id": [ { "id": "CC112_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEF3", "type": "external" } ], "mass": 53565.0, "length": 446, "protein_name": "Coiled-coil domain-containing protein 112", "gene_name": "CCDC112", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 112 isoform 1", "refseq_ac": [ { "id": "NP_001035530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035530", "type": "external" } ], "gene_names_uniprotkb": "CCDC112; MBC1", "gene_names_refseq": "CCDC112; MBC1", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 112; Mutated in bladder cancer protein 1", "protein_names_refseq": "coiled-coil domain-containing protein 112 isoform 1; coiled-coil domain-containing protein 112; mutated in bladder cancer 1; mutated in bladder cancer protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:153733)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1038/emboj.2013.79;11237011;23584533;24715725;25576301;26638075;26992070;28904123;29242379;29314611;29557506;31844290;31848261;32157095;32350084;32502341;32938616;33912179;33936100;33968037;35051231;35251023", "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": 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": 5, "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": "Q6A334", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0034451 centriolar satellite", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8NEF3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14978-1", "uniprot_id": [ { "id": "ZN263_HUMAN", "url": "https://www.uniprot.org/uniprot/O14978", "type": "external" } ], "mass": 77299.0, "length": 683, "protein_name": "Zinc finger protein 263", "gene_name": "ZNF263", "organism": "Human", "refseq_name": "zinc finger protein 263 isoform 1", "refseq_ac": [ { "id": "NP_005732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005732", "type": "external" } ], "gene_names_uniprotkb": "ZNF263; FPM315; ZKSCAN12", "gene_names_refseq": "FPM315; ZKSCAN12; ZNF263; ZSCAN44", "protein_names_uniprotkb": "Zinc finger protein 263; Zinc finger protein FPM315; Zinc finger protein with KRAB and SCAN domains 12", "protein_names_refseq": "zinc finger protein 263 isoform 1; zinc finger protein FPM315; zinc finger protein with KRAB and SCAN domains 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:10127); (R-HSA-212436)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;19887448;2163759;23186163;23481700;24366607;27231705;28218747;28832583;28904123;29242379;29437277;30315122;31844290;32051553;32161166;32277030;32488085;32897882;32938616;33298915;33691108;33968037;34171305;34514002;35051231;36241641;37353617;37821764;38335093;39294234;8183939;8769649;9256059;9637681;9653119", "class_list": "", "function": "Chromatin-associated OGT promotes the malignant progression of hepatocellular carcinoma by activating ZNF263., [RefSeq, PubMed]; Circular RNA FOXP1 Induced by ZNF263 Upregulates U2AF2 Expression to Accelerate Renal Cell Carcinoma Tumorigenesis and Warburg Effect through Sponging miR-423-5p. Publication Status: Online-Only, [RefSeq, PubMed]; Genomic targets of the KRAB and SCAN domain-containing zinc finger protein 263., [RefSeq, PubMed]; Transcription factor ZNF263 enhances EGFR-targeted therapeutic response and reduces residual disease in lung adenocarcinoma., [RefSeq, PubMed]; Transcription factor that binds to the consensus sequence 5'-TCCTCCC-3' and acts as a transcriptional repressor (PubMed:32051553). Binds to the promoter region of SIX3 and recruits other proteins involved in chromatin modification and transcriptional corepression, resulting in methylation of the promoter and transcriptional repression (PubMed:32051553). Acts as a transcriptional repressor of HS3ST1 and HS3ST3A1 via binding to gene promoter regions (PubMed:32277030)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Zinc finger protein 263 promotes colorectal cancer cell progression by activating STAT3 and enhancing chemoradiotherapy resistance. Publication Status: Online-Only, [RefSeq, PubMed]; Zinc finger protein 263 upregulates interleukin 33 and suppresses autophagy to accelerate the malignant progression of non-small cell lung cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R634;O43387;Q96H95", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "O14978-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75410-1", "uniprot_id": [ { "id": "TACC1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75410", "type": "external" } ], "mass": 87794.0, "length": 805, "protein_name": "Transforming acidic coiled-coil-containing protein 1", "gene_name": "TACC1", "organism": "Human", "refseq_name": "transforming acidic coiled-coil-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001116296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116296", "type": "external" } ], "gene_names_uniprotkb": "TACC1; KIAA1103", "gene_names_refseq": "Ga55; TACC1", "protein_names_uniprotkb": "Transforming acidic coiled-coil-containing protein 1; Gastric cancer antigen Ga55; Taxin-1", "protein_names_refseq": "gastric cancer antigen Ga55; taxin-1; transforming acidic coiled-coil-containing protein 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6867)", "pathway_count": 1, "publication_count": 87, "publication_id_list": "10435627;11121038;11237011;11903063;12087473;12165861;12547166;14603251;14767476;15064709;15207008;15592455;17081983;17525332;18077418;18669648;18991276;19651622;19690332;20058876;20068231;20078863;21531210;22645359;23186163;23481700;24275569;24366607;24714562;24715725;25418920;25502872;25505266;25576301;25807930;26024233;26154972;26375851;26728094;26992070;27397612;27846572;28228285;28352266;28649982;28832583;28904123;29242379;29437277;29493099;29508533;29557506;30315122;30410026;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33298915;33481389;33592498;33633747;33717175;33912179;33936100;33968037;34087483;34561969;34932366;35051231;35154160;35307914;35318648;35561310;35580925;36284347;37938771;40307207;40914422", "class_list": "", "function": "Interaction of the transforming acidic coiled-coil 1 (TACC1) protein with ch-TOG and GAS41/NuBI1 suggests multiple TACC1-containing protein complexes in human cells, [RefSeq, PubMed]; Involved in transcription regulation induced by nuclear receptors, including in T3 thyroid hormone and all-trans retinoic acid pathways (PubMed:20078863). Might promote the nuclear localization of the receptors (PubMed:20078863). Likely involved in the processes that promote cell division prior to the formation of differentiated tissues., [UniProtKB, PubMed]; LINC01140 inhibits nonsmall cell lung cancer progression and cisplatin resistance through the miR-4742-5p/TACC1 axis., [RefSeq, PubMed]; Neurofibrosarcoma Revisited: An Institutional Case Series of Uterine Sarcomas Harboring Kinase-related Fusions With Report of a Novel FGFR1-TACC1 Fusion., [RefSeq, PubMed]; This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RBD9;B4E302;D3DSX6;Q6Y687;Q86YG7;Q8IUJ2;Q8IUJ3;Q8IUJ4;Q8IZG2;Q8NEY7;Q9UPP9", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0035259 nuclear glucocorticoid receptor binding;GO:0030331 nuclear estrogen receptor binding;GO:0042974 nuclear retinoic acid receptor binding;GO:0042975 peroxisome proliferator activated receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0016020 membrane;GO:0030496 midbody", "go_biological_process": "GO:0051301 cell division;GO:0021987 cerebral cortex development;GO:0007052 mitotic spindle organization;GO:0007097 nuclear migration;GO:0030953 astral microtubule organization", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "O75410-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3C7-1", "uniprot_id": [ { "id": "CLIP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3C7", "type": "external" } ], "mass": 76317.0, "length": 705, "protein_name": "CAP-Gly domain-containing linker protein 4", "gene_name": "CLIP4", "organism": "Human", "refseq_name": "CAP-Gly domain-containing linker protein 4 isoform 1", "refseq_ac": [ { "id": "NP_001274456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274456", "type": "external" } ], "gene_names_uniprotkb": "CLIP4; RSNL2", "gene_names_refseq": "CLIP4; RSNL2", "protein_names_uniprotkb": "CAP-Gly domain-containing linker protein 4; Restin-like protein 2", "protein_names_refseq": "CAP-GLY domain containing linker protein family, member 4; CAP-Gly domain-containing linker protein 4 isoform 1; CAP-Gly domain-containing linker protein 4; restin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79745)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26811146;26992070;27283491;27846572;27862975;27920218;28063628;28411811;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30429286;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32983136;33298915;33968037;33981976;34405274;34932366;35051231;35580925;36010968;36241641;36284347;38253038;39121973", "class_list": "", "function": "FOXC2 and CLIP4 activity correlates to the presence of T, 262D/N) that is associated with susceptibility to breast cancer in a parity-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest centrosomal functions for C10orf90 and KIAA1731 and new centriole-related functions for ALMS1, [RefSeq, PubMed]; FATS is an E2-independent ubiquitin ligase that stabilizes p53 and promotes its activation in response to DNA damage., [RefSeq, PubMed]; FATS is involved in the carcinogenesis and development of breast cancer and could be a potential biomarker and prognostic factor for breast cancer therapy., [RefSeq, PubMed]; FATS status is a biomarker in breast cancer to identify individuals likely to benefit from radiotherapy, [RefSeq, PubMed]; The expression of FATS protein is associated with the development and is an independent prognostic factor of non-small cell lung cancer patients., [RefSeq, PubMed]; Tumor suppressor that is required to sustain G2/M checkpoint after DNA damage. Acts as a p53/TP53 activator by inhibiting MDM2 binding to p53/TP53 and stimulating non-proteolytic polyubiquitination of p53/TP53. Exhibits ubiquitin ligase (E3) activity and assemble ubiquitin polymers through 'Lys-11'- (K11-), 'Lys-29'- (K29-) and 'Lys-63'- (K63)-linkages, independently of the ubiquitin-conjugating enzyme (E2). Promotes p53/TP53-dependent transcription of CDKN1A/p21, leading to robust checkpoint response. Mediates CDKN1A/p21 protein stability in a ubiquitin-independent manner. Interacts with HDAC1 and prevents binding of HDAC1 to CDKN1A/p21 and facilitates the acetylation and stabilization of CDKN1A/p21 (By similarity). May have a role in the assembly of primary cilia (Probable)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EIQ9;Q5JRP6;Q5T023;Q8NCV5;Q8WU75", "ec_number_list": [], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0005814 centriole", "go_biological_process": "GO:0050821 protein stabilization;GO:0016567 protein ubiquitination;GO:0000209 protein polyubiquitination;GO:0046599 regulation of centriole replication", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q96M02-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHR7-1", "uniprot_id": [ { "id": "TERB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHR7", "type": "external" } ], "mass": 25316.0, "length": 220, "protein_name": "Telomere repeats-binding bouquet formation protein 2", "gene_name": "TERB2", "organism": "Human", "refseq_name": "telomere repeats-binding bouquet formation protein 2", "refseq_ac": [ { "id": "NP_689661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689661", "type": "external" } ], "gene_names_uniprotkb": "TERB2; C15orf43", "gene_names_refseq": "C15orf43; SPGF59; TERB2", "protein_names_uniprotkb": "Telomere repeats-binding bouquet formation protein 2", "protein_names_refseq": "telomere repeats-binding bouquet formation protein 2", "tax_id": 9606, "disease": "spermatogenic failure 59 (Disease Ontology:DOID:0112357)", "pathway": " (hsa:145645)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;26063658;28649982;30559341;30718482;32983136;33211200", "class_list": "", "function": "Complementary structured illumination microscopy studies and biochemical findings reveal a telomere attachment mechanism in which MAJIN-TERB2-TERB1 recruits telomere-bound TRF1, which is then displaced during pachytene, allowing MAJIN-TERB2-TERB1 to bind telomeric DNA and form a mature attachment plate. Publication Status: Online-Only, [RefSeq, PubMed]; Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. Erratum:[Hum Genet. 2021 Jan;140(1):229. doi: 10.1007/s00439-020-02244-1. PMID: 33377991], [RefSeq, PubMed]; Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA., [UniProtKB, UniProtKB]; The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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_cellular_component": "GO:0005635 nuclear envelope;GO:0031965 nuclear membrane;GO:0005637 nuclear inner membrane;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0070197 meiotic attachment of telomere to nuclear envelope;GO:0007129 homologous chromosome pairing at meiosis;GO:0045141 meiotic telomere clustering", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NHR7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62995-1", "uniprot_id": [ { "id": "TRA2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P62995", "type": "external" } ], "mass": 33666.0, "length": 288, "protein_name": "Transformer-2 protein homolog beta", "gene_name": "TRA2B", "organism": "Human", "refseq_name": "transformer-2 protein homolog beta isoform 2", "refseq_ac": [ { "id": "NP_001230808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230808", "type": "external" } ], "gene_names_uniprotkb": "TRA2B; SFRS10", "gene_names_refseq": "Htra2-beta; PPP1R156; RAMELN; SFRS10; SRFS10; TRA2-BETA; TRA2B; TRAN2B", "protein_names_uniprotkb": "Transformer-2 protein homolog beta; Splicing factor, arginine/serine-rich 10; TRA-2 beta; TRA2-beta; Transformer-2 protein homolog B; hTRA2-beta", "protein_names_refseq": "TRA-2 beta; protein phosphatase 1, regulatory subunit 156; splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila); transformer-2 protein homolog B; transformer-2 protein homolog beta isoform 2; transformer-2 protein homolog beta", "tax_id": 9606, "disease": "Ramond-Elliott neurodevelopmental syndrome (Disease Ontology:DOID:0070715); macular degeneration (Disease Ontology:DOID:4448)", "pathway": " (hsa:6434); (R-HSA-72163); (R-HSA-72203); (R-HSA-9013418); (R-HSA-9013422); (R-HSA-9770562)", "pathway_count": 6, "publication_count": 199, "publication_id_list": "10339552;10669729;10749975;10882114;11014198;11060040;11101529;11233976;11237011;11991638;12165565;12176931;12411573;12414731;12477934;12761049;14625303;14654843;14713954;14729963;14749727;14765198;15009664;15037765;15107402;15169763;15302935;15565158;15782174;16314458;16809785;16964243;17081983;17095540;17128255;17287340;17322306;17332742;17606899;18288197;18322460;18593880;18669648;18691976;18767875;18835386;19007248;19103666;19165350;19217410;19282290;19413330;19415658;19536130;19651622;20068230;20068231;20166139;20423332;20695905;20980672;21295486;21406692;21536652;2176635;22110043;22121020;22365833;22813749;22959432;22961380;23186163;23222130;23236153;23345524;23874216;24076191;24129315;24149845;24196718;24304693;24316715;24407421;24448447;24608665;24715725;24737827;24914973;24981863;25301780;25301781;25555158;25576301;2558966;26385511;26420826;26969736;27314390;27377154;27459055;27683217;27846572;27920218;27941885;28062851;28076346;28096519;28218747;28228285;28502770;28510447;28781166;28832583;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29493099;29557506;2963332;29786170;30139799;30257008;30315277;30379171;30705154;30728453;30765414;30779550;30896450;30975767;31217245;31409651;31431478;31844290;31848261;31871319;32119511;32157095;32179686;32329775;32350084;32357974;32494006;32522876;32816001;32983136;33141586;33214551;33243851;33298915;33392160;33446560;33633747;33912179;33968037;33981976;34019948;34087483;34171305;34229054;34301950;34357683;34561969;34725712;34822310;35177536;35251023;35385551;35580925;36284347;36549593;36861193;37217939;3757028;37705195;39265028;39894887;40914422;8352591;8566756;8608946;9016565;9212162;9242493;9409616;9512519;9524131;9539711;9546399;9659921;9671485;9701291;9731529;9790768", "class_list": "", "function": "Autoregulated splicing of TRA2beta programs T cell fate in response to antigen-receptor stimulation., [RefSeq, PubMed]; Bulk and single-cell alternative splicing analyses reveal roles of TRA2B in myogenic differentiation., [RefSeq, PubMed]; Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome., [RefSeq, PubMed]; Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Can either activate or suppress exon inclusion. Acts additively with RBMX to promote exon 7 inclusion of the survival motor neuron SMN2. Activates the splicing of MAPT/Tau exon 10. Alters pre-mRNA splicing patterns by antagonizing the effects of splicing regulators, like RBMX. Binds to the AG-rich SE2 domain in the SMN exon 7 RNA. Binds to pre-mRNA., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a nuclear protein which functions as sequence-specific serine/arginine splicing factor which plays a role in mRNA processing, splicing patterns, and gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [RefSeq]; Tra2beta Enhances Cell Proliferation by Inducing the Expression of Transcription Factor SP1 in Cervical Cancer., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 38, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DVK2;D3DNU3;O15449;Q15815;Q64283", "ec_number_list": [], "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex;GO:0005637 nuclear inner membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0048026 positive regulation of mRNA splicing, via spliceosome;GO:0000375 RNA splicing, via transesterification reactions;GO:0071333 cellular response to glucose stimulus;GO:0043484 regulation of RNA splicing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 20.2, "record_id": "P62995-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUF1-1", "uniprot_id": [ { "id": "ZNG1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUF1", "type": "external" } ], "mass": 44034.0, "length": 395, "protein_name": "Zinc-regulated GTPase metalloprotein activator 1B", "gene_name": "ZNG1B", "organism": "Human", "refseq_name": "zinc-regulated GTPase metalloprotein activator 1B isoform 1", "refseq_ac": [ { "id": "NP_742000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_742000", "type": "external" } ], "gene_names_uniprotkb": "ZNG1B; CBWD2", "gene_names_refseq": "CBWD2; ZNG1B", "protein_names_uniprotkb": "Zinc-regulated GTPase metalloprotein activator 1B; 3.6.5.-; COBW domain-containing protein 2; Cobalamin synthase W domain-containing protein 2", "protein_names_refseq": "COBW domain containing 2; COBW domain-containing protein 2; cobalamin synthase W domain-containing protein 2; cobalamin synthetase W domain-containing protein 2; zinc-regulated GTPase metalloprotein activator 1B isoform 1; zinc-regulated GTPase metalloprotein activator 1B", "tax_id": 9606, "disease": "congenital anomalies of the kidney and urinary tract (Disease Ontology:DOID:0080205)", "pathway": " (hsa:150472)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;12421752;15233989;25418920;26811146;26929215;27600516;27846572;27893789;27920218;28063628;28218747;28228285;28832583;28834231;29242379;29393594;29632046;29786170;30315122;31844290;32387766;33981976;35584702;40914422", "class_list": "", "function": "Zinc chaperone that directly transfers zinc cofactor to target metalloproteins, thereby activating them. Catalyzes zinc insertion into the active site of methionine aminopeptidase METAP1, which function to cleave the initiator methionine from polypeptides during or after protein translation. Mechanistically, the N-terminal psi-PxLVp motif binds to the C6H2-type zinc finger of inactive form of METAP1. After formation of the docked complex, zinc is transferred from the CXCC motif in the GTPase domain of ZNG1B to the zinc binding site in the peptidase domain of METAP1 in a process requiring GTP hydrolysis. GTP/GDP exchange is required for release of active METAP1., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0VAN3", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0005525 GTP binding;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity;GO:0140827 zinc chaperone activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8IUF1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UP52-1", "uniprot_id": [ { "id": "TFR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UP52", "type": "external" } ], "mass": 88755.0, "length": 801, "protein_name": "Transferrin receptor protein 2", "gene_name": "TFR2", "organism": "Human", "refseq_name": "transferrin receptor protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001193784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193784", "type": "external" } ], "gene_names_uniprotkb": "TFR2", "gene_names_refseq": "HFE3; TFR2; TFRC2", "protein_names_uniprotkb": "Transferrin receptor protein 2; TfR2", "protein_names_refseq": "transferrin receptor protein 2 isoform 2; transferrin receptor protein 2", "tax_id": 9606, "disease": "hemochromatosis type 3 (Disease Ontology:DOID:0111030); hemochromatosis (Disease Ontology:DOID:2352); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:7036); (R-HSA-917977)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10409623;10802645;11237011;11313241;11800564;12130528;12150153;12531241;14633868;16227996;16564538;16609065;16793765;17662945;17729390;18794901;19159218;23556518;25418920;25502872;25576301;26205815;27920218;28218747;28467828;28904123;29242379;29393594;29557506;29632046;30315122;30337524;30573663;31154438;31611695;31844290;32161166;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33392160;33912179;34509645;35051231;35225679;35251023;35355750;35561310;35580925;35705926;36241641;36702193;37480032;6141558;6309857;9465039;9799793", "class_list": "", "function": "Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes. Publication Status: Online-Only, [RefSeq, PubMed]; Circ-STC2 promotes the ferroptosis of nucleus pulposus cells via targeting miR-486-3p/TFR2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2., [RefSeq, PubMed]; Evaluation of the Association of Transferrin Receptor Type 2 Gene Mutation (Y250X) with Iron Overload in Major beta- Thalassemia. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation., [UniProtKB]; TFR2 regulates ferroptosis and enhances temozolomide chemo-sensitization in gliomas. Review article, [RefSeq, PubMed]; This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [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": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6NGM7;O75422;Q1HE13;Q9HA99;Q9NX67", "ec_number_list": [], "go_molecular_function": "GO:0004998 transferrin receptor activity;GO:0039706 co-receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0031410 cytoplasmic vesicle;GO:1990712 HFE-transferrin receptor complex", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006879 intracellular iron ion homeostasis;GO:0006898 receptor-mediated endocytosis;GO:0071281 cellular response to iron ion;GO:0010039 response to iron ion", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9UP52-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100001000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SZ6-1", "uniprot_id": [ { "id": "CK5P1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SZ6", "type": "external" } ], "mass": 67689.0, "length": 601, "protein_name": "Mitochondrial tRNA methylthiotransferase CDK5RAP1", "gene_name": "CDK5RAP1", "organism": "Human", "refseq_name": "mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform d", "refseq_ac": [ { "id": "NP_001265097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265097", "type": "external" } ], "gene_names_uniprotkb": "CDK5RAP1; C20orf34; CGI-05; HSPC167", "gene_names_refseq": "C20orf34; C42; CDK5RAP1; CGI-05; HSPC167", "protein_names_uniprotkb": "Mitochondrial tRNA methylthiotransferase CDK5RAP1; 2.8.4.3; CDK5 activator-binding protein C42; CDK5 regulatory subunit-associated protein 1; mt-tRNA-2-methylthio-N6-dimethylallyladenosine synthase; mt-tRNA-N6-(dimethylallyl)adenosine(37) methylthiotransferase", "protein_names_refseq": "CDK5 activator-binding protein C42; CDK5 regulatory subunit associated protein 1; mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform d; mitochondrial tRNA methylthiotransferase CDK5RAP1; mt-tRNA-2-methylthio-N6-dimethylallyladenosine synthase; mt-tRNA-N6-(dimethylallyl)adenosine(37) methylthiotransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:51654)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "10721722;11237011;11882646;15329498;22422838;22645359;25418920;25576301;25645385;25738458;25802875;26154972;26375851;26929215;26992070;27920218;28218747;28832583;28834231;28904123;28981754;29242379;29393594;29437277;29493099;29632046;29786170;30192525;30429286;30779550;31154438;31217245;31844290;32157095;32161166;32265295;32357974;32488085;32502341;32938616;33298915;33537174;33592498;33968037;34185709;34357683;34932366;35051231;35580925;36010968", "class_list": "", "function": "CDK5RAP1 is a radical SAM enzyme, which postsynthetically converts the RNA modification N6-isopentenyladenosine into 2-methylthio-N6-isopentenyladenosine., [RefSeq, PubMed]; Methylthiotransferase that catalyzes the conversion of N6-(dimethylallyl)adenosine (i(6)A) to 2-methylthio-N6-(dimethylallyl)adenosine (ms(2)i(6)A) at position 37 (adjacent to the 3'-end of the anticodon) of four mitochondrial DNA-encoded tRNAs (Ser(UCN), Phe, Tyr and Trp) (PubMed:22422838, PubMed:25738458, PubMed:28981754). Essential for efficient and highly accurate protein translation by the ribosome (PubMed:22422838, PubMed:25738458, PubMed:28981754). Specifically inhibits CDK5 activation by CDK5R1 (PubMed:11882646). Essential for efficient mitochondrial protein synthesis and respiratory chain; shows pathological consequences in mitochondrial disease (PubMed:25738458)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The mitochondrial localization of ms2i6A modification was diminished in HeLa cells when transfected with siRNA against Cdk5 regulatory subunit-associated protein 1 (Cdk5rap1), suggesting that the modification occurs in tRNAs in mitochondria., [RefSeq, PubMed]; This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7R0;Q5QP46;Q5QP47;Q5QP48;Q675N4;Q675N5;Q9BVG6;Q9BWZ5;Q9H859;Q9NZZ9;Q9Y3F0", "ec_number_list": [ { "id": "2.8.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.4.3", "type": "external" } ], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0035597 tRNA-2-methylthio-N(6)-dimethylallyladenosine(37) synthase activity;GO:0035596 methylthiotransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0007420 brain development;GO:0045664 regulation of neuron differentiation;GO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity;GO:0009451 RNA modification;GO:0045786 negative regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q96SZ6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUQ0-1", "uniprot_id": [ { "id": "CLVS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUQ0", "type": "external" } ], "mass": 40788.0, "length": 354, "protein_name": "Clavesin-1", "gene_name": "CLVS1", "organism": "Human", "refseq_name": "clavesin-1", "refseq_ac": [ { "id": "NP_775790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775790", "type": "external" } ], "gene_names_uniprotkb": "CLVS1; CRALBPL; RLBP1L1", "gene_names_refseq": "C6orf212L; CLVS1; CRALBPL; RLBP1L1", "protein_names_uniprotkb": "Clavesin-1; Cellular retinaldehyde-binding protein-like; Retinaldehyde-binding protein 1-like 1; clathrin vesicle-associated Sec14 protein 1", "protein_names_refseq": "clathrin vesicle-associated Sec14 protein 1; clavesin-1; retinaldehyde-binding protein 1-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:157807); (R-HSA-432720)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10394364;10436028;11139587;11237011;11333915;11604418;11694590;11994746;16155256;16802092;16867982;17116749;18271718;18491316;19559397;19651769;20230749;20708039;21620353;25576301;25880248;28228285;29393594;29789417;34874915;34932366;8374173;8524399;8670264;9733768", "class_list": "", "function": "CRALBPL may be used as a marker for human hepatocellular carcinomas., [RefSeq, PubMed]; Clavesin protein family appears to provide a unique neuron-specific regulation of late endosome/lysosome morphology., [RefSeq, PubMed]; Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)., [UniProtKB, PubMed]; Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7M5;C8UZT3;Q8NB32", "ec_number_list": [], "go_molecular_function": "GO:1902936 phosphatidylinositol bisphosphate binding;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding", "go_cellular_component": "GO:0005768 endosome;GO:0032588 trans-Golgi network membrane;GO:0031901 early endosome membrane;GO:0030136 clathrin-coated vesicle;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0007040 lysosome organization", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8IUQ0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42892-1", "uniprot_id": [ { "id": "ECE1_HUMAN", "url": "https://www.uniprot.org/uniprot/P42892", "type": "external" } ], "mass": 87164.0, "length": 770, "protein_name": "Endothelin-converting enzyme 1", "gene_name": "ECE1", "organism": "Human", "refseq_name": "endothelin-converting enzyme 1 isoform 3", "refseq_ac": [ { "id": "NP_001106818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106818", "type": "external" } ], "gene_names_uniprotkb": "ECE1", "gene_names_refseq": "ECE1; ECE", "protein_names_uniprotkb": "Endothelin-converting enzyme 1; 3.4.24.71; ECE-1", "protein_names_refseq": "ECE-1; endothelin-converting enzyme 1 isoform 3", "tax_id": 9606, "disease": "renal fibrosis (Disease Ontology:DOID:0050855); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); nephrotic syndrome (Disease Ontology:DOID:1184); dilated cardiomyopathy (Disease Ontology:DOID:12930); acute kidney failure (Disease Ontology:DOID:3021); coronary artery disease (Disease Ontology:DOID:3393); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); double outlet right ventricle (Disease Ontology:DOID:6406); pulmonary hypertension (Disease Ontology:DOID:6432); hyperhomocysteinemia (Disease Ontology:DOID:9279); Hirschsprung disease, cardiac defects, and autonomic dysfunction (MONDO:MONDO:0013473)", "pathway": " (hsa:1889); (R-HSA-375276)", "pathway_count": 2, "publication_count": 220, "publication_id_list": "37268159;10.1101/2023.09.13.557529;10079109;10100623;10381885;10421367;10421368;10438732;10461880;10491078;10498338;10499587;10604470;10854085;10899166;11237011;11322507;11385580;11457843;11562423;11683476;11773063;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;15565337;1567413;15947423;16263699;1655761;17081983;1710450;1710578;1719979;1722333;18127230;1847994;18512783;18669648;18992253;19159218;19349973;19651622;19690332;20068231;22299025;23090970;23328677;23446738;23690594;23783831;24190977;24715725;24906252;25418920;25502872;25576301;25645385;25880248;26154972;2649896;26931059;26992070;27102936;27496565;27543614;27600516;27846572;27862975;27920218;28218747;28228285;28467828;28514659;28832583;28834231;28855257;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29557506;29632046;29632711;29741879;29774024;29786170;30315122;30379171;30410026;30484775;30573663;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;3202875;32157095;32161166;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33141586;33214551;33298915;33392160;33465208;33537174;33592498;3366244;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34433824;34561969;34932366;35051231;35154160;35251023;3525564;35289036;35318648;35494241;35561310;35580925;35645613;36010968;36215666;36241641;36284347;36635757;37074911;37271044;37559140;37835445;37938771;3856870;38665916;39443981;40596516;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7695628;7797512;7805846;7864876;7905839;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8530372;8615752;8666380;8702752;873923;8823230;9171878;9396733;9521323;9530155;9593744;9595384;9607765;9685625;9722565;9792798;9832121;9851594;9915973", "class_list": "", "function": "Association of Endothelin-Converting Enzyme and Endothelin-1 Gene Polymorphisms with Essential Hypertension in Malay Ethnics. Publication Status: Online-Only, [RefSeq, PubMed]; CircECE1 promotes osteosarcoma progression through regulating RAB3D by sponging miR-588. Publication Status: Online-Only, [RefSeq, PubMed]; CircNDC80 promotes glioblastoma multiforme tumorigenesis via the miR-139-5p/ECE1 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Cisplatin-resistance and aggressiveness are enhanced by a highly stable endothelin-converting enzyme-1c in lung cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Converts big endothelin-1 to endothelin-1., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Mutation analysis of the ECE1 gene in late-onset Alzheimer's disease., [RefSeq, PubMed]; The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 14, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 14, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 14, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 50, "disease_count": 14, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A8K3P1;B4E291;Q14217;Q17RN5;Q2Z2K8;Q58GE7;Q5THM5;Q5THM7;Q5THM8;Q9UJQ6;Q9UPF4;Q9UPM4;Q9Y501", "ec_number_list": [ { "id": "3.4.24.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.71", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0017046 peptide hormone binding", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007507 heart development;GO:0016485 protein processing;GO:0016486 peptide hormone processing;GO:0071526 semaphorin-plexin signaling pathway", "synthesized_glycan_count": 0, "hit_score": 28.7, "record_id": "P42892-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAD8-1", "uniprot_id": [ { "id": "SNIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAD8", "type": "external" } ], "mass": 45778.0, "length": 396, "protein_name": "Smad nuclear-interacting protein 1", "gene_name": "SNIP1", "organism": "Human", "refseq_name": "smad nuclear-interacting protein 1", "refseq_ac": [ { "id": "NP_078976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078976", "type": "external" } ], "gene_names_uniprotkb": "SNIP1", "gene_names_refseq": "NEDHCS; PML1; PMRED; SNIP1", "protein_names_uniprotkb": "Smad nuclear-interacting protein 1; FHA domain-containing protein SNIP1", "protein_names_refseq": "FHA domain-containing protein SNIP1; PML1 homolog; smad nuclear-interacting protein 1", "tax_id": 9606, "disease": "psychomotor retardation, epilepsy, and craniofacial dysmorphism (MONDO:MONDO:0013787)", "pathway": " (hsa:79753); (R-HSA-72163)", "pathway_count": 2, "publication_count": 144, "publication_id_list": "10882114;10887155;11014198;11101529;11233976;11237011;11567019;11991638;12097147;12176931;12411573;12414731;12477934;14625303;14713954;15378006;15750622;16314458;16371476;16809785;17081983;17095540;17322306;17332742;17525332;17606899;18212344;18322460;18452278;18593880;18632581;18669648;18767875;18794151;19007248;19103666;19165350;19536130;19651622;19664995;19690332;20068231;20423332;20980672;21406692;21536652;2176635;22110043;22279524;22365833;22959432;22961380;23186163;23222130;23236153;23345524;24196718;24275569;24304693;24448447;24714562;24737827;24914973;25114211;25218447;25555158;25576301;2558966;25755297;25772364;26385511;26420826;26728094;26969736;27377154;27459055;27683217;27862975;27920218;28062851;28076346;28228285;28502770;28781166;28832583;28904123;29242379;29301961;29331515;29360106;29361316;29393594;29508533;29557506;2963332;29786170;30315277;30379171;30429286;30705154;30728453;30765414;30833945;30975767;31154438;31409651;31530632;31844290;31848261;32157095;32161166;32179686;32329775;32494006;32897882;32983136;33243851;33298915;33446560;33509932;33592498;33691108;33717175;33968037;33981976;34171305;34301950;34822310;35051231;35385551;35580925;36284347;3757028;37739115;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Define both a new function for SNIP1 and identify a previously unrecognized regulator of the cell cycle and cyclin D1 expression, [RefSeq, PubMed]; Required for pre-mRNA splicing as component of the spliceosome (PubMed:29360106). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Down-regulates NF-kappa-B signaling by competing with RELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA) biogenesis. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SNIP1 reduces extracellular matrix degradation and inflammation via inhibiting the NF-kappaB signaling pathway in osteoarthritis., [RefSeq, PubMed]; Smad-binding peptide aptamers can be developed to selectively inhibit TGF-beta-induced gene expression., [RefSeq, PubMed]; Study identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS., [RefSeq, PubMed]; This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 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": "Q96SP9;Q9H9T7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0140416 transcription regulator inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0071005 U2-type precatalytic spliceosome", "go_biological_process": "GO:0048255 mRNA stabilization;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0035196 miRNA processing;GO:0000398 mRNA splicing, via spliceosome;GO:1903241 U2-type prespliceosome assembly", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q8TAD8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WV6-1", "uniprot_id": [ { "id": "STING_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WV6", "type": "external" } ], "mass": 42193.0, "length": 379, "protein_name": "Stimulator of interferon genes protein", "gene_name": "STING1", "organism": "Human", "refseq_name": "stimulator of interferon genes protein isoform 1", "refseq_ac": [ { "id": "NP_938023", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_938023", "type": "external" } ], "gene_names_uniprotkb": "STING1; ERIS; MITA; STING; TMEM173", "gene_names_refseq": "ERIS; MITA; MPYS; NET23; SAVI; STING-beta; STING1; STING; TMEM173; hMITA; hSTING", "protein_names_uniprotkb": "Stimulator of interferon genes protein; ERIS; Endoplasmic reticulum interferon stimulator; Mediator of IRF3 activation; Transmembrane protein 173; hMITA; hSTING", "protein_names_refseq": "N-terminal methionine-proline-tyrosine-serine plasma membrane tetraspanner; endoplasmic reticulum IFN stimulator; endoplasmic reticulum interferon stimulator; mitochondrial mediator of IRF3 activation; stimulator of interferon genes protein isoform 1; stimulator of interferon genes protein; stimulator of interferon protein; stimulator of interferon response cGAMP interactor-deltaC; stimulator of interferon response cGAMP interactor-deltaN; sting 1; transmembrane protein 173", "tax_id": 9606, "disease": "STING-associated vasculopathy with onset in infancy (Disease Ontology:DOID:0111457); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526)", "pathway": " (hsa:340061); (R-HSA-1834941); (R-HSA-3134975); (R-HSA-3249367); (R-HSA-3270619); (R-HSA-6798695); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-9920588)", "pathway_count": 9, "publication_count": 237, "publication_id_list": "11035028;11237011;11839743;12019269;12133833;12692549;12759408;15208624;15210742;16281057;16306936;16920715;17035307;17270291;17412287;17483521;17526488;17596301;17761676;18496526;18559423;18724357;18818105;19285439;19307177;19380580;19398035;19416887;19433799;19754307;19776740;19926846;20628368;20890285;21074459;21098106;21170271;21566123;21575908;21813776;21862588;21892174;21947006;22000020;22046132;22253733;22312431;22388039;22394562;22579474;22619329;22691496;22705373;22728658;22728659;22728660;22745133;22941947;23027953;23142775;23222971;23258412;23258413;23483519;23650620;23707065;23722158;23747010;23910378;24173023;24509444;24560620;24622840;24714562;24715725;24854014;25029335;25135833;25199835;25254379;25299331;25344812;25401470;25576301;25636800;25645385;25704810;25764917;25907116;26150511;26154972;26229117;26300263;26320399;26378163;26405230;26669264;26992070;27164085;27203180;27302953;27452731;27543614;27801882;27832191;27846572;27862975;28148787;28218747;28331227;28534493;28764923;28832583;28904123;29038422;29242379;29294448;29437277;29478775;29491158;29493099;29557506;29694889;29786170;29973723;30185776;30321235;30410026;30429286;30550790;30568238;30643259;30655953;30842653;30842659;30842662;30943264;31034780;31092671;31107917;31217245;31231549;31844290;31850239;31867016;31968013;31992625;32152943;32157095;32353859;32357974;32387766;32428392;32432721;32488085;32582856;32589897;32690950;32726803;32728199;32753499;32778820;32938616;32953130;32979938;32983136;33024073;33057424;33060197;33097660;33110251;33141586;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33567255;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33963333;33968037;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34597346;34903048;35013224;35045565;35051231;35102342;35388221;35580925;35643212;36010968;36284347;36802409;36808561;37051252;37379839;37535724;37832545;37916870;38429625;39255680;39459875;40498864;41639452;41639454;8692836;9989503", "class_list": "", "function": "(Microbial infection) Antiviral activity is antagonized by oncoproteins, such as papillomavirus (HPV) protein E7 and adenovirus early E1A protein (PubMed:26405230). Such oncoproteins prevent the ability to sense cytosolic DNA (PubMed:26405230)., [UniProtKB, PubMed]; Facilitator of innate immune signaling that acts as a sensor of cytosolic DNA from bacteria and viruses and promotes the production of type I interferon (IFN-alpha and IFN-beta) (PubMed:18724357, PubMed:18818105, PubMed:19433799, PubMed:19776740, PubMed:23027953, PubMed:23747010, PubMed:23910378, PubMed:27801882, PubMed:29973723, PubMed:30842659, PubMed:35045565, PubMed:35388221, PubMed:36808561, PubMed:37832545, PubMed:25704810, PubMed:39255680). Innate immune response is triggered in response to non-CpG double-stranded DNA from viruses and bacteria delivered to the cytoplasm (PubMed:26300263). Acts by binding cyclic dinucleotides: recognizes and binds cyclic di-GMP (c-di-GMP), a second messenger produced by bacteria, cyclic UMP-AMP (2',3'-cUAMP), and cyclic GMP-AMP (cGAMP), a messenger produced by CGAS in response to DNA virus in the cytosol (PubMed:21947006, PubMed:23258412, PubMed:23707065, PubMed:23722158, PubMed:23747010, PubMed:23910378, PubMed:26229117, PubMed:30842659, PubMed:35388221, PubMed:37379839). Upon binding to c-di-GMP, cUAMP or cGAMP, STING1 oligomerizes, translocates from the endoplasmic reticulum and is phosphorylated by TBK1 on the pLxIS motif, leading to recruitment and subsequent activation of the transcription factor IRF3 to induce expression of type I interferon and exert a potent anti-viral state (PubMed:22394562, PubMed:25636800, PubMed:29973723, PubMed:30842653, PubMed:35045565, PubMed:35388221, PubMed:30643259). Exhibits 2',3' phosphodiester linkage-specific ligand recognition: can bind both 2'-3' linked cGAMP (2'-3'-cGAMP) and 3'-3' linked cGAMP but is preferentially activated by 2'-3' linked cGAMP (PubMed:23747010, PubMed:23910378, PubMed:26300263). The preference for 2'-3'-cGAMP, compared to other linkage isomers is probably due to the ligand itself, which adopts an organized free-ligand conformation that resembles the STING1-bound conformation and pays low energy costs in changing into the active conformation (PubMed:26150511). In addition to promote the production of type I interferons, plays a direct role in autophagy (PubMed:30568238, PubMed:30842662). Following cGAMP-binding, STING1 buds from the endoplasmic reticulum into COPII vesicles, which then form the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) (PubMed:30842662, PubMed:41639454, PubMed:41639452). The ERGIC serves as the membrane source for WIPI2 recruitment and LC3 lipidation, leading to formation of autophagosomes that target cytosolic DNA or DNA viruses for degradation by the lysosome (PubMed:30842662). Promotes autophagy by acting as a proton channel that directs proton efflux from the Golgi to facilitate MAP1LC3B/LC3B lipidation (PubMed:37535724). The autophagy- and interferon-inducing activities can be uncoupled and autophagy induction is independent of TBK1 phosphorylation (PubMed:30568238, PubMed:30842662). Autophagy is also triggered upon infection by bacteria: following c-di-GMP-binding, which is produced by live Gram-positive bacteria, promotes reticulophagy (By similarity). May be involved in translocon function, the translocon possibly being able to influence the induction of type I interferons (PubMed:18724357). May be involved in transduction of apoptotic signals via its association with the major histocompatibility complex class II (MHC-II) (By similarity). Involved in intercellular immune signaling. Cross-activated by 2',3'-cGAMP previously generated in virus-infected cells, triggers type I interferon signaling in macrophages and uninfected neighboring cells to propagate and amplify the antiviral immune response., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification, following expression cloning, of a molecule (STING; stimulator of interferon genes) that appears essential for effective innate immune signalling processes GeneRIF: STING (TMEM173) is an endoplasmic reticulum adaptor protein that facilitates innate immune signaling Erratum:[Nature. 2008 Nov 13;456(7219):274], [RefSeq, PubMed]; Results suggest MITA is a critical mediator of virus-triggered IRF3 activation and IFN expression and further demonstrate the importance of certain mitochondrial proteins in innate antiviral immunity., [RefSeq, PubMed]; STING Orchestrates EV-D68 Replication and Immunometabolism within Viral-Induced Replication Organelles. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]., [RefSeq]; We elucidate the structural features of the cytosolic c-di-GMP binding domain (CBD) of STING and its complex with c-di-GMP, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 62, "reported_glycation": 0, "reported_snv": 11, "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": "A8K3P6;B6EB35;D6RBX0;D6RE01;D6RID9", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0000421 autophagosome membrane;GO:0005741 mitochondrial outer membrane;GO:0005768 endosome;GO:0005777 peroxisome", "go_biological_process": "GO:0071360 cellular response to exogenous dsRNA;GO:0002221 pattern recognition receptor signaling pathway;GO:0000045 autophagosome assembly;GO:0045087 innate immune response;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "Q86WV6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NG5-1", "uniprot_id": [ { "id": "ZN558_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NG5", "type": "external" } ], "mass": 45755.0, "length": 402, "protein_name": "Zinc finger protein 558", "gene_name": "ZNF558", "organism": "Human", "refseq_name": "zinc finger protein 558 isoform 2", "refseq_ac": [ { "id": "NP_001291279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291279", "type": "external" } ], "gene_names_uniprotkb": "ZNF558", "gene_names_refseq": "ZNF558", "protein_names_uniprotkb": "Zinc finger protein 558", "protein_names_refseq": "zinc finger protein 558 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:148156); (R-HSA-212436)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25880248;31848261;32157095;32502341;32938616;32983136;33592498;34185709;34624206;34932366;35051231;35318648;35580925;8183939;8769649;9637681;9653119", "class_list": "", "function": "A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development., [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": 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": "A8K5F0;B7Z798", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96NG5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51798-1", "uniprot_id": [ { "id": "CLCN7_HUMAN", "url": "https://www.uniprot.org/uniprot/P51798", "type": "external" } ], "mass": 88679.0, "length": 805, "protein_name": "H(+)/Cl(-) exchange transporter 7", "gene_name": "CLCN7", "organism": "Human", "refseq_name": "H(+)/Cl(-) exchange transporter 7 isoform b", "refseq_ac": [ { "id": "NP_001107803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107803", "type": "external" } ], "gene_names_uniprotkb": "CLCN7", "gene_names_refseq": "CLC-7; CLC7; CLCN7; HOD; OPTA2; OPTB4; PPP1R63", "protein_names_uniprotkb": "H(+)/Cl(-) exchange transporter 7; Chloride channel 7 alpha subunit; Chloride channel protein 7; ClC-7", "protein_names_refseq": "H(+)/Cl(-) exchange transporter 7 isoform b; chloride channel 7 alpha subunit; chloride channel protein 7; chloride channel, voltage-sensitive 7; chloride voltage-gated channel 7; h(+)/Cl(-) exchange transporter 7; protein phosphatase 1, regulatory subunit 63", "tax_id": 9606, "disease": "aortic dissection (Disease Ontology:DOID:0080685); Baraitser-Winter syndrome 1 (Disease Ontology:DOID:0081112); congenital myopathy 2B (Disease Ontology:DOID:0081339); congenital myopathy 2C (Disease Ontology:DOID:0081340); hypertrophic cardiomyopathy 11 (Disease Ontology:DOID:0110317); autosomal dominant nonsyndromic deafness 20 (Disease Ontology:DOID:0110550); nemaline myopathy 3 (Disease Ontology:DOID:0110927); autosomal dominant osteopetrosis 2 (Disease Ontology:DOID:0110938); autosomal recessive osteopetrosis 4 (Disease Ontology:DOID:0110944); intestinal atresia (Disease Ontology:DOID:10486); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); Moyamoya disease (Disease Ontology:DOID:13099); osteopetrosis (Disease Ontology:DOID:13533); patent ductus arteriosus (Disease Ontology:DOID:13832); thoracic aortic aneurysm (Disease Ontology:DOID:14004); nemaline myopathy (Disease Ontology:DOID:3191); lysosomal storage disease (Disease Ontology:DOID:3211); congenital structural myopathy (Disease Ontology:DOID:422); myopathy (Disease Ontology:DOID:423); hypopigmentation, organomegaly, and delayed myelination and development (MONDO:MONDO:0032805)", "pathway": " (hsa:1186); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 173, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11207362;11237011;11588175;11687798;11734858;11741829;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17033731;17081983;17381423;17448995;17699613;17881003;17897319;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18669648;18724360;19153159;19288050;19307298;19380724;19387438;19620632;19808995;19953639;20068231;20112406;20166139;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23112050;23186163;2321095;23616951;24275569;24715725;2536303;25418920;25502872;25576301;25645385;25892735;26359375;26395888;26477479;26562072;26811146;26929215;26992070;27397612;27846572;27920218;28063628;28071645;28154142;28218747;28228285;28467828;28790369;28832583;28904123;29242379;29314611;29331515;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30524438;30573663;30626607;30779550;30833945;31154438;31155284;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33043033;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34185709;34357683;34509645;34932366;35051231;35154160;35251023;35580925;36010968;36215666;36241641;38838776;39056574;39894887;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8543009;8544406;8626462;8809036;9037075;9395096;9565675;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease., [RefSeq, PubMed]; Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis., [RefSeq, PubMed]; Slowly voltage-gated channel mediating the exchange of chloride ions against protons (PubMed:18449189, PubMed:21527911). Functions as antiporter and contributes to the acidification of the lysosome lumen and may be involved in maintaining lysosomal pH (PubMed:18449189, PubMed:21527911, PubMed:31155284). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (By similarity). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 20, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEJ7;A8K5T9;A8K7X1;B3KPN3;E9PDB9;Q9NYX5", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0005254 chloride channel activity;GO:0062158 chloride:proton antiporter activity", "go_cellular_component": "GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0034707 chloride channel complex", "go_biological_process": "GO:0009268 response to pH;GO:1902476 chloride transmembrane transport;GO:0030321 transepithelial chloride transport", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "P51798-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JUR7-1", "uniprot_id": [ { "id": "TEX30_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JUR7", "type": "external" } ], "mass": 25585.0, "length": 227, "protein_name": "Testis-expressed protein 30", "gene_name": "TEX30", "organism": "Human", "refseq_name": "testis-expressed protein 30 isoform 2", "refseq_ac": [ { "id": "NP_001273704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273704", "type": "external" } ], "gene_names_uniprotkb": "TEX30; C13orf27", "gene_names_refseq": "C13orf27; TEX30", "protein_names_uniprotkb": "Testis-expressed protein 30", "protein_names_refseq": "testis-expressed protein 30 isoform 2; testis-expressed protein 30; testis-expressed sequence 30 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:93081)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23481700;25576301;26375851;27846572;28228285;28834231;28904123;29242379;29485866;30779550;31844290;32387766;32488085;32502341;33141586;33392160;33717175;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 4, "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": "Q5JUR8;Q96KZ8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q5JUR7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92759-1", "uniprot_id": [ { "id": "TF2H4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92759", "type": "external" } ], "mass": 52186.0, "length": 462, "protein_name": "General transcription factor IIH subunit 4", "gene_name": "GTF2H4", "organism": "Human", "refseq_name": "general transcription factor IIH subunit 4", "refseq_ac": [ { "id": "NP_001508", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001508", "type": "external" } ], "gene_names_uniprotkb": "GTF2H4", "gene_names_refseq": "GTF2H4; P52; TFB2; TFIIH; XPJ", "protein_names_uniprotkb": "General transcription factor IIH subunit 4; BTF2 p52; Basic transcription factor 2 52 kDa subunit; General transcription factor IIH polypeptide 4; TFIIH basal transcription factor complex p52 subunit", "protein_names_refseq": "BTF2 p52; TFIIH basal transcription factor complex p52 subunit; basic transcription factor 2 52 kDa subunit; general transcription factor IIH polypeptide 4; general transcription factor IIH subunit 4; general transcription factor IIH, polypeptide 4, 52kDa", "tax_id": 9606, "disease": "xeroderma pigmentosum, complementation group J (MONDO:MONDO:0980987)", "pathway": " (hsa:2968); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167160); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-167200); (R-HSA-167246); (R-HSA-427413); (R-HSA-5696395); (R-HSA-5696400); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-72086); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73863); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075)", "pathway_count": 30, "publication_count": 201, "publication_id_list": "10024882;10082553;10199401;10471499;10526214;10723029;10734143;10757782;10866664;10913176;10916156;10944529;10984493;11007478;11141066;11250901;11278856;11313498;11313499;11350971;11433015;11486021;11511374;11739720;11784853;11859374;11884399;11904382;11971958;11988847;12080057;12208738;12370301;12393749;12646563;12653964;12660172;12676794;12732143;1310361;14517266;14610093;14701750;14969726;15220921;1547496;15489290;15590680;15781865;15989964;16030353;16246722;16491090;16702430;16751180;17000769;17234882;17290000;17318177;17355984;17466625;17466626;17499042;17948053;17981804;18079701;18157150;18614043;18991276;19056823;19279666;1939271;19661379;19713942;19729311;19838300;19940136;19941815;19941824;19952111;20159561;20227374;20368362;20541997;20876134;21070792;21282463;22012619;22081108;22118460;22466610;22466611;22466612;22805593;22902626;22982363;22988298;23038248;23045548;23352696;23538671;23751493;23906714;23973375;24127601;24354960;24402227;2449431;24554720;24662513;24715725;25154395;25429106;25435140;25505266;25538220;25561469;25712099;25880248;25916849;26042670;26151477;26659056;26992070;27193682;27418187;27418309;27846572;2805069;28218747;28228285;28297668;28832583;28834231;29242379;29393594;29437277;29493099;29786170;30315122;30524438;30779550;31217245;31253769;31530632;31844290;32355176;32357974;32387766;32502341;32938616;33141586;33691108;33902107;33912179;33968037;34509645;34561969;35154160;35580925;36241641;37545038;7151173;7491500;7559382;7597036;7601352;7660122;7660129;7660130;7700386;7801123;7853496;8078911;8156590;8330735;8370526;8465201;8490964;8692841;8876179;8946909;9063748;9118947;9130708;9256425;9326587;9353262;9405375;9450929;9489704;9512541;9582279;9699634;9716411;9765293;9771713;9790902;9852112;9857195;9875289", "class_list": "", "function": "Component of the general transcription and DNA repair factor IIH (TFIIH) core complex which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA., [UniProtKB, UniProtKB]; Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription., [UniProtKB, PubMed, PubMed]; Stimulates the ATPase activity of TFIIH subunit XPB/ERCC3 (PubMed:17466626)., [UniProtKB, PubMed]; The role of Transcription Factor IIH complex in nucleotide excision repair. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "B4DTJ5;Q76KU4", "ec_number_list": [], "go_molecular_function": "GO:0003690 double-stranded DNA binding;GO:0001671 ATPase activator activity;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005675 transcription factor TFIIH holo complex;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0006281 DNA repair;GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006289 nucleotide-excision repair;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 20.2, "record_id": "Q92759-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61086-1", "uniprot_id": [ { "id": "UBE2K_HUMAN", "url": "https://www.uniprot.org/uniprot/P61086", "type": "external" } ], "mass": 22407.0, "length": 200, "protein_name": "Ubiquitin-conjugating enzyme E2 K", "gene_name": "UBE2K", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 K isoform 2", "refseq_ac": [ { "id": "NP_001104582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104582", "type": "external" } ], "gene_names_uniprotkb": "UBE2K; HIP2; LIG", "gene_names_refseq": "E2-25K; HIP2; HYPG; LIG; UBC1; UBE2K", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 K; 2.3.2.23; E2 ubiquitin-conjugating enzyme K; HIP-2; Huntingtin-interacting protein 2; Ubiquitin carrier protein; Ubiquitin-conjugating enzyme E2(25K); Ubiquitin-conjugating enzyme E2-25 kDa; Ubiquitin-conjugating enzyme E2-25K; Ubiquitin-protein ligase", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme K; E2(25K); HIP-2; huntingtin-interacting protein 2; ubiquitin carrier protein; ubiquitin conjugating enzyme E2K; ubiquitin-conjugating enzyme E2 K isoform 2; ubiquitin-conjugating enzyme E2(25K); ubiquitin-conjugating enzyme E2-25 KDA; ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast); ubiquitin-protein ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:3093); (R-HSA-8866652); (R-HSA-936440); (R-HSA-983168)", "pathway_count": 4, "publication_count": 101, "publication_id_list": "10634809;10675012;11062501;11237011;11350924;12646216;12665801;14734113;15224091;15224092;15571818;16142244;16595681;16699525;16714285;16715065;16849449;16868077;16954532;17580310;17597759;17873885;17991829;18057259;18200010;18353650;18662542;19028597;19125153;19352404;19407372;19452197;19489725;19608861;19851334;19874575;19881509;19893624;19906396;19940261;20061386;20304918;20434986;21532592;22223895;2261476;23186163;25114211;25645385;26235645;26992070;28218747;28228285;28467828;28510447;28832583;28904123;29242379;29314611;29437277;29493099;29557506;30315122;30524438;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32488085;32502341;32938616;33912179;33968037;34087483;34171305;34357683;34932366;35251023;35580925;36010968;36215666;36241641;36481361;37003132;37938771;38172369;38665916;38963134;6277905;6305978;7851534;8010951;8702625;9380723;9521656;9668046", "class_list": "", "function": "Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro, in the presence or in the absence of BRCA1-BARD1 E3 ubiquitin-protein ligase complex, catalyzes the synthesis of 'Lys-48'-linked polyubiquitin chains. Does not transfer ubiquitin directly to but elongates monoubiquitinated substrate protein. Mediates the selective degradation of short-lived and abnormal proteins, such as the endoplasmic reticulum-associated degradation (ERAD) of misfolded lumenal proteins. Ubiquitinates huntingtin. May mediate foam cell formation by the suppression of apoptosis of lipid-bearing macrophages through ubiquitination and subsequence degradation of p53/TP53. Proposed to be involved in ubiquitination and proteolytic processing of NF-kappa-B; in vitro supports ubiquitination of NFKB1. In case of infection by cytomegaloviruses may be involved in the US11-dependent degradation of MHC class I heavy chains following their export from the ER to the cytosol. In case of viral infections may be involved in the HPV E7 protein-dependent degradation of RB1., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Hypoxia-induced UBE2K promotes the malignant progression of HCC., [RefSeq, PubMed]; Silencing UBE2K inhibits the growth of glioma cells by inducing the autophagy-related apoptosis., [RefSeq, PubMed]; Simulation and Computational Study of RING Domain Mutants of BRCA1 and Ube2k in AD/PD Pathophysiology., [RefSeq, PubMed]; The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; UBE2K promotes the malignant progression of hepatocellular carcinoma by regulating c-Myc., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NJC1;A8K5Y9;B2RDF8;C9JGP1;O54806;P27924;Q16721;Q9CVV9;Q9Y2D3", "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": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "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:0031625 ubiquitin protein ligase binding;GO:0034450 ubiquitin-ubiquitin ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032433 filopodium tip", "go_biological_process": "GO:0010800 positive regulation of peptidyl-threonine phosphorylation;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0070936 protein K48-linked ubiquitination;GO:0035458 cellular response to interferon-beta", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "P61086-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GX1-1", "uniprot_id": [ { "id": "TECT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GX1", "type": "external" } ], "mass": 76871.0, "length": 697, "protein_name": "Tectonic-2", "gene_name": "TCTN2", "organism": "Human", "refseq_name": "tectonic-2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001137322", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137322", "type": "external" } ], "gene_names_uniprotkb": "TCTN2; C12orf38; TECT2", "gene_names_refseq": "C12orf38; JBTS24; MKS8; TCTN2; TECT2", "protein_names_uniprotkb": "Tectonic-2", "protein_names_refseq": "tectonic-2 isoform 2 precursor", "tax_id": 9606, "disease": "Meckel syndrome 8 (Disease Ontology:DOID:0070122); Joubert syndrome 24 (Disease Ontology:DOID:0110993)", "pathway": " (hsa:79867); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16357211;17574030;17646400;17719545;18037885;18694559;18801063;19004860;19081074;19940019;20230748;20308558;20399632;20558667;21273506;21422230;21462283;21548880;21565611;21620453;21725307;21792235;22179047;22433857;22653444;23141531;23141541;23253480;23348840;23400999;23530209;23747070;23769972;23789104;24053599;24089205;24231678;24469809;24982133;25047611;25118024;25313408;25576301;28834231;29769354;31844290;32157095;33590725;33592498;33968037;34087483;34561969;35580925;36241641;36278455;37074911", "class_list": "", "function": "A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin., [RefSeq, PubMed]; A truncating mutation in TCTN2 linked to Meckel Gruber syndrome was shown., [RefSeq, PubMed]; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction (By similarity)., [UniProtKB]; LncRNA TCTN2 Promotes the Malignant Development of Hepatocellular Carcinoma via Regulating mIR-1285-3p/ARF6 Axis., [RefSeq, PubMed]; Network building strategy led to the proposal of candidates for new ciliopathy disease genes, leading to the identification of the first human mutations in the Nephronophthisis gene Ataxin10 (ATXN10) and Joubert syndrome gene Tectonic2 (TCTN2)., [RefSeq, PubMed]; This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 7, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K7Y8;B3KPW5;Q9H966", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036038 MKS complex;GO:0060170 ciliary membrane;GO:0035869 ciliary transition zone", "go_biological_process": "GO:0060271 cilium assembly;GO:0007224 smoothened signaling pathway;GO:1904491 protein localization to ciliary transition zone;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q96GX1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULY5-1", "uniprot_id": [ { "id": "CLC4E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULY5", "type": "external" } ], "mass": 25073.0, "length": 219, "protein_name": "C-type lectin domain family 4 member E", "gene_name": "CLEC4E", "organism": "Human", "refseq_name": "C-type lectin domain family 4 member E isoform 1", "refseq_ac": [ { "id": "NP_055173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055173", "type": "external" } ], "gene_names_uniprotkb": "CLEC4E; CLECSF9; MINCLE; PRO244", "gene_names_refseq": "CLEC4E; CLECSF9; MINCLE", "protein_names_uniprotkb": "C-type lectin domain family 4 member E; C-type lectin superfamily member 9; MINCLE; Macrophage-inducible C-type lectin", "protein_names_refseq": "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9; C-type lectin domain family 4 member E isoform 1; C-type lectin superfamily member 9; macrophage-inducible C-type lectin", "tax_id": 9606, "disease": "", "pathway": " (hsa:26253); (R-HSA-5621480)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10508765;10528209;11110698;11237011;11606584;12945048;12975309;14656219;14702039;15489334;16541075;17050534;18490740;18509109;18776906;18818202;19120481;21880719;22041900;23053572;23507963;23602766;24101491;29557506;30833945;31075410;31852849;32152942;32296183;32971250;32983136;33123756;34376176;39368102;8598452;8972730;9042338", "class_list": "glycogene", "function": "A case-control study on correlation between the single nucleotide polymorphism of CLEC4E and the susceptibility to tuberculosis among Han people in Western China. Publication Status: Online-Only, [RefSeq, PubMed]; CLEC4E (Mincle) genetic variation associates with pulmonary tuberculosis in Guinea-Bissau (West Africa)., [RefSeq, PubMed]; Calcium-dependent lectin that acts as a pattern recognition receptor (PRR) of the innate immune system: recognizes damage-associated molecular patterns (DAMPs) of abnormal self and pathogen-associated molecular patterns (PAMPs) of bacteria and fungi (PubMed:18509109, PubMed:23602766). The PAMPs notably include mycobacterial trehalose 6,6'-dimycolate (TDM), a cell wall glycolipid with potent adjuvant immunomodulatory functions (PubMed:23602766, PubMed:24101491). Interacts with signaling adapter Fc receptor gamma chain/FCER1G to form a functional complex in myeloid cells (By similarity). Binding of mycobacterial trehalose 6,6'-dimycolate (TDM) to this receptor complex leads to phosphorylation of the immunoreceptor tyrosine-based activation motif (ITAM) of FCER1G, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes (By similarity). Also recognizes alpha-mannose residues on pathogenic fungi of the genus Malassezia and mediates macrophage activation (By similarity). Through recognition of DAMPs released upon nonhomeostatic cell death, enables immune sensing of damaged self and promotes inflammatory cell infiltration into the damaged tissue (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Coarse-Graining the Recognition of a Glycolipid by the C-Type Lectin Mincle Receptor., [RefSeq, PubMed]; Important for the initiation of an innate immune response to Candida albicans Review article, [RefSeq, PubMed]; Overview of the accumulated knowledge of the multi-task danger receptor Mincle from its discovery to the latest findings Review article, [RefSeq, PubMed]; Several functional states mediating the interaction of Mincle and yeast at the surface of the macrophage., [RefSeq, PubMed]; This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 302, "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": "B2R6Q6", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0030246 carbohydrate binding;GO:0038187 pattern recognition receptor activity;GO:0051861 glycolipid binding", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0009897 external side of plasma membrane;GO:0030670 phagocytic vesicle membrane", "go_biological_process": "GO:0002221 pattern recognition receptor signaling pathway;GO:0045087 innate immune response;GO:0001819 positive regulation of cytokine production;GO:0061760 antifungal innate immune response", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9ULY5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6K0-1", "uniprot_id": [ { "id": "TEX29_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6K0", "type": "external" } ], "mass": 16649.0, "length": 151, "protein_name": "Testis-expressed protein 29", "gene_name": "TEX29", "organism": "Human", "refseq_name": "testis-expressed protein 29 isoform 1", "refseq_ac": [ { "id": "NP_001290062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290062", "type": "external" } ], "gene_names_uniprotkb": "TEX29; C13orf16", "gene_names_refseq": "C13orf16; TEX29; bA474D23.1", "protein_names_uniprotkb": "Testis-expressed protein 29", "protein_names_refseq": "testis-expressed protein 29 isoform 1; testis-expressed protein 29; testis-expressed sequence 29 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:121793)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;19240061;29557506", "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": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8N6K0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKN8-1", "uniprot_id": [ { "id": "TF3C4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKN8", "type": "external" } ], "mass": 91982.0, "length": 822, "protein_name": "General transcription factor 3C polypeptide 4", "gene_name": "GTF3C4", "organism": "Human", "refseq_name": "general transcription factor 3C polypeptide 4", "refseq_ac": [ { "id": "NP_036336", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036336", "type": "external" } ], "gene_names_uniprotkb": "GTF3C4", "gene_names_refseq": "GTF3C4; KAT12; TF3C-delta; TFIII90; TFIIIC290; TFIIIC90; TFIIICDELTA", "protein_names_uniprotkb": "General transcription factor 3C polypeptide 4; 2.3.1.48; TF3C-delta; TFIIIC 90 kDa subunit; TFIIIC90; Transcription factor IIIC 90 kDa subunit; Transcription factor IIIC subunit delta", "protein_names_refseq": "TFIIIC 90 kDa subunit; general transcription factor 3C 4; general transcription factor 3C polypeptide 4; general transcription factor IIIC, polypeptide 4, 90kDa; transcription factor IIIC 90 kDa subunit; transcription factor IIIC subunit delta", "tax_id": 9606, "disease": "", "pathway": " (hsa:9329); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066)", "pathway_count": 4, "publication_count": 103, "publication_id_list": "10523658;11237011;11419933;12381659;17081983;17409385;18452278;18669648;18691976;19413330;19415658;1946469;19651622;19664994;19664995;19690332;20058876;20068231;20487506;21406692;23186163;23301498;23481700;2404611;24715725;25418920;25576301;25880248;25892735;26154972;26992070;27846572;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30484775;30524438;30779550;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;34019948;34171305;34185709;34561969;34725712;34932366;35051231;35318648;35494241;35580925;36010968;36284347;36581221;37217939;37938771;40914422;7568218;7995525;8407894;8423814;9171375;9312031", "class_list": "", "function": "Essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA, tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin (PubMed:10523658). Has histone acetyltransferase activity (HAT) with unique specificity for free and nucleosomal H3 (PubMed:10523658). May cooperate with GTF3C5 in facilitating the recruitment of TFIIIB and RNA polymerase through direct interactions with BRF1, POLR3C and POLR3F (PubMed:10523658). May be localized close to the A box (PubMed:10523658)., [UniProtKB, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Genome Med. 2010;2(10):76] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q5VZJ7", "ec_number_list": [ { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.3.1.48", "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "2.3.1.259", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.259", "type": "external" }, { "id": "2.3.1.80", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.80", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0000995 RNA polymerase III general transcription initiation factor activity;GO:0036408 histone H3K14 acetyltransferase activity;GO:0004402 histone acetyltransferase activity", "go_cellular_component": "GO:0000127 transcription factor TFIIIC complex;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0042791 5S class rRNA transcription by RNA polymerase III;GO:0042797 tRNA transcription by RNA polymerase III;GO:0006383 transcription by RNA polymerase III;GO:0006384 transcription initiation at RNA polymerase III promoter", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9UKN8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PEX7-1", "uniprot_id": [ { "id": "TEX38_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PEX7", "type": "external" } ], "mass": 23280.0, "length": 206, "protein_name": "Testis-expressed protein 38", "gene_name": "TEX38", "organism": "Human", "refseq_name": "testis-expressed protein 38 isoform 1", "refseq_ac": [ { "id": "NP_001138946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138946", "type": "external" } ], "gene_names_uniprotkb": "TEX38; ATPAF1-AS1; C1orf223", "gene_names_refseq": "ATPAF1-AS1; C1orf223; TEX38; THEG4", "protein_names_uniprotkb": "Testis-expressed protein 38; ATPAF1 antisense RNA 1; ATPAF1 antisense gene protein 1", "protein_names_refseq": "ATPAF1 antisense RNA 1; ATPAF1 antisense gene protein 1; testis highly expressed protein 4; testis-expressed protein 38 isoform 1; testis-expressed protein 38; testis-expressed sequence 38 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:374973)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;29242379", "class_list": "", "function": "Plays an essential role in male fertility. TEX38 and ZDHHC19 form a complex in developing sperm. This complex may regulate S-palmitoylation of the proteins that are essential for generating functional sperm with the correct morphology., [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": "A1A4F8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6PEX7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5H9I0-1", "uniprot_id": [ { "id": "TFDP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5H9I0", "type": "external" } ], "mass": 44967.0, "length": 405, "protein_name": "Transcription factor Dp family member 3", "gene_name": "TFDP3", "organism": "Human", "refseq_name": "transcription factor Dp family member 3", "refseq_ac": [ { "id": "NP_057605", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057605", "type": "external" } ], "gene_names_uniprotkb": "TFDP3; DP4; HCA661", "gene_names_refseq": "CT30; DP4; HCA661; TFDP3", "protein_names_uniprotkb": "Transcription factor Dp family member 3; CT30; Cancer/testis antigen 30; Hepatocellular carcinoma-associated antigen 661", "protein_names_refseq": "E2F-like protein; cancer/testis antigen 30; hepatocellular carcinoma-associated antigen 661; transcription factor Dp family member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:51270)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "12097419;16418725;17062573;20559320;23212661;24406621;27902457;28114432;28797103;29557506;30779550;33691108;35051231", "class_list": "", "function": "Authors established a preclinical model of resistance to induction therapy to examine the functional relevance of TFDP3 to chemoresistance in MRD derived from Jurkat/E6-1., [RefSeq, PubMed]; Competitive inhibitor of E2F-mediated transactivation activity. Impairs E2F-mediated cell-cycle progression from G(1) to S phase., [UniProtKB, PubMed, PubMed, PubMed]; DP-4 downregulating E2F-1 activity and contributes to a new pRb-independent mechanism for regulating cell cycle progression., [RefSeq, PubMed]; Data gathered from cell lines, tumorigenicity studies, and primary hepatocellular carcinoma samples demonstrate a negative role of HIF-2alpha in tumors, which is mediated by the TFDP3/E2F1 pathway. Erratum:[Hepatology. 2018 Feb;67(2):808. doi: 10.1002/hep.29735. PMID: 31265144], [RefSeq, PubMed]; Data highlight that TFDP3 is expressed in breast cancer, that it is a member of the cancer-testis antigen family and that it functions as a regulator in epithelial-mesenchymal transition Publication Status: Online-Only, [RefSeq, PubMed]; TFDP3 can bind to E2F1 molecule to form E2F/TFDP3 complex; and the localizations of TFDP3 and E2F1 molecules and the co-localization were different in different phases of cell cycle in the nucleus and cytoplasm, which indicated that the E2F/TFDP3 complex involved in the process of regulating the cell cycle. Publication Status: Online-Only, [RefSeq, PubMed]; TFDP3 was highly expressed in cancer tissues including prostate cancer tissues.TFDP3 was expressed in coordination with E2F1 in most prostate cancer tissues., [RefSeq, PubMed]; TFDP3, a novel DP protein, inhibits DNA binding and transactivation by E2F, [RefSeq, PubMed]; This gene encodes a member of the DP family of transcription factors. These factors heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. This protein functions as a negative regulator and inhibits the DNA binding and transcriptional activities of E2F factors.[provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 7, "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": "Q6DK49;Q9NZ54", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0140416 transcription regulator inhibitor activity;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006974 DNA damage response;GO:2000134 negative regulation of G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q5H9I0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWB9-1", "uniprot_id": [ { "id": "TEX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWB9", "type": "external" } ], "mass": 125303.0, "length": 1127, "protein_name": "Testis-expressed protein 2", "gene_name": "TEX2", "organism": "Human", "refseq_name": "testis-expressed protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001275661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275661", "type": "external" } ], "gene_names_uniprotkb": "TEX2; KIAA1738; TMEM96", "gene_names_refseq": "HT008; TEX2; TMEM96", "protein_names_uniprotkb": "Testis-expressed protein 2; Transmembrane protein 96", "protein_names_refseq": "testis expressed sequence 2; testis-expressed protein 2 isoform 2; testis-expressed protein 2; testis-expressed sequence 2 protein; transmembrane protein 96", "tax_id": 9606, "disease": "", "pathway": " (hsa:55852); (R-HSA-8980692)", "pathway_count": 2, "publication_count": 201, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18669648;18829452;19494238;19605563;19635168;19673492;19690332;19713215;20030946;20068231;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21699497;21865595;21936715;22096251;22250200;22298643;22305756;22673745;22911862;22992742;23186163;23200924;23255595;23434736;23572525;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24933155;25211221;25576301;25704760;25892735;26371245;26529257;26887924;26992070;27145964;27216196;27481945;27846572;27986909;28011845;28112683;28196833;28584191;28657654;28904123;29146911;29237092;29557506;30192525;30315122;30484775;31105010;31217245;31844290;31871319;32157095;32203420;32350084;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33968037;33981976;34019948;34171305;34357683;35051231;35132862;35254053;35289036;35580925;36010968;36241641;37340703;38665916;39531497;39534244;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "During endoplasmic reticulum (ER) stress or when cellular ceramide levels increase, may induce contacts between the ER and medial-Golgi complex to facilitate non-vesicular transport of ceramides from the ER to the Golgi complex where they are converted to complex sphingolipids, preventing toxic ceramide accumulation., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "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": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q6AHZ5;Q8N3L0;Q9C0C5", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006869 lipid transport;GO:0007165 signal transduction;GO:0006665 sphingolipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 21.3, "record_id": "Q8IWB9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYR6-1", "uniprot_id": [ { "id": "TEFF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYR6", "type": "external" } ], "mass": 40934.0, "length": 380, "protein_name": "Tomoregulin-1", "gene_name": "TMEFF1", "organism": "Human", "refseq_name": "MSANTD3-TMEFF1 fusion protein", "refseq_ac": [ { "id": "NP_001185741", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185741", "type": "external" } ], "gene_names_uniprotkb": "TMEFF1; C9orf2", "gene_names_refseq": "C9orf3-TMEFF1; C9orf30-TMEFF1; MSANTD3-TMEFF1", "protein_names_uniprotkb": "Tomoregulin-1; H7365; TR-1; Transmembrane protein with EGF-like and one follistatin-like domain", "protein_names_refseq": "C9orf30-TMEFF1 readthrough; MSANTD3-TMEFF1 fusion protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100526694); (hsa:8577)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "10.1101/2023.09.13.557529;12743596;16407223;24190977;29557506;31844290;39048823;39048830;8752111", "class_list": "", "function": "Neuron-specific restriction factor that prevents herpes simplex virus 1 (HHV-1) infection in the brain by blocking viral entry (PubMed:39048823, PubMed:39048830). Also able to restrict herpes simplex virus 2 (HHV-2) infection, although to a lesser extent (PubMed:39048823). Acts by preventing the association between the viral glycoprotein D (gD) and its cell surface receptor NECTIN1, thereby inhibiting fusion of the virus and the cell membrane (PubMed:39048823, PubMed:39048830). Also able to prevent the association between the viral glycoprotein B (gB) and MYH9/NMMHC-IIA and MYH10/NMMHC-IIB receptors (PubMed:39048823). May be a tumor suppressor in brain cancers (PubMed:12743596)., [UniProtKB, PubMed, PubMed, PubMed]; This locus represents naturally occurring read-through transcription from the neighboring MSANTD3 (Myb/SANT-like DNA-binding domain containing 3) and TMEFF1 (transmembrane protein with EGF-like and two follistatin-like domains 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [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": 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": "Q13086;Q8N3T8", "ec_number_list": [], "go_molecular_function": "GO:0141069 receptor ligand inhibitor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0046597 host-mediated suppression of symbiont invasion", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8IYR6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NA77-1", "uniprot_id": [ { "id": "TEX19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NA77", "type": "external" } ], "mass": 18469.0, "length": 164, "protein_name": "Testis-expressed protein 19", "gene_name": "TEX19", "organism": "Human", "refseq_name": "testis-expressed protein 19", "refseq_ac": [ { "id": "NP_997342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997342", "type": "external" } ], "gene_names_uniprotkb": "TEX19", "gene_names_refseq": "TEX19", "protein_names_uniprotkb": "Testis-expressed protein 19", "protein_names_refseq": "testis-expressed protein 19; testis-expressed sequence 19 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:400629)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "18096721;18160741;26695143;28228285;28446200;28806172;31843525;31844290;34036740", "class_list": "", "function": "High TEX19 expression is associated with ovarian carcinoma progression., [RefSeq, PubMed]; In silico modeling of the interaction between TEX19 and LIRE1, and analysis of TEX19 gene missense SNPs., [RefSeq, PubMed]; Required during spermatogenesis and placenta development, participating in the repression of retrotransposable elements and prevent their mobilization. Collaborates with the Piwi-interacting RNA (piRNA) pathway, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins. Interacts with Piwi proteins and directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Also during spermatogenesis, promotes, with UBR2, SPO11-dependent recombination foci to accumulate and drive robust homologous chromosome synapsis (By similarity). Interacts with LINE-1 retrotransposon encoded LIRE1, stimulates LIRE1 polyubiquitination, mediated by UBR2, and degradation, inhibiting LINE-1 retrotransposon mobilization (PubMed:28806172)., [UniProtKB, UniProtKB, PubMed]; TEX19 expression in normal tissue is restricted to human testis. TEX19 mRNA expression was detected in 60 % of bladder cancer samples, whereas 58.20 % were positive for TEXT19 protein expression. Compared to low-grade tumors, TEX19 exhibited increased expression in high-grade tumors, from 53.69 to 77.14 %, respectively. TEX19 was also expressed in all six bladder cancer cell lines., [RefSeq, PubMed]; TEX19 is required to drive cell proliferation in a range of cancer cell types, possibly mediated via an oncogenic transcript regulation mechanism. TEX19 expression is linked to a poor prognosis for some cancers and collectively these findings indicate that not only can TEX19 expression serve as a novel cancer biomarker Publication Status: Online-Only, [RefSeq, PubMed]; Tex19 is a mammalian-specific protein duplicated in mouse and rat, renamed Tex19.1 and Tex19.2, whereas only one form is found in human., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0034584 piRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0001890 placenta development;GO:0008584 male gonad development;GO:0007140 male meiotic nuclear division", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NA77-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBZ9-1", "uniprot_id": [ { "id": "TEX47_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBZ9", "type": "external" } ], "mass": 29483.0, "length": 253, "protein_name": "Testis-expressed protein 47", "gene_name": "TEX47", "organism": "Human", "refseq_name": "testis-expressed protein 47", "refseq_ac": [ { "id": "NP_689919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689919", "type": "external" } ], "gene_names_uniprotkb": "TEX47; C7orf62", "gene_names_refseq": "C7orf62; DYBLUF; TEX47", "protein_names_uniprotkb": "Testis-expressed protein 47", "protein_names_refseq": "dynein-associated BLUF protein; testis-expressed protein 47; uncharacterized protein C7orf62", "tax_id": 9606, "disease": "", "pathway": " (hsa:219557)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "32387766;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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8TBZ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUH2-1", "uniprot_id": [ { "id": "TGFA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUH2", "type": "external" } ], "mass": 97158.0, "length": 860, "protein_name": "Transforming growth factor-beta receptor-associated protein 1", "gene_name": "TGFBRAP1", "organism": "Human", "refseq_name": "transforming growth factor-beta receptor-associated protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001136093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136093", "type": "external" } ], "gene_names_uniprotkb": "TGFBRAP1", "gene_names_refseq": "TGFBRAP1; TRAP-1; TRAP1; VPS3", "protein_names_uniprotkb": "Transforming growth factor-beta receptor-associated protein 1; TGF-beta receptor-associated protein 1; TRAP-1; TRAP1", "protein_names_refseq": "TGF-beta receptor-associated protein 1; VPS3 CORVET complex subunit; transforming growth factor-beta receptor-associated protein 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9392)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "10051563;11278302;16886895;18691976;19651622;19754311;20068231;23481700;25266290;25418920;25576301;25892735;26375851;26929215;26992070;27600516;27846572;28063628;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29632046;29786170;30315122;30410026;30461200;30484775;30524438;31020640;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34357683;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37938771;9545258", "class_list": "", "function": "Findings suggest that genetic polymorphisms of TGF-beta1 receptor-associated protein 1 (TGFBRAP1) may contribute to the genetic susceptibility of type 2 diabetes mellitus (T2DM) by mediating diabetes-related miRNA expression., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2., [UniProtKB, PubMed, PubMed]; Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:25266290). Functions predominantly in APPL1-containing endosomes and in degradative but not recycling trafficking of endocytosed cargo (PubMed:25266290)., [UniProtKB, PubMed]; This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5R7;D3DVJ8;O60466", "ec_number_list": [], "go_molecular_function": "GO:0005160 transforming growth factor beta receptor binding;GO:0046332 SMAD binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0016020 membrane;GO:0033263 CORVET complex", "go_biological_process": "GO:0035542 regulation of SNARE complex assembly;GO:0006886 intracellular protein transport;GO:0007165 signal transduction;GO:0006355 regulation of DNA-templated transcription;GO:0007179 transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q8WUH2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXU0-1", "uniprot_id": [ { "id": "TEX12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXU0", "type": "external" } ], "mass": 14107.0, "length": 123, "protein_name": "Testis-expressed protein 12", "gene_name": "TEX12", "organism": "Human", "refseq_name": "testis-expressed protein 12", "refseq_ac": [ { "id": "NP_112565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112565", "type": "external" } ], "gene_names_uniprotkb": "TEX12", "gene_names_refseq": "TEX12", "protein_names_uniprotkb": "Testis-expressed protein 12", "protein_names_refseq": "testis expressed sequence 12; testis-expressed protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:56158); (R-HSA-1221632)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "11279525;11673449;15125634;15235794;19146767;19773279;20634189;22870393;34373646;34880391;37012491;8794855;9008167;9285814", "class_list": "", "function": "A Novel Frameshift Microdeletion of the TEX12 Gene Caused Infertility in Two Brothers with Nonobstructive Azoospermia., [RefSeq, PubMed]; A model of chromosome synapsis driven by growth of SYCE2-TEX12 higher-order structures within the CE of the SC., [RefSeq, PubMed]; Centrosome dysfunction associated with somatic expression of the synaptonemal complex protein TEX12. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase (By similarity). Requires SYCP1 in order to be incorporated into the central element (By similarity)., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Structural basis of meiotic chromosome synaptic elongation through hierarchical fibrous assembly of SYCE2-TEX12., [RefSeq, PubMed]; This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NDL9;B0YIX3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000801 central element;GO:0000794 condensed nuclear chromosome;GO:0005813 centrosome;GO:0036064 ciliary basal body;GO:0005694 chromosome", "go_biological_process": "GO:0007130 synaptonemal complex assembly;GO:0007129 homologous chromosome pairing at meiosis;GO:0007131 reciprocal meiotic recombination;GO:0035825 homologous recombination", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9BXU0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H5Q4-1", "uniprot_id": [ { "id": "TFB2M_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H5Q4", "type": "external" } ], "mass": 45349.0, "length": 396, "protein_name": "Dimethyladenosine transferase 2, mitochondrial", "gene_name": "TFB2M", "organism": "Human", "refseq_name": "dimethyladenosine transferase 2, mitochondrial", "refseq_ac": [ { "id": "NP_071761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071761", "type": "external" } ], "gene_names_uniprotkb": "TFB2M; NS5ATP5", "gene_names_refseq": "Hkp1; TFB2M; h-mtTFB2; h-mtTFB; hTFB2M; mtTFB2", "protein_names_uniprotkb": "Dimethyladenosine transferase 2, mitochondrial; 2.1.1.-; HCV NS5A-transactivated protein 5; Hepatitis C virus NS5A-transactivated protein 5; Mitochondrial 12S rRNA dimethylase 2; Mitochondrial transcription factor B2; S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 2; h-mtTFB2; h-mtTFB; hTFB2M; mtTFB2", "protein_names_refseq": "HCV NS5A-transactivated protein 5; S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 2; dimethyladenosine transferase 2, mitochondrial; hepatitis C virus NS5A-transactivated protein 5; mitochondrial 12S rRNA dimethylase 2; mitochondrial transcription factor B2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64216); (R-HSA-163282); (R-HSA-2151201)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10412986;10643692;10713165;11340167;11809803;12068295;12374852;12563009;12745923;12897151;15526033;15684387;16079181;16079853;16788062;16890199;16908542;16911507;17031457;17437997;17715127;17923681;18215119;18343819;18680753;18980857;19001277;19096125;19356719;19417006;19951946;20410300;23481700;25880248;28228285;28510447;28832583;28904123;29149603;29557506;30315122;31217245;31222486;31844290;31848261;32174027;32505352;32938616;33141586;33691108;33912179;33936100;33981976;34357683;34561969;34744028;35051231;35577351;3594571;36010968;36241641;37217939;7629110;7799916;8108407;8333869;9178750;9286700", "class_list": "", "function": "Mitochondrial transcription factor B2 overexpression increases M2 macrophage infiltration via cytosolic mitochondrial DNA-stimulated Interleukin-6 secretion in ovarian cancer., [RefSeq, PubMed]; Over-expression of TFB2M facilitates cell growth and metastasis via activating ROS-Akt-NF-kappaB signalling in hepatocellular carcinoma., [RefSeq, PubMed]; Phosphorylation of mitochondrial transcription factor B2 controls mitochondrial DNA binding and transcription., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent rRNA methyltransferase which may methylate two specific adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 12S mitochondrial rRNA (Probable). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:12068295, PubMed:15526033, PubMed:20410300, PubMed:29149603). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:15526033, PubMed:29149603). Stimulates transcription independently of the methyltransferase activity (PubMed:12897151)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication., [RefSeq, PubMed]; This transcription factor activates transcription of human mitochondrial DNA., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9H626", "ec_number_list": [ { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0000179 rRNA (adenine-N6,N6-)-dimethyltransferase activity;GO:0034246 mitochondrial transcription factor activity;GO:0008988 rRNA (adenine-N6-)-methyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0031167 rRNA methylation;GO:0006391 transcription initiation at mitochondrial promoter;GO:0006390 mitochondrial transcription", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9H5Q4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIK5-1", "uniprot_id": [ { "id": "TEFF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIK5", "type": "external" } ], "mass": 41428.0, "length": 374, "protein_name": "Tomoregulin-2", "gene_name": "TMEFF2", "organism": "Human", "refseq_name": "tomoregulin-2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001292063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001292063", "type": "external" } ], "gene_names_uniprotkb": "TMEFF2; HPP1; PRO204; TENB2; TPEF", "gene_names_refseq": "CT120.2; HPP1; TENB2; TMEFF2; TPEF; TR-2; TR", "protein_names_uniprotkb": "Tomoregulin-2; Hyperplastic polyposis protein 1; TR-2; Transmembrane protein with EGF-like and two follistatin-like domains", "protein_names_refseq": "cancer/testis antigen family 120, member 2; hyperplastic polyposis protein 1; tomoregulin-2 isoform 2 precursor; tomoregulin-2; transmembrane protein TENB2; transmembrane protein with EGF-like and two follistatin-like domains", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054)", "pathway": " (hsa:23671)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10600548;10903839;10987305;11120884;11668495;12975309;15340161;16439095;16805794;17942404;19139490;32157095;32497621;32559621;34339705;34509645", "class_list": "", "function": "A secreted form of TMEFF2 is expressed from TMEFF2 locus and may functionally interact with full-length TMEFF2, or its binding partners, and may also influence current immune-based treatment strategies, [RefSeq, PubMed]; Long non-coding RNA LINC01963 inhibits progression of pancreatic carcinoma by targeting miR-641/TMEFF2., [RefSeq, PubMed]; May be a survival factor for hippocampal and mesencephalic neurons. The shedded form up-regulates cancer cell proliferation, probably by promoting ERK1/2 phosphorylation., [UniProtKB, PubMed, PubMed]; Prognostic and clinicopathological significance of TMEFF2, SMOC-2, and SOX17 expression in endometrial carcinoma., [RefSeq, PubMed]; Roles of a TMPO-AS1/microRNA-200c/TMEFF2 ceRNA network in the malignant behaviors and 5-FU resistance of ovarian cancer cells., [RefSeq, PubMed]; This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 16, "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": "Q2FA44;Q4ZFW4;Q53H90;Q53RE1;Q8N2R5;Q9NR15;Q9NSS5;Q9P2Y9;Q9UK65", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane", "go_biological_process": "GO:0030154 cell differentiation;GO:0030336 negative regulation of cell migration;GO:0045720 negative regulation of integrin biosynthetic process;GO:0051497 negative regulation of stress fiber assembly;GO:0044319 wound healing, spreading of cells", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9UIK5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6R9-1", "uniprot_id": [ { "id": "KVD24_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6R9", "type": "external" } ], "mass": 13079.0, "length": 120, "protein_name": "Probable non-functional immunoglobulin kappa variable 2D-24", "gene_name": "IGKV2D-24", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKV2D-24", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin kappa variable 2D-24", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11340299;17576170;20176268;22158414;24600447;9619395", "class_list": "immunoglobin", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin light chains (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 250, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A075B6R9-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6X4-1", "uniprot_id": [ { "id": "A0A075B6X4_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6X4", "type": "external" } ], "mass": 2286.0, "length": 22, "protein_name": "T cell receptor alpha joining 28", "gene_name": "TRAJ28", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAJ28", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 28", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A075B6X4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXP5-1", "uniprot_id": [ { "id": "OCAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXP5", "type": "external" } ], "mass": 31101.0, "length": 288, "protein_name": "POU domain class 2-associating factor 2", "gene_name": "POU2AF2", "organism": "Human", "refseq_name": "POU domain class 2-associating factor 2", "refseq_ac": [ { "id": "NP_940900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940900", "type": "external" } ], "gene_names_uniprotkb": "POU2AF2; C11orf53", "gene_names_refseq": "C11orf53; OCA-T1; OCAT1; POU2AF2", "protein_names_uniprotkb": "POU domain class 2-associating factor 2; Oct coactivator from tuft cells 1; POU class 2 homeobox-associating factor 2; Protein OCA-T1", "protein_names_refseq": "POU domain class 2-associating factor 2; oct coactivator from tuft cells 1; protein POU2AF2; uncharacterized protein C11orf53", "tax_id": 9606, "disease": "", "pathway": " (hsa:341032)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;25048349;35576971;36197978;36253350", "class_list": "", "function": "COLCA2 (POU2AF3) and likely C11orf53 (POU2AF2) function as transcriptional co-activators of POU2F3 in tuft cell-like small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell lineage., [RefSeq, PubMed]; Transcriptional coactivator of POU2F3 (PubMed:35576971, PubMed:36197978). This complex drives the development of tuft cells, a rare chemosensory cells that coordinate immune and neural functions within mucosal epithelial tissues (PubMed:35576971)., [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": 2, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A1C7CYV6", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0043565 sequence-specific DNA binding;GO:0070974 POU domain binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8IXP5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GVM6-1", "uniprot_id": [ { "id": "CK097_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM6", "type": "external" } ], "mass": 13914.0, "length": 126, "protein_name": "Uncharacterized protein C11orf97", "gene_name": "C11orf97", "organism": "Human", "refseq_name": "uncharacterized protein C11orf97", "refseq_ac": [ { "id": "NP_001177391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177391", "type": "external" } ], "gene_names_uniprotkb": "C11orf97", "gene_names_refseq": "C11orf97; LINC01171", "protein_names_uniprotkb": "Uncharacterized protein C11orf97", "protein_names_refseq": "long intergenic non-protein coding RNA 1171; uncharacterized protein C11orf97", "tax_id": 9606, "disease": "", "pathway": " (hsa:643037)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036064 ciliary basal body;GO:0097546 ciliary base", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1B0GVM6-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4QN01-1", "uniprot_id": [ { "id": "CJ040_HUMAN", "url": "https://www.uniprot.org/uniprot/A4QN01", "type": "external" } ], "mass": 15288.0, "length": 128, "protein_name": "Putative uncharacterized protein encoded by LINC01553", "gene_name": "LINC01553", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01553; C10orf40", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC01553", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NCD0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A4QN01-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8K7I4-1", "uniprot_id": [ { "id": "CLCA1_HUMAN", "url": "https://www.uniprot.org/uniprot/A8K7I4", "type": "external" } ], "mass": 100226.0, "length": 914, "protein_name": "Calcium-activated chloride channel regulator 1", "gene_name": "CLCA1", "organism": "Human", "refseq_name": "calcium-activated chloride channel regulator 1 precursor", "refseq_ac": [ { "id": "NP_001276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276", "type": "external" } ], "gene_names_uniprotkb": "CLCA1; CACC1", "gene_names_refseq": "CACC1; CACC; CLCA1; CLCRG1; CaCC-1; GOB5; hCLCA1; hCaCC-1", "protein_names_uniprotkb": "Calcium-activated chloride channel regulator 1; 3.4.-.-; CaCC-1; Calcium-activated chloride channel family member 1; Calcium-activated chloride channel protein 1; hCLCA1; hCaCC-1", "protein_names_refseq": "CLCA family member 1, chloride channel regulator; calcium-activated chloride channel family member 1; calcium-activated chloride channel protein 1; calcium-activated chloride channel regulator 1 precursor; calcium-activated chloride channel regulator 1; calcium-dependent chloride channel-1; chloride channel regulator 1; chloride channel, calcium activated, family member 1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); cystic fibrosis (Disease Ontology:DOID:1485); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1179); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10437792;10564087;10642508;10720933;10767424;10830164;10831588;11182090;11445004;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15696080;15916532;15919655;16012037;16151054;16219661;16813530;16849430;16850186;17381423;17448995;17622767;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22299025;22773952;22946059;2298749;23112050;2321095;23616951;2536303;26359375;26562072;28071645;28154142;28790369;29331515;29557506;29789417;29885864;31154438;31570526;31995732;32265295;34087483;34185709;35051231;35580925;36010968;36284347;38593125;38597420;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806;9828122", "class_list": "", "function": "CLCA1 exacerbates lung inflammation via p38 MAPK pathway in acute respiratory distress syndrome., [RefSeq, PubMed]; May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Rab7-dependent regulation of goblet cell protein CLCA1 modulates gastrointestinal homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that CLCA1 is involved in intestinal mucus homeostasis by facilitating processing and removal of mucus to prevent stagnation., [RefSeq, PubMed]; SDR16C5 and SDR16C6 enzymes are not critical for survival but are responsible for most of the retinol dehydrogenase activity in skin, essential for the regulation of the hair-follicle cycle, and required for the maintenance of both sebaceous and meibomian glands, [RefSeq, PubMed]; Structural and Biophysical Analysis of the CLCA1 VWA Domain Suggests Mode of TMEM16A Engagement., [RefSeq, PubMed]; This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation in the IL-9- responsive mucus-producing epithelium of asthmatic subjects supports the hypothesis that this channel may be responsible, in part, for the overproduction of mucus in asthmatic subjects, [RefSeq, PubMed]", "predicted_glycosites": 8, "predicted_n_glycosites": 8, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2RAV5;O95151;Q5TDF4;Q9UNF6;Q9UPC6", "ec_number_list": [ { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0005229 intracellularly calcium-gated chloride channel activity;GO:0005254 chloride channel activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0005902 microvillus;GO:0042589 zymogen granule membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0006816 calcium ion transport;GO:0034220 monoatomic ion transmembrane transport;GO:0071456 cellular response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "A8K7I4-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9JXX5-1", "uniprot_id": [ { "id": "FREY_HUMAN", "url": "https://www.uniprot.org/uniprot/C9JXX5", "type": "external" } ], "mass": 10902.0, "length": 98, "protein_name": "Protein Frey 1", "gene_name": "FREY1", "organism": "Human", "refseq_name": "protein Frey 1", "refseq_ac": [ { "id": "NP_001073915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073915", "type": "external" } ], "gene_names_uniprotkb": "FREY1; C11orf94; FREY", "gene_names_refseq": "C11orf94; FREY1; Frey", "protein_names_uniprotkb": "Protein Frey 1; FREY1; Frey regulator of sperm-oocyte fusion 1", "protein_names_refseq": "protein Frey 1; protein Frey; uncharacterized protein C11orf94", "tax_id": 9606, "disease": "", "pathway": " (hsa:143678)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Key regulator for male fertility expressed transiently in round spermatids where it recruits IZUMO1 at the endoplasmic reticulum (ER) membrane and coordinates the oolemmal binding multimeric complex (IZUMO1 complex) assembly. Upon complete assembly of the IZUMO1 complex, its ER retention is released, facilitating IZUMO1 complex export to the acrosome. Through the interaction with SPPL2C, inhibits its intramembrane protease activity directly accessing the catalytic center of an I-CLiP., [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:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0035036 sperm-egg recognition;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0065003 protein-containing complex assembly;GO:0035437 maintenance of protein localization in endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "C9JXX5-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07065-1", "uniprot_id": [ { "id": "CKAP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07065", "type": "external" } ], "mass": 66022.0, "length": 602, "protein_name": "Cytoskeleton-associated protein 4", "gene_name": "CKAP4", "organism": "Human", "refseq_name": "cytoskeleton-associated protein 4", "refseq_ac": [ { "id": "NP_006816", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006816", "type": "external" } ], "gene_names_uniprotkb": "CKAP4", "gene_names_refseq": "CKAP4; CLIMP-63; CLIMP63; ERGIC-63; p63", "protein_names_uniprotkb": "Cytoskeleton-associated protein 4; 63-kDa cytoskeleton-linking membrane protein; Climp-63; p63", "protein_names_refseq": "63 kDa membrane protein; 63-kDa cytoskeleton-linking membrane protein; cytoskeleton-associated protein 4; transmembrane protein (63kD), endoplasmic reticulum/Golgi intermediate compartment; type-II transmembrane protein p63", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:10970); (R-HSA-381426); (R-HSA-5683826); (R-HSA-6798695); (R-HSA-8957275); (R-HSA-9696264); (R-HSA-9696270)", "pathway_count": 7, "publication_count": 219, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026136;10077652;10218588;10368295;10485905;10496952;10512690;10580105;10614670;10625644;10664463;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11278984;11316783;11522292;11563989;11606061;11739083;11751371;11788658;11940653;12185598;12241545;12244061;12379487;12466191;12810533;12842009;12882447;12904166;1325798;1339284;1370451;1383255;1415726;14732713;15126567;15308688;15469690;15485880;15525596;15642270;1568474;15703217;15738000;15926889;16006481;16199866;1636732;16423266;16481321;16630564;17030514;17047378;17081983;17249697;17287340;1730740;17312271;17496061;17567679;17985932;18020944;18296695;18578522;18669648;18692472;1898081;18996843;19100526;19136556;19144824;1928448;19651622;19824815;20054143;20068230;20068231;20147294;20166139;20338813;20418254;20811643;22536245;23069847;23584533;23590306;23650620;23684610;23922714;24190977;24366607;24690281;24743970;2476804;2479552;2515193;25424900;25548167;25576301;25645385;25813380;2587265;25888806;26091039;2610270;26374642;26375851;26853435;26969432;26992070;27452731;27600516;28228285;28832583;29242379;29393594;29557506;29632711;29786170;29789417;2995821;3037072;30429286;30484775;30524438;31020640;31154438;31530632;31611695;31844290;31848261;31871319;32075961;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33214551;33298915;33465208;33592498;3366248;33912179;33968037;33981976;34019948;34079085;34087483;34171305;34185709;34357683;34470047;34476666;34509645;34631;34725712;34846842;35051231;35154160;35251023;35318648;35580925;36010968;36241641;36284347;37208923;37217939;3755136;37916373;3801783;38665916;39531497;40596516;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7597036;7683646;7689487;8314870;8428971;8522976;8527267;8566419;8636114;8649376;8692836;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9813380;9922210", "class_list": "", "function": "Cytoskeleton-associated protein 4 (CKAP4) promotes malignant progression of human gliomas through inhibition of the Hippo signaling pathway., [RefSeq, PubMed]; DKK1 activates noncanonical NF-kappaB signaling via IL-6-induced CKAP4 receptor in multiple myeloma., [RefSeq, PubMed]; Expression of cytoskeleton-associated protein 4 is associated with poor prognosis and metastasis in nasopharyngeal carcinoma., [RefSeq, PubMed]; High-affinity epithelial cell surface receptor for the FZD8-related low molecular weight sialoglycopeptide APF/antiproliferative factor. Mediates the APF antiproliferative signaling within cells., [UniProtKB, PubMed, PubMed]; Mediates the anchoring of the endoplasmic reticulum to microtubules., [UniProtKB, PubMed]; Plasmalemma vesicle-associated protein promotes angiogenesis in cholangiocarcinoma via the DKK1/CKAP4/PI3K signaling pathway., [RefSeq, PubMed]; Purification and cloning of p62/p63. Review article, [RefSeq, PubMed]; The clinical significance and diagnostic value of serum Dickkopf1 and CKAP4 levels in patients with gastric cancer: a prospective study. Erratum:[Eur Rev Med Pharmacol Sci. 2024 May;28(9):3291. doi: 10.26355/eurrev_202405_36199. PMID: 38766782], [RefSeq, PubMed]; The p62/p63 protein was first identified because it is palmitoylated during mitosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q504S5;Q53ES6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005791 rough endoplasmic reticulum;GO:0005811 lipid droplet;GO:0005856 cytoskeleton", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 23.1, "record_id": "Q07065-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7M8-1", "uniprot_id": [ { "id": "CLC2L_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7M8", "type": "external" } ], "mass": 23927.0, "length": 214, "protein_name": "C-type lectin domain family 2 member L", "gene_name": "CLEC2L", "organism": "Human", "refseq_name": "C-type lectin domain family 2 member L isoform 1", "refseq_ac": [ { "id": "NP_001073980", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073980", "type": "external" } ], "gene_names_uniprotkb": "CLEC2L", "gene_names_refseq": "CLEC2L", "protein_names_uniprotkb": "C-type lectin domain family 2 member L", "protein_names_refseq": "C-type lectin domain family 2 member L isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:154790)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;29557506;33936100", "class_list": "glycogene", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 265, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0C7M8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUA3-1", "uniprot_id": [ { "id": "SPNDC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUA3", "type": "external" } ], "mass": 41037.0, "length": 381, "protein_name": "Spindlin interactor and repressor of chromatin-binding protein", "gene_name": "SPINDOC", "organism": "Human", "refseq_name": "spindlin interactor and repressor of chromatin-binding protein", "refseq_ac": [ { "id": "NP_612480", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612480", "type": "external" } ], "gene_names_uniprotkb": "SPINDOC; C11orf84", "gene_names_refseq": "C11orf84; SPIN-DOC; SPINDOC", "protein_names_uniprotkb": "Spindlin interactor and repressor of chromatin-binding protein; SPIN-DOC; SPIN1-docking protein", "protein_names_refseq": "SPIN1 docking protein; hypothetical protein BC007540; spindlin interactor and repressor of chromatin-binding protein; uncharacterized protein C11orf84", "tax_id": 9606, "disease": "", "pathway": " (hsa:144097)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;17081983;18220336;18452278;18669648;19413330;19415658;19651622;19664994;19664995;19690332;20068231;21406692;23186163;23301498;23481700;25218447;25755297;25772364;26154972;26992070;27846572;28228285;28832583;28834231;28904123;29061846;29242379;29632711;30429286;30803761;31844290;32157095;32161166;32357974;32938616;33141586;33298915;33574238;33936100;34087483;34211107;34737271;34932366;36241641;37977297", "class_list": "", "function": "Chromatin protein that stabilizes SPIN1 and enhances its association with histone H3 trimethylated at both 'Lys-4' and 'Lys-9' (H3K4me3K9me3) (PubMed:33574238). Positively regulates poly-ADP-ribosylation in response to DNA damage; acts by facilitating PARP1 ADP-ribosyltransferase activity (PubMed:34737271)., [UniProtKB, PubMed, PubMed]; Identified SPIN.DOC as a transcriptional repressor that binds SPIN1 and masks its ability to engage the H3-Lys-4 trimethylation activation mark, [RefSeq, PubMed]; Molecular Basis for SPINDOC-Spindlin1 Engagement and Its Role in Transcriptional Attenuation., [RefSeq, PubMed]; SPINDOC Interacts with SPIN1 in DNA independent manner. SPINDOC regulates expression and chromatin loading of SPIN1., [RefSeq, PubMed]; SPINDOC binds PARP1 to facilitate PARylation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q68CV7;Q6PHS2;Q96IH0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0090734 site of DNA damage", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0006974 DNA damage response;GO:0010835 regulation of protein ADP-ribosylation", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9BUA3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75596-1", "uniprot_id": [ { "id": "CLC3A_HUMAN", "url": "https://www.uniprot.org/uniprot/O75596", "type": "external" } ], "mass": 22233.0, "length": 197, "protein_name": "C-type lectin domain family 3 member A", "gene_name": "CLEC3A", "organism": "Human", "refseq_name": "C-type lectin domain family 3 member A precursor", "refseq_ac": [ { "id": "NP_005743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005743", "type": "external" } ], "gene_names_uniprotkb": "CLEC3A; CLECSF1; PRO1345", "gene_names_refseq": "CLEC3A; CLECSF1", "protein_names_uniprotkb": "C-type lectin domain family 3 member A; C-type lectin superfamily member 1; Cartilage-derived C-type lectin", "protein_names_refseq": "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived); C-type lectin domain family 3 member A precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10143)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10524194;11237011;12975309;19173304;19844255;31129920;32319617;34357683;35318648;35864364", "class_list": "glycogene", "function": "C-type lectin domain-containing protein CLEC3A regulates proliferation, regeneration and maintenance of nucleus pulposus cells. Publication Status: Online-Only, [RefSeq, PubMed]; CLEC3A binds to heparan sulfate proteoglycans on cell surface, leading to the enhancement of cell adhesion to integrin ligands on ECM; cleavage of CLEC3A by MMP-7 weakens the stable adhesion of tumor cells to the matrix, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Promotes cell adhesion to laminin-332 and fibronectin., [UniProtKB]; Suppression of CLEC3A inhibits osteosarcoma cell proliferation and promotes their chemosensitivity through the AKT1/mTOR/HIF1alpha signaling pathway., [RefSeq, PubMed]; We demonstrated that the recurrence potential in PNETs is characterized by the upregulation of genes related to ECM organization and cell adhesion. This study identified three genes-CLEC3, MMP7, and LCN2-that contribute to the prediction of postoperative recurrence of PNETs in clinical practice., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 378, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8C4;Q3SX91;Q6UXF5", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0001501 skeletal system development;GO:0001503 ossification", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "O75596-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95832-1", "uniprot_id": [ { "id": "CLD1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95832", "type": "external" } ], "mass": 22744.0, "length": 211, "protein_name": "Claudin-1", "gene_name": "CLDN1", "organism": "Human", "refseq_name": "claudin-1", "refseq_ac": [ { "id": "NP_066924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066924", "type": "external" } ], "gene_names_uniprotkb": "CLDN1; CLD1; PRO944; SEMP1", "gene_names_refseq": "CLD1; CLDN1; ILVASC; SEMP1", "protein_names_uniprotkb": "Claudin-1; Senescence-associated epithelial membrane protein", "protein_names_refseq": "claudin-1; senescence-associated epithelial membrane protein 1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); reticulate acropigmentation of Kitamura (Disease Ontology:DOID:0060258); alcohol-associated liver disease (Disease Ontology:DOID:0070658); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); traumatic brain injury (Disease Ontology:DOID:0081292); Alzheimer's disease 18 (Disease Ontology:DOID:0110050); Alzheimer's disease (Disease Ontology:DOID:10652); thoracic aortic aneurysm (Disease Ontology:DOID:14004); status epilepticus (Disease Ontology:DOID:1824); atopic dermatitis (Disease Ontology:DOID:3310); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684); hepatoblastoma (Disease Ontology:DOID:687); periodontitis (Disease Ontology:DOID:824); cataract (Disease Ontology:DOID:83); Crohn's disease (Disease Ontology:DOID:8778); diabetic retinopathy (Disease Ontology:DOID:8947); colorectal cancer (Disease Ontology:DOID:9256); irritable bowel syndrome (Disease Ontology:DOID:9778); neonatal ichthyosis-sclerosing cholangitis syndrome (MONDO:MONDO:0011874)", "pathway": " (hsa:9076); (R-HSA-420029); (R-HSA-9918485)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "10828592;11071387;11337487;11447115;11964389;12682107;12953056;12975309;15098107;15507651;15521008;15838506;16129888;16619213;17325668;18266465;20375010;21516087;21569618;23084921;23407391;23658209;23704991;24038151;24074594;26056282;26212330;26281891;26468529;27832191;29610346;29742433;30734065;31398894;31720911;33968037;35051231;38157366;38308285;38375549;38415551;38711223;9931503", "class_list": "", "function": "(Microbial infection) Acts as a co-receptor for hepatitis C virus (HCV) in hepatocytes (PubMed:17325668, PubMed:20375010, PubMed:24038151). Associates with CD81 and the CLDN1-CD81 receptor complex is essential for HCV entry into host cell (PubMed:20375010). Acts as a receptor for dengue virus (PubMed:24074594)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; CLDN1 knock out keratinocytes as a model to investigate multiple skin disorders., [RefSeq, PubMed]; Claudin-1 as a novel target gene induced in obesity and associated to inflammation, fibrosis, and cell differentiation., [RefSeq, PubMed]; Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members play essential roles in the formation of impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN1 is required to prevent the paracellular diffusion of small molecules through tight junctions in the epidermis and is required for the normal barrier function of the skin. Required for normal water homeostasis and to prevent excessive water loss through the skin, probably via an indirect effect on the expression levels of other proteins, since CLDN1 itself seems to be dispensable for water barrier formation in keratinocyte tight junctions (PubMed:23407391)., [UniProtKB, PubMed]; Immunohistochemical Expression of Claudin-1 and Claudin-4 in Urothelial Carcinoma of the Urinary Bladder. Publication Status: Online-Only, [RefSeq, PubMed]; Roles of epidermal growth factor receptor, claudin-1 and occludin in multi-step entry of hepatitis C virus into polarized hepatoma spheroids. Publication Status: Online-Only, [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. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; USP40 promotes hepatocellular carcinoma cell proliferation, migration and stemness by deubiquitinating and stabilizing Claudin1. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 0, "mined_o_glycosites": 4, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 20, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity;GO:0001618 virus receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0032496 response to lipopolysaccharide;GO:0045471 response to ethanol;GO:0051259 protein complex oligomerization;GO:0061436 establishment of skin barrier", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "O95832-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51797-1", "uniprot_id": [ { "id": "CLCN6_HUMAN", "url": "https://www.uniprot.org/uniprot/P51797", "type": "external" } ], "mass": 97289.0, "length": 869, "protein_name": "H(+)/Cl(-) exchange transporter 6", "gene_name": "CLCN6", "organism": "Human", "refseq_name": "H(+)/Cl(-) exchange transporter 6 isoform 2", "refseq_ac": [ { "id": "NP_001243888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243888", "type": "external" } ], "gene_names_uniprotkb": "CLCN6; KIAA0046", "gene_names_refseq": "CLC-6; CLCN6; CONRIBA", "protein_names_uniprotkb": "H(+)/Cl(-) exchange transporter 6; Chloride channel protein 6; Chloride transport protein 6; ClC-6", "protein_names_refseq": "H(+)/Cl(-) exchange transporter 6 isoform 2; H(+)/Cl(-) exchange transporter 6; chloride channel, voltage-sensitive 6; chloride transport protein 6; chloride voltage-gated channel 6", "tax_id": 9606, "disease": "neuronal ceroid lipofuscinosis 15 (Disease Ontology:DOID:0061189); spermatogenic failure 87 (Disease Ontology:DOID:0070586); neuronal ceroid lipofuscinosis 3 (Disease Ontology:DOID:0110731); coronary artery disease (Disease Ontology:DOID:3393)", "pathway": " (hsa:1185); (R-HSA-2672351); (R-HSA-6802952)", "pathway_count": 3, "publication_count": 135, "publication_id_list": "10198195;10500249;10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15630448;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17534424;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;18974108;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20525693;20526349;20538786;21040849;21424530;21527911;21984732;22002868;22745804;22773952;22946059;2298749;23112050;2321095;23481700;23583981;23616951;24135138;24345920;24715725;25204415;2536303;25502872;25645385;25907612;26359375;26562072;26658788;27846572;27920218;28071645;28154142;28218747;28467828;28790369;28904123;29242379;29314611;29393594;29437277;29557506;29632046;30573663;31217245;31844290;32157095;32350084;32387766;32938616;33217309;33298915;33392160;33737586;33968037;34171305;34357683;35051231;36010968;37831762;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8543009;8544406;8626462;8809036;9037075;9224655;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl(-)/H(+)-Exchanger, Causes Early-Onset Neurodegeneration., [RefSeq, PubMed]; Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular basis of ClC-6 function and its impairment in human disease., [RefSeq, PubMed]; These findings implicate the effect of rare coding variants in CLCN6 in Blood Pressure variation and offer new insights into Blood Pressure regulation., [RefSeq, PubMed]; This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]., [RefSeq]; Voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the late endosome lumen. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K1T4;B4DGT7;F8W9R3;O60818;O60819;O60820;O60821;P78520;P78521;Q17R81;Q5SNW2;Q5SNW3;Q5SNX1;Q5SNX2;Q5SNX3;Q99427;Q99428;Q99429", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0015297 antiporter activity;GO:0005247 voltage-gated chloride channel activity", "go_cellular_component": "GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0034220 monoatomic ion transmembrane transport;GO:0006884 cell volume homeostasis;GO:0009612 response to mechanical stimulus;GO:0006821 chloride transport", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P51797-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51800-1", "uniprot_id": [ { "id": "CLCKA_HUMAN", "url": "https://www.uniprot.org/uniprot/P51800", "type": "external" } ], "mass": 75285.0, "length": 687, "protein_name": "Chloride channel protein ClC-Ka", "gene_name": "CLCNKA", "organism": "Human", "refseq_name": "chloride channel protein ClC-Ka isoform 2", "refseq_ac": [ { "id": "NP_001036169", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036169", "type": "external" } ], "gene_names_uniprotkb": "CLCNKA", "gene_names_refseq": "CLCK1; CLCNKA; ClC-K1; hClC-Ka", "protein_names_uniprotkb": "Chloride channel protein ClC-Ka; Chloride channel Ka; ClC-K1", "protein_names_refseq": "chloride channel Ka; chloride channel protein ClC-Ka isoform 2; chloride channel protein ClC-Ka; chloride channel, kidney, A; chloride channel, voltage-sensitive Ka", "tax_id": 9606, "disease": "Baraitser-Winter syndrome 1 (Disease Ontology:DOID:0081112); atrial heart septal defect 5 (Disease Ontology:DOID:0110110); Bartter disease type 3 (Disease Ontology:DOID:0110144); Bartter disease type 4b (Disease Ontology:DOID:0110146); hypertrophic cardiomyopathy 11 (Disease Ontology:DOID:0110317); dilated cardiomyopathy 1R (Disease Ontology:DOID:0110456); autosomal dominant nonsyndromic deafness 20 (Disease Ontology:DOID:0110550); sensorineural hearing loss (Disease Ontology:DOID:10003); intestinal atresia (Disease Ontology:DOID:10486); hypertension (Disease Ontology:DOID:10763); nephrogenic diabetes insipidus (Disease Ontology:DOID:12387); dilated cardiomyopathy (Disease Ontology:DOID:12930); Moyamoya disease (Disease Ontology:DOID:13099); patent ductus arteriosus (Disease Ontology:DOID:13832); thoracic aortic aneurysm (Disease Ontology:DOID:14004); myopathy (Disease Ontology:DOID:423); Bartter disease (Disease Ontology:DOID:445)", "pathway": " (hsa:1187); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11588175;11687798;11734858;11842292;11904445;11956057;12111250;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17081983;17381423;17448995;17562318;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;18776122;19153159;19307298;19380724;19387438;19620632;19646679;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23112050;23148261;2321095;23616951;2536303;26013830;26359375;26562072;26992070;28071645;28154142;28228285;28790369;29557506;29674316;29731959;31844290;32581267;33912179;35051231;38069401;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide (PubMed:11734858, PubMed:12111250). Forms a homodimeric channel where each subunit has its own ion conduction pathway. May conduct double-barreled currents controlled by two types of gates, two fast gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously (PubMed:11734858, PubMed:12111250, PubMed:18310267, PubMed:18776122, PubMed:19646679, PubMed:20538786). Assembles with the regulatory subunit BSND/Barttin for sorting at the basolateral plasma membrane domain and functional switch to the ion conducting state. CLCNKA:BSND channels display mostly a linear current-voltage relationship with fast gating at negative potentials (PubMed:11734858, PubMed:12111250, PubMed:18310267, PubMed:18776122, PubMed:20538786). Mediates transepithelial chloride transport from the lumen to interstitial compartment along the thin ascending limb of Henle's loop, contributing to generation of hypertonic medullary interstitium as a countercurrent system to achieve urine concentration (By similarity) (PubMed:15044642). Conducts chloride currents in the stria vascularis of the inner ear to establish the endocochlear potential necessary for normal hearing (PubMed:15044642, PubMed:18310267, PubMed:19646679)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss. Publication Status: Online-Only, [RefSeq, PubMed]; Increasing expression of barttin over that of ClC-K partially recovered this insufficiency, indicating that N-terminal modifications of barttin alter both binding affinities and gating properties, [RefSeq, PubMed]; R8W and G47R, two naturally occurring barttin mutations identified in patients with Bartter syndrome type IV, reduce barttin palmitoylation and CLC-K/barttin channel activity., [RefSeq, PubMed]; Role of PKC in the Regulation of the Human Kidney Chloride Channel ClC-Ka. Erratum:[Sci Rep. 2020 Sep 30;10(1):16469. doi: 10.1038/s41598-020-74040-w. PMID: 32994445] Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 17, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DPD3;E7EPH6;Q5T5P8;Q5T5Q4;Q7Z6D1;Q86VT1", "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:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0005247 voltage-gated chloride channel activity;GO:0005254 chloride channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0034707 chloride channel complex", "go_biological_process": "GO:0006821 chloride transport;GO:0070293 renal absorption;GO:0030321 transepithelial chloride transport", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "P51800-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUJ2-1", "uniprot_id": [ { "id": "CK087_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUJ2", "type": "external" } ], "mass": 20623.0, "length": 197, "protein_name": "Uncharacterized protein C11orf87", "gene_name": "C11orf87", "organism": "Human", "refseq_name": "uncharacterized protein C11orf87 precursor", "refseq_ac": [ { "id": "NP_997528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997528", "type": "external" } ], "gene_names_uniprotkb": "C11orf87", "gene_names_refseq": "C11orf87; LOH11CR1A; NEURIM1", "protein_names_uniprotkb": "Uncharacterized protein C11orf87", "protein_names_refseq": "neuronal integral membrane protein 1; uncharacterized protein C11orf87 precursor; uncharacterized protein C11orf87", "tax_id": 9606, "disease": "", "pathway": " (hsa:399947)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "32179078;33886682;37074911", "class_list": "", "function": "Methylomic analysis identifies C11orf87 as a novel epigenetic biomarker for GI cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Suppression of miR-147b contributed to H37Rv-infected macrophage viability and migration in tuberculosis in vitro., [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": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4E169", "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": "Q6NUJ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUN7-1", "uniprot_id": [ { "id": "JHY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUN7", "type": "external" } ], "mass": 88569.0, "length": 778, "protein_name": "Jhy protein homolog", "gene_name": "JHY", "organism": "Human", "refseq_name": "jhy protein homolog isoform 1", "refseq_ac": [ { "id": "NP_079082", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079082", "type": "external" } ], "gene_names_uniprotkb": "JHY; C11orf63", "gene_names_refseq": "C11orf63; JHY", "protein_names_uniprotkb": "Jhy protein homolog", "protein_names_refseq": "jhy protein homolog isoform 1; jhy protein homolog; juvenile hydrocephalus; uncharacterized protein C11orf63", "tax_id": 9606, "disease": "", "pathway": " (hsa:79864)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "26992070;27600516;29242379;29485866;29557506;30379171;30429286;32387766;34087483;35051231", "class_list": "", "function": "Required for the normal development of cilia in brain ependymal cells lining the ventricular surfaces., [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": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K6G0;Q96GB5;Q9H5D6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0007420 brain development;GO:0035082 axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6NUN7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UVW9-1", "uniprot_id": [ { "id": "CLC2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UVW9", "type": "external" } ], "mass": 19972.0, "length": 174, "protein_name": "C-type lectin domain family 2 member A", "gene_name": "CLEC2A", "organism": "Human", "refseq_name": "C-type lectin domain family 2 member A isoform 1", "refseq_ac": [ { "id": "NP_001124183", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124183", "type": "external" } ], "gene_names_uniprotkb": "CLEC2A; KACL; PRO19597", "gene_names_refseq": "CLEC2A; INPE5792; KACL; PILAR; UNQ5792", "protein_names_uniprotkb": "C-type lectin domain family 2 member A; KACL; Keratinocyte-associated C-type lectin; PILAR; Proliferation-induced lymphocyte-associated receptor", "protein_names_refseq": "C-type lectin domain family 2 member A isoform 1; keratinocyte-associated C-type lectin; proliferation-induced lymphocyte-associated receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:387836)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "12975309;18046548;18550855;19630798;20194751;23803857;25510854;26416420;27960039;31901221;32061658", "class_list": "glycogene", "function": "A Comprehensive Tyrosine Phosphoproteomic Analysis Reveals Novel Components of the Platelet CLEC-2 Signaling Cascade., [RefSeq, PubMed]; CLEC-2 is the receptor for podoplanin, a sialoglycoprotein implicated in tumor-induced platelet aggregation and tumor metastasis[review] Review article, [RefSeq, PubMed]; Keratinocytes express KACL and are capable of stimulating NKp65-expressing cells in a KACL-dependent manner., [RefSeq, PubMed]; Membrane-bound protein expressed mainly on keratinocytes which acts as a ligand to stimulate the activating receptor NKp65/KLRF2, expressed on the surface of natural killer (NK) cells (PubMed:25510854). Facilitates thereby dedicated immune recognition of keratinocytes leading to natural killer cell mediated cytotoxicity (PubMed:20194751). Also plays a role in modulating the extent of T-cell expansion (PubMed:18550855)., [UniProtKB, PubMed, PubMed, PubMed]; NK Cell and Fibroblast-Mediated Regulation of Skin Squamous Cell Carcinoma Invasion by CLEC2A Is Compromised in Xeroderma Pigmentosum., [RefSeq, PubMed]; PDGF upregulates the expression of CLEC-2 on dendritic cells to induce T regulatory cells., [RefSeq, PubMed]; Review of C-type lectin-like receptor 2 and podoplanin interactions [review] Review article, [RefSeq, PubMed]; T-cell PILAR signaling through CD161 supports CD3 antibody-dependent and antigen-specific T-cell proliferation by increasing the expression of antiapoptotic Bcl-xL and induces secretion of T helper type 1 cytokines, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 214, "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": "A5Y4G5;A9QKS2;A9QKS3", "ec_number_list": [], "go_molecular_function": "GO:0046703 natural killer cell lectin-like receptor binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0030246 carbohydrate binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0050852 T cell receptor signaling pathway;GO:0042267 natural killer cell mediated cytotoxicity;GO:0051132 NK T cell activation", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q6UVW9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7J9-1", "uniprot_id": [ { "id": "CK2N1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7J9", "type": "external" } ], "mass": 8553.0, "length": 78, "protein_name": "Calcium/calmodulin-dependent protein kinase II inhibitor 1", "gene_name": "CAMK2N1", "organism": "Human", "refseq_name": "calcium/calmodulin-dependent protein kinase II inhibitor 1", "refseq_ac": [ { "id": "NP_061054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061054", "type": "external" } ], "gene_names_uniprotkb": "CAMK2N1", "gene_names_refseq": "CAMK2N1; PRO1489", "protein_names_uniprotkb": "Calcium/calmodulin-dependent protein kinase II inhibitor 1; CaMKII inhibitory protein alpha; CaMKIIN-alpha", "protein_names_refseq": "CaMKIINalpha; caMKII inhibitory protein alpha; caMKIIN-alpha; calcium/calmodulin-dependent protein kinase II inhibitor 1", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); prostate cancer (Disease Ontology:DOID:10283); ovarian cancer (Disease Ontology:DOID:2394); prostate adenocarcinoma (Disease Ontology:DOID:2526); papillary thyroid carcinoma (Disease Ontology:DOID:3969); ovarian carcinoma (Disease Ontology:DOID:4001); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:55450)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "18305109;25003983;25296973;25576301;26154972;26175272;27600516;28832583;29393594;29557506;29786170;29789417;30429286;30779550;31154438;31222486;31844290;31848261;32157095;32897882;32902386;32938616;33068700;33537174;33592498;33968037;33981976;34087483;34405274;35051231;35318648;35998547;36010968;36284347;37938771;38180718;38980439", "class_list": "", "function": "Analyses suggest that CAMK2N1 plays a tumor suppressive role in prostate cancer cells. Reduced CAMK2N1 expression correlates to human prostate cancer progression and predicts poor clinical outcome., [RefSeq, PubMed]; Breakage of the oligomeric CaMKII hub by the regulatory segment of the kinase. Publication Status: Online-Only, [RefSeq, PubMed]; CAMK2N1 has a cancer-suppressive function in colorectal carcinoma via effects on the Wnt/beta-catenin pathway., [RefSeq, PubMed]; CAMK2N1 suppresses hepatoma growth through inhibiting E2F1-mediated cell-cycle signaling., [RefSeq, PubMed]; Circ-IP6K2 suppresses tumor progression by modulating the miR-1292-5p/CAMK2N1 signal in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Contributes to prostate cancer growth and survival through androgen receptor-dependent signaling, [RefSeq, PubMed]; Hypermethylation of RUNX3/CAMK2N1 is associated with poor clinical outcome in Type II EOC, also after macroscopic complete resection., [RefSeq, PubMed]; N6-methyladenosine-induced miR-182-5p promotes multiple myeloma tumorigenesis by regulating CAMK2N1., [RefSeq, PubMed]; Potent and specific inhibitor of CaM-kinase II (CAMK2) (By similarity). Plays a role in the maintenance of long-term retrieval-induced memory in response to contextual fear (By similarity). Modulates blood pressure and vascular reactivity via regulation of CAMK2 activity in addition to regulation of left ventricular mass (By similarity). Mediates the NLRP3 inflammasome in cardiomyocytes via acting as an inhibitor of the MAPK14/p38 and MAPK8/JNK pathways, thereby regulating ventricular remodeling and cardiac rhythm post-myocardial infarction (By similarity). Negatively effects insulin sensitivity and promotes lipid formation in adipose tissues independent of CAMK2 signaling (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0008427 calcium-dependent protein kinase inhibitor activity", "go_cellular_component": "GO:0014069 postsynaptic density;GO:0030425 dendrite;GO:0045202 synapse", "go_biological_process": "GO:0050729 positive regulation of inflammatory response;GO:0007616 long-term memory", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q7Z7J9-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WS4-1", "uniprot_id": [ { "id": "RDIC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WS4", "type": "external" } ], "mass": 74505.0, "length": 652, "protein_name": "Regulator of DNA class I crossover intermediates 1", "gene_name": "REDIC1", "organism": "Human", "refseq_name": "regulator of DNA class I crossover intermediates 1 isoform 1", "refseq_ac": [ { "id": "NP_001026918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026918", "type": "external" } ], "gene_names_uniprotkb": "REDIC1; C12orf40", "gene_names_refseq": "C12orf40; HEIP1; HEL-206; HEL-S-94; REDIC1", "protein_names_uniprotkb": "Regulator of DNA class I crossover intermediates 1", "protein_names_refseq": "HEI10 Interacting Protein 1; epididymis luminal protein 206; epididymis secretory protein Li 94; regulator of DNA class I crossover intermediates 1 isoform 1; uncharacterized protein C12orf40", "tax_id": 9606, "disease": "", "pathway": " (hsa:283461)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "18491316;29557506;32488085;33392160;34171305;35051231;37604834;37612290", "class_list": "", "function": "Involved in recombination, probably acting by stabilizing recombination intermediates during meiotic crossover formation. Required for normal germline development and fertility. Required for meiotic progression, complete chromosomal synapsis and crossover formation. Binds double-stranded DNA. However, also binds branched DNA molecules, such as those containing a D-loop or Holliday junction structure. Probably not required for formation of DNA double-strand breaks (DSBs). Also binds RNA in an RNA structure-independent manner, with a preference for binding 3'-UTR regions of mRNAs; may stabilize bound RNAs., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7WNU1;Q8IXY6;Q8N818;V9HW02", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005694 chromosome", "go_biological_process": "GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q86WS4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1V8-1", "uniprot_id": [ { "id": "CJ085_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1V8", "type": "external" } ], "mass": 13299.0, "length": 128, "protein_name": "Uncharacterized protein encoded by LINC01561", "gene_name": "LINC01561", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01561; C10orf85", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein encoded by LINC01561", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8N1V8-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBR9-1", "uniprot_id": [ { "id": "CK072_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBR9", "type": "external" } ], "mass": 27887.0, "length": 251, "protein_name": "Uncharacterized protein NDUFV1-DT", "gene_name": "NDUFV1-DT", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "NDUFV1-DT; C11orf72", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein NDUFV1-DT; NDUFV1 divergent transcript", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "28228285;30379171;31844290", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NBR9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEF2-1", "uniprot_id": [ { "id": "CJ105_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEF2", "type": "external" } ], "mass": 14519.0, "length": 133, "protein_name": "Uncharacterized protein C10orf105", "gene_name": "C10orf105", "organism": "Human", "refseq_name": "uncharacterized protein C10orf105", "refseq_ac": [ { "id": "NP_001157847", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157847", "type": "external" } ], "gene_names_uniprotkb": "C10orf105", "gene_names_refseq": "C10orf105", "protein_names_uniprotkb": "Uncharacterized protein C10orf105", "protein_names_refseq": "uncharacterized protein C10orf105", "tax_id": 9606, "disease": "", "pathway": " (hsa:414152)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8TEF2-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2X3-1", "uniprot_id": [ { "id": "CLC4M_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2X3", "type": "external" } ], "mass": 45350.0, "length": 399, "protein_name": "C-type lectin domain family 4 member M", "gene_name": "CLEC4M", "organism": "Human", "refseq_name": "C-type lectin domain family 4 member M isoform 3", "refseq_ac": [ { "id": "NP_001138383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138383", "type": "external" } ], "gene_names_uniprotkb": "CLEC4M; CD209L1; CD209L; CD299", "gene_names_refseq": "CD209L1; CD209L; CD299; CLEC4M; DC-SIGN2; DC-SIGNR; DCSIGNR; HP10347; L-SIGN; LSIGN", "protein_names_uniprotkb": "C-type lectin domain family 4 member M; CD209 antigen-like protein 1; DC-SIGN-related protein; DC-SIGN2; DC-SIGNR; Dendritic cell-specific ICAM-3-grabbing non-integrin 2; L-SIGN; Liver/lymph node-specific ICAM-3-grabbing non-integrin", "protein_names_refseq": "C-type lectin domain family 4 member M isoform 3; CD209 antigen-like protein 1; CD299 antigen; DC-SIGN-related protein; dendritic cell-specific ICAM-3-grabbing non-integrin 2; liver/lymph node-specific ICAM-3 grabbing non-integrin; mannose binding C-type lectin DC-SIGNR", "tax_id": 9606, "disease": "extrapulmonary tuberculosis (Disease Ontology:DOID:0050598); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pulmonary tuberculosis (Disease Ontology:DOID:2957)", "pathway": " (hsa:10332); (R-HSA-9833110)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10072769;10975799;11226297;11237011;11257134;11337487;11384997;11607032;11739956;12050398;12433371;12502850;14702039;14976261;15057824;15195147;15371595;15479853;15489334;15496474;15509576;15784257;16369534;16415006;16816373;17037540;18420935;20410276;21191006;21203928;21277928;22090124;24156700;24623090;25854864;29557506;31154438;32387766;32607506;32660065;32705212;32766577;32983136;34341769;34464958;34509645;35051231;35580925;36102648;36215666;38791534", "class_list": "glycogene", "function": "(Microbial infection) Acts as an attachment receptor for Ebolavirus., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; (Microbial infection) Acts as an attachment receptor for HIV-1., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as an attachment receptor for Hepatitis C virus., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as an attachment receptor for Human coronavirus 229E., [UniProtKB, PubMed]; (Microbial infection) Acts as an attachment receptor for Human cytomegalovirus/HHV-5., [UniProtKB, PubMed]; (Microbial infection) Acts as an attachment receptor for Influenzavirus., [UniProtKB, PubMed]; (Microbial infection) Acts as an attachment receptor for Japanese encephalitis virus., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; (Microbial infection) Acts as an attachment receptor for Marburg virus glycoprotein., [UniProtKB, PubMed]; (Microbial infection) Acts as an attachment receptor for SARS-CoV., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; (Microbial infection) Acts as an attachment receptor for West-nile virus., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; (Microbial infection) Recognition of M.bovis by dendritic cells may occur partially via this molecule., [UniProtKB, PubMed]; Crystal forms of truncated DC-SIGNR comprising two neck repeats and the carbohydrate-recognition domain reveal that the CRDs are flexibly linked to the neck, which contains alpha-helical segments interspersed with non-helical regions, [RefSeq, PubMed]; Genetic risk association study shows that individuals homozygous for CLEC4M tandem repeats are less susceptible to SARS infection., [RefSeq, PubMed]; Probable pathogen-recognition receptor involved in peripheral immune surveillance in liver. May mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. Is a receptor for ICAM3, probably by binding to mannose-like carbohydrates., [UniProtKB, PubMed]; Relationship between the Number of Repeats in the Neck Regions of L-SIGN and Augmented Virus Replication and Immune Responses in Dengue Hemorrhagic Fever. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a C-type lectin that functions in cell adhesion and pathogen recognition. This receptor recognizes a wide range of evolutionarily divergent pathogens with a large impact on public health, including tuberculosis mycobacteria, and viruses including Ebola, hepatitis C, HIV-1, influenza A, West Nile virus and the SARS-CoV acute respiratory syndrome coronavirus. The protein is organized into four distinct domains: a C-terminal carbohydrate recognition domain, a flexible tandem-repeat neck domain of variable length, a transmembrane region and an N-terminal cytoplasmic domain involved in internalization. This gene is closely related in terms of both sequence and function to a neighboring gene, CD209 (Gene ID: 30835), also known as DC-SIGN. The two genes differ in viral recognition and expression patterns, with this gene showing high expression in endothelial cells of the liver, lymph node and placenta. Polymorphisms in the tandem repeat neck domain are associated with resistance to SARS infection. [provided by RefSeq, May 2020]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 542, "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": "A6NKI4;A8K8B3;Q69F40;Q969M4;Q96QP3;Q96QP4;Q96QP5;Q96QP6;Q9BXS3;Q9H2Q9;Q9H8F0;Q9Y2A8", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0048306 calcium-dependent protein binding;GO:0042605 peptide antigen binding;GO:0030246 carbohydrate binding;GO:0001618 virus receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043657 host cell", "go_biological_process": "GO:0006955 immune response;GO:0035556 intracellular signal transduction;GO:0045087 innate immune response;GO:0075733 intracellular transport of virus;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9H2X3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100010000.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3H3-2", "uniprot_id": [ { "id": "CK068_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3H3", "type": "external" } ], "mass": 31430.0, "length": 292, "protein_name": "UPF0696 protein C11orf68", "gene_name": "C11orf68", "organism": "Human", "refseq_name": "UPF0696 protein C11orf68 isoform 1", "refseq_ac": [ { "id": "NP_001129107", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129107", "type": "external" } ], "gene_names_uniprotkb": "C11orf68; BLES03", "gene_names_refseq": "BLES03; C11orf68; P5326", "protein_names_uniprotkb": "UPF0696 protein C11orf68; Basophilic leukemia-expressed protein Bles03; Protein p5326", "protein_names_refseq": "UPF0696 protein C11orf68 isoform 1; UPF0696 protein C11orf68; basophilic leukemia expressed protein BLES03; basophilic leukemia-expressed protein Bles03; protein p5326", "tax_id": 9606, "disease": "", "pathway": " (hsa:83638)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "16511166;17850744;20068231;24129315;28218747;28228285;28832583;29242379;29508533;29557506;30429286;31844290;31848261;32157095;32357974;32387766;32938616;33298915;33392160;33968037;35051231;35580925;36010968;36284347;38665916", "class_list": "", "function": "Crystal structure of the human basophilic leukemia-expressed protein (BLES03, p5326, Hs.433573) was determined by single-wavelength anomalous diffraction and refined to an R factor of 18.8% (Rfree = 24.5%) at 2.5 A resolution, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "J3KQG9;Q9BT13", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9H3H3-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8K7-1", "uniprot_id": [ { "id": "PAAT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8K7", "type": "external" } ], "mass": 49249.0, "length": 445, "protein_name": "ATPase PAAT", "gene_name": "PAAT", "organism": "Human", "refseq_name": "ATPase PAAT", "refseq_ac": [ { "id": "NP_079218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079218", "type": "external" } ], "gene_names_uniprotkb": "PAAT; C10orf88", "gene_names_refseq": "C10orf88; PAAT", "protein_names_uniprotkb": "ATPase PAAT; 3.6.1.-; PAAT; Protein associated with ABC transporters", "protein_names_refseq": "ATPase PAAT; protein associated with ABC transporters; uncharacterized protein C10orf88", "tax_id": 9606, "disease": "", "pathway": " (hsa:80007)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "20418485;23186163;23481700;25063848;25576301;26154972;26375851;26992070;27600516;28228285;28649982;28832583;28834231;28904123;29242379;29493099;29557506;29786170;30315122;30379171;30410026;30429286;30779550;31217245;31844290;32157095;32357974;32488085;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34185709;35051231;35561310;35580925;36010968;36241641;36284347", "class_list": "", "function": "ATPase that regulates mitochondrial ABC transporters ABCB7, ABCB8/MITOSUR and ABCB10 (PubMed:25063848). Regulates mitochondrial ferric concentration and heme biosynthesis and plays a role in the maintenance of mitochondrial homeostasis and cell survival (PubMed:25063848)., [UniProtKB, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Regulates iron transport into the mitochondria, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0P6C6;Q8N597", "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": 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"https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9H8K7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0ZSE6-1", "uniprot_id": [ { 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Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0070160 tight junction", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "C9JDP6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3KRA6-1", "uniprot_id": [ { "id": "CB076_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3KRA6", "type": "external" } ], "mass": 14609.0, "length": 126, "protein_name": "UPF0538 protein C2orf76", "gene_name": "C2orf76", "organism": "Human", "refseq_name": "UPF0538 protein C2orf76 isoform 1", "refseq_ac": [ { "id": "NP_001017927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017927", "type": "external" } ], "gene_names_uniprotkb": "C2orf76", "gene_names_refseq": "AIM29; C2orf76", "protein_names_uniprotkb": "UPF0538 protein C2orf76", "protein_names_refseq": "UPF0538 protein C2orf76 isoform 1; UPF0538 protein C2orf76", "tax_id": 9606, "disease": "", "pathway": " (hsa:130355)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;20205591;31844290;33912179;33936100", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[J Infect Dis. 2010 Aug 15;202(3):501], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B7ZLS8;Q4VC35", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q3KRA6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UX34-1", "uniprot_id": [ { "id": "SNORC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UX34", "type": "external" } ], "mass": 12073.0, "length": 121, "protein_name": "Protein SNORC", "gene_name": "SNORC", "organism": "Human", "refseq_name": "protein SNORC isoform c precursor", "refseq_ac": [ { "id": "NP_001333051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333051", "type": "external" } ], "gene_names_uniprotkb": "SNORC; C2orf82; PRO1757", "gene_names_refseq": "ASCL830; C2orf82; SNORC; UNQ830", "protein_names_uniprotkb": "Protein SNORC; Secondary ossification center-associated regulator of chondrocyte maturation protein", "protein_names_refseq": "Small Novel Rich in Cartilage; protein SNORC isoform c precursor; protein SNORC; secondary ossification center-associated regulator of chondrocyte maturation protein; uncharacterized protein C2orf82", "tax_id": 9606, "disease": "", "pathway": " (hsa:389084)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;12975309;21624478;31582733", "class_list": "", "function": "Attention-deficit/hyperactivity disorder (ADHD) risk alleles correlated with increased expression (and decreased methylation) of ARTN and PIDD1 and with a decreased expression (and increased methylation) of C2orf82. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the regulation of chondrocyte maturation and postnatal endochondral ossification. May inhibit cell growth stimulation induced by FGF2., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0071944 cell periphery", "go_biological_process": "GO:0051216 cartilage development", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6UX34-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "H3BU77-1", "uniprot_id": [ { "id": "CC179_HUMAN", "url": "https://www.uniprot.org/uniprot/H3BU77", "type": "external" } ], "mass": 8104.0, "length": 68, "protein_name": "Coiled-coil domain-containing protein 179", "gene_name": "CCDC179", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 179", "refseq_ac": [ { "id": "NP_001182566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182566", "type": "external" } ], "gene_names_uniprotkb": "CCDC179", "gene_names_refseq": "CCDC179", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 179", "protein_names_refseq": "coiled-coil domain-containing protein 179", "tax_id": 9606, "disease": "", "pathway": " (hsa:100500938)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "H3BU77-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56747-1", "uniprot_id": [ { "id": "CLD6_HUMAN", "url": "https://www.uniprot.org/uniprot/P56747", "type": "external" } ], "mass": 23292.0, "length": 220, "protein_name": "Claudin-6", "gene_name": "CLDN6", "organism": "Human", "refseq_name": "claudin-6", "refseq_ac": [ { "id": "NP_067018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067018", "type": "external" } ], "gene_names_uniprotkb": "CLDN6; PRO1488", "gene_names_refseq": "CLDN6", "protein_names_uniprotkb": "Claudin-6; Skullin", "protein_names_refseq": "claudin-6; skullin", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); left ventricular failure (Disease Ontology:DOID:0051064); hypertension (Disease Ontology:DOID:10763); asthma (Disease Ontology:DOID:2841); cerebral infarction (Disease Ontology:DOID:3526); lung disease (Disease Ontology:DOID:850); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9074); (R-HSA-420029)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10.1074/mcp.M114.046862;11237011;11447115;11964389;12953056;12975309;16129888;16303743;17804490;18083107;19664995;20375010;21406692;23481700;25813380;34087483;37566248;37762277;37852424;39169280", "class_list": "", "function": "(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) entry into hepatic cells., [UniProtKB, PubMed, PubMed]; Binding of YY1/CREB to an Enhancer Region Triggers Claudin 6 Expression in H. pylori LPS-Stimulated AGS Cells. Publication Status: Online-Only, [RefSeq, PubMed]; CLDN6 Suppresses Migration and Invasion of MCF-7 and SKBR-3 Breast Cancer Cells by Blocking the SMAD/Snail/MMP-2/9 Axis., [RefSeq, PubMed]; CLDN6 inhibits breast cancer growth and metastasis through SREBP1-mediated RAS palmitoylation. Publication Status: Online-Only, [RefSeq, PubMed]; CLDN6 inhibits colorectal cancer proliferation dependent on restraining p53 ubiquitination via ZO-1/PTEN axis., [RefSeq, PubMed]; Plays a major role in tight junction-specific obliteration of the intercellular space., [UniProtKB]; 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. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. This gene encodes a component of tight junction strands, which is a member of the claudin family. The protein is an integral membrane protein and is one of the entry cofactors for hepatitis C virus. The gene methylation may be involved in esophageal tumorigenesis. This gene is adjacent to another family member CLDN9 on chromosome 16.[provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KQP9;D3DUA5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity;GO:0001618 virus receptor activity;GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0016327 apicolateral plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0070830 bicellular tight junction assembly;GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P56747-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M243-1", "uniprot_id": [ { "id": "CCD27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M243", "type": "external" } ], "mass": 75354.0, "length": 656, "protein_name": "Coiled-coil domain-containing protein 27", "gene_name": "CCDC27", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 27", "refseq_ac": [ { "id": "NP_689705", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689705", "type": "external" } ], "gene_names_uniprotkb": "CCDC27", "gene_names_refseq": "CCDC27", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 27", "protein_names_refseq": "coiled-coil domain-containing protein 27", "tax_id": 9606, "disease": "", "pathway": " (hsa:148870)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;18597038;28904123;29557506;31217245;32502341;32938616;33912179;34211107;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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TBV3;Q96M50", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q2M243-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58418-3", "uniprot_id": [ { "id": "CLRN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P58418", "type": "external" } ], "mass": 25719.0, "length": 232, "protein_name": "Clarin-1", "gene_name": "CLRN1", "organism": "Human", "refseq_name": "clarin-1 isoform d", "refseq_ac": [ { "id": "NP_001182723", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182723", "type": "external" } ], "gene_names_uniprotkb": "CLRN1; USH3A", "gene_names_refseq": "CLRN1; RP61; USH3A; USH3", "protein_names_uniprotkb": "Clarin-1; Usher syndrome type-3 protein", "protein_names_refseq": "Usher syndrome type-3 protein; clarin-1 isoform d", "tax_id": 9606, "disease": "Usher syndrome (Disease Ontology:DOID:0050439); retinitis pigmentosa 61 (Disease Ontology:DOID:0110373); Usher syndrome type 3 (Disease Ontology:DOID:0110828); Usher syndrome type 3A (Disease Ontology:DOID:0110841); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:7401)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11524702;12080385;12145752;14569126;15521980;18273898;20717163;21310491;23304067;28228285;29557506;31097578;31968401;35481838", "class_list": "", "function": "Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing., [RefSeq, PubMed]; May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina., [UniProtKB, PubMed]; Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort., [RefSeq, PubMed]; Studied role of clarin1 (CLRN1) in activation of hair cell mechanotransduction function through an unconventional secretory pathway, and the possibility this activation may be therapeutic to prevent hair cell dysfunction., [RefSeq, PubMed]; The complexity of the CLRN1 gene and the identification of multiple splice variants may partially explain why mutations in CLRN1 result in substantial variation in clinical phenotype., [RefSeq, PubMed]; This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DNJ3;E1ACU9;Q8N6A9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030027 lamellipodium;GO:0045178 basal part of cell;GO:0015630 microtubule cytoskeleton;GO:0005902 microvillus", "go_biological_process": "GO:0007015 actin filament organization;GO:0007601 visual perception;GO:0045494 photoreceptor cell maintenance;GO:0007605 sensory perception of sound;GO:0048870 cell motility", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P58418-3", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5K130-1", "uniprot_id": [ { "id": "CLU1O_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5K130", "type": "external" } ], "mass": 10963.0, "length": 101, "protein_name": "Putative uncharacterized protein CLLU1-AS1", "gene_name": "CLLU1-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CLLU1-AS1; CLLU1OS", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein CLLU1-AS1; CLLU1 antisense RNA 1; Chronic lymphocytic leukemia up-regulated protein 1 opposite strand transcript protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "16339396;29242379", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "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": "Q5K130-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5RIA9-1", "uniprot_id": [ { "id": "ZNG1E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5RIA9", "type": "external" } ], "mass": 44068.0, "length": 395, "protein_name": "Zinc-regulated GTPase metalloprotein activator 1E", "gene_name": "ZNG1E", "organism": "Human", "refseq_name": "zinc-regulated GTPase metalloprotein activator 1E isoform d", "refseq_ac": [ { "id": "NP_001317597", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317597", "type": "external" } ], "gene_names_uniprotkb": "ZNG1E; CBWD5", "gene_names_refseq": "CBWD3; CBWD5; DC36; ZNG1E", "protein_names_uniprotkb": "Zinc-regulated GTPase metalloprotein activator 1E; 3.6.5.-; COBW domain-containing protein 5; Cobalamin synthase W domain-containing protein 5", "protein_names_refseq": "COBW domain containing 5; COBW domain-containing protein 3; COBW domain-containing protein 5; COBW-like placental protein; Cobalamin synthase W domain-containing protein 3; cobalamin synthase W domain-containing protein 5; cobalamin synthetase W domain-containing protein 5; dopamine responsive protein; zinc-regulated GTPase metalloprotein activator 1E isoform d; zinc-regulated GTPase metalloprotein activator 1E", "tax_id": 9606, "disease": "congenital anomalies of the kidney and urinary tract (Disease Ontology:DOID:0080205)", "pathway": " (hsa:220869)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "35584702", "class_list": "", "function": "Zinc chaperone that directly transfers zinc cofactor to target metalloproteins, thereby activating them. Catalyzes zinc insertion into the active site of methionine aminopeptidase METAP1, which function to cleave the initiator methionine from polypeptides during or after protein translation. Mechanistically, the N-terminal psi-PxLVp motif binds to the C6H2-type zinc finger of inactive form of METAP1. After formation of the docked complex, zinc is transferred from the CXCC motif in the GTPase domain of ZNG1E to the zinc binding site in the peptidase domain of METAP1 in a process requiring GTP hydrolysis. GTP/GDP exchange is required for release of active METAP1., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q8N7U8", "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:0008270 zinc ion binding;GO:0140827 zinc chaperone activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5RIA9-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SYC1-1", "uniprot_id": [ { "id": "CLVS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SYC1", "type": "external" } ], "mass": 38000.0, "length": 327, "protein_name": "Clavesin-2", "gene_name": "CLVS2", "organism": "Human", "refseq_name": "clavesin-2", "refseq_ac": [ { "id": "NP_001010852", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010852", "type": "external" } ], "gene_names_uniprotkb": "CLVS2; C6orf212; C6orf213; RLBP1L2", "gene_names_refseq": "C6orf212; C6orf213; CLVS2; RLBP1L2; bA160A10.4", "protein_names_uniprotkb": "Clavesin-2; Retinaldehyde-binding protein 1-like 2; clathrin vesicle-associated Sec14 protein 2", "protein_names_refseq": "clathrin vesicle-associated Sec14 protein 2; clavesin-2; retinaldehyde binding protein 1-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:134829); (R-HSA-432720)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10394364;10436028;11139587;11333915;11604418;11694590;11994746;16155256;16867982;17116749;19559397;19651769;20230749;20708039;21620353;31844290;8374173;8524399;8670264;9733768", "class_list": "", "function": "Clavesin protein family appears to provide a unique neuron-specific regulation of late endosome/lysosome morphology., [RefSeq, PubMed]; Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)., [UniProtKB, PubMed]; This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KTG5;B4DHL0;C8UZT4;Q5SYC0", "ec_number_list": [], "go_molecular_function": "GO:1902936 phosphatidylinositol bisphosphate binding;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding", "go_cellular_component": "GO:0005768 endosome;GO:0032588 trans-Golgi network membrane;GO:0031901 early endosome membrane;GO:0030136 clathrin-coated vesicle;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0007040 lysosome organization", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q5SYC1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T5M9-1", "uniprot_id": [ { "id": "CCNJ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T5M9", "type": "external" } ], "mass": 42581.0, "length": 372, "protein_name": "Cyclin-J", "gene_name": "CCNJ", "organism": "Human", "refseq_name": "cyclin-J isoform 1", "refseq_ac": [ { "id": "NP_001127847", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127847", "type": "external" } ], "gene_names_uniprotkb": "CCNJ", "gene_names_refseq": "CCNJ; bA690P14.1", "protein_names_uniprotkb": "Cyclin-J", "protein_names_refseq": "cyclin-J isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54619)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "24098452;25672416;26469956;27157613;28202053;28514659;28904123;30315122;31217245;31844290;32157095;32357974;32387766;32938616;35051231;37938771", "class_list": "", "function": "CCNJ is a target of miR205 mediated downregulation in bladder cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; High Cyclin J expression is associated with drug resistance in non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; In conclusion, our results indicated that CCNJ could be a novel prognostic marker of HCC, and this study indicated that triple combination array analysis was effective in detecting new tumor-related genes and their mechanisms., [RefSeq, PubMed]; MiR-125b acts as a tumor suppressor in breast tumorigenesis via its novel direct targets ENPEP, CK2-alpha, CCNJ, and MEGF9. Publication Status: Online-Only, [RefSeq, PubMed]; We identified cyclin J and far upstream element-binding protein 1 (FUBP1) as novel miR-16 targets, which mediate miR-16 antiproliferative effects. Erratum:[Oncogene. 2023 Dec;42(50):3719. doi: 10.1038/s41388-023-02870-9. PMID: 37978227], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B7Z4E7;Q86XL1;Q9NV69", "ec_number_list": [], "go_molecular_function": "GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005815 microtubule organizing center;GO:0000307 cyclin-dependent protein kinase holoenzyme complex", "go_biological_process": "GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q5T5M9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZRK6-1", "uniprot_id": [ { "id": "CCD73_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZRK6", "type": "external" } ], "mass": 124154.0, "length": 1079, "protein_name": "Coiled-coil domain-containing protein 73", "gene_name": "CCDC73", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 73", "refseq_ac": [ { "id": "NP_001008392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008392", "type": "external" } ], "gene_names_uniprotkb": "CCDC73", "gene_names_refseq": "CCDC73; NY-SAR-79", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 73; Sarcoma antigen NY-SAR-79", "protein_names_refseq": "coiled-coil domain-containing protein 73; sarcoma antigen NY-SAR-79", "tax_id": 9606, "disease": "", "pathway": " (hsa:493860)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12601173;17693683;24714562;25892735;28228285;30379171;32488085;35051231;36215666", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 35, "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": "Q6P5Q7;Q6ZMW0;Q86WE7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q6ZRK6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZRV3-1", "uniprot_id": [ { "id": "CC074_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZRV3", "type": "external" } ], "mass": 16900.0, "length": 163, "protein_name": "Putative uncharacterized protein encoded by LINC00696", "gene_name": "LINC00696", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00696; C3orf74", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00696", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "29557506;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6ZRV3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WR0-1", "uniprot_id": [ { "id": "CCD25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WR0", "type": "external" } ], "mass": 24479.0, "length": 208, "protein_name": "Coiled-coil domain-containing protein 25", "gene_name": "CCDC25", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 25 isoform 2", "refseq_ac": [ { "id": "NP_001291458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291458", "type": "external" } ], "gene_names_uniprotkb": "CCDC25", "gene_names_refseq": "CCDC25", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 25", "protein_names_refseq": "coiled-coil domain-containing protein 25 isoform 2; coiled-coil domain-containing protein 25", "tax_id": 9606, "disease": "", "pathway": " (hsa:55246)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;15345747;17081983;18452278;18669648;18767875;19413330;19415658;19608861;19651622;19690332;20068231;20166139;21406692;23271734;23301498;23481700;24275569;24714562;26375851;26728094;27862975;27893789;27920218;28832583;28834231;29242379;29493099;29508533;29557506;29632711;29786170;30429286;31844290;32157095;32350084;32387766;32488085;32502341;32528174;32839429;32897882;32938616;33298915;33592498;33691108;33968037;34067437;34509645;35154160;35561310;36253427;38236371;38418150", "class_list": "", "function": "CCDC25: precise navigator for neutrophil extracellular traps on the prometastatic road. Publication Status: Online-Only, [RefSeq, PubMed]; Coiled-coil domain containing 25 (CCDC25) regulates cell proliferation, migration, and invasion in clear cell renal cell carcinoma by targeting the ILK-NF-kappaB signaling pathway., [RefSeq, PubMed]; DNA of neutrophil extracellular traps promotes cancer metastasis via CCDC25., [RefSeq, PubMed]; Enhanced CHOLESTEROL biosynthesis promotes breast cancer metastasis via modulating CCDC25 expression and neutrophil extracellular traps formation. Erratum:[Sci Rep. 2025 Sep 8;15(1):32383. doi: 10.1038/s41598-025-16659-1. PMID: 40921763] Publication Status: Online-Only, [RefSeq, PubMed]; Kallikrein-11, in Association with Coiled-Coil Domain Containing 25, as a Potential Prognostic Marker for Cholangiocarcinoma with Lymph Node Metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Serum CCDC25 Levels as a Potential Marker for Metabolic Syndrome., [RefSeq, PubMed]; Transmembrane receptor that senses neutrophil extracellular traps (NETs) and triggers the ILK-PARVB pathway to enhance cell motility (PubMed:32528174). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (PubMed:32528174). Formation of NETs is also associated with cancer metastasis, NET-DNA acting as a chemotactic factor to attract cancer cells (PubMed:32528174). Specifically binds NETs on its extracellular region, in particular the 8-OHdG-enriched DNA present in NETs, and recruits ILK, initiating the ILK-PARVB cascade to induce cytoskeleton rearrangement and directional migration of cells (PubMed:32528174). In the context of cancer, promotes cancer metastasis by sensing NETs and promoting migration of tumor cells (PubMed:32528174)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0P663;Q96SI2;Q9NV98", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:2000147 positive regulation of cell motility", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q86WR0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N715-1", "uniprot_id": [ { "id": "CC185_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N715", "type": "external" } ], "mass": 72349.0, "length": 623, "protein_name": "Coiled-coil domain-containing protein 185", "gene_name": "CCDC185", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 185", "refseq_ac": [ { "id": "NP_689823", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689823", "type": "external" } ], "gene_names_uniprotkb": "CCDC185; C1orf65", "gene_names_refseq": "C1orf65; CCDC185", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 185", "protein_names_refseq": "coiled-coil domain-containing protein 185", "tax_id": 9606, "disease": "", "pathway": " (hsa:164127)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "25218447", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8N746;Q8NA93", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8N715-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEL0-1", "uniprot_id": [ { "id": "CCD54_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEL0", "type": "external" } ], "mass": 37886.0, "length": 328, "protein_name": "Coiled-coil domain-containing protein 54", "gene_name": "CCDC54", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 54", "refseq_ac": [ { "id": "NP_115989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115989", "type": "external" } ], "gene_names_uniprotkb": "CCDC54", "gene_names_refseq": "CCDC54; NYD-SP17; SP17", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 54; Testis development protein NYD-SP17", "protein_names_refseq": "coiled-coil domain-containing protein 54; sperm protein 17; testes development-related NYD-SP17; testicular tissue protein Li 33; testis development protein NYD-SP17", "tax_id": 9606, "disease": "", "pathway": " (hsa:84692)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "16138340;19690332;29769354;33968037", "class_list": "", "function": "Data supporting the rationale for further investigations of Sp17 for tumor vaccines in testicular cancer. (review) Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96A43", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NEL0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A33-1", "uniprot_id": [ { "id": "CCD47_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A33", "type": "external" } ], "mass": 55874.0, "length": 483, "protein_name": "PAT complex subunit CCDC47", "gene_name": "CCDC47", "organism": "Human", "refseq_name": "PAT complex subunit CCDC47 isoform 1 precursor", "refseq_ac": [ { "id": "NP_064583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064583", "type": "external" } ], "gene_names_uniprotkb": "CCDC47; GK001; MSTP041; PSEC0077", "gene_names_refseq": "CCDC47; GK001; MSTP041; THNS", "protein_names_uniprotkb": "PAT complex subunit CCDC47; Calumin; Coiled-coil domain-containing protein 47", "protein_names_refseq": "Calumin; PAT complex subunit CCDC47 isoform 1 precursor; PAT complex subunit CCDC47; coiled-coil domain-containing protein 47", "tax_id": 9606, "disease": "trichohepatoneurodevelopmental syndrome (MONDO:MONDO:0032645)", "pathway": " (hsa:57003)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;16303743;23481700;23783831;25009997;25576301;25813380;26154972;26375851;26811146;26992070;27862975;27920218;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;30401460;30429286;31154438;31844290;32157095;32265295;32387766;32488085;32502341;32814900;32820719;32897882;32938616;32983136;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34509645;34932366;35051231;35580925;36215666;36241641;36261522;36284347;37217939;40914422", "class_list": "", "function": "Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32814900, PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522). Within the MPT complex, the PAT subcomplex sequesters any highly polar regions in the transmembrane domains away from the non-polar membrane environment until they can be buried in the interior of the fully assembled protein (By similarity). Within the PAT subcomplex, CCDC47 occludes the lateral gate of the SEC61 complex (By similarity). Involved in the regulation of calcium ion homeostasis in the ER (PubMed:30401460). Required for proper protein degradation via the ERAD (ER-associated degradation) pathway (PubMed:25009997). Has an essential role in the maintenance of ER organization during embryogenesis (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RAS8;D3DU20;Q96D00;Q96JZ7;Q9H3E4;Q9NRG3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005509 calcium ion binding;GO:0043022 ribosome binding;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0030867 rough endoplasmic reticulum membrane;GO:0160064 multi-pass translocon complex", "go_biological_process": "GO:0045048 protein insertion into ER membrane;GO:0001649 osteoblast differentiation;GO:0036503 ERAD pathway;GO:0032469 endoplasmic reticulum calcium ion homeostasis;GO:0160063 multi-pass transmembrane protein insertion into ER membrane", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q96A33-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96B33-1", "uniprot_id": [ { "id": "CLD23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96B33", "type": "external" } ], "mass": 31915.0, "length": 292, "protein_name": "Claudin-23", "gene_name": "CLDN23", "organism": "Human", "refseq_name": "claudin-23", "refseq_ac": [ { "id": "NP_919260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_919260", "type": "external" } ], "gene_names_uniprotkb": "CLDN23", "gene_names_refseq": "CLDN23; CLDNL; hCG1646163", "protein_names_uniprotkb": "Claudin-23", "protein_names_refseq": "2310014B08Rik; claudin-23", "tax_id": 9606, "disease": "atopic dermatitis (Disease Ontology:DOID:3310)", "pathway": " (hsa:137075); (R-HSA-420029)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "11447115;11964389;12736707;12953056;16129888;18083107;18154640;20166139;25695204;28350854;29557506;30014629;32938616;32983136;35051231;35580925;37798277", "class_list": "", "function": "Characterization of CLDN23 gene, a candidate tumor suppressor gene implicated in intestinal-type gastric cancer GeneRIF: Human CLDN23, showing 79.5% total-amino-acid identity with mouse Cldn23, is a four-transmembrane protein with WWCC motif, defined by W-X(17-22)-W-X(2)-C-X(8-10)-C., [RefSeq, PubMed]; Claudin-23 facilitates the migration ability of colorectal cancer cells and may participate in the metastasis of colorectal cancer, [RefSeq, PubMed]; Claudin-23 reshapes epithelial tight junction architecture to regulate barrier function. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity., [UniProtKB]; The expression of claudin-11, -23 was remarkably downregulated in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The present study demonstrated an epigenetic link between the activity of the EZH2 methyltransferase at the CLDN23 locus and the expression of CLDN23 in CRC tissue., [RefSeq, PubMed]; This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is expressed in germinal center B-cells, placenta and stomach as well as in colon tumor. This gene is down-regulated in intestinal type gastric cancer. [provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "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": "Q08AJ3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q96B33-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MF4-1", "uniprot_id": [ { "id": "CC140_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MF4", "type": "external" } ], "mass": 18252.0, "length": 163, "protein_name": "Coiled-coil domain-containing protein 140", "gene_name": "CCDC140", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CCDC140", "gene_names_refseq": "", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 140", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q96MF4-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NS8-1", "uniprot_id": [ { "id": "CLUP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NS8", "type": "external" } ], "mass": 16687.0, "length": 147, "protein_name": "Putative protein CLUHP3", "gene_name": "CLUHP3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CLUHP3; C16orf67; KIAA0664L3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein CLUHP3; Clustered mitochondria (cluA/CLU1) homolog pseudogene 3; KIAA0664-like protein 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BW88", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q96NS8-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P1Z9-2", "uniprot_id": [ { "id": "CC180_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P1Z9", "type": "external" } ], "mass": 197344.0, "length": 1701, "protein_name": "Coiled-coil domain-containing protein 180", "gene_name": "CCDC180", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 180 isoform 1", "refseq_ac": [ { "id": "NP_065944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065944", "type": "external" } ], "gene_names_uniprotkb": "CCDC180; C9orf174; KIAA1529", "gene_names_refseq": "C9orf174; CCDC180; CFAP76; FAP76", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 180", "protein_names_refseq": "Behcet's Disease Associated Gene 1; coiled-coil domain-containing protein 180 isoform 1; coiled-coil domain-containing protein 180", "tax_id": 9606, "disease": "", "pathway": " (hsa:100499483)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "30790560", "class_list": "", "function": "High CCDC180 expression is associated with Liposarcoma ., [RefSeq, PubMed]; The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet's Disease (PMID: 19442274). [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2KHR6;Q5VV25;Q68DP5;Q69YV9;Q6AHY0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9P1Z9-2", "record_type": "protein", "filter_code": "0000000.0000101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y696-1", "uniprot_id": [ { "id": "CLIC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y696", "type": "external" } ], "mass": 28772.0, "length": 253, "protein_name": "Chloride intracellular channel protein 4", "gene_name": "CLIC4", "organism": "Human", "refseq_name": "chloride intracellular channel protein 4", "refseq_ac": [ { "id": "NP_039234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_039234", "type": "external" } ], "gene_names_uniprotkb": "CLIC4", "gene_names_refseq": "CLIC4L; CLIC4; H1; MTCLIC; huH1; p64H1", "protein_names_uniprotkb": "Chloride intracellular channel protein 4; 1.8.-.-; Glutaredoxin-like oxidoreductase CLIC4; Intracellular chloride ion channel protein p64H1", "protein_names_refseq": "chloride intracellular channel 4 like; chloride intracellular channel protein 4; epididymis secretory sperm binding protein; glutaredoxin-like oxidoreductase CLIC4; intracellular chloride ion channel protein p64H1", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:25932)", "pathway_count": 1, "publication_count": 99, "publication_id_list": "10070163;10191309;10793131;11230166;12163372;12163479;14569596;16176272;16239224;16581025;17074750;17200346;17636002;18302930;18446792;19247789;19608861;21136679;21406692;22223895;22424782;23481700;24366607;24714562;24715725;25576301;25581026;25645385;25802875;26154972;26992070;27543614;27600516;27846572;27862975;27920218;28228285;28510447;28649982;28832583;28860189;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29786170;30237421;30315122;30429286;30484775;30524438;30779550;31222486;31530632;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33717175;33936100;33968037;34019948;34087483;34229054;34357683;34509645;35051231;35494241;35580925;36010968;36215666;36241641;36284347;37026609;37317855;37759794;37938771;38390782;38665916;38727794;39029565", "class_list": "", "function": "CLIC4 Function in the Epithelial-Mesenchymal Transition of Epithelial Odontogenic Lesions. Publication Status: Online-Only, [RefSeq, PubMed]; CLIC4 Regulates Endothelial Barrier Control by Mediating PAR1 Signaling via RhoA., [RefSeq, PubMed]; Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq, Jul 2008]., [RefSeq]; Chloride intracellular channel 4 participates in the regulation of lipopolysaccharide-induced inflammatory responses in human bronchial epithelial cells., [RefSeq, PubMed]; In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor (PubMed:25581026, PubMed:37759794). Can insert into membranes and form voltage-dependent multi-ion conductive channels. Membrane insertion seems to be redox-regulated and may occur only under oxidizing conditions (By similarity) (PubMed:16176272). Has alternate cellular functions like a potential role in angiogenesis or in maintaining apical-basolateral membrane polarity during mitosis and cytokinesis. Could also promote endothelial cell proliferation and regulate endothelial morphogenesis (tubulogenesis). Promotes cell-surface expression of HRH3., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; RNA-binding protein DND1 participates in migration, invasion, and EMT of prostate cancer cells by degrading CLIC4., [RefSeq, PubMed]; The stromal immunoexpression of CLIC4 may be related to the difference in the biological behavior between oral squamous cell carcinoma and oral verrucous carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q9UFW9;Q9UQJ6", "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:0016491 oxidoreductase activity;GO:0005254 chloride channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0030154 cell differentiation;GO:0030336 negative regulation of cell migration;GO:0030216 keratinocyte differentiation;GO:0071277 cellular response to calcium ion;GO:0006821 chloride transport", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q9Y696-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0A0MT69-1", "uniprot_id": [ { "id": "A0A0A0MT69_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0A0MT69", "type": "external" } ], "mass": 1249.0, "length": 12, "protein_name": "Immunoglobulin kappa joining 4", "gene_name": "IGKJ4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKJ4", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa joining 4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A0A0MT69-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0A6YYJ7-1", "uniprot_id": [ { "id": "TVA83_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0A6YYJ7", "type": "external" } ], "mass": 12676.0, "length": 113, "protein_name": "T cell receptor alpha variable 8-3", "gene_name": "TRAV8-3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAV8-3", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 8-3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;35580925", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A0A6YYJ7-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQP3-1", "uniprot_id": [ { "id": "TENN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQP3", "type": "external" } ], "mass": 144034.0, "length": 1299, "protein_name": "Tenascin-N", "gene_name": "TNN", "organism": "Human", "refseq_name": "tenascin-N precursor", "refseq_ac": [ { "id": "NP_071376", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071376", "type": "external" } ], "gene_names_uniprotkb": "TNN; TNW", "gene_names_refseq": "TN-W; TNN; TNW", "protein_names_uniprotkb": "Tenascin-N; TN-N; TN-W; Tenascin-W", "protein_names_refseq": "TN-N; tenascin-N precursor; tenascin-W", "tax_id": 9606, "disease": "", "pathway": " (hsa:63923); (R-HSA-3000178)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10022829;10339611;10673326;11084047;11237011;11259413;12225811;1376317;14715956;15075323;15296743;1544908;15592496;16293224;16335952;16493581;17588949;17909022;18306355;19664994;19884327;2059554;21642437;21789315;22134916;2364322;2412224;2420006;2430969;24366607;24715725;25880248;26154972;28629900;29391424;29557506;29671580;29741879;30459171;32357974;33603752;33692777;33912179;33968037;35051231;35371015;36206596;37074911;6193777;6439184;7499434;7527058;7542669;7559467;7685013;7693733;7852349;8002934;8440685;8798654;8943283;9252349;9294172;9341124;9346959;9685393;9949188", "class_list": "", "function": "Data imply that tenascin-W expression in the activated tumor stroma facilitates tumorigenesis by supporting the migratory behavior of breast cancer cells, [RefSeq, PubMed]; Extracellular matrix protein that seems to be a ligand for ITGA8:ITGB1, ITGAV:ITGB1 and ITGA4:ITGB1 (By similarity) (PubMed:17909022). Involved in neurite outgrowth and cell migration in hippocampal explants (By similarity). During endochondral bone formation, inhibits proliferation and differentiation of proteoblasts mediated by canonical WNT signaling (By similarity). In tumors, stimulates angiogenesis by elongation, migration and sprouting of endothelial cells (PubMed:19884327). Expressed in most mammary tumors, may facilitate tumorigenesis by supporting the migratory behavior of breast cancer cells (PubMed:17909022)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Extracellular matrix protein that seems to be a ligand for ITGA8:ITGB1, ITGAV:ITGB1 and ITGA4:ITGB1. Involved in neurite outgrowth and cell migration in hippocampal explants. During endochondral bone formation, inhibits proliferation and differentiation of proteoblasts mediated by canonical WNT signaling. In tumors, stimulates angiogenesis by elongation, migration and sprouting of endothelial cells. Expressed in most mammary tumors, may facilitate tumorigenesis by supporting the migratory behavior of breast cancer cells., [UniProtKB, UniProtKB]; Results reveal a clear association between elevated levels of tenascin-W and the presence of colorectal cancer and breast cancer, [RefSeq, PubMed]; Specific association of NR1I3, C6 and TNN with low hip BMD risk, [RefSeq, PubMed]; TNN is first linked to auditory neuropathy., [RefSeq, PubMed]; Tenascin-C can Serve as an Indicator for the Immunosuppressive Microenvironment of Diffuse Low-Grade Gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; Tenascin-W Is a Novel Stromal Marker in Biliary Tract Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Tenascin-W: Discovery, Evolution, and Future Prospects. Publication Status: Online-Only, [RefSeq, PubMed]; The expression of tenascin-W is dependent on p38MAPK and JNK signaling pathways in mammary tumors. (tenascin-W), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 75, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 15, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A6YY94;B9EGP3;Q5R360", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0009986 cell surface;GO:0031012 extracellular matrix;GO:0043025 neuronal cell body;GO:1990026 hippocampal mossy fiber expansion", "go_biological_process": "GO:1903672 positive regulation of sprouting angiogenesis;GO:1903010 regulation of bone development;GO:0010976 positive regulation of neuron projection development;GO:0030155 regulation of cell adhesion;GO:0007160 cell-matrix adhesion", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9UQP3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75603-1", "uniprot_id": [ { "id": "GCM2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75603", "type": "external" } ], "mass": 56610.0, "length": 506, "protein_name": "Chorion-specific transcription factor GCMb", "gene_name": "GCM2", "organism": "Human", "refseq_name": "chorion-specific transcription factor GCMb", "refseq_ac": [ { "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743", "type": "external" } ], "gene_names_uniprotkb": "GCM2; GCMB", "gene_names_refseq": "FIH2; GCM2; GCMB; HRPT4; hGCMb", "protein_names_uniprotkb": "Chorion-specific transcription factor GCMb; GCM motif protein 2; Glial cells missing homolog 2; hGCMb", "protein_names_refseq": "GCM motif protein 2; chorion-specific transcription factor GCMb; glial cells missing 2; glial cells missing homolog 2; glial cells missing homolog b; glial cells missing transcription factor 2; glide/gcm protein homolog", "tax_id": 9606, "disease": "familial isolated hypoparathyroidism 2 (Disease Ontology:DOID:0061151); hypoparathyroidism (Disease Ontology:DOID:11199); hyperparathyroidism (Disease Ontology:DOID:13543); infertility (Disease Ontology:DOID:5223); hyperparathyroidism 4 (MONDO:MONDO:0024570)", "pathway": " (hsa:9247)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10343099;15657585;15728199;15863676;20190276;20463099;21642377;23155703;27745835;28609842;29557506;33536578;34077544;34967908;35038313;35051231;38130397;9928992", "class_list": "", "function": "Five patients with disorders of calcium metabolism presented with GCM2 gene variants. Publication Status: Online-Only, [RefSeq, PubMed]; GCM2 Silencing in Parathyroid Adenoma Is Associated With Promoter Hypermethylation and Gain of Methylation on Histone 3., [RefSeq, PubMed]; GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism., [RefSeq, PubMed]; GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism. Publication Status: Online-Only, [RefSeq, PubMed]; Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders. Publication Status: Online-Only, [RefSeq, PubMed]; The glial cell missing gene, GCMB , encodes a transcription factor, which is a master regulator of parathyroid development. GCMB expression is upregulated in abnormal parathyroid glands of hyperparathyroidism and decreases in response to hypocalcemia., [RefSeq, PubMed]; This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3GDV6;Q5THN5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;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:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0060017 parathyroid gland development;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006874 intracellular calcium ion homeostasis;GO:0006366 transcription by RNA polymerase II;GO:0042063 gliogenesis", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "O75603-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15056-1", "uniprot_id": [ { "id": "IF4H_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15056", "type": "external" } ], "mass": 27385.0, "length": 248, "protein_name": "Eukaryotic translation initiation factor 4H", "gene_name": "EIF4H", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 4H isoform 1", "refseq_ac": [ { "id": "NP_071496", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071496", "type": "external" } ], "gene_names_uniprotkb": "EIF4H; KIAA0038; WBSCR1; WSCR1", "gene_names_refseq": "EIF4H; WBSCR1; WSCR1; eIF-4H", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 4H; Williams-Beuren syndrome chromosomal region 1 protein; eIF-4H", "protein_names_refseq": "Williams-Beuren syndrome chromosome region 1; eukaryotic translation initiation factor 4H isoform 1", "tax_id": 9606, "disease": "Williams-Beuren syndrome (Disease Ontology:DOID:1928)", "pathway": " (hsa:7458); (R-HSA-156827); (R-HSA-72649); (R-HSA-72662); (R-HSA-72702); (R-HSA-72706)", "pathway_count": 6, "publication_count": 130, "publication_id_list": "10364207;10585411;10659855;1095581;11003705;11018020;11237011;11418588;12588972;12665801;14567916;15592455;16014927;16094384;17287340;18083107;18212344;1856230;18707149;19651622;19690332;20068231;20112406;21406692;22223895;23186163;24129315;24366607;24397554;24714562;24715725;25418920;25469497;25502872;25505266;25576301;25645385;25810538;25880248;26154972;26375851;26811146;26929215;26992070;27397612;27600516;27846572;27920218;28351305;28411811;28657654;28832583;28904123;291969;29242379;29393594;29493099;29508533;29557506;29632046;29786170;30315122;30379171;30429286;30620550;30779550;30833945;31023341;31154438;31217245;31373491;31530632;31611695;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33130397;33141586;33214551;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34185709;34229054;34357683;34433824;34561969;34932366;35051231;35154160;35251023;35318648;35580925;36241641;36284347;37938771;38665916;40596516;429297;592398;592399;641056;6853548;7000367;7935836;8449919;8812460;8943342;9045610;9516461;9732867;9857202", "class_list": "", "function": "EIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated amyotrophic lateral sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; RNA binding motif protein 10 suppresses lung cancer progression by controlling alternative splicing of eukaryotic translation initiation factor 4H., [RefSeq, PubMed]; Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; The results from these procedures revealed eIF4H to be one of the targets of miR-519d. Downregulated eIF4H was analogous to the overexpressed miR-519d obtained from miR-519d agomir and si-eIF4H transfection. In summary, it can be concluded that miR-519d targets eIF4H in lung adenocarcinoma to inhibit cell proliferation and invasion, [RefSeq, PubMed]; This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 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": 11, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K3R1;D3DXF6;D3DXF8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0008135 translation factor activity, RNA binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0016281 eukaryotic translation initiation factor 4F complex", "go_biological_process": "GO:0006446 regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "Q15056-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P270-1", "uniprot_id": [ { "id": "SLAI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P270", "type": "external" } ], "mass": 62543.0, "length": 581, "protein_name": "SLAIN motif-containing protein 2", "gene_name": "SLAIN2", "organism": "Human", "refseq_name": "SLAIN motif-containing protein 2", "refseq_ac": [ { "id": "NP_065897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065897", "type": "external" } ], "gene_names_uniprotkb": "SLAIN2; KIAA1458", "gene_names_refseq": "KIAA1458; SLAIN2", "protein_names_uniprotkb": "SLAIN motif-containing protein 2", "protein_names_refseq": "SLAIN motif family member 2; SLAIN motif-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57606)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11237011;16964243;17081983;18452278;18669648;19413330;19651622;19664994;19664995;19690332;20056178;20068231;21646404;23186163;23301498;23481700;24129315;24275569;24715725;25576301;25810538;26154972;26992070;27600516;27846572;27939686;28218747;28832583;29242379;29437277;29493099;29557506;30315122;30379171;31217245;31492838;31844290;32157095;32350084;32387766;32502341;32938616;32983136;33141586;33298915;33717175;33936100;33968037;34019948;34171305;34561969;35051231;36010968;36284347;38665916;40307207;40596516", "class_list": "", "function": "Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Promotes cytoplasmic microtubule nucleation and elongation. Required for normal structure of the microtubule cytoskeleton during interphase., [UniProtKB, PubMed]; Catastrophe inhibition by SLAIN2 and CLASP1 supports mesenchymal cell shape in soft 3D matrices by enabling microtubules to perform a load-bearing function., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Results identify SLAIN2 as a key component of microtubule plus end interaction networks., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 30, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K4P1;Q8N5R3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0036064 ciliary basal body;GO:0097542 ciliary tip", "go_biological_process": "GO:0007020 microtubule nucleation;GO:0031116 positive regulation of microtubule polymerization;GO:0031122 cytoplasmic microtubule organization", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9P270-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09017-1", "uniprot_id": [ { "id": "HXC4_HUMAN", "url": "https://www.uniprot.org/uniprot/P09017", "type": "external" } ], "mass": 29811.0, "length": 264, "protein_name": "Homeobox protein Hox-C4", "gene_name": "HOXC4", "organism": "Human", "refseq_name": "homeobox protein Hox-C4", "refseq_ac": [ { "id": "NP_055435", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055435", "type": "external" } ], "gene_names_uniprotkb": "HOXC4; HOX3E", "gene_names_refseq": "HOX3E; HOX3; HOXC4; cp19", "protein_names_uniprotkb": "Homeobox protein Hox-C4; Homeobox protein CP19; Homeobox protein Hox-3E", "protein_names_refseq": "homeo box 3E; homeobox protein CP19; homeobox protein Hox-3E; homeobox protein Hox-C4", "tax_id": 9606, "disease": "leukemia (Disease Ontology:DOID:1240)", "pathway": " (hsa:3221); (R-HSA-5617472)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10777502;11857506;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;24714562;25101834;25135475;2570724;2576652;25880248;25892735;25913784;26375851;26758079;26992070;27846572;27920218;28063628;28514659;28904123;2898768;29393594;29557506;29632046;29769354;30315122;30429286;31154438;31217245;31844290;32157095;32265295;32977722;33691108;33717175;33912179;35561310;36284347;36433874;38990159;7488013;7501971;7831296;7906964;7908827;8674428;8759021;9218805;9272954;9482740", "class_list": "", "function": "A likely HOXC4 predisposition variant for Chiari malformations. Publication Status: Online-Only, [RefSeq, PubMed]; HOXC4 promotes proliferation of pancreatic cancer cells by increasing LDHA-mediated glycolysis., [RefSeq, PubMed]; Homeobox C4 promotes hepatocellular carcinoma progression by the transactivation of Snail., [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, HOXC4, 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 that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0071837 HMG box domain binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0009952 anterior/posterior pattern specification;GO:0048704 embryonic skeletal system morphogenesis", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "P09017-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AA8-1", "uniprot_id": [ { "id": "JKIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AA8", "type": "external" } ], "mass": 94934.0, "length": 810, "protein_name": "Janus kinase and microtubule-interacting protein 2", "gene_name": "JAKMIP2", "organism": "Human", "refseq_name": "janus kinase and microtubule-interacting protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001257863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257863", "type": "external" } ], "gene_names_uniprotkb": "JAKMIP2; JAMIP2; KIAA0555; NECC1", "gene_names_refseq": "JAKMIP2; JAMIP2; NECC1", "protein_names_uniprotkb": "Janus kinase and microtubule-interacting protein 2; CTCL tumor antigen HD-CL-04; Neuroendocrine long coiled-coil protein 1", "protein_names_refseq": "CTCL tumor antigen HD-CL-04; Jak and microtubule interacting protein 2; janus kinase and microtubule-interacting protein 2 isoform 2; neuroendocrine long coiled-coil protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9832)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "14996095;15277531;16959974;17572408;23481700;29242379;29557506;30796769;31154438;31844290;32157095;32387766;32897882;32938616;33592498;33691108;33968037;34087483;35051231;35580925;36010968;36215666", "class_list": "", "function": "Individuals with SNP62 (rs12653715 G/C) who were GG homozygous had a significantly increased risk of Graves' disease. The transmission disequilibrium test (TDT) indicated that SNP62 (rs12653715) and SNP63 (rs12653081) loci in the Janus kinase and microtubule interacting protein 2 (JAKMIP2) gene showed dominant transmission from heterozygous parents to the affected offspring. Publication Status: Online-Only, [RefSeq, PubMed]; NECC 1 & 2 proteins primarily expressed in (neuro)endocrine tissues in vertebrates thus supporting a role for these proteins in the regulated secretory pathway., [RefSeq, PubMed]; The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4ZZA7;A8K5G5;B4DSG0;G5E9Y0;O60302;Q548S1", "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": 2.3, "record_id": "Q96AA8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A096LNW5-1", "uniprot_id": [ { "id": "NT2NR_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A096LNW5", "type": "external" } ], "mass": 30058.0, "length": 274, "protein_name": "Notch homolog 2 N-terminal-like protein R", "gene_name": "NOTCH2NLR", "organism": "Human", "refseq_name": "notch 2 N-terminal like R precursor", "refseq_ac": [ { "id": "NP_001383001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001383001", "type": "external" } ], "gene_names_uniprotkb": "NOTCH2NLR", "gene_names_refseq": "NOTCH2NLD; NOTCH2NLR", "protein_names_uniprotkb": "Notch homolog 2 N-terminal-like protein R; NOTCH2NL-related", "protein_names_refseq": "notch 2 N-terminal like R (pseudogene); notch 2 N-terminal like R precursor; notch homolog 2 N-terminal-like-related", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155); neurodegenerative disease (Disease Ontology:DOID:1289); brain cancer (Disease Ontology:DOID:1319); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); adenocarcinoma (Disease Ontology:DOID:299); central nervous system cancer (Disease Ontology:DOID:3620); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:101929796)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;29856954;29856955;31844290", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0048731 system development;GO:0009967 positive regulation of signal transduction;GO:0048513 animal organ development", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A0A096LNW5-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0B4J244-1", "uniprot_id": [ { "id": "TVA3_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0B4J244", "type": "external" } ], "mass": 12614.0, "length": 114, "protein_name": "T cell receptor alpha variable 3", "gene_name": "TRAV3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAV3", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;31844290;35580925", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A0A0B4J244-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0B4J274-1", "uniprot_id": [ { "id": "TVA20_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0B4J274", "type": "external" } ], "mass": 12682.0, "length": 112, "protein_name": "T cell receptor alpha variable 20", "gene_name": "TRAV20", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAV20", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 20", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;27568928", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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Publication Status: Online-Only, [RefSeq, PubMed]; LINC01207 was highly expressed in pancreatic cancer. Functionally, LINC01207 can bind to miR-143. Its silencing down-regulated the expression of AGR2 by up-regulating miR-143. 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Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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Mutation of this locus in mouse causes tremors and spastic movements, suggesting a role for this gene in neurological development or function. 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(HuGE Navigator), [RefSeq, PubMed, PubMed]; Produced by macrophages, IFN-alpha have antiviral activities. 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Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A075B6Y3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6Z9-1", "uniprot_id": [ { "id": "A0A075B6Z9_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6Z9", "type": "external" } ], "mass": 2238.0, "length": 21, "protein_name": "T cell receptor alpha joining 24", "gene_name": "TRAJ24", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAJ24", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 24", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A075B6Z9-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75541-1", "uniprot_id": [ { "id": "ZN821_HUMAN", "url": "https://www.uniprot.org/uniprot/O75541", "type": "external" } ], "mass": 46794.0, "length": 412, "protein_name": "Zinc finger protein 821", "gene_name": "ZNF821", "organism": "Human", "refseq_name": "zinc finger protein 821 isoform 3", "refseq_ac": [ { "id": "NP_001188485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188485", "type": "external" } ], "gene_names_uniprotkb": "ZNF821", "gene_names_refseq": "ZNF821", "protein_names_uniprotkb": "Zinc finger protein 821", "protein_names_refseq": "zinc finger protein 821 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:55565)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;26791533;28228285;28832583;29242379;30379171;33912179;33968037;35051231", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein with two C2H2 zinc finger motifs and a score-and-three (23)-amino acid peptide repeat (STPR) domain. The STPR domain of the encoded protein binds to double stranded DNA and may also contain a nuclear localization signal, suggesting that this protein interacts with chromosomal DNA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NK48;B4DKK4;D3DWS3", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0016607 nuclear speck", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "O75541-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43405-1", "uniprot_id": [ { "id": "COCH_HUMAN", "url": "https://www.uniprot.org/uniprot/O43405", "type": "external" } ], "mass": 59483.0, "length": 550, "protein_name": "Cochlin", "gene_name": "COCH", "organism": "Human", "refseq_name": "cochlin isoform b precursor", "refseq_ac": [ { "id": "NP_001128530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530", "type": "external" } ], "gene_names_uniprotkb": "COCH; COCH5B2; PRO294", "gene_names_refseq": "COCH-5B2; COCH5B2; COCH; DFNA9; DFNB110", "protein_names_uniprotkb": "Cochlin; COCH-5B2", "protein_names_refseq": "coagulation factor C homolog, cochlin (Limulus polyphemus); cochlin isoform b precursor", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 9 (Disease Ontology:DOID:0110593); occipital horn syndrome (Disease Ontology:DOID:0111272); autosomal recessive nonsyndromic deafness 110 (Disease Ontology:DOID:0111644); spinal muscular atrophy (Disease Ontology:DOID:12377); Menkes disease (Disease Ontology:DOID:1838); renal adenoma (Disease Ontology:DOID:2697); breast carcinoma (Disease Ontology:DOID:3459); liver carcinoma (Disease Ontology:DOID:686); Wilson disease (Disease Ontology:DOID:893); metal metabolism disorder (Disease Ontology:DOID:896)", "pathway": " (hsa:1690)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10400989;11237011;11295836;11574466;12843317;12928864;12975309;14512963;16835921;17561763;17926100;18312449;21886777;22610276;22931125;23090970;23584533;23993205;24190977;24714562;25388789;25502872;25576301;26728094;26992070;27090790;27452731;27846572;28467828;28904123;29449721;29557506;30315122;30573663;30626607;31217245;31844290;32350084;32502341;32897882;32983136;33912179;33936100;34019948;34171305;34357683;34433824;35020687;35051231;35154160;35204720;35251023;35561310;36010968;36717952;37074911;37709329;38167558;9441737;9806553;9931344", "class_list": "", "function": "Does Vestibulo-Ocular Reflex (VOR) Gain Correlate With Radiological Findings in the Semi-Circular Canals in Patients Carrying the p.Pro51Ser (P51S) COCH Variant Causing DFNA9? Relationship Between the Three-Dimensional Video Head Impulse Test (vHIT) and MR/CT Imaging., [RefSeq, PubMed]; Evaluation of hearing levels and vestibular function and the impact on cognitive performance in (pre)-symptomatic patients with DFNA9: protocol for a prospective longitudinal study (Rosetta study). Publication Status: Online-Only, [RefSeq, PubMed]; Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibiting KCNMA1-AS1 promotes osteogenic differentiation of HBMSCs via miR-1303/cochlin axis. Publication Status: Online-Only, [RefSeq, PubMed]; Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the control of cell shape and motility in the trabecular meshwork., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 10, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K9K9;D3DS84;Q96IU6", "ec_number_list": [], "go_molecular_function": "GO:0005518 collagen binding", "go_cellular_component": "GO:0031012 extracellular matrix;GO:0005576 extracellular region", "go_biological_process": "GO:0007605 sensory perception of sound;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O43405-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29017-1", "uniprot_id": [ { "id": "CD1C_HUMAN", "url": "https://www.uniprot.org/uniprot/P29017", "type": "external" } ], "mass": 37654.0, "length": 333, "protein_name": "T-cell surface glycoprotein CD1c", "gene_name": "CD1C", "organism": "Human", "refseq_name": "T-cell surface glycoprotein CD1c precursor", "refseq_ac": [ { "id": "NP_001756", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001756", "type": "external" } ], "gene_names_uniprotkb": "CD1C", "gene_names_refseq": "BDCA1; CD1C; CD1; R7", "protein_names_uniprotkb": "T-cell surface glycoprotein CD1c", "protein_names_refseq": "CD1C antigen, c polypeptide; T-cell surface glycoprotein CD1c precursor; T-cell surface glycoprotein CD1c; cortical thymocyte antigen CD1C", "tax_id": 9606, "disease": "", "pathway": " (hsa:911); (R-HSA-198933)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "10488738;10499918;10746781;10786796;10890914;10899914;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19349973;19359216;19592130;20730098;21167756;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24190977;24305946;2447586;25703557;25716998;26284469;26300885;2701945;29557506;29632711;3097645;31530632;32357974;33043033;33384157;33691108;34536421;35051231;35580925;36284347;36755259;38099311;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "Animal models for human group 1 CD1 protein function. Review article, [RefSeq, PubMed]; Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; CD1C is associated with breast cancer prognosis and immune infiltrates. Publication Status: Online-Only, [RefSeq, PubMed]; Identifying CD1c as a potential biomarker by the comprehensive exploration of tumor mutational burden and immune infiltration in diffuse large B cell lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Rational design of a hydrolysis-resistant mycobacterial phosphoglycolipid antigen presented by CD1c to T cells., [RefSeq, PubMed]; This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q5TDJ7;Q6IAS4;Q9UMM0;Q9UN96", "ec_number_list": [], "go_molecular_function": "GO:0030883 endogenous lipid antigen binding;GO:0030884 exogenous lipid antigen binding;GO:0071723 lipopeptide binding;GO:0051861 glycolipid binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005764 lysosome;GO:0009897 external side of plasma membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:0048007 antigen processing and presentation, exogenous lipid antigen via MHC class Ib;GO:0002286 T cell activation involved in immune response", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P29017-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M2Z5-1", "uniprot_id": [ { "id": "KIZ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M2Z5", "type": "external" } ], "mass": 75111.0, "length": 673, "protein_name": "Centrosomal protein kizuna", "gene_name": "KIZ", "organism": "Human", "refseq_name": "centrosomal protein kizuna isoform 2", "refseq_ac": [ { "id": "NP_001156494", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156494", "type": "external" } ], "gene_names_uniprotkb": "KIZ; C20orf19; HT013; NCRNA00153; PLK1S1", "gene_names_refseq": "C20orf19; HT013; KIZ; Kizuna; NCRNA00153; PLK1S1; RP69", "protein_names_uniprotkb": "Centrosomal protein kizuna; Polo-like kinase 1 substrate 1", "protein_names_refseq": "centrosomal protein kizuna isoform 2; centrosomal protein kizuna; polo-like kinase 1 substrate 1", "tax_id": 9606, "disease": "retinitis pigmentosa 69 (Disease Ontology:DOID:0110410)", "pathway": " (hsa:55857)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10931946;11237011;16980960;17081983;18669648;19536135;24680887;24715725;25558830;25576301;26992070;28649982;28832583;28834231;28904123;29242379;29393594;31844290;32052671;32387766;32897882;32938616;32983136;33000253;33298915;33592498;33912179;33968037;35494241;35580925;36284347;38927740", "class_list": "", "function": "Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation. Required for stabilizing the expanded pericentriolar material around the centriole., [UniProtKB, PubMed]; Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; Immunohistology revealed KIZ localization at the basal body of the cilia in human fibroblasts, thus shedding light on another ciliary protein implicated in autosomal-recessive RCD, [RefSeq, PubMed]; Long noncoding RNA PLK1S1 was associated with renal cell carcinoma progression by interacting with microRNA653 and altering CXC chemokine receptor 5 expression., [RefSeq, PubMed]; Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa., [RefSeq, PubMed]; The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 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": "B4DDE9;B4DK54;Q4G0M8;Q4G0S5;Q5BKY3;Q6P0M6;Q71ME0;Q9NZ35", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0007051 spindle organization", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q2M2Z5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UD4-1", "uniprot_id": [ { "id": "ZN329_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UD4", "type": "external" } ], "mass": 61725.0, "length": 541, "protein_name": "Zinc finger protein 329", "gene_name": "ZNF329", "organism": "Human", "refseq_name": "zinc finger protein 329", "refseq_ac": [ { "id": "NP_078896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078896", "type": "external" } ], "gene_names_uniprotkb": "ZNF329", "gene_names_refseq": "ZNF329", "protein_names_uniprotkb": "Zinc finger protein 329", "protein_names_refseq": "zinc finger protein 329", "tax_id": 9606, "disease": "", "pathway": " (hsa:79673)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;27556418;28228285", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; TYROBP influences a batch of genes that are related to Alzheimer's disease; ZNF329 and RB1 significantly regulate those 'mesenchymal' gene expression signature genes for brain tumors. By merely leveraging gene expression data, Context Based Dependency Network (CBDN) can efficiently infer the existence of gene-gene interactions as well as their regulatory directions. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KR32;Q9H9R7", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q86UD4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95995-1", "uniprot_id": [ { "id": "DRC4_HUMAN", "url": "https://www.uniprot.org/uniprot/O95995", "type": "external" } ], "mass": 56356.0, "length": 478, "protein_name": "Dynein regulatory complex subunit 4", "gene_name": "DRC4", "organism": "Human", "refseq_name": "dynein regulatory complex subunit 4 isoform b", "refseq_ac": [ { "id": "NP_001273134", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273134", "type": "external" } ], "gene_names_uniprotkb": "DRC4; GAS11; GAS8", "gene_names_refseq": "CILD33; DRC4; GAS11; GAS8", "protein_names_uniprotkb": "Dynein regulatory complex subunit 4; GAS-11; GAS-8; Growth arrest-specific protein 11; Growth arrest-specific protein 8", "protein_names_refseq": "GAS-11; dynein regulatory complex subunit 4 isoform b; epididymis secretory sperm binding protein; growth arrest specific 8; growth arrest-specific protein 11; growth arrest-specific protein 8", "tax_id": 9606, "disease": "primary ciliary dyskinesia 33 (Disease Ontology:DOID:0110619)", "pathway": " (hsa:2622); (R-HSA-5635838)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10966113;10969087;11237011;14614827;14636583;15618519;15691767;16136078;16630821;16643277;16908539;17641202;17960137;18497258;18815277;19196978;19218434;19365551;19948480;20844016;21356043;21659505;21695114;22277298;22981989;22986504;23026747;23481700;23719536;23877428;24582806;24715725;24845016;24925320;25645385;26387594;27120127;27472056;27600516;27846572;27920218;29242379;29393594;29557506;29632046;29786170;30524438;30833945;31154438;31530632;31844290;32157095;32357974;32387766;32488085;32938616;33141586;33298915;33592498;33942556;33968037;34087483;34169321;34211107;34509645;35051231;39894887;9790751", "class_list": "", "function": "Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker (By similarity). Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning (PubMed:26387594, PubMed:27120127, PubMed:27472056). Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by facilitating the trafficking of SMO into the cilium and the stimulation of SMO activity in a GRK2-dependent manner (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]; LncRNA GAS8-AS1 downregulates lncRNA NEAT1 to inhibit glioblastoma cell proliferation., [RefSeq, PubMed]; This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RCT1;B7Z4U1;G3V1L5;Q2M234", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005794 Golgi apparatus;GO:0005874 microtubule;GO:0005886 plasma membrane;GO:0005929 cilium", "go_biological_process": "GO:0045880 positive regulation of smoothened signaling pathway;GO:0060294 cilium movement involved in cell motility;GO:0008285 negative regulation of cell population proliferation;GO:0030317 flagellated sperm motility;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "O95995-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54849-1", "uniprot_id": [ { "id": "EMP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P54849", "type": "external" } ], "mass": 17563.0, "length": 157, "protein_name": "Epithelial membrane protein 1", "gene_name": "EMP1", "organism": "Human", "refseq_name": "epithelial membrane protein 1", "refseq_ac": [ { "id": "NP_001414", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001414", "type": "external" } ], "gene_names_uniprotkb": "EMP1; B4B; TMP", "gene_names_refseq": "CL-20; EMP-1; EMP1; TMP", "protein_names_uniprotkb": "Epithelial membrane protein 1; CL-20; EMP-1; Protein B4B; Tumor-associated membrane protein", "protein_names_refseq": "epithelial membrane protein 1; tumor-associated membrane protein", "tax_id": 9606, "disease": "polycystic liver disease (Disease Ontology:DOID:0050770); polycystic kidney disease (Disease Ontology:DOID:0080322); polycystic kidney disease 1 (Disease Ontology:DOID:0110858); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); intracranial aneurysm (Disease Ontology:DOID:10941); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:2012)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1101/2023.09.13.557529;11237011;25576301;32897882;32938616;35432717;35850179;36708070;37437228;38743077;8683158;8996089;9066625;9126480", "class_list": "", "function": "EMP1 correlated with cancer progression and immune characteristics in pan-cancer and ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Epithelial Membrane Protein 1 Promotes Sensitivity to RSL3-Induced Ferroptosis and Intensifies Gefitinib Resistance in Head and Neck Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of EMP1 as a critical gene for cisplatin resistance in ovarian cancer by using integrated bioinformatics analysis., [RefSeq, PubMed]; Key Molecules in Bladder Cancer Affect Patient Prognosis and Immunotherapy Efficacy: Further Exploration for CNTN1 and EMP1., [RefSeq, PubMed]; Loss of EMP1 promotes the metastasis of human bladder cancer cells by promoting migration and conferring resistance to ferroptosis through activation of PPAR gamma signaling., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R5N1;B4DRR1;O00681;Q13481;Q13834", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006915 apoptotic process;GO:0008544 epidermis development;GO:0032060 bleb assembly", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P54849-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53621-1", "uniprot_id": [ { "id": "COPA_HUMAN", "url": "https://www.uniprot.org/uniprot/P53621", "type": "external" } ], "mass": 138346.0, "length": 1224, "protein_name": "Coatomer subunit alpha", "gene_name": "COPA", "organism": "Human", "refseq_name": "coatomer subunit alpha isoform 1", "refseq_ac": [ { "id": "NP_001091868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091868", "type": "external" } ], "gene_names_uniprotkb": "COPA", "gene_names_refseq": "AIAISD1; AIAISD; AILJK; COPA; HEP-COP; alpha-COP", "protein_names_uniprotkb": "Coatomer subunit alpha; Alpha-COP; Alpha-coat protein; HEP-COP; HEPCOP; Xenopsin-related peptide", "protein_names_refseq": "COPI coat complex subunit alpha; alpha coat protein; coatomer protein complex subunit alpha; coatomer subunit alpha isoform 1; proxenin; xenin", "tax_id": 9606, "disease": "autoimmune interstitial lung, joint, and kidney disease (Disease Ontology:DOID:0081242); combined oxidative phosphorylation deficiency 33 (Disease Ontology:DOID:0111495)", "pathway": " (hsa:1314); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 3, "publication_count": 273, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11172815;11237011;11285137;11306556;11461920;11466336;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12388752;12634853;1429581;14504276;14654841;14742712;15029241;15037235;15272311;15302935;15592455;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16408927;16571679;16633337;16723730;1680566;16912714;16926190;16940185;16964243;17081983;17113389;17253781;17274799;17322306;17360540;17429068;17451557;17760859;17924679;17927562;17956946;18086915;18182008;18283113;18287528;18524849;18578522;18669648;18691976;18767875;18809720;1898986;18991276;19007248;19015319;19109418;19151722;19164740;19296914;19369418;19413330;19415658;1957170;19631211;19651622;19664994;19664995;19690332;19691289;19758564;20005805;20058876;20068231;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21406692;21550981;21689688;21835166;21844168;22013193;22094269;22304919;22424782;22544926;22645359;23186163;23396477;23481700;23839779;24029068;24119662;24129315;24275569;24366607;24397554;24714562;24715725;24806965;25129144;25364732;25418920;25436559;25469497;25492864;25576301;25645385;25802875;25880248;25892735;25894502;26154972;26375851;26768311;26992070;27397612;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28411811;28514659;28832583;28834231;28860189;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29774024;29786170;29789417;30315122;30352685;30397120;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34433824;34509645;34561969;34725712;34932366;35051231;35083852;35136165;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37217939;37938771;38175705;38665916;40596516;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8647451;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9365789;9380700;9382863;9405360;9490716;9533652;9671725;9751720;9990005", "class_list": "", "function": "An extended motif in the SARS-CoV-2 spike modulates binding and release of host coatomer in retrograde trafficking. Publication Status: Online-Only, [RefSeq, PubMed]; Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoin fl ammatory syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Xenin stimulates exocrine pancreatic secretion. It inhibits pentagastrin-stimulated secretion of acid, to induce exocrine pancreatic secretion and to affect small and large intestinal motility. In the gut, xenin interacts with the neurotensin receptor., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5T201;Q8IXZ9", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0005198 structural molecule activity;GO:0005179 hormone activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0030157 pancreatic juice secretion;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0006891 intra-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 28.3, "record_id": "P53621-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WW32-1", "uniprot_id": [ { "id": "HMGB4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WW32", "type": "external" } ], "mass": 22490.0, "length": 186, "protein_name": "High mobility group protein B4", "gene_name": "HMGB4", "organism": "Human", "refseq_name": "high mobility group protein B4 isoform 1", "refseq_ac": [ { "id": "NP_660206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660206", "type": "external" } ], "gene_names_uniprotkb": "HMGB4", "gene_names_refseq": "HMGB4; dJ1007G16.5", "protein_names_uniprotkb": "High mobility group protein B4", "protein_names_refseq": "HMG2 like; high mobility group protein B4 isoform 1; high mobility group protein B4", "tax_id": 9606, "disease": "", "pathway": " (hsa:127540)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "20970119", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4X7;Q0QWA4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005694 chromosome", "go_biological_process": "GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8WW32-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01638-1", "uniprot_id": [ { "id": "ILRL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01638", "type": "external" } ], "mass": 63358.0, "length": 556, "protein_name": "Interleukin-1 receptor-like 1", "gene_name": "IL1RL1", "organism": "Human", "refseq_name": "interleukin-1 receptor-like 1 isoform 3", "refseq_ac": [ { "id": "NP_001269337", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269337", "type": "external" } ], "gene_names_uniprotkb": "IL1RL1; DER4; ST2; T1", "gene_names_refseq": "DER4; FIT-1; IL1RL1; IL33R; ST2L; ST2V; ST2; T1", "protein_names_uniprotkb": "Interleukin-1 receptor-like 1; 3.2.2.6; Protein ST2", "protein_names_refseq": "homolog of mouse growth stimulation-expressed; interleukin 1 receptor-related protein; interleukin-1 receptor-like 1 isoform 3; suppressor of tumorigenicity 2", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); obstructive sleep apnea (Disease Ontology:DOID:0050848); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); acute asthma (Disease Ontology:DOID:0080810); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); Hantavirus hemorrhagic fever with renal syndrome (Disease Ontology:DOID:11266); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); paracoccidioidomycosis (Disease Ontology:DOID:12662); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); pulmonary hypertension (Disease Ontology:DOID:6432); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); acute myocardial infarction (Disease Ontology:DOID:9408); allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:9173); (R-HSA-1257604); (R-HSA-6811558); (R-HSA-9014843)", "pathway_count": 4, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;10191262;10527832;10936050;11147812;11237011;11478810;11803464;12167717;12767043;1325671;14759258;1482686;15340161;15718470;16286016;16456541;17200115;18925875;19508382;19576174;19805105;19836339;20338997;21827948;23090970;23319592;23980170;24190977;29242379;29391424;29557506;30784271;32350084;33968037;35051231;35238669;35251023;36010968;37442582;37643244;38172258;38566447;38858740;7637810;7744773;8645157;9736715;9895304", "class_list": "", "function": "A type 1 immunity-restricted promoter of the IL-33 receptor gene directs antiviral T-cell responses., [RefSeq, PubMed]; IL-33-ST2 signaling promotes stemness in subtypes of myeloid leukemia cells through the Wnt and Notch pathways., [RefSeq, PubMed]; Inhibits IL-33 signaling., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Oxidised IL-33 drives COPD epithelial pathogenesis via ST2-independent RAGE/EGFR signalling complex. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for interleukin-33 (IL-33) which plays crucial roles in innate and adaptive immunity, contributing to tissue homeostasis and responses to environmental stresses together with coreceptor IL1RAP (PubMed:35238669). Its stimulation recruits MYD88, IRAK1, IRAK4, and TRAF6, followed by phosphorylation of MAPK3/ERK1 and/or MAPK1/ERK2, MAPK14, and MAPK8. Possibly involved in helper T-cell function (Probable) (PubMed:16286016). Upon tissue injury, induces UCP2-dependent mitochondrial rewiring that attenuates the generation of reactive oxygen species and preserves the integrity of Krebs cycle required for persistent production of itaconate and subsequent GATA3-dependent differentiation of inflammation-resolving alternatively activated macrophages (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; ST2 and IL-33 polymorphisms and the development of childhood asthma: a prospective birth cohort study in Finnish children., [RefSeq, PubMed]; The IL-33-ST2 axis plays a vital role in endometriosis via promoting epithelial-mesenchymal transition by phosphorylating beta-catenin. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 7, "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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 11, "disease_count": 16, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K6B3;B4E0I3;Q53TU7;Q8NEJ3;Q9ULV7;Q9UQ44", "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": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "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": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "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" } ], "go_molecular_function": "GO:0002113 interleukin-33 binding;GO:0002114 interleukin-33 receptor activity;GO:0004908 interleukin-1 receptor activity;GO:0061809 NAD+ nucleosidase activity, cyclic ADP-ribose generating;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0032754 positive regulation of interleukin-5 production;GO:0043032 positive regulation of macrophage activation;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q01638-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13416-1", "uniprot_id": [ { "id": "ORC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13416", "type": "external" } ], "mass": 65972.0, "length": 577, "protein_name": "Origin recognition complex subunit 2", "gene_name": "ORC2", "organism": "Human", "refseq_name": "origin recognition complex subunit 2", "refseq_ac": [ { "id": "NP_006181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006181", "type": "external" } ], "gene_names_uniprotkb": "ORC2; ORC2L", "gene_names_refseq": "ORC2L; ORC2", "protein_names_uniprotkb": "Origin recognition complex subunit 2", "protein_names_refseq": "origin recognition complex protein 2 homolog; origin recognition complex subunit 2; origin recognition complex, subunit 2 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:4999); (R-HSA-113507); (R-HSA-176187); (R-HSA-68616); (R-HSA-68689); (R-HSA-68867); (R-HSA-68949); (R-HSA-68962)", "pathway_count": 8, "publication_count": 167, "publication_id_list": "10051570;10373362;10373557;10518787;10523313;10757793;10777662;10827953;10846177;10859164;10882098;10884341;11095689;11125146;11237011;11248027;11390642;11562349;11739726;11931757;12045100;12399544;12578958;12676583;12676925;12759351;12791985;12909626;12963847;14500360;14603323;14605214;14624239;14672932;15190204;15226314;15684404;15707391;15707891;15743907;15833913;16327781;16407120;16549788;16762929;16824194;17081983;17234884;17485488;17680271;17716973;18452278;18480045;18669648;19413330;19664995;19896182;20068231;21555516;21947279;22334659;22398447;22405012;22427655;22544926;22645314;22751019;22935713;23186163;23187890;23481700;23603117;23795651;23851460;24003239;24366607;24715725;24732362;24989122;25231993;25576301;25689043;25762138;25784553;26139588;26222030;26375851;26992070;27249176;27846572;27920218;28112645;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29437277;29508533;29557506;29632711;29786170;29899147;30315122;30379171;30429286;30524438;30779550;30833945;31092671;31103262;31217245;31222486;31530632;31844290;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32808929;32848132;32897882;32938616;32983136;32989049;33141586;33298899;33298915;33537174;33592498;33691108;33717175;33801762;33912179;33936100;33968037;34087483;34131285;34171305;34185709;34405274;34509645;34561969;35051231;35580925;36010968;36240223;36241641;36581221;39534244;40596516;40914422;7502077;8196638;8808289;8943031;9278511;9278512;9635433;9660782", "class_list": "", "function": "A human cancer cell line initiates DNA replication normally in the absence of ORC5 and ORC2 proteins., [RefSeq, PubMed]; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K20me3 and H4K27me3. Stabilizes LRWD1, by protecting it from ubiquitin-mediated proteasomal degradation. Also stabilizes ORC3., [UniProtKB, PubMed, PubMed]; The circ_ORC2 binds with miR-19a and enhances its expression, thereby inhibiting downstream PTEN expression and activating Akt pathway to promote osteosarcoma cell growth and invasion., [RefSeq, PubMed]; The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3, -4, and -5. It also interacts with CDC45 and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. Alternatively spliced transcript variants have been found, one of which is a nonsense-mediated mRNA decay candidate. [provided by RefSeq, Oct 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q13204;Q53TX5", "ec_number_list": [], "go_molecular_function": "GO:0003688 DNA replication origin binding", "go_cellular_component": "GO:0000939 inner kinetochore;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0016020 membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006270 DNA replication initiation", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "Q13416-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UMS4-1", "uniprot_id": [ { "id": "PRP19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UMS4", "type": "external" } ], "mass": 55181.0, "length": 504, "protein_name": "Pre-mRNA-processing factor 19", "gene_name": "PRPF19", "organism": "Human", "refseq_name": "pre-mRNA-processing factor 19", "refseq_ac": [ { "id": "NP_055317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055317", "type": "external" } ], "gene_names_uniprotkb": "PRPF19; NMP200; PRP19; SNEV", "gene_names_refseq": "NMP200; PRP19; PRPF19; PSO4; SNEV; UBOX4; hPSO4", "protein_names_uniprotkb": "Pre-mRNA-processing factor 19; 2.3.2.27; Nuclear matrix protein 200; PRP19/PSO4 homolog; RING-type E3 ubiquitin transferase PRP19; Senescence evasion factor; hPso4", "protein_names_refseq": "PRP19/PSO4 homolog; PRP19/PSO4 pre-mRNA processing factor 19 homolog; RING-type E3 ubiquitin transferase PRP19; nuclear matrix protein 200; nuclear matrix protein NMP200 related to splicing factor PRP19; pre-mRNA-processing factor 19; psoralen 4; senescence evasion factor", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888)", "pathway": " (hsa:27339); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 272, "publication_id_list": "10404385;10882114;10944529;11014198;11082287;11101529;11233976;11237011;11435423;11747608;11904382;11991638;12176931;12208738;12411573;12414731;12429849;12477934;12660172;12732143;12960389;14517266;14519844;14625303;14713954;14762106;15084397;15590680;15660529;16223718;16246722;16314458;16332694;16388800;16751180;16809785;17000769;17095540;17290000;17332742;17349974;17466625;17466626;17606899;17948053;17981804;18079701;18263876;18322460;18452278;18593880;18614043;18669648;19103666;19165350;19188445;19279666;19536130;19608861;19641227;19940136;20068231;20112406;20176811;20227374;20423332;20541997;20595234;20980672;21070792;21136679;21282463;21536652;21536736;2176635;21911577;22009320;22081108;22110043;22118460;22121020;22223895;22365833;22466610;22466611;22466612;22645359;22661428;22869377;22902626;22959432;22961380;23022480;23222130;23236153;23301498;23345524;23481700;23906714;23973375;24127601;24196718;24304693;24332808;24366607;24402227;24448447;24715725;24718257;24737827;24914973;24958902;25154395;25418920;25435140;25555158;25576301;2558966;25645385;25810538;26024233;26092250;26154972;26375851;26385511;26420826;26758079;26811146;26929215;26969736;26992070;27108190;27377154;27397612;27459055;27600516;27683217;27846572;27862975;27920218;28062851;28076346;28218747;28228285;28352266;28502770;28510447;28649982;28781166;28832583;28834231;28904123;28962858;29242379;29301961;29351928;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29605689;29632046;29632711;2963332;29786170;29902443;30315122;30315277;30410026;30429286;30484775;30524438;30599162;30705154;30728453;30765414;30779550;30975767;31154438;31217245;31409651;31844290;31848261;31937595;31998317;32119511;32157095;32179686;32329775;32350084;32355176;32387766;32488085;32494006;32502341;32522876;32897882;32938616;32983136;33141586;33177556;33214551;33243851;33298915;33446560;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34301950;34405274;34509645;34561969;34725712;34822310;34932366;35008409;35051231;35083852;35138101;35215846;35251023;35289036;35318648;35385551;35561310;35580925;36010968;36215666;36229594;36241641;36284347;37217939;3757028;37938771;38022515;38472668;38665916;39302247;39531497;39534244;40596516;40914422;7700386;8078911;8566756;8608946;8876179;9016565;9242493;9326587;9512519;9524131;9539711;9671485;9699634;9701291;9716411;9731529;9875289", "class_list": "", "function": "Comprehensive analysis of PRPF19 immune infiltrates, DNA methylation, senescence-associated secretory phenotype and ceRNA network in bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; PRPF19 mRNA Encodes a Small Open Reading Frame That Is Important for Viability of Human Cells., [RefSeq, PubMed]; Ubiquitin-protein ligase which is a core component of several complexes mainly involved pre-mRNA splicing and DNA repair. Required for pre-mRNA splicing as component of the spliceosome (PubMed:28076346, PubMed:28502770, PubMed:29301961, PubMed:29360106, PubMed:30705154). Core component of the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome and participates in its assembly, its remodeling and is required for its activity. During assembly of the spliceosome, mediates 'Lys-63'-linked polyubiquitination of the U4 spliceosomal protein PRPF3. Ubiquitination of PRPF3 allows its recognition by the U5 component PRPF8 and stabilizes the U4/U5/U6 tri-snRNP spliceosomal complex (PubMed:20595234). Recruited to RNA polymerase II C-terminal domain (CTD) and the pre-mRNA, it may also couple the transcriptional and spliceosomal machineries (PubMed:21536736). The XAB2 complex, which contains PRPF19, is also involved in pre-mRNA splicing, transcription and transcription-coupled repair (PubMed:17981804). Beside its role in pre-mRNA splicing PRPF19, as part of the PRP19-CDC5L complex, plays a role in the DNA damage response/DDR. It is recruited to the sites of DNA damage by the RPA complex where PRPF19 directly ubiquitinates RPA1 and RPA2. 'Lys-63'-linked polyubiquitination of the RPA complex allows the recruitment of the ATR-ATRIP complex and the activation of ATR, a master regulator of the DNA damage response (PubMed:24332808). May also play a role in DNA double-strand break (DSB) repair by recruiting the repair factor SETMAR to altered DNA (PubMed:18263876). As part of the PSO4 complex may also be involved in the DNA interstrand cross-links/ICLs repair process (PubMed:16223718). In addition, may also mediate 'Lys-48'-linked polyubiquitination of substrates and play a role in proteasomal degradation (PubMed:11435423). May play a role in the biogenesis of lipid droplets (By similarity). May play a role in neural differentiation possibly through its function as part of the spliceosome (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Ubiquitin-protein ligase which is mainly involved pre-mRNA splicing and DNA repair. Required for pre-mRNA splicing as component of the spliceosome., [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": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "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": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity;GO:0034450 ubiquitin-ubiquitin ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005819 spindle", "go_biological_process": "GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0006303 double-strand break repair via nonhomologous end joining;GO:0008104 intracellular protein localization;GO:0010498 proteasomal protein catabolic process;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 28.2, "record_id": "Q9UMS4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06681-1", "uniprot_id": [ { "id": "CO2_HUMAN", "url": "https://www.uniprot.org/uniprot/P06681", "type": "external" } ], "mass": 83268.0, "length": 752, "protein_name": "Complement C2", "gene_name": "C2", "organism": "Human", "refseq_name": "complement C2 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_000054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000054", "type": "external" } ], "gene_names_uniprotkb": "C2", "gene_names_refseq": "ARMD14; C2; CO2", "protein_names_uniprotkb": "Complement C2; C3/C5 convertase", "protein_names_refseq": "C3/C5 convertase; complement C2 isoform 1 preproprotein; complement component 2; complement component C2", "tax_id": 9606, "disease": "complement component 2 deficiency (Disease Ontology:DOID:0060295); polycystic kidney disease (Disease Ontology:DOID:0080322); age related macular degeneration 14 (Disease Ontology:DOID:0110026); Alzheimer's disease (Disease Ontology:DOID:10652); anterior uveitis (Disease Ontology:DOID:1407); macular degeneration (Disease Ontology:DOID:4448); retinal degeneration (Disease Ontology:DOID:8466); psoriasis (Disease Ontology:DOID:8893); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:717); (R-HSA-166663); (R-HSA-174577); (R-HSA-977606)", "pathway_count": 4, "publication_count": 121, "publication_id_list": "10531307;1067618;10734221;10925294;11237011;11527969;11694537;11939578;12055245;12396008;12878586;1386357;14280442;14561755;15199963;16079145;16169853;16192651;16335952;16518403;16999828;17027507;17182573;17234210;17505110;17989688;18204047;19159218;19237749;21788512;22691502;22802338;23090970;23487775;2420889;2465906;2466593;2481448;2493504;25892735;27252379;27862975;293688;293746;29391424;2949737;29557506;2956252;29649283;29671580;2971659;29741879;29786170;2997031;301546;31154438;31844290;31848261;32065623;32157095;32488085;32938616;32983136;33043033;33968037;34899688;35051231;35318648;35494241;35580925;36010968;36127336;36194249;36284347;3643061;37074911;3848661;3874204;39814882;39914456;4098172;417728;6019133;6149575;6199794;6214588;6219696;6222381;6230668;6238120;6282646;6319179;6334079;6454142;6555044;6602833;6607952;6611150;670886;6906228;6922702;702059;70787;7391570;7391573;7542572;760802;761607;7690834;7691959;8326124;8345200;8495193;8538770;8621452;8786315;9038722;9171898;9422791;9670930;978134", "class_list": "", "function": "Catalytic component of the complement C3 and C5 convertase complexes (PubMed:12878586, PubMed:17027507, PubMed:18204047, PubMed:6906228). Following complement activation, recruited to the surface of pathogens by complement C4b opsonin to form the C3 convertase, or C3b and C4b opsonins to form the C5 convertase (PubMed:6611150, PubMed:6906228). As part of the C3 convertase, cleaves and activate C3 into C3a anaphylatoxin and C3b opsonin, the next components of the complement pathways (PubMed:14561755, PubMed:17027507). As part of the C5 convertase, cleaves and activate C5 into C5a anaphylatoxin and C5b component of the membrane attack complex (PubMed:12878586, PubMed:17027507, PubMed:18204047)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Catalytic component of the complement C3 and C5 convertase complexes. Following complement activation, recruited to the surface of pathogens by complement C4b opsonin to form the C3 convertase, or C3b and C4b opsonins to form the C5 convertase. As part of the C3 convertase, cleaves and activate C3 into C3a anaphylatoxin and C3b opsonin, the next components of the complement pathways. As part of the C5 convertase, cleaves and activate C5 into C5a anaphylatoxin and C5b component of the membrane attack complex., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]., [RefSeq]; Gain-of-Function Mutations R249C and S250C in Complement C2 Protein Increase C3 Deposition in the Presence of C-Reactive Protein. Publication Status: Online-Only, [RefSeq, PubMed]; Precursor of the catalytic component of the C3 and C5 convertase complexes, which are part of the complement pathway, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. Component C2 is part of the classical, lectin and GZMK complement systems., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Proteomic analysis of diabetes genetic risk scores identifies complement C2 and neuropilin-2 as predictors of type 2 diabetes: the Atherosclerosis Risk in Communities (ARIC) Study., [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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 56, "disease_count": 9, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B4DPF3;B4DV20;E9PFN7;O19694;Q13904", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0046872 metal ion binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0009986 cell surface;GO:0070062 extracellular exosome;GO:0106139 symbiont cell surface", "go_biological_process": "GO:0006508 proteolysis;GO:0009617 response to bacterium;GO:0006958 complement activation, classical pathway;GO:0006956 complement activation;GO:2000427 positive regulation of apoptotic cell clearance", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "P06681-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07955-1", "uniprot_id": [ { "id": "SRSF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07955", "type": "external" } ], "mass": 27745.0, "length": 248, "protein_name": "Serine/arginine-rich splicing factor 1", "gene_name": "SRSF1", "organism": "Human", "refseq_name": "serine/arginine-rich splicing factor 1 isoform 2", "refseq_ac": [ { "id": "NP_001071634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071634", "type": "external" } ], "gene_names_uniprotkb": "SRSF1; ASF; SF2P33; SF2; SFRS1; SW-cl.3", "gene_names_refseq": "ASF; NEDFBA; SF2p33; SF2; SFRS1; SRSF1; SRp30a", "protein_names_uniprotkb": "Serine/arginine-rich splicing factor 1; ASF-1; Alternative-splicing factor 1; Splicing factor, arginine/serine-rich 1; pre-mRNA-splicing factor SF2, P33 subunit", "protein_names_refseq": "SR splicing factor 1; alternative-splicing factor 1; pre-mRNA-splicing factor SF2, P33 subunit; serine/arginine-rich splicing factor 1 isoform 2; serine/arginine-rich splicing factor 1; splicing factor 2; splicing factor, arginine/serine-rich, 30-KD, A", "tax_id": 9606, "disease": "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (Disease Ontology:DOID:0070513); stomach cancer (Disease Ontology:DOID:10534); renovascular hypertension (Disease Ontology:DOID:1591); colon cancer (Disease Ontology:DOID:219); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); myocardial infarction (Disease Ontology:DOID:5844); myositis (Disease Ontology:DOID:633); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic myeloid leukemia (Disease Ontology:DOID:8552); myeloid leukemia (Disease Ontology:DOID:8692); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991)", "pathway": " (hsa:6426); (R-HSA-159236); (R-HSA-72163); (R-HSA-72165); (R-HSA-72187); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 8, "publication_count": 282, "publication_id_list": "10207048;10228171;10323864;10489353;10668806;10669729;10757789;10882114;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11333026;11579093;11607023;11739738;11747608;11756420;11979277;11991638;12093754;12176931;12215544;12411573;12414731;12477934;12667464;12871933;14519844;14555757;14625303;14713954;14749727;14762106;15037765;15084397;15565158;15592455;1577277;15798186;15998806;16314397;16314458;16809785;16959974;17000901;17081983;17095540;17128255;17190602;17287340;17322306;17332742;1741384;17606899;17924679;17940139;17984224;18155240;18216018;18288197;1830244;18322460;18342604;18364396;18411249;18423201;1855257;18593880;18658135;18669648;18687337;18707149;18767875;18957205;19052544;19103666;19165350;19217410;19415658;19477182;19536130;19561594;19608861;19651622;19664995;19836239;19886675;20068230;20068231;20129943;20139984;20166139;20308322;20423332;20573985;20695905;20844015;20980672;21295486;21296756;21406692;21536652;2176635;21911577;21947206;22110043;22121020;22207203;22365833;22393468;22813749;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23301498;23345524;23604122;23826332;23874216;24076191;24129315;24149845;24196718;24244187;24275569;24304693;24316715;24407421;24448447;24449914;24644279;24737827;24914973;24981863;2524422;25301780;25301781;25418920;25555158;25576301;2558966;25645385;25662211;25755297;25836925;26092250;26375851;26385511;26420826;26929215;26969736;26992070;27108190;27377154;27459055;27510544;27683217;27846572;28062851;28076346;28096519;28228285;28502770;28510447;28514659;28781166;28832583;28834231;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29493099;29557506;2963332;29786170;29902443;30139799;30257008;30315122;30315277;30320932;30429286;30444036;30599162;30705154;30728453;30765414;30975767;31154438;31217245;31222486;31409651;31844290;31848261;32119511;32157095;32179686;32265295;32329775;32350084;32357974;32387766;32453427;32488085;32494006;32522876;32816001;32870666;33177556;33214551;33243851;33446560;33537174;33592498;33633747;34019948;34171305;34301950;34725712;34822310;34932366;35051231;35138101;35154160;35177536;35215846;35251023;35385551;35561310;35580925;36010968;36241641;37071997;37217939;3757028;37595559;37938771;38665916;39023093;40914422;7512732;7543047;8139654;8223481;8261509;8352591;8566756;8608946;8835860;9016565;9237760;9242493;9409616;9420331;9512519;9524131;9539711;9618489;9659921;9660949;9671485;9671816;9701291;9731229;9731529;9885563", "class_list": "", "function": "Multiple post-transcriptional and translational mechanisms are involved in fine-tuning the expression of SF2/ASF., [RefSeq, PubMed]; Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5'-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5'-RGAAGAAC-3' (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5'-CGAGGCG-3' motif in vitro. Three copies of the octamer constitute a powerful splicing enhancer in vitro, the ASF/SF2 splicing enhancer (ASE) which can specifically activate ASE-dependent splicing. Isoform ASF-2 and isoform ASF-3 act as splicing repressors. May function as export adapter involved in mRNA nuclear export through the TAP/NXF1 pathway., [UniProtKB, PubMed, PubMed]; The U1-70K and SRSF1 interaction is modulated by phosphorylation during the early stages of spliceosome assembly., [RefSeq, PubMed]; This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6Z7;D3DTZ3;Q13809", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0044547 DNA topoisomerase binding;GO:0050733 RS domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0048255 mRNA stabilization;GO:0034504 protein localization to nucleus;GO:0043484 regulation of RNA splicing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 28.5, "record_id": "Q07955-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR11-1", "uniprot_id": [ { "id": "ZN302_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR11", "type": "external" } ], "mass": 54814.0, "length": 478, "protein_name": "Zinc finger protein 302", "gene_name": "ZNF302", "organism": "Human", "refseq_name": "zinc finger protein 302 isoform c", "refseq_ac": [ { "id": "NP_001012320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012320", "type": "external" } ], "gene_names_uniprotkb": "ZNF302; ZNF135L; ZNF140L; ZNF327", "gene_names_refseq": "HSD16; MST154; MSTP154; ZNF135L; ZNF140L; ZNF302; ZNF327", "protein_names_uniprotkb": "Zinc finger protein 302; Zinc finger protein 135-like; Zinc finger protein 140-like; Zinc finger protein 327", "protein_names_refseq": "zinc finger protein 302 isoform c; zinc finger protein 327", "tax_id": 9606, "disease": "", "pathway": " (hsa:55900); (R-HSA-212436)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;24714562;25218447;25576301;25645385;26992070;28228285;28649982;28832583;28834231;28904123;29242379;29557506;30315122;30833945;31092671;31154438;31217245;31844290;31848261;32157095;32161166;32938616;32983136;33717175;33968037;34171305;35051231;36241641;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the zinc-finger protein family. The encoded protein contains seven C2H2-type zinc fingers and a KRAB domain, but its function has yet to be determined. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q658J3;Q9BZD8;Q9P0J4", "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": 4.3, "record_id": "Q9NR11-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13009-1", "uniprot_id": [ { "id": "TIAM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13009", "type": "external" } ], "mass": 177508.0, "length": 1591, "protein_name": "Rho guanine nucleotide exchange factor TIAM1", "gene_name": "TIAM1", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor TIAM1 isoform 1", "refseq_ac": [ { "id": "NP_003244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003244", "type": "external" } ], "gene_names_uniprotkb": "TIAM1", "gene_names_refseq": "NEDLDS; TIAM-1; TIAM1", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor TIAM1; T-lymphoma invasion and metastasis-inducing protein 1; TIAM-1", "protein_names_refseq": "T cell lymphoma invasion and metastasis 1; T-lymphoma invasion and metastasis-inducing protein 1; human T-lymphoma invasion and metastasis inducing TIAM1 protein; rho guanine nucleotide exchange factor TIAM1 isoform 1; rho guanine nucleotide exchange factor TIAM1", "tax_id": 9606, "disease": "cataract 48 (Disease Ontology:DOID:0070354); neurodevelopmental disorder with language delay and seizures (Disease Ontology:DOID:0070444)", "pathway": " (hsa:7074); (R-HSA-193648); (R-HSA-3928662); (R-HSA-3928665); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013423); (R-HSA-9032845); (R-HSA-9958810)", "pathway_count": 12, "publication_count": 452, "publication_id_list": 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"class_list": "", "function": "A TIAM1-TRIM28 complex mediates epigenetic silencing of protocadherins to promote migration of lung cancer cells., [RefSeq, PubMed]; Deficiency in SPOP-mediated ubiquitination and degradation of TIAM1 promotes gastric cancer progression., [RefSeq, PubMed]; Guanyl-nucleotide exchange factor that activates RHO-like proteins and connects extracellular signals to cytoskeletal activities. Activates RAC1, CDC42, and to a lesser extent RHOA and their downstream signaling to regulate processes like cell adhesion and cell migration., [UniProtKB, PubMed, PubMed]; TIAM1 acts as an actin organization regulator to control adipose tissue-derived pericyte cell fate. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a RAC1-specific guanine nucleotide exchange factor (GEF). GEFs mediate the exchange of guanosine diphosphate (GDP) for guanosine triphosphate (GTP). The binding of GTP induces a conformational change in RAC1 that allows downstream effectors to bind and transduce a signal. This gene thus regulates RAC1 signaling pathways that affect cell shape, migration, adhesion, growth, survival, and polarity, as well as influencing actin cytoskeletal formation, endocytosis, and membrane trafficking. This gene thus plays an important role in cell invasion, metastasis, and carcinogenesis. In addition to RAC1, the encoded protein activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protein isoforms that experience a diverse array of intramolecular, protein-protein, and phosphorylation interactions as well as phosphoinositide binding. Both the longer and shorter isoforms have C-terminal Dbl homology (DH) and pleckstrin homology (PH) domains while only the longer isoforms of this gene have the N-terminal myristoylation site and the downstream N-terminal PH domain, ras-binding domain (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domain. [provided by RefSeq, Jul 2017]., [RefSeq]; Tiam1 regulates proliferation, invasion, and differentiation in neuroblastoma through the Tiam1/Rac1 signaling pathway., [RefSeq, PubMed]; Upregulation of miR-22 alleviates oxygen-glucose deprivation/reperfusion-induced injury by targeting Tiam1 in SH-SY5Y cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 55, "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": "B7ZLR6;F5GZ53;Q17RT7", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding;GO:0019900 kinase binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0030054 cell junction", "go_biological_process": "GO:0010717 regulation of epithelial to mesenchymal transition;GO:0008284 positive regulation of cell population proliferation;GO:0016477 cell migration;GO:0030335 positive regulation of cell migration;GO:0048013 ephrin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 45.5, "record_id": "Q13009-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53FE4-1", "uniprot_id": [ { "id": "CD017_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53FE4", "type": "external" } ], "mass": 39644.0, "length": 359, "protein_name": "Uncharacterized protein C4orf17", "gene_name": "C4orf17", "organism": "Human", "refseq_name": "uncharacterized protein C4orf17", "refseq_ac": [ { "id": "NP_115525", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115525", "type": "external" } ], "gene_names_uniprotkb": "C4orf17", "gene_names_refseq": "C4orf17", "protein_names_uniprotkb": "Uncharacterized protein C4orf17", "protein_names_refseq": "uncharacterized protein C4orf17", "tax_id": 9606, "disease": "", "pathway": " (hsa:84103)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11230166;11237011;33968037", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6FI84;Q6IS77;Q8NA78;Q9H0D9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q53FE4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21926-1", "uniprot_id": [ { "id": "CD9_HUMAN", "url": "https://www.uniprot.org/uniprot/P21926", "type": "external" } ], "mass": 25416.0, "length": 228, "protein_name": "CD9 antigen", "gene_name": "CD9", "organism": "Human", "refseq_name": "CD9 antigen isoform 2", "refseq_ac": [ { "id": "NP_001317241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317241", "type": "external" } ], "gene_names_uniprotkb": "CD9; GIG2; MIC3; TSPAN29", "gene_names_refseq": "BTCC-1; CD9; DRAP-27; MIC3; MRP-1; TSPAN-29; TSPAN29", "protein_names_uniprotkb": "CD9 antigen; 5H9 antigen; Cell growth-inhibiting gene 2 protein; Leukocyte antigen MIC3; MRP-1; Motility-related protein; Tetraspanin-29; Tspan-29; p24", "protein_names_refseq": "5H9 antigen; BA-2/p24 antigen; CD9 antigen (p24); CD9 antigen isoform 2; antigen CD9; cell growth-inhibiting gene 2 protein; leukocyte antigen MIC3; motility related protein-1; tetraspanin-29", "tax_id": 9606, "disease": "urinary bladder cancer (Disease Ontology:DOID:11054); endometrial cancer (Disease Ontology:DOID:1380); ovarian cancer (Disease Ontology:DOID:2394); prostate adenocarcinoma (Disease Ontology:DOID:2526); transitional cell carcinoma (Disease Ontology:DOID:2671); cervix carcinoma (Disease Ontology:DOID:2893); severe acute respiratory syndrome (Disease Ontology:DOID:2945); breast carcinoma (Disease Ontology:DOID:3459)", "pathway": " (hsa:928); (R-HSA-114608); (R-HSA-1300645); (R-HSA-5336415)", "pathway_count": 4, "publication_count": 79, "publication_id_list": "11080640;11237011;11278880;11504738;11959120;12668662;12796480;1435334;14556650;14575715;14630798;15196249;15297306;164179;1720807;1840589;18508921;18541721;19335925;19640571;19658160;2037603;22069710;221484;23090970;2358073;23640497;23858057;24190977;24715725;25551757;25576301;25892735;26154972;26992070;27993971;2862151;29557506;30573663;30617019;30833945;31154438;31217245;31844290;32157095;32488085;32983136;33043033;33214551;33592498;34019948;34171305;34185709;34932366;35051231;35318648;35580925;36215666;36284347;37340703;38001171;38472425;38572553;39183551;39333849;40596516;4326212;5022429;5545092;6457647;7000782;7430147;7462325;7511626;8194524;8367482;8467233;8478605;8486348", "class_list": "", "function": "CD9 promotes TbetaR2-TbetaR1 association driving the transition of human dermal fibroblasts to myofibroblast under hypoxia. Publication Status: Online-Only, [RefSeq, PubMed]; CD9 shapes glucocorticoid sensitivity in pediatric B-cell precursor acute lymphoblastic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; High expression of CD9 and Epidermal Growth Factor Receptor promotes the development of tongue cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Immunohistochemical analysis of CD9, CD29 and epithelial to mesenchymal transition in triple-negative breast cancer., [RefSeq, PubMed]; Integral membrane protein associated with integrins, which regulates different processes, such as sperm-egg fusion, platelet activation and aggregation, and cell adhesion (PubMed:14575715, PubMed:18541721, PubMed:8478605). Present at the cell surface of oocytes and plays a key role in sperm-egg fusion, possibly by organizing multiprotein complexes and the morphology of the membrane required for the fusion (By similarity). In myoblasts, associates with CD81 and PTGFRN and inhibits myotube fusion during muscle regeneration (By similarity). In macrophages, associates with CD81 and beta-1 and beta-2 integrins, and prevents macrophage fusion into multinucleated giant cells specialized in ingesting complement-opsonized large particles (PubMed:12796480). Also prevents the fusion between mononuclear cell progenitors into osteoclasts in charge of bone resorption (By similarity). Acts as a receptor for PSG17 (By similarity). Involved in platelet activation and aggregation (PubMed:18541721). Regulates paranodal junction formation (By similarity). Involved in cell adhesion, cell motility and tumor metastasis (PubMed:7511626, PubMed:8478605)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Prognostic implications of CD9 in childhood acute lymphoblastic leukemia: insights from a nationwide multicenter study in China., [RefSeq, PubMed]; This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DUQ9;Q5J7W6;Q96ES4", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0016020 membrane;GO:0070062 extracellular exosome", "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:0031623 receptor internalization;GO:0030168 platelet activation", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P21926-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJV9-1", "uniprot_id": [ { "id": "DDX41_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJV9", "type": "external" } ], "mass": 69838.0, "length": 622, "protein_name": "Probable ATP-dependent RNA helicase DDX41", "gene_name": "DDX41", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX41 isoform 2", "refseq_ac": [ { "id": "NP_001308661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308661", "type": "external" } ], "gene_names_uniprotkb": "DDX41; ABS", "gene_names_refseq": "ABS; DDX41; MPLPF", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX41; 3.6.4.13; DEAD box protein 41; DEAD box protein abstrakt homolog", "protein_names_refseq": "Abstrakt; DEAD (Asp-Glu-Ala-Asp) box polypeptide 41; DEAD box protein 41; DEAD box protein abstrakt homolog; DEAD-box protein abstrakt; probable ATP-dependent RNA helicase DDX41 isoform 2; probable ATP-dependent RNA helicase DDX41; putative RNA helicase", "tax_id": 9606, "disease": "myeloproliferative neoplasm (Disease Ontology:DOID:2226); DDX41-related hematologic malignancy predisposition syndrome (MONDO:MONDO:0014809)", "pathway": " (hsa:51428); (R-HSA-1834941); (R-HSA-3134975); (R-HSA-3270619); (R-HSA-72163)", "pathway_count": 5, "publication_count": 216, "publication_id_list": "10607561;10882114;11014198;11035028;11101529;11233976;11237011;11839743;11991638;12133833;12176931;12411573;12414731;12477934;12692549;14625303;14713954;15210742;15302935;15690390;16281057;16306936;16314458;16565220;16809785;16920715;17081983;17095540;17332742;17483521;17526488;17606899;18220336;18322460;18452278;18559423;18593880;18669648;18818105;19103666;19165350;19307177;19413330;19433799;19536130;19651622;19664994;19690332;19776740;19926846;20068231;20305658;20423332;20890285;20941364;20980672;21074459;21098106;21170271;21536652;21575908;2176635;21813776;21862588;21892174;21947006;22110043;22365833;22388039;22394562;22424782;22579474;22619329;22645359;22691496;22705373;22728658;22745133;22959432;22961380;23142775;23186163;23222130;23222971;23236153;23258412;23258413;23345524;23481700;24196718;24304693;24448447;24560620;24715725;24737827;24914973;25555158;25576301;2558966;25645385;25704810;25920683;26030138;26154972;26385511;26420826;26712909;26969736;26992070;27377154;27459055;27502187;27600516;27683217;27846572;27920218;28062851;28076346;28218747;28228285;28502770;28781166;28832583;28834231;29242379;29301961;29360106;29361316;29393594;29437277;29493099;29557506;29632046;29632711;2963332;30315122;30315277;30410026;30524438;30705154;30728453;30765414;30833945;30975767;31092671;31154438;31217245;31409651;31530632;31844290;31848261;31998317;32157095;32161166;32179686;32265295;32329775;32357974;32387766;32494006;32703943;32897882;32938616;32983136;33141586;33214551;33243851;33298915;33392160;33446560;33592498;33633747;33650667;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34301950;34405274;34473945;34509645;34561969;34822310;35051231;35385551;35561310;35580925;35613581;36010968;36229594;36241641;36284347;36780110;37506341;3757028;37705260;37874914;38282418;38492200;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "DDX41 is an additional DNA sensor that depends on STING to sense pathogenic DNA. Erratum:[Nat Immunol. 2012 Feb;13(2):196] Publication Status: Online-Only, [RefSeq, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]., [RefSeq]; Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines. Review article, [RefSeq, PubMed]; Germline DDX41 mutant predisposition syndromes: Slow driver states to hematological malignancies., [RefSeq, PubMed]; Multifunctional protein that participates in many aspects of cellular RNA metabolism. Plays pivotal roles in innate immune sensing and hematopoietic homeostasis (PubMed:34473945). Recognizes foreign or self-nucleic acids generated during microbial infection, thereby initiating anti-pathogen responses (PubMed:23222971). Mechanistically, phosphorylation by BTK allows binding to dsDNA leading to interaction with STING1 (PubMed:25704810). Modulates the homeostasis of dsDNA through its ATP-dependent DNA-unwinding activity and ATP-independent strand-annealing activity (PubMed:35613581). In turn, induces STING1-mediated type I interferon and cytokine responses to DNA and DNA viruses (PubMed:35613581). Selectively modulates the transcription of certain immunity-associated genes by regulating their alternative splicing (PubMed:33650667). Binds to RNA (R)-loops, structures consisting of DNA/RNA hybrids and a displaced strand of DNA that occur during transcription, and prevents their accumulation, thereby maintaining genome stability (PubMed:36229594). Also participates in pre-mRNA splicing, translational regulation and snoRNA processing, which is essential for ribosome biogenesis (PubMed:36229594, PubMed:36780110)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Prevalence and significance of DDX41 gene variants in the general population., [RefSeq, PubMed]; Results suggest a mechanism whereby c-di-GMP and c-di-AMP are detected by DDX41, which forms a complex with STING to signal to TBK1-IRF3 and activate the interferon response, [RefSeq, PubMed]; Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3' splice site usage. Publication Status: Online-Only, [RefSeq, PubMed]; The N-terminal domain of Abs interacts with the phox homology (PX) domain of SNX2 suggesting that PX domains may also participate in protein-protein interaction., [RefSeq, PubMed]; The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDC8;Q96BK6;Q96K05;Q9NT96;Q9NW04", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "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": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0008283 cell population proliferation;GO:0030154 cell differentiation;GO:0006915 apoptotic process;GO:0000398 mRNA splicing, via spliceosome;GO:0140896 cGAS/STING signaling pathway", "synthesized_glycan_count": 0, "hit_score": 21.9, "record_id": "Q9UJV9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N23-1", "uniprot_id": [ { "id": "CFA54_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N23", "type": "external" } ], "mass": 351970.0, "length": 3096, "protein_name": "Cilia- and flagella-associated protein 54", "gene_name": "CFAP54", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 54 isoform 1", "refseq_ac": [ { "id": "NP_001293013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293013", "type": "external" } ], "gene_names_uniprotkb": "CFAP54; C12orf55; C12orf63", "gene_names_refseq": "C12orf55; C12orf63; CFAP54; CILD54; SPGF98", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 54", "protein_names_refseq": "cilia and flagella associated 54; cilia- and flagella-associated protein 54 isoform 1", "tax_id": 9606, "disease": "spermatogenic failure 98 (Disease Ontology:DOID:0070727); ciliary dyskinesia, primary, 54 (MONDO:MONDO:0100607)", "pathway": " (hsa:144535)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;26992070;29557506;30192525;31092671;32387766;32488085;33141586;33392160;35051231;35580925;36593121;37725231;39894887", "class_list": "", "function": "Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA., [RefSeq, PubMed]; Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients., [RefSeq, PubMed]; Required for assembly and function of cilia and flagella., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PJL5;Q6ZTY8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005930 axoneme", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0007283 spermatogenesis;GO:0060271 cilium assembly;GO:0120316 sperm flagellum assembly", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96N23-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEX9-1", "uniprot_id": [ { "id": "IPO4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEX9", "type": "external" } ], "mass": 118715.0, "length": 1081, "protein_name": "Importin-4", "gene_name": "IPO4", "organism": "Human", "refseq_name": "importin-4", "refseq_ac": [ { "id": "NP_078934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078934", "type": "external" } ], "gene_names_uniprotkb": "IPO4; IMP4B; RANBP4", "gene_names_refseq": "IPO4; Imp4", "protein_names_uniprotkb": "Importin-4; Imp4b; Imp4; Importin-4b; Ran-binding protein 4; RanBP4", "protein_names_refseq": "imp4b; importin-4b; importin-4; ran-binding protein 4; ranBP4", "tax_id": 9606, "disease": "", "pathway": " (hsa:79711)", "pathway_count": 1, "publication_count": 83, "publication_id_list": "11237011;11823430;12610148;16207705;16964243;17682055;21454524;22223895;22407294;23301498;23481700;24715725;25576301;25645385;25880248;25892735;26992070;27397612;27600516;27846572;27920218;28218747;28228285;28467828;28510447;28832583;28834231;28904123;29242379;29314611;29408485;29437277;29557506;29769354;30177573;30315122;30410026;30524438;30779550;31020640;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32661323;32938616;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34725712;34932366;35051231;35318648;35561310;35580925;36010968;36103578;36215666;36241641;36284347;37938771;38665916;38780165;39302247;40914422", "class_list": "", "function": "Demonstrated that vitamin D receptor (VDR) has two nuclear import systems: ligand-dependent & ligand-independent pathways, & that importin 4 fulfills the ligand-independent nuclear transport through the interaction with the amino terminus of VDR, [RefSeq, PubMed]; Inhibiting Importin 4-mediated nuclear import of CEBPD enhances chemosensitivity by repression of PRKDC-driven DNA damage repair in cervical cancer., [RefSeq, PubMed]; Nuclear transport receptor that mediates nuclear import of proteins, such as histones, RPS3A, TNP2 and VDR (PubMed:11823430, PubMed:16207705, PubMed:17682055, PubMed:21454524, PubMed:30177573). Serves as receptor for nuclear localization signals (NLS) in cargo substrates (PubMed:11823430, PubMed:16207705). Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism (PubMed:11823430, PubMed:16207705). At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran (PubMed:11823430). 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 (PubMed:11823430). Mediates the nuclear import of the histone H3-H4 dimer when in complex with ASF1 (ASF1A or ASF1B) (PubMed:21454524, PubMed:29408485, PubMed:36103578). Also mediates the nuclear import of monomeric histones H3.1 and H4 (PubMed:30177573). Mediates the ligand-independent nuclear import of vitamin D receptor (VDR) (PubMed:16207705). In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS (PubMed:12610148)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Nucleoporin Nup98 is an essential factor for ipo4 dependent protein import., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 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": "B2RN95;Q2NL96;Q86TZ9;Q8NCG8;Q96SJ3;Q9BTI4;Q9H5L0", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0008139 nuclear localization sequence binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0000785 chromatin;GO:0032991 protein-containing complex", "go_biological_process": "GO:0034504 protein localization to nucleus;GO:0006606 protein import into nucleus;GO:0006886 intracellular protein transport", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q8TEX9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y237-1", "uniprot_id": [ { "id": "PIN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y237", "type": "external" } ], "mass": 13810.0, "length": 131, "protein_name": "Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4", "gene_name": "PIN4", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 isoform 2", "refseq_ac": [ { "id": "NP_001164218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164218", "type": "external" } ], "gene_names_uniprotkb": "PIN4", "gene_names_refseq": "EPVH; PAR14; PAR17; PIN4; hEPVH; hPar14; hPar17", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4; 5.2.1.8; PPIase Pin4; Par14; Par17; Parvulin-14; Parvulin-17; Peptidyl-prolyl cis-trans isomerase Pin4; Peptidyl-prolyl cis/trans isomerase EPVH; Rotamase Pin4; hEPVH; hPar14; hPar17", "protein_names_refseq": "PPIase PIN4; eukaryotic parvulin homolog; parvulin-14; parvulin-17; peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 isoform 2; peptidyl-prolyl cis-trans isomerase NIMA-interacting 4; peptidyl-prolyl cis-trans isomerase Pin4; peptidyl-prolyl cis/trans isomerase EPVH; protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin); rotamase PIN4", "tax_id": 9606, "disease": "", "pathway": " (hsa:5303)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10100858;10364457;10966801;11162102;11237011;12144781;12860119;16522211;17875217;19369196;22645359;25418920;25505266;25576301;26154972;28510447;28649982;28832583;29242379;29393594;29493099;29557506;30429286;31844290;32157095;32350084;32357974;32387766;32488085;33968037;34229054;34509645;35318648;36583514", "class_list": "", "function": "Identification of a longer Parvulin isoform (Par17) that has an extension at the 5' end including a 75 bp extended open reading frame. Publication Status: Online-Only, [RefSeq, PubMed]; Isoform 1 is involved as a ribosomal RNA processing factor in ribosome biogenesis. Binds to tightly bent AT-rich stretches of double-stranded DNA., [UniProtKB, PubMed]; Isoform 2 binds to double-stranded DNA., [UniProtKB, PubMed]; Par14 interacts with the androgen receptor, augmenting both its transcriptional activity and prostate cancer proliferation., [RefSeq, PubMed]; The N-terminal basic domain of human parvulin hPar14 is responsible for the entry to the nucleus and high-affinity DNA-binding., [RefSeq, PubMed]; This gene encodes a member of the parvulin subfamily of the peptidyl-prolyl cis/trans isomerase protein family. The encoded protein catalyzes the isomerization of peptidylprolyl bonds, and may play a role in the cell cycle, chromatin remodeling, and/or ribosome biogenesis. The encoded protein may play an additional role in the mitochondria. [provided by RefSeq, Dec 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "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": "A8E0G6;B3KXM0;F5H1P5;Q0D2H3;Q3MHV0;Q52M21;Q5HYW6;Q6IRW4", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0003681 bent DNA binding;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003690 double-stranded DNA binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0030684 preribosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9Y237-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVT0-1", "uniprot_id": [ { "id": "TTL10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVT0", "type": "external" } ], "mass": 75042.0, "length": 673, "protein_name": "Inactive polyglycylase TTLL10", "gene_name": "TTLL10", "organism": "Human", "refseq_name": "inactive polyglycylase TTLL10 isoform 1", "refseq_ac": [ { "id": "NP_001123517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123517", "type": "external" } ], "gene_names_uniprotkb": "TTLL10", "gene_names_refseq": "TTLL10; TTLL5", "protein_names_uniprotkb": "Inactive polyglycylase TTLL10; Tubulin--tyrosine ligase-like protein 10", "protein_names_refseq": "inactive polyglycylase TTLL10 isoform 1; inactive polyglycylase TTLL10; tubulin tyrosine ligase-like family, member 10; tubulin tyrosine ligase-like family, member 5; tubulin--tyrosine ligase-like protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:254173); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11237011;1520276;15890843;16901895;16959974;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;21074048;23358242;25103237;25468068;25957412;29146868;29557506;33968037;35051231;39894887;7452228", "class_list": "", "function": "Inactive polyglycylase., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "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": "B1AMF6;Q5T2W4;Q5T2W5;Q8N9X2", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0070735 protein-glycine ligase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0018094 protein polyglycylation", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q6ZVT0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60308-1", "uniprot_id": [ { "id": "CE104_HUMAN", "url": "https://www.uniprot.org/uniprot/O60308", "type": "external" } ], "mass": 104448.0, "length": 925, "protein_name": "Centrosomal protein of 104 kDa", "gene_name": "CEP104", "organism": "Human", "refseq_name": "centrosomal protein of 104 kDa", "refseq_ac": [ { "id": "NP_055519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519", "type": "external" } ], "gene_names_uniprotkb": "CEP104; KIAA0562", "gene_names_refseq": "CEP104; CFAP256; GlyBP; JBTS25; KIAA0562; MRT77; ROC22", "protein_names_uniprotkb": "Centrosomal protein of 104 kDa; Cep104", "protein_names_refseq": "centrosomal protein 104kDa; centrosomal protein of 104 kDa", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 77 (Disease Ontology:DOID:0081236); Joubert syndrome 25 (Disease Ontology:DOID:0110994)", "pathway": " (hsa:9731)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;21399614;21740066;22885064;23481700;23970417;24366607;24714562;24715725;25576301;25645385;25880248;26154972;26375851;26477546;26992070;27600516;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29485866;29493099;29557506;29632711;29786170;30315122;30429286;30779550;31154438;31530632;31844290;32157095;32161166;32357974;32387766;32453716;32488085;32502341;32820051;32938616;33298915;33717175;33912179;33936100;33968037;34171305;34196201;34405274;34509645;34932366;35051231;35359234;35494241;35561310;35580925;36010968;36241641;37938771", "class_list": "", "function": "CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in CEP104 is associated with Joubert Syndrome., [RefSeq, PubMed]; Required for ciliogenesis and for structural integrity at the ciliary tip., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling., [RefSeq, PubMed]; This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 27, "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": "A0A024R4G3;Q5JSQ3;Q5SR24;Q5SR25;Q6PKF5;Q86W32;Q86X14", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005929 cilium;GO:0005814 centriole", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "O60308-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC29-1", "uniprot_id": [ { "id": "ENKUR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC29", "type": "external" } ], "mass": 29454.0, "length": 256, "protein_name": "Enkurin", "gene_name": "ENKUR", "organism": "Human", "refseq_name": "enkurin isoform 2", "refseq_ac": [ { "id": "NP_001257312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257312", "type": "external" } ], "gene_names_uniprotkb": "ENKUR; C10orf63", "gene_names_refseq": "C10orf63; CFAP106; ENKUR", "protein_names_uniprotkb": "Enkurin", "protein_names_refseq": "enkurin isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:219670)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;15385169;29557506;30947633;31154438;33139725;35051231;35414777;36191189;37315179", "class_list": "", "function": "Adapter that functions to localize a calcium-sensitive signal transduction machinery in sperm to a calcium-permeable ion channel (By similarity). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189)., [UniProtKB, UniProtKB, PubMed]; Data suggest that enkurin is an adaptor that functions to localize a Ca2+ sensitive signal transduction machinery in sperm to a Ca2+-permeable ion channel [enkurin], [RefSeq, PubMed]; Decreased ENKUR expression is associated with Colorectal Cancer., [RefSeq, PubMed]; ENKUR expression induced by chemically synthesized cinobufotalin suppresses malignant activities of hepatocellular carcinoma by modulating beta-catenin/c-Jun/MYH9/USP7/c-Myc axis. Publication Status: Online-Only, [RefSeq, PubMed]; Enkurin: a novel marker for myeloproliferative neoplasms from platelet, megakaryocyte, and whole blood specimens., [RefSeq, PubMed]; This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8K8Y0;D3DRV2", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum;GO:0097228 sperm principal piece;GO:0005879 axonemal microtubule;GO:0097225 sperm midpiece", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0061966 establishment of left/right asymmetry", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8TC29-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P68366-1", "uniprot_id": [ { "id": "TBA4A_HUMAN", "url": "https://www.uniprot.org/uniprot/P68366", "type": "external" } ], "mass": 49924.0, "length": 448, "protein_name": "Tubulin alpha-4A chain", "gene_name": "TUBA4A", "organism": "Human", "refseq_name": "tubulin alpha-4A chain isoform 2", "refseq_ac": [ { "id": "NP_001265481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265481", "type": "external" } ], "gene_names_uniprotkb": "TUBA4A; TUBA1", "gene_names_refseq": "ALS22; CMYO26; FTDALS9; H2-ALPHA; OZEMA23; SPAX11; TUBA1; TUBA4A", "protein_names_uniprotkb": "Tubulin alpha-4A chain; 3.6.5.-; Alpha-tubulin 1; Testis-specific alpha-tubulin; Tubulin H2-alpha; Tubulin alpha-1 chain", "protein_names_refseq": "tubulin H2-alpha; tubulin alpha-1 chain; tubulin alpha-4A chain isoform 2; tubulin, alpha 1 (testis specific)", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); amyotrophic lateral sclerosis type 22 (Disease Ontology:DOID:0060355); congenital myopathy 26 (Disease Ontology:DOID:0061257); polymicrogyria (Disease Ontology:DOID:0080918); lissencephaly 3 (Disease Ontology:DOID:0112232); microlissencephaly (Disease Ontology:DOID:0112234); spastic ataxia 11, autosomal dominant (MONDO:MONDO:0979230); oocyte/zygote/embryo maturation arrest 23 (MONDO:MONDO:0979231)", "pathway": " (hsa:7277); (R-HSA-114608); (R-HSA-1445148); (R-HSA-190840); (R-HSA-190861); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-2565942); (R-HSA-3371497); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-389957); (R-HSA-389960); (R-HSA-389977); (R-HSA-437239); (R-HSA-5610787); (R-HSA-5620912); (R-HSA-5620920); (R-HSA-5620924); (R-HSA-5626467); (R-HSA-5663220); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8852276); (R-HSA-8854518); (R-HSA-8955332); (R-HSA-9609690); (R-HSA-9609736); (R-HSA-9619483); (R-HSA-9646399); (R-HSA-9648025); (R-HSA-9668328); (R-HSA-983189); (R-HSA-9833482)", "pathway_count": 39, "publication_count": 877, "publication_id_list": 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"class_list": "", "function": "A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A., [RefSeq, PubMed]; In silico analysis of TUBA4A mutations in Amyotrophic Lateral Sclerosis to define mechanisms of microtubule disintegration. Publication Status: Online-Only, [RefSeq, PubMed]; Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]., [RefSeq]; Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation. Publication Status: Online-Only, [RefSeq, PubMed]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MUB1;B3KNQ6;P05215", "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": "6.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.-", "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": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "5.6.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.3", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.1.30.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.30.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.15.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.15.1.1", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": 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{ "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.124", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "6.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-", "type": "external" }, { "id": "5.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" } ], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0016787 hydrolase activity;GO:0019901 protein kinase binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005874 microtubule", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0030182 neuron differentiation;GO:0000226 microtubule cytoskeleton organization;GO:0007017 microtubule-based process", "synthesized_glycan_count": 0, "hit_score": 88.1, "record_id": "P68366-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQR1-1", "uniprot_id": [ { "id": "ZN148_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQR1", "type": "external" } ], "mass": 88976.0, "length": 794, "protein_name": "Zinc finger protein 148", "gene_name": "ZNF148", "organism": "Human", "refseq_name": "zinc finger protein 148 isoform a", "refseq_ac": [ { "id": "NP_001335353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335353", "type": "external" } ], "gene_names_uniprotkb": "ZNF148; ZBP89", "gene_names_refseq": "BERF-1; BFCOL1; GDACCF; HT-BETA; ZBP-89; ZFP148; ZNF148; pHZ-52", "protein_names_uniprotkb": "Zinc finger protein 148; Transcription factor ZBP-89; Zinc finger DNA-binding protein 89", "protein_names_refseq": "Beta-Enolase Repressor Factor-1; CACCC box-binding protein; CLL-associated antigen KW-10; binding factor of a type-I collagen promoter; transcription factor ZBP-89; zinc finger DNA-binding protein 89; zinc finger protein 148 isoform a", "tax_id": 9606, "disease": "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (MONDO:MONDO:0014994)", "pathway": " (hsa:7707)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "10359087;11237011;15190078;15302935;16964243;17081983;17322306;17560543;18452278;18669648;18691976;18767875;19413330;19608861;19651622;19690332;20058876;20068231;23186163;24275569;24714562;25114211;25218447;25576301;25755297;26154972;26811146;26992070;27846572;27862975;27964749;28832583;28904123;29242379;29351928;29493099;29557506;30429286;30833945;31092671;31154438;31217245;31492838;31844290;31848261;32060966;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33691108;33717175;33912179;33936100;33968037;34019948;34171305;34561969;34932366;35051231;35132862;35254053;35580925;36010968;36241641;36710662;37063077;37288664;37580113;38297280;38665916;39534244;40307207;40596516;9457682", "class_list": "", "function": "Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of the MALAT1/miR-106a-5p/ZNF148 feedback loop in regulating HaCaT cell proliferation, migration and apoptosis., [RefSeq, PubMed]; Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes., [UniProtKB]; Loss of ZNF148 enhances insulin secretion in human pancreatic beta cells. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]., [RefSeq]; Upregulation of the ZNF148/PTX3 axis promotes malignant transformation of dendritic cells in glioma stem-like cells microenvironment., [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": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "D3DN27;O00389;O43591;Q58EY5;Q6PJ98", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010629 negative regulation of gene expression;GO:0006968 cellular defense response", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q9UQR1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46087-1", "uniprot_id": [ { "id": "NOP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P46087", "type": "external" } ], "mass": 89302.0, "length": 812, "protein_name": "28S rRNA (cytosine(4447)-C(5))-methyltransferase", "gene_name": "NOP2", "organism": "Human", "refseq_name": "28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform 1", "refseq_ac": [ { "id": "NP_001028886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028886", "type": "external" } ], "gene_names_uniprotkb": "NOP2; NOL1; NSUN1", "gene_names_refseq": "NOL1; NOP120; NOP2; NSUN1; p120", "protein_names_uniprotkb": "28S rRNA (cytosine(4447)-C(5))-methyltransferase; 2.1.1.-; Nucleolar protein 1; Nucleolar protein 2 homolog; Proliferating-cell nucleolar antigen p120; Proliferation-associated nucleolar protein p120", "protein_names_refseq": "28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform 1; NOL1/NOP2/Sun domain family, member 1; NOP2 nucleolar protein homolog; nucleolar protein 1, 120kDa; nucleolar protein 2 homolog; probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase; proliferating-cell nucleolar antigen p120; proliferation-associated nucleolar protein p120; putative ribosomal RNA methyltransferase NOP2", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); Williams-Beuren syndrome (Disease Ontology:DOID:1928)", "pathway": " (hsa:4839); (R-HSA-6790901); (R-HSA-8869496)", "pathway_count": 3, "publication_count": 120, "publication_id_list": "10606270;11081632;11237011;11935223;11978965;12417735;12429849;1394192;15199136;16381836;16782898;16964243;17081983;17318229;17636026;17924679;18220336;18669648;18691976;19033376;19463982;19608861;19690332;20047967;20068231;20112406;20926688;21406692;2256932;23186163;23391857;23481700;2372471;23848194;24086612;24120868;25114211;25411247;25418920;25525153;25576301;25653167;2576976;25851604;26085946;26154972;26196125;26811146;26929215;26992070;27084949;27600516;27846572;27920218;28063628;28649982;28832583;28855257;28904123;29242379;29351928;29393594;29508533;29557506;29632046;29786170;29789417;30315122;30340600;30429286;30484775;31154438;31217245;31373491;31530632;31844290;31848261;31998317;32119511;32157095;32387766;32488085;32502341;32522876;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34561969;34725712;35051231;35381832;35580925;36010968;36161484;36215666;36241641;36284347;36581221;37498063;38253038;38665916;39013911;40596516;8089149;9211966;9512526;9654073", "class_list": "", "function": "Human NOP2/NSUN1 regulates ribosome biogenesis through non-catalytic complex formation with box C/D snoRNPs., [RefSeq, PubMed]; NOP2 facilitates EZH2-mediated epithelial-mesenchymal transition by enhancing EZH2 mRNA stability via m5C methylation in lung cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; NOP2-mediated m5C methylation of XPD is associated with hepatocellular carcinoma progression., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 4447 in 28S rRNA (PubMed:26196125). Required for efficient rRNA processing and 60S ribosomal subunit biogenesis (PubMed:24120868, PubMed:36161484). Regulates pre-rRNA processing through non-catalytic complex formation with box C/D snoRNAs and facilitates the recruitment of U3 and U8 snoRNAs to pre-90S ribosomal particles and their stable assembly into snoRNP complexes (PubMed:36161484). May play a role in the regulation of the cell cycle and the increased nucleolar activity that is associated with the cell proliferation (PubMed:24120868)., [UniProtKB, PubMed, PubMed, PubMed]; Upregulated expression of NOP2 predicts worse prognosis of gastric adenocarcinoma by promoting tumor growth., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A1A4Z3;B3KPD6;Q05BA7;Q0P5S5;Q3KQS4;Q58F30", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0009383 rRNA (cytosine-C5-)-methyltransferase activity;GO:0003723 RNA binding;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity;GO:0008173 RNA methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0042273 ribosomal large subunit biogenesis;GO:1901796 regulation of signal transduction by p53 class mediator;GO:0006364 rRNA processing;GO:0000027 ribosomal large subunit assembly", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "P46087-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TD26-1", "uniprot_id": [ { "id": "CHD6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TD26", "type": "external" } ], "mass": 305412.0, "length": 2715, "protein_name": "ATP-dependent chromatin remodeler CHD6", "gene_name": "CHD6", "organism": "Human", "refseq_name": "ATP-dependent chromatin remodeler CHD6", "refseq_ac": [ { "id": "NP_115597", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115597", "type": "external" } ], "gene_names_uniprotkb": "CHD6; CHD5; KIAA1335; RIGB", "gene_names_refseq": "CHD-6; CHD5; CHD6; RIGB", "protein_names_uniprotkb": "ATP-dependent chromatin remodeler CHD6; 3.6.4.-; CHD-6; Chromo domain-containing protein 6; Radiation-induced gene B protein", "protein_names_refseq": "ATP-dependent chromatin remodeler CHD6; ATP-dependent helicase CHD6; chromo domain-containing protein 6; helicase C-terminal domain- and SNF2 N-terminal domain-containing protein; radiation-induced gene B protein", "tax_id": 9606, "disease": "CHARGE syndrome (Disease Ontology:DOID:0050834); autism spectrum disorder (Disease Ontology:DOID:0060041); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:84181); (R-HSA-9818027); (R-HSA-9943962)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "10706635;10733945;10821856;10921920;11237011;11274398;11309284;11356022;11507205;11744694;11889561;12234984;12235164;12506115;15448164;15520857;15590625;15728556;15960975;16095617;16314513;16878130;16949368;17027977;17081983;17143291;17234762;17350655;17603073;17924679;17942419;18077418;18378692;18627065;19028565;19273602;19608619;20453063;20460467;20631145;21775727;21899694;22667998;22995213;23027624;23285124;23408615;24041992;24366607;25002527;25418920;25576301;25631877;26811146;26992070;27100828;27600516;27653015;27756681;27846572;27862975;27920218;28063628;28411811;28533432;28832583;28834231;28904123;28985506;29242379;29393594;29493099;29508533;29557506;29632046;29693710;29786170;29959055;30315122;30379171;30429286;30484775;30651562;30779550;30833945;31154438;31530632;31597407;31844290;31848261;31998317;32157095;32284348;32357974;32387766;32488085;32502341;32601262;32938616;32983136;33043019;33462411;33592498;33717175;33774477;33912179;33968037;33981976;34021162;34171305;34932366;35051231;35561310;35580925;36010968;36228153;36241641;36284347;36408932;37217939;37938771;39534244;6261960;7959763;9240432", "class_list": "", "function": "(Microbial infection) Acts as a transcriptional repressor of different viruses including influenza virus or papillomavirus. During influenza virus infection, the viral polymerase complex localizes CHD6 to inactive chromatin where it gets degraded in a proteasome independent-manner., [UniProtKB, PubMed, PubMed, PubMed]; ATP-dependent chromatin-remodeling factor (PubMed:17027977, PubMed:28533432). Regulates transcription by disrupting nucleosomes in a largely non-sliding manner which strongly increases the accessibility of chromatin; nucleosome disruption requires ATP (PubMed:28533432). Activates transcription of specific genes in response to oxidative stress through interaction with NFE2L2., [UniProtKB, PubMed, PubMed, PubMed]; Both RNA knockdown experiments and mutational analyses of the E2C domain suggest that binding of CHD6 to E8--E2C contributes to the transcriptional repression of the huma papillomavirus E6/E7 oncogene promoter., [RefSeq, PubMed]; CHD6 colocalizes with both hypo- and hyper-phosphorlylated forms of RNA polymerase II. CHD6 was found to be present at sites of mRNA synthesis and to be part of a high molecular weight complex., [RefSeq, PubMed]; CHD6 has a negative role in the influenza virus cycle because the virus replicates more efficiently in CHD6-silenced cells., [RefSeq, PubMed]; CHD6 promotes broad nucleosome eviction for transcriptional activation in prostate cancer cells. Erratum:[Nucleic Acids Res. 2023 Mar 21;51(5):2498. doi: 10.1093/nar/gkad114. PMID: 36794715], [RefSeq, PubMed]; Data suggest that CHD6 and CHD7 both bind with high affinity to short linker DNA, whereas CHD8 requires longer DNA for binding; thus, CHD8 slides nucleosomes into positions with more flanking linker DNA than CHD7; CHD6 disrupts nucleosomes in a distinct non-sliding manner., [RefSeq, PubMed]; Describes AY034072, the sequence of a gene whose original symbol, CHD5, has been changed to CHD6., [RefSeq, PubMed]; Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology. Publication Status: Online-Only, [RefSeq, PubMed]; Study shows that Chromodomain Helicase DNA-binding protein 6 (CHD6), distinct to other CHD enzymes, is stabilized during oxidative stress via reduced degradation and suggests that CHD6 is a key regulator of the oxidative DNA damage response. Publication Status: Online-Only, [RefSeq, PubMed]; The role of CHD6 in regulating the chromatin topology of CFTR as an exemplary genetic model for this mechanism was described. GeneRIF: CHD6 regulates the topology of the CFTR locus, [RefSeq, PubMed]; This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 58, "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": "Q5JYQ0;Q5TGZ9;Q5TH00;Q5TH01;Q8IZR2;Q8WTY0;Q9H4H6;Q9H6D4;Q9NTT7;Q9P2L1", "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": "1.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.2", "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": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0042393 histone binding", "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:0045944 positive regulation of transcription by RNA polymerase II;GO:0045454 cell redox homeostasis;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q8TD26-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10966-1", "uniprot_id": [ { "id": "CD8B_HUMAN", "url": "https://www.uniprot.org/uniprot/P10966", "type": "external" } ], "mass": 23722.0, "length": 210, "protein_name": "T-cell surface glycoprotein CD8 beta chain", "gene_name": "CD8B", "organism": "Human", "refseq_name": "T-cell surface glycoprotein CD8 beta chain isoform 6 precursor", "refseq_ac": [ { "id": "NP_001171571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171571", "type": "external" } ], "gene_names_uniprotkb": "CD8B; CD8B1", "gene_names_refseq": "CD8B1; CD8B; CD8beta; LEU2; LY3; LYT3; Ly-3; P37", "protein_names_uniprotkb": "T-cell surface glycoprotein CD8 beta chain", "protein_names_refseq": "CD8 antigen, beta polypeptide 1 (p37); CD8b molecule; Ly-3 homolog; T lymphocyte surface glycoprotein beta chain; T-cell surface glycoprotein CD8 beta chain isoform 6 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:926); (R-HSA-182218); (R-HSA-198933)", "pathway_count": 3, "publication_count": 95, "publication_id_list": "10499918;10746781;10925291;11237011;11265639;11489943;11513152;11556966;11714755;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;1541829;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16103193;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17145893;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18490743;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;25703557;25716998;26284469;26300885;26992070;27346574;28976984;29242379;3145195;3145196;3264320;32983136;33324408;34412704;7531291;7542404;8178173;8436166;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "CD45RA, CD8beta, and IFNgamma Are Potential Immune Biomarkers of Human Cognitive Function. Publication Status: Online-Only, [RefSeq, PubMed]; Endometrioid endometrial carcinomas are capable of down-regulating CD8 expression by cytotoxic T lymphocytes., [RefSeq, PubMed]; Experimental colitis promotes sustained, sex-dependent, T-cell-associated neuroinflammation and parkinsonian neuropathology. Publication Status: Online-Only, [RefSeq, PubMed]; Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class I molecule:peptide complex. The antigens presented by class I peptides are derived from cytosolic proteins while class II derived from extracellular proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class I proteins presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. A palmitoylation site in the cytoplasmic tail of CD8B chain contributes to partitioning of CD8 into the plasma membrane lipid rafts where signaling proteins are enriched. Once LCK recruited, it initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of cytotoxic T-lymphocytes (CTLs). Additionally, plays a critical role in thymic selection of CD8+ T-cells., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Results suggest that mycoplasma induces a resistance to multiple drugs in hepatocarcinoma cells which required the interaction of P37 and Annexin A2. The pathway downstream this interaction needs to be explored Publication Status: Online-Only, [RefSeq, PubMed]; Study demonstrated differential mRNA expression patterns of CD8beta splice variants in thymocytes and in resting, memory, and activated primary CD8(+) T cells, [RefSeq, PubMed]; The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize antigens displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The functional coreceptor is either a homodimer composed of two alpha chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 beta chain isoforms. Multiple alternatively spliced transcript variants encoding distinct membrane associated or secreted isoforms have been described. A pseudogene, also located on chromosome 2, has been identified. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "P14860;P14861;Q15980;Q496E0;Q496E1;Q496E2;Q9UDB4;Q9UDB5;Q9UDB6;Q9UDB7;Q9UDB8;Q9UDB9;Q9UDC0;Q9UQ55", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity;GO:0042288 MHC class I protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0042101 T cell receptor complex;GO:0031901 early endosome membrane", "go_biological_process": "GO:0006955 immune response;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0042110 T cell activation;GO:0050852 T cell receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P10966-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75746-1", "uniprot_id": [ { "id": "S2512_HUMAN", "url": "https://www.uniprot.org/uniprot/O75746", "type": "external" } ], "mass": 74762.0, "length": 678, "protein_name": "Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial", "gene_name": "SLC25A12", "organism": "Human", "refseq_name": "electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial", "refseq_ac": [ { "id": "NP_003696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003696", "type": "external" } ], "gene_names_uniprotkb": "SLC25A12; AGC1; ARALAR1", "gene_names_refseq": "AGC1; ARALAR; DEE39; EIEE39; SLC25A12", "protein_names_uniprotkb": "Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial; Araceli hiperlarga; Aralar1; Aralar; Mitochondrial aspartate glutamate carrier 1; Solute carrier family 25 member 12", "protein_names_refseq": "araceli hiperlarga; aspartate/glutamate carrier 1; calcium binding mitochondrial carrier superfamily member Aralar1; calcium-binding mitochondrial carrier protein Aralar1; electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial; mitochondrial aspartate glutamate carrier 1; solute carrier family 25 (aspartate/glutamate carrier), member 12; solute carrier family 25 (mitochondrial carrier, Aralar), member 12", "tax_id": 9606, "disease": "Asperger syndrome (Disease Ontology:DOID:0050432); fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); autism spectrum disorder (Disease Ontology:DOID:0060041); neonatal-onset type II citrullinemia (Disease Ontology:DOID:0070341); developmental and epileptic encephalopathy 39 (Disease Ontology:DOID:0080349); autistic disorder (Disease Ontology:DOID:12849); intrahepatic cholestasis (Disease Ontology:DOID:1852); common bile duct disease (Disease Ontology:DOID:4137); citrullinemia (Disease Ontology:DOID:9273)", "pathway": " (hsa:8604); (R-HSA-1268020); (R-HSA-8963693); (R-HSA-9856872)", "pathway_count": 4, "publication_count": 96, "publication_id_list": "10085079;10369257;10642534;11237011;11566871;12602510;14716746;14726512;15254020;15565635;15644312;15683237;16185709;16467855;16669630;16849325;16920706;17027983;17194761;17510655;18174896;18678864;19409522;19453276;19641205;19678840;19767391;19807691;19962426;20593814;21750375;22304711;2241899;22718265;23038267;23041349;23597483;23811401;24155240;24515575;24657844;24715725;25315652;25410934;25489052;25637873;2564390;26154972;26697887;26992070;27045997;27600516;2775751;27846572;28218747;28228285;28510447;28832583;28904123;29242379;29372909;29431636;29437277;29508533;29557506;30315122;30379171;30410026;3052244;30779550;31217245;31538237;31844290;32157095;32357974;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33981976;34211107;34357683;34509645;35051231;36010968;38945283;39096789;4052435;40596516;40914422;4687397;8597574;9722566", "class_list": "", "function": "Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871, PubMed:19641205, PubMed:24515575, PubMed:38945283). Also mediates the uptake of L-cysteinesulfinate (3-sulfino-L-alanine) by mitochondria in exchange of L-glutamate and proton (PubMed:11566871). Can also exchange L-cysteinesulfinate with aspartate in their anionic form without any proton translocation (PubMed:11566871). Lacks transport activity towards L-glutamine or gamma-aminobutyric acid (GABA) (PubMed:38945283)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; SLC25A12 inhibits Japanese encephalitis virus replication by interacting with the NS1 and enhancing the type I interferon response., [RefSeq, PubMed]; This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KR64;Q96AM8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0005313 L-glutamate transmembrane transporter activity;GO:0015183 L-aspartate transmembrane transporter activity;GO:0000514 3-sulfino-L-alanine: proton, glutamate antiporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0051592 response to calcium ion;GO:0015810 aspartate transmembrane transport;GO:0015813 L-glutamate transmembrane transport;GO:0043490 malate-aspartate shuttle;GO:0006851 mitochondrial calcium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "O75746-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2V2-1", "uniprot_id": [ { "id": "CHSP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2V2", "type": "external" } ], "mass": 15892.0, "length": 147, "protein_name": "Calcium-regulated heat-stable protein 1", "gene_name": "CARHSP1", "organism": "Human", "refseq_name": "calcium-regulated heat-stable protein 1", "refseq_ac": [ { "id": "NP_001035941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035941", "type": "external" } ], "gene_names_uniprotkb": "CARHSP1", "gene_names_refseq": "CARHSP1; CRHSP-24; CRHSP24; CSDC1", "protein_names_uniprotkb": "Calcium-regulated heat-stable protein 1; CRHSP-24; Calcium-regulated heat-stable protein of 24 kDa", "protein_names_refseq": "calcium regulated heat stable protein 1, 24kDa; calcium-regulated heat-stable protein (24kD); calcium-regulated heat-stable protein 1; calcium-regulated heat-stable protein of 24 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:23589)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;14654843;15302935;15910284;16083285;16964243;17081983;17287340;17322306;18088087;18212344;18220336;18669648;18691976;18767875;19413330;19415658;19477163;19651622;19664994;19664995;20058876;20068231;20166139;21078874;21177848;21406692;21990353;23186163;23301498;24275569;24366607;26899994;27920218;28514659;30429286;32488085;32938616;33592498;33968037;34019948;34290231;34725712;35154160;36010968;38665916;9712905", "class_list": "", "function": "Binds mRNA and regulates the stability of target mRNA. Binds single-stranded DNA (in vitro)., [UniProtKB, PubMed, PubMed]; CARHSP1 inhibits hepatic gluconeogenic gene expression via repression of PPARalpha, [RefSeq, PubMed]; CRHSP-24 participates in oxidative stress response via a dynamic and temporal association between stress granules and processing bodies., [RefSeq, PubMed]; Genome-wide CRISPR/Cas9 screening identifies CARHSP1 responsible for radiation resistance in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Increased miR-155 relieves chronic inflammation by a negative feedback loop and plays a protective role during atherosclerosis-associated foam cell formation by signaling through the miR-155-CARHSP1-TNF-alpha 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": 16, "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": "B2R4C3;D3DUF5;Q2YDX5;Q9BQ53", "ec_number_list": [], "go_molecular_function": "GO:0003730 mRNA 3'-UTR binding;GO:0019902 phosphatase binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body;GO:0000177 cytoplasmic exosome (RNase complex);GO:0043186 P granule", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0043488 regulation of mRNA stability", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9Y2V2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51788-1", "uniprot_id": [ { "id": "CLCN2_HUMAN", "url": "https://www.uniprot.org/uniprot/P51788", "type": "external" } ], "mass": 98535.0, "length": 898, "protein_name": "Chloride channel protein 2", "gene_name": "CLCN2", "organism": "Human", "refseq_name": "chloride channel protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001164558", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164558", "type": "external" } ], "gene_names_uniprotkb": "CLCN2", "gene_names_refseq": "CIC-2; CLC2; CLCN2; ECA2; ECA3; EGI11; EGI3; EGMA; EJM6; EJM8; FHA2; FHII; HALD2; LKPAT; clC-2", "protein_names_uniprotkb": "Chloride channel protein 2; ClC-2", "protein_names_refseq": "chloride channel 2; chloride channel protein 2 isoform 2; chloride channel protein 2; chloride channel, voltage-sensitive 2", "tax_id": 9606, "disease": "familial hyperaldosteronism II (Disease Ontology:DOID:0061249); obsolete idiopathic generalized epilepsy 11 (Disease Ontology:DOID:0111312); leukodystrophy (Disease Ontology:DOID:10579); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); conduct disorder (Disease Ontology:DOID:12995); cystic fibrosis (Disease Ontology:DOID:1485); coronary artery disease (Disease Ontology:DOID:3393); myopathy (Disease Ontology:DOID:423); primary hyperaldosteronism (Disease Ontology:DOID:446); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); leukoencephalopathy with mild cerebellar ataxia and white matter edema (MONDO:MONDO:0014292)", "pathway": " (hsa:1181); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 129, "publication_id_list": "10.1101/2023.09.13.557529;10198195;10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12612585;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16155254;16219661;16813530;16849430;16850186;17381423;17448995;17567819;17699613;17762171;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19191339;19200853;19307298;19380724;19387438;19620632;19710712;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22405205;22773952;22946059;2298749;23112050;23186163;2321095;23481700;23616951;23632988;23707145;24190977;2536303;25418920;25645385;26359375;26562072;28071645;28154142;28790369;28904123;29403011;29403012;29557506;29632711;29769354;29789417;30315122;30524438;31154438;31844290;32157095;32265295;32357974;32488085;32938616;33968037;34070744;34148308;34185709;35051231;36010968;36241641;36964785;38345841;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function., [RefSeq, PubMed]; Can Unlikely Neanderthal Chloride Channel CLC-2 Gene Variants Provide Insights in Modern Human Infertility?, [RefSeq, PubMed]; Regulation of ClC-2 Chloride Channel Proteostasis by Molecular Chaperones: Correction of Leukodystrophy-Associated Defect. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]., [RefSeq]; Voltage-gated and osmosensitive chloride channel. Forms a homodimeric channel where each subunit has its own ion conduction pathway. Conducts double-barreled currents controlled by two types of gates, two fast glutamate gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously. Displays inward rectification currents activated upon membrane hyperpolarization and extracellular hypotonicity (PubMed:16155254, PubMed:17567819, PubMed:19191339, PubMed:23632988, PubMed:29403011, PubMed:29403012, PubMed:36964785, PubMed:38345841). Contributes to chloride conductance involved in neuron excitability. In hippocampal neurons, generates a significant part of resting membrane conductance and provides an additional chloride efflux pathway to prevent chloride accumulation in dendrites upon GABA receptor activation. In glia, associates with the auxiliary subunit HEPACAM/GlialCAM at astrocytic processes and myelinated fiber tracts where it may regulate transcellular chloride flux buffering extracellular chloride and potassium concentrations (PubMed:19191339, PubMed:22405205, PubMed:23707145). Regulates aldosterone production in adrenal glands. The opening of CLCN2 channels at hyperpolarized membrane potentials in the glomerulosa causes cell membrane depolarization, activation of voltage-gated calcium channels and increased expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis (PubMed:29403011, PubMed:29403012). Contributes to chloride conductance in retinal pigment epithelium involved in phagocytosis of shed photoreceptor outer segments and photoreceptor renewal (PubMed:36964785). Conducts chloride currents at the basolateral membrane of epithelial cells with a role in chloride reabsorption rather than secretion (By similarity) (PubMed:16155254). Permeable to small monovalent anions with chloride > thiocyanate > bromide > nitrate > iodide ion selectivity (By similarity) (PubMed:29403012)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DQT9;B4DZ58;E9PBD9;E9PCD2;O14864;Q6IPA9;Q8WU13", "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:0072320 volume-sensitive chloride channel activity;GO:0017081 chloride channel regulator activity;GO:0005247 voltage-gated chloride channel activity;GO:0005254 chloride channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0043204 perikaryon;GO:0043209 myelin sheath;GO:0034707 chloride channel complex", "go_biological_process": "GO:0071476 cellular hypotonic response;GO:0030322 stabilization of membrane potential;GO:0006911 phagocytosis, engulfment;GO:0048714 positive regulation of oligodendrocyte differentiation;GO:0030324 lung development", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "P51788-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYS0-1", "uniprot_id": [ { "id": "ASTRC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYS0", "type": "external" } ], "mass": 76035.0, "length": 662, "protein_name": "Protein Aster-C", "gene_name": "GRAMD1C", "organism": "Human", "refseq_name": "protein Aster-C isoform 2", "refseq_ac": [ { "id": "NP_001165576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165576", "type": "external" } ], "gene_names_uniprotkb": "GRAMD1C; PRO6095", "gene_names_refseq": "GRAMD1C; LAMc", "protein_names_uniprotkb": "Protein Aster-C; GRAM domain-containing protein 1C", "protein_names_refseq": "GRAM domain-containing protein 1C; protein Aster-C isoform 2; protein Aster-C", "tax_id": 9606, "disease": "", "pathway": " (hsa:54762)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;12975309;26992070;27920218;28218747;28228285;28904123;29393594;29437277;29508533;29557506;30315122;30410026;31844290;32357974;32502341;33298915;33392160;33592498;33968037;35051231;35580925", "class_list": "", "function": "Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K9Y1;A8KA99;Q6AW94;Q6UWN1;Q8N6S0;Q9UF46", "ec_number_list": [], "go_molecular_function": "GO:0015485 cholesterol binding;GO:0120020 cholesterol transfer activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0140268 endoplasmic reticulum-plasma membrane contact site;GO:0016020 membrane", "go_biological_process": "GO:0032366 intracellular sterol transport;GO:0071397 cellular response to cholesterol", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8IYS0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96H22-1", "uniprot_id": [ { "id": "CENPN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96H22", "type": "external" } ], "mass": 39555.0, "length": 339, "protein_name": "Centromere protein N", "gene_name": "CENPN", "organism": "Human", "refseq_name": "centromere protein N isoform 2", "refseq_ac": [ { "id": "NP_001094094", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094094", "type": "external" } ], "gene_names_uniprotkb": "CENPN; BM-309; C16orf60; ICEN32", "gene_names_refseq": "BM039; C16orf60; CENP-N; CENPN; ICEN32", "protein_names_uniprotkb": "Centromere protein N; CENP-N; Interphase centromere complex protein 32", "protein_names_refseq": "centromere protein N isoform 2; interphase centromere complex protein 32", "tax_id": 9606, "disease": "", "pathway": " (hsa:55839); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-606279); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 144, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15369671;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16716197;16890222;16943183;17030981;17081983;17112726;17113138;17129783;17196341;17198702;17199038;17339379;1737036;18001770;18007590;18097444;18669648;18691976;18716626;18923426;19350017;19398759;19410544;19410545;19543270;19696148;19815554;19965387;20030946;20068231;20080577;20101212;20566683;20591975;21111234;21148482;21397845;21406692;21576392;21768289;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23186163;23222643;23481700;23801653;24715725;24914801;25576301;25740311;25789526;26992070;27499292;27920218;28228285;28649982;28832583;28904123;29242379;29557506;29786170;30315122;30484775;30524438;30833945;31092671;31154438;31217245;31409757;31530632;31844290;32157095;32357974;32502341;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34260926;34405274;34509645;35051231;35422519;35561310;36010968;36215666;36241641;37127048;37365681;37697245;9649308;9649503;9892021", "class_list": "", "function": "CENP-N promotes the compaction of centromeric chromatin., [RefSeq, PubMed]; Clinical implications and immune features of CENPN in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPN is the first protein to bind specifically to CENPA nucleosomes and the direct binding of CENPA nucleosomes by CENPN is required for centromere assembly. Required for chromosome congression and efficiently align the chromosomes on a metaphase plate., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Data suggest that CENP-N interprets the information encoded within CENP-A nucleosomes and recruits other proteins to centromeric chromatin that are required for centromere function and propagation., [RefSeq, PubMed]; Dynamic phosphorylation of CENP-N by CDK1 guides accurate chromosome segregation in mitosis., [RefSeq, PubMed]; Knockdown of CENPN Inhibits Glucose Metabolism and Induces G1 Arrest in Esophageal Cancer Cells by Regulating PI3K/AKT Signaling Pathway., [RefSeq, PubMed]; The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MZE6;B3KN53;B4DJD1;B4DPY7;C9JJM5;D3DUK8;E7ES30;E7ETS3;Q9NZ83", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000776 kinetochore;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0007059 chromosome segregation;GO:0034080 CENP-A containing chromatin assembly", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "Q96H22-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1V2-1", "uniprot_id": [ { "id": "CFA52_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1V2", "type": "external" } ], "mass": 68298.0, "length": 620, "protein_name": "Cilia- and flagella-associated protein 52", "gene_name": "CFAP52", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 52 isoform c", "refseq_ac": [ { "id": "NP_001074025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074025", "type": "external" } ], "gene_names_uniprotkb": "CFAP52; WDR16; WDRPUH", "gene_names_refseq": "CFAP52; HTX10; WDR16; WDRPUH", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 52; WD repeat-containing protein 16; WD40-repeat protein up-regulated in HCC", "protein_names_refseq": "WD repeat domain 16; WD repeat-containing protein 16; WD40-repeat protein up-regulated in HCC; WD40-repeat protein upregulated in HCC; cilia- and flagella-associated protein 52 isoform c", "tax_id": 9606, "disease": "visceral heterotaxy 10 (Disease Ontology:DOID:0051024)", "pathway": " (hsa:146845)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;15967112;19615748;31844290;33139725;35494241;35580925;36191189;37236356", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme (PubMed:36191189). Important for proper ciliary and flagellar beating. May act in cooperation with CFAP45 and axonemal dynein subunit DNAH11 (PubMed:33139725). May play a role in cell growth and/or survival (PubMed:15967112)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice., [RefSeq, PubMed]; WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]., [RefSeq]; WDRPUH is a novel WD-repeat-containing protein highly expressed in human hepatocellular carcinoma and involved in cell proliferation, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDU7;Q5DX23;Q8TC73;Q8TCI3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0005879 axonemal microtubule;GO:0097225 sperm midpiece;GO:0097729 9+2 motile cilium", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0061966 establishment of left/right asymmetry", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8N1V2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78369-1", "uniprot_id": [ { "id": "CLD10_HUMAN", "url": "https://www.uniprot.org/uniprot/P78369", "type": "external" } ], "mass": 24488.0, "length": 228, "protein_name": "Claudin-10", "gene_name": "CLDN10", "organism": "Human", "refseq_name": "claudin-10 isoform a_i1", "refseq_ac": [ { "id": "NP_001153572", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153572", "type": "external" } ], "gene_names_uniprotkb": "CLDN10", "gene_names_refseq": "CLDN10; CPETRL3; HELIX; OSP-L; OSPL", "protein_names_uniprotkb": "Claudin-10; OSP-like; Oligodendrocyte-specific protein-like", "protein_names_refseq": "OSP-like protein; claudin-10 isoform a_i1; oligodendrocyte-specific protein-like", "tax_id": 9606, "disease": "HELIX syndrome (Disease Ontology:DOID:0070746); transient cerebral ischemia (Disease Ontology:DOID:224); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9071); (R-HSA-420029); (R-HSA-9925563)", "pathway_count": 3, "publication_count": 13, "publication_id_list": "11237011;11447115;11964389;12953056;16129888;19383724;19706394;28686597;28771254;35414767;35650657;35902997;36008380", "class_list": "", "function": "Claudin-10 overexpression suppresses human clear cell renal cell carcinoma growth and metastasis by regulating ATP5O and causing mitochondrial dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Forms anion-selective paracellular channels. In renal proximal tubules, it conveys selective chloride over hydrogencarbonate anion permeability which is required for renal chloride reabsorption and salt homeostasis., [UniProtKB, PubMed, UniProtKB, PubMed]; Forms cation-selective paracellular channels. In sweat glands and in the thick ascending limb (TAL) of Henle's loop in kidney, it controls paracellular sodium permeability which is essential for proper sweat production and renal function (PubMed:19383724, PubMed:28686597, PubMed:28771254, PubMed:35650657, PubMed:36008380)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Forms paracellular channels: polymerizes in tight junction strands with cation- and anion-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth., [RefSeq, PubMed]; This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The expression level of this gene is associated with recurrence of primary hepatocellular carcinoma. Six alternatively spliced transcript variants encoding different isoforms have been reported, but the transcript sequences of some variants are not determined.[provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "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": "Q6IBF9;Q96N78", "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" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity;GO:0160187 paracellular tight junction channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0070160 tight junction", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0007155 cell adhesion;GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules;GO:0043269 regulation of monoatomic ion transport;GO:0160184 paracellular transport", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P78369-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GE4-1", "uniprot_id": [ { "id": "CEP95_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GE4", "type": "external" } ], "mass": 95297.0, "length": 821, "protein_name": "Centrosomal protein of 95 kDa", "gene_name": "CEP95", "organism": "Human", "refseq_name": "centrosomal protein of 95 kDa isoform 2", "refseq_ac": [ { "id": "NP_001303919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303919", "type": "external" } ], "gene_names_uniprotkb": "CEP95; CCDC45; CEP45", "gene_names_refseq": "CCDC45; CEP95", "protein_names_uniprotkb": "Centrosomal protein of 95 kDa; Cep95; Coiled-coil domain-containing protein 45", "protein_names_refseq": "centrosomal protein 95kDa; centrosomal protein of 95 kDa isoform 2; centrosomal protein of 95 kDa; coiled-coil domain containing 45; coiled-coil domain-containing protein 45", "tax_id": 9606, "disease": "", "pathway": " (hsa:90799)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11237011;14654843;17525332;18669648;19664994;21399614;21406692;24397554;25576301;25645385;26154972;26811146;26992070;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29632046;29769354;29786170;30315122;30524438;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33968037;34171305;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36284347;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DMD2;Q96M81", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q96GE4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14209-1", "uniprot_id": [ { "id": "CD99_HUMAN", "url": "https://www.uniprot.org/uniprot/P14209", "type": "external" } ], "mass": 18848.0, "length": 185, "protein_name": "CD99 antigen", "gene_name": "CD99", "organism": "Human", "refseq_name": "CD99 antigen isoform b precursor", "refseq_ac": [ { "id": "NP_001116370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116370", "type": "external" } ], "gene_names_uniprotkb": "CD99; MIC2X; MIC2Y; MIC2", "gene_names_refseq": "CD99; HBA71; MIC2X; MIC2Y; MIC2; MSK5X", "protein_names_uniprotkb": "CD99 antigen; 12E7; E2 antigen; Protein MIC2; T-cell surface glycoprotein E2", "protein_names_refseq": "CD99 antigen isoform b precursor; CD99 antigen; E2 antigen; MIC2 (monoclonal antibody 12E7); T-cell surface glycoprotein E2; antigen identified by monoclonal 12E7, Y homolog; antigen identified by monoclonal antibodies 12E7, F21 and O13; cell surface antigen 12E7; cell surface antigen HBA-71; cell surface antigen O13; surface antigen MIC2", "tax_id": 9606, "disease": "", "pathway": " (hsa:4267); (R-HSA-198933); (R-HSA-202733)", "pathway_count": 3, "publication_count": 199, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10499918;10606205;10746781;10764623;11207550;11237011;11256994;11265639;11489943;11513152;11556966;11564780;11779189;11807247;11812992;11857637;11858820;11861603;11955593;11955595;11955599;12070135;12208882;12213321;12469115;12483297;12526082;12588680;12782713;14529530;14615387;14719373;14970179;15000751;15034010;15136729;15155468;15187158;15304001;15528364;15534202;15541655;15580655;15607800;15681301;15721307;15778510;15781451;15800062;15851719;15864273;1591491;16014749;16091383;16129954;16258728;16297198;16339513;16380601;16551255;16585556;16691243;16737824;16737840;16754721;16783819;16893496;16904340;16928187;17045824;17057721;17064312;17099249;17116209;17167768;17172599;17237375;17322099;17337780;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19279206;19359216;19531498;19592130;20730098;21193412;21241660;21659548;21800138;21841309;21877119;22396535;22661428;22869377;23186163;23301498;23584533;23695528;23929856;23945545;24043627;24305946;2456574;24714562;24715725;24764293;2479542;2538457;25502872;25576301;25645385;25703557;25716998;25810538;25813380;26154972;26284469;26300885;26992070;27397612;27846572;28467828;28904123;29493099;29557506;30429286;30459171;31217245;31611695;31844290;32157095;32162841;32350084;32488085;32502341;32938616;32983136;33043033;33141586;33592498;33936100;34171305;34357683;34433824;3472717;34932366;35051231;35154160;35251023;35580925;36241641;36284347;37938771;37977819;38338867;38665916;38750588;38804310;39445501;468991;7509040;7521878;7531291;7542404;8163559;8166770;8178173;8314844;8995416;9052782;9169774;9242610;9285412;9295288;9314561;9382878;9520450;9693095;9700512;9730896;9763524", "class_list": "", "function": "CD99 Modulates the Proteomic Landscape of Ewing Sarcoma Cells and Related Extracellular Vesicles. Publication Status: Online-Only, [RefSeq, PubMed]; CD_99 G1 neutrophils modulate osteogenic differentiation of mesenchymal stem cells in the pathological process of ankylosing spondylitis. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in T-cell adhesion processes and in spontaneous rosette formation with erythrocytes. Plays a role in a late step of leukocyte extravasation helping leukocytes to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1. Involved in T-cell adhesion processes (By similarity)., [UniProtKB]; RNA sequencing comparing centenarian and middle-aged women lymphoblastoid cell lines identifies age-related dysregulated expression of genes encoding selenoproteins, heat shock proteins, CD99, and BID., [RefSeq, PubMed]; Sex- and species-specific contribution of CD99 to T cell costimulation during multiple sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a cell surface glycoprotein involved in leukocyte migration, T-cell adhesion, ganglioside GM1 and transmembrane protein transport, and T-cell death by a caspase-independent pathway. In addition, the encoded protein may have the ability to rearrange the actin cytoskeleton and may also act as an oncosuppressor in osteosarcoma. This gene is found in the pseudoautosomal region of chromosomes X and Y and escapes X-chromosome inactivation. There is a related pseudogene located immediately adjacent to this locus. [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": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A6NIW1;O00518;Q6ICV7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0034109 homotypic cell-cell adhesion;GO:2000391 positive regulation of neutrophil extravasation;GO:0072683 T cell extravasation", "synthesized_glycan_count": 0, "hit_score": 21.3, "record_id": "P14209-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H5J8-1", "uniprot_id": [ { "id": "TAF1D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H5J8", "type": "external" } ], "mass": 32058.0, "length": 278, "protein_name": "TATA box-binding protein-associated factor RNA polymerase I subunit D", "gene_name": "TAF1D", "organism": "Human", "refseq_name": "TATA box-binding protein-associated factor RNA polymerase I subunit D", "refseq_ac": [ { "id": "NP_077021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077021", "type": "external" } ], "gene_names_uniprotkb": "TAF1D; JOSD3", "gene_names_refseq": "JOSD3; RAFI41; TAF(I)41; TAF1D; TAFI41", "protein_names_uniprotkb": "TATA box-binding protein-associated factor RNA polymerase I subunit D; RNA polymerase I-specific TBP-associated factor 41 kDa; TAFI41; TATA box-binding protein-associated factor 1D; TBP-associated factor 1D; Transcription initiation factor SL1/TIF-IB subunit D", "protein_names_refseq": "Josephin domain containing 3; RNA polymerase I-specific TBP-associated factor 41 kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa; TATA box-binding protein-associated factor 1D; TATA box-binding protein-associated factor RNA polymerase I subunit D; TATA-box binding protein associated factor, RNA polymerase I, D; TBP-associated factor 1D; transcription initiation factor SL1/TIF-IB subunit D", "tax_id": 9606, "disease": "", "pathway": " (hsa:79101); (R-HSA-427359); (R-HSA-427413); (R-HSA-5250924); (R-HSA-73762); (R-HSA-73772); (R-HSA-73863)", "pathway_count": 7, "publication_count": 60, "publication_id_list": "10082553;10471499;10913176;11237011;11250901;12393749;12646563;14610093;14969726;15469825;1547496;15520167;15558034;15970593;16514417;16603771;17318177;17355984;18485871;18669648;19413330;19664994;19690332;19838300;21406692;21559432;22805593;23186163;23481700;23555303;23667505;23897426;24901984;24952918;25892735;25916849;26154972;27418187;27418309;2805069;28228285;29557506;29769354;31154438;31530632;31844290;32161166;32488085;32938616;33298915;33717175;33912179;33968037;35580925;36581221;37094904;7491500;7597036;7801123;9582279", "class_list": "", "function": "An antigrowth activity and modulations of cell cycle events are identified in cells expressing siRNAMGC5306., [RefSeq, PubMed]; Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; TAF(I)41 (MGC5306) is integral to transcriptionally active SL1 and plays a role in Pol I recruitment and, therefore, preinitiation complex formation in vivo., [RefSeq, PubMed]; TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]., [RefSeq]; TAF1D promotes proliferation by transcriptionally activating G2/M phase-related genes in MYCN-amplified neuroblastoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q6I9Y6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005668 RNA polymerase transcription factor SL1 complex;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9H5J8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NF50-1", "uniprot_id": [ { "id": "DOCK8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NF50", "type": "external" } ], "mass": 238529.0, "length": 2099, "protein_name": "Dedicator of cytokinesis protein 8", "gene_name": "DOCK8", "organism": "Human", "refseq_name": "dedicator of cytokinesis protein 8 isoform 2", "refseq_ac": [ { "id": "NP_001177387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177387", "type": "external" } ], "gene_names_uniprotkb": "DOCK8", "gene_names_refseq": "DOCK8; HEL-205; HIES2; MRD2; ZIR8", "protein_names_uniprotkb": "Dedicator of cytokinesis protein 8", "protein_names_refseq": "1200017A24Rik; dedicator of cytokinesis protein 8 isoform 2; dedicator of cytokinesis protein 8; epididymis luminal protein 205", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 2 (Disease Ontology:DOID:0070032); hyper IgE recurrent infection syndrome 2 (Disease Ontology:DOID:0080594); immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (Disease Ontology:DOID:0090110); bacterial infectious disease (Disease Ontology:DOID:104); hepatitis B (Disease Ontology:DOID:2043); atopic dermatitis (Disease Ontology:DOID:3310); viral infectious disease (Disease Ontology:DOID:934); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:81704); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013409); (R-HSA-983231)", "pathway_count": 5, "publication_count": 393, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10729223;10873802;10958683;10967094;11007481;11042108;11058585;11062261;11085924;11149925;11237011;11242053;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11744692;11751636;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11895428;11912491;11948177;11950885;11961559;12032298;12071859;12093360;12096337;12134158;12172552;12195014;12221096;12351724;12427746;12432077;12456725;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15020713;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15247287;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15710388;15728722;15850391;15858067;15897194;16002401;16054028;16112081;16116428;16184169;16217026;16243036;1630448;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17027967;17064668;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18060736;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18786931;18835169;18838382;18929667;18991276;19269969;19293402;19369195;19494238;19605563;19640199;19673492;19713215;19776401;19934221;20058876;20068231;20400958;20460433;20530532;20627800;20679435;20810653;21148482;21454492;21542010;21565175;21613211;21685891;21730051;21865595;218813;21989057;22004470;22096251;22298643;22407364;22424782;22461490;22475431;22571869;22608513;22734669;22970203;22971344;23029280;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23783831;23940355;24086303;24169519;24259668;24335996;24352656;24366607;24584464;24714562;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25418920;25428919;25576301;25704760;25721503;25762780;25795300;25862245;25880248;25892735;25963737;26129894;26154972;26299518;26375851;26529257;26598554;26728094;26845023;26887924;26992070;27096001;27117132;27145964;27216196;27397612;27481945;27543614;27555588;27566826;27655845;27713499;27798618;27806292;27846572;27862975;27920218;28028151;28063628;28114311;28196833;28218747;28228285;28514659;28825699;28832583;28834231;28860189;28860633;28904123;29089502;29242379;29351928;29358323;29382922;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30061681;30315122;30410026;30429286;30524438;30853411;31154438;31217245;31530632;31844290;31848261;31871319;31998317;32157095;32203420;32265295;32302585;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33633747;33717175;33912179;33936100;3409321;34185709;34211107;34357683;34509645;34561969;34932366;35051231;35318648;35494241;35561310;35580925;36010968;36241641;36284347;36581221;37815217;37938771;38185418;38351896;38587548;40914422;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662638;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8816476;8939998;8990121;8994827;9013646;9065479;9099726;9113980;9230307;9268338;9305890;9326583;9331217;9405671;9422515;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9829970;9843499;9846874;9927674;9988689", "class_list": "", "function": "A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families., [RefSeq, PubMed]; Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India., [RefSeq, PubMed]; Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency., [RefSeq, PubMed]; Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:22461490, PubMed:28028151). During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane (PubMed:28028151). Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing (PubMed:25762780)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Involvement of DOCK8 in processes that affect the organisation of filamentous actin., [RefSeq, PubMed]; Rare mutations in the DOCK8 gene may contribute to some cases of autosomal dominant mental retardation, [RefSeq, PubMed]; Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency., [RefSeq, PubMed]; This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]., [RefSeq]; Under-expression of DOCK8 is associated with hepatocellular carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 53, "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": "A2A350;A2BDF2;A4FU78;B7ZLP0;E9PH09;Q3MV16;Q5JPJ1;Q8TEP1;Q8WUY2;Q9BYJ5;Q9H1Q2;Q9H1Q3;Q9H308;Q9H7P2", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031252 cell leading edge", "go_biological_process": "GO:0061485 memory T cell proliferation;GO:1903905 positive regulation of establishment of T cell polarity;GO:1990869 cellular response to chemokine;GO:0043547 positive regulation of GTPase activity;GO:0051056 regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 39.7, "record_id": "Q8NF50-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T3I0-1", "uniprot_id": [ { "id": "GPTC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T3I0", "type": "external" } ], "mass": 50381.0, "length": 446, "protein_name": "G patch domain-containing protein 4", "gene_name": "GPATCH4", "organism": "Human", "refseq_name": "G patch domain-containing protein 4 isoform 3", "refseq_ac": [ { "id": "NP_001383784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001383784", "type": "external" } ], "gene_names_uniprotkb": "GPATCH4; GPATC4", "gene_names_refseq": "GPATC4; GPATCH4", "protein_names_uniprotkb": "G patch domain-containing protein 4", "protein_names_refseq": "G patch domain-containing protein 4 isoform 3; g patch domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:54865)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;16712791;18669648;19913121;20068231;20628086;21406692;23186163;23301498;23481700;24714562;25418920;25576301;25645385;25892735;26154972;26375851;26929215;26992070;27920218;28063628;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30833945;31844290;32157095;32387766;32502341;32561536;32897882;32938616;32983136;33933995;33968037;34087483;34171305;35561310;35580925;37217939;37938771;38113271;38113722", "class_list": "", "function": "G-patch domain-containing protein 4 localizes to both the nucleoli and Cajal bodies and regulates cell growth and nucleolar structure., [RefSeq, PubMed]; GPATCH4 contributes to nucleolus morphology and its dysfunction impairs cell viability., [RefSeq, PubMed]; GPATCH4 regulates rRNA and snRNA 2'-O-methylation in both DHX15-dependent and DHX15-independent manners., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "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": "Q5T3I1;Q6ZUE7;Q8IWG8;Q9NXH4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q5T3I0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15524-1", "uniprot_id": [ { "id": "SOCS1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15524", "type": "external" } ], "mass": 23551.0, "length": 211, "protein_name": "Suppressor of cytokine signaling 1", "gene_name": "SOCS1", "organism": "Human", "refseq_name": "suppressor of cytokine signaling 1", "refseq_ac": [ { "id": "NP_003736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003736", "type": "external" } ], "gene_names_uniprotkb": "SOCS1; SSI1; TIP3", "gene_names_refseq": "AISIMD; CIS1; CISH1; JAB; SOCS-1; SOCS1; SSI-1; SSI1; TIP-3; TIP3", "protein_names_uniprotkb": "Suppressor of cytokine signaling 1; JAB; JAK-binding protein; SOCS-1; SSI-1; STAT-induced STAT inhibitor 1; TIP-3; Tec-interacting protein 3", "protein_names_refseq": "JAK binding protein; STAT induced SH3 protein 1; STAT-induced STAT inhibitor 1; Tec-interacting protein 3; cytokine-inducible SH2 protein 1; suppressor of cytokine signaling 1", "tax_id": 9606, "disease": "rheumatic heart disease (Disease Ontology:DOID:0050827); ductal carcinoma in situ (Disease Ontology:DOID:0060074); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); alcoholic hepatitis (Disease Ontology:DOID:12351); hyperinsulinism (Disease Ontology:DOID:2018); transient cerebral ischemia (Disease Ontology:DOID:224); laryngeal carcinoma (Disease Ontology:DOID:2600); asthma (Disease Ontology:DOID:2841); invasive ductal carcinoma (Disease Ontology:DOID:3008); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); ovarian carcinoma (Disease Ontology:DOID:4001); esophageal cancer (Disease Ontology:DOID:5041); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970); autoinflammatory syndrome with immunodeficiency (MONDO:MONDO:0800130)", "pathway": " (hsa:8651); (R-HSA-1266695); (R-HSA-1433559); (R-HSA-166058); (R-HSA-6785807); (R-HSA-877300); (R-HSA-877312); (R-HSA-909733); (R-HSA-912694); (R-HSA-9674555); (R-HSA-9705462); (R-HSA-982772); (R-HSA-983168)", "pathway_count": 13, "publication_count": 371, "publication_id_list": "10022928;10023775;10064597;10067896;10219247;10369418;10374881;10395669;10421843;10465784;10510379;10512686;10537111;10542297;10586089;10643150;10805787;10867011;10982844;10986460;11058569;11062501;11084045;11092454;11104795;11120780;11278437;11278610;11278729;11313480;11337497;11350924;11356008;11377645;11404376;11404481;11418668;11463377;11544529;11553846;11564764;11585831;11694501;11728342;11835308;11960013;11960372;11972023;11994499;12029096;12040185;12133942;12138165;12140561;12163497;12184921;12223527;12242343;12297423;12438563;12444928;12446674;12447441;12447442;12470648;12600988;12646216;12724322;12766484;12832402;12842042;12855578;12889071;12907755;12915721;1396683;14512302;14586410;14593182;14625308;14634100;14712222;14722222;14734113;14769151;15047845;1508672;15107455;15116091;15143187;15224091;15224092;15261459;15312780;15322115;15353558;15388922;15449939;1549776;15530433;15571818;15584925;15585605;15601820;15749844;15778442;15805299;15869882;15944945;15950906;16007214;16009940;16024789;16048438;16107692;16129412;16171819;16205632;16236134;16237089;16397018;16410555;16439361;16451196;16467876;16492764;16510571;16540365;16595681;16606674;16710296;16720384;16751103;16780420;16849449;16954532;16987978;1701053;17125875;17141195;17251292;1730654;17351669;17363902;17427945;17458857;17485511;17572495;17726518;17878161;17879956;17890055;17904548;17969444;18031232;18035202;18070880;18070982;18243101;18353781;18362138;18438411;18447642;18488018;18508557;18575461;18588518;18591661;18644434;18644974;18662542;18829464;19028597;19124156;19185846;19224918;19352404;19397496;19452197;19453968;1948064;19489725;19498957;19509286;19592493;19592497;19851334;19864382;19874575;19927328;19940261;20049711;20130243;20304997;20363976;20485341;20493732;20643137;20966070;21102457;21105711;21252155;2147944;21606490;21689689;21730069;21937440;21994466;22046235;2211721;22205702;22383755;22454496;22464331;2261476;22693070;22851691;23061660;23086340;23121362;23124025;23172665;2317865;23401859;23455323;23555662;23967200;24097101;24220695;24417533;24743777;24840642;25234944;25371710;25418920;26301565;26811146;26974155;26992070;27423467;27846572;27920218;28063628;2825030;28832583;28860189;29139090;29242379;29393594;29632046;30315122;30485383;30644389;31844290;31918398;32032529;32113509;32265295;32499645;32511913;32574262;32661006;32758689;32853638;32862111;33087723;33117408;33189161;33193462;33239784;33396578;3349036;33912179;35051231;38874740;38975347;39185902;39213866;6162102;6548414;688397;7489741;7510216;7512451;7512720;7514165;7514277;7520444;7521688;7526154;7529288;7530745;7537377;7539802;7540766;7615558;7617032;7657660;7673114;7684496;7690989;7691587;7719938;7795521;7796299;7796300;7805849;7898939;7907877;8085155;8128231;8156998;8176225;8188682;8197119;8197134;8232552;8266077;8343952;8483949;8530158;8550631;8602263;8605876;8621447;8621622;8631301;8663118;8668165;8702790;8702919;8709637;8797861;8816495;8837778;8943354;8977235;9008162;9013879;9030599;9058373;9096384;9111318;9121453;9143706;9202125;9202126;9226159;9233603;9242679;9266833;9334213;9341160;9380723;9398404;9430229;9528781;9553136;9651359;9660177;9668046;9715265;9723655;9727029;9736340;9822675;9847332;9861020;9864153;9874564;9885206", "class_list": "", "function": "Essential negative regulator of type I and type II interferon (IFN) signaling, as well as that of other cytokines, including IL2, IL4, IL6 and leukemia inhibitory factor (LIF) (PubMed:32499645, PubMed:33087723). Downregulates cytokine signaling by inhibiting the JAK/STAT signaling pathway. Acts by binding to JAK proteins and to IFNGR1 and inhibiting their kinase activity. In vitro, suppresses Tec protein-tyrosine activity (PubMed:9341160). Regulates IFN-gamma (IFNG)-mediated sensory neuron survival (By similarity). 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 (PubMed:11278610, PubMed:11313480)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Inflammatory factor-mediated miR-155/SOCS1 signaling axis leads to Treg impairment in systemic lupus erythematosus., [RefSeq, PubMed]; KLF4-induced upregulation of SOCS1 ameliorates myocardial ischemia/reperfusion injury by attenuating AC16 cardiomyocyte damage and enhancing M2 macrophage polarization., [RefSeq, PubMed]; SOCS1 and SOCS3 as key checkpoint molecules in the immune responses associated to skin inflammation and malignant transformation. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008]., [RefSeq]; Unmasking early colorectal cancer clues: in silico and in vitro investigation of downregulated IGF2, SOCS1, MLH1, and CACNA1G in SSA polyps. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 22, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O15097;Q9NSA7", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0005159 insulin-like growth factor receptor binding;GO:0004860 protein kinase inhibitor activity;GO:0005126 cytokine receptor binding;GO:0019210 kinase inhibitor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination;GO:0019221 cytokine-mediated signaling pathway;GO:0046426 negative regulation of receptor signaling pathway via JAK-STAT", "synthesized_glycan_count": 0, "hit_score": 37.2, "record_id": "O15524-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P1W8-1", "uniprot_id": [ { "id": "SIRPG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P1W8", "type": "external" } ], "mass": 42498.0, "length": 387, "protein_name": "Signal-regulatory protein gamma", "gene_name": "SIRPG", "organism": "Human", "refseq_name": "signal-regulatory protein gamma isoform 3 precursor", "refseq_ac": [ { "id": "NP_001034597", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034597", "type": "external" } ], "gene_names_uniprotkb": "SIRPG; SIRPB2", "gene_names_refseq": "CD172g; SIRP-B2; SIRPB2; SIRPG; SIRPgamma; bA77C3.1", "protein_names_uniprotkb": "Signal-regulatory protein gamma; CD172 antigen-like family member B; SIRP-b2; SIRP-beta-2; SIRP-gamma; Signal-regulatory protein beta-2", "protein_names_refseq": "CD172 antigen-like family member B; CD172g antigen; SIRP beta 2; SIRP-gamma; signal-regulatory protein beta-2; signal-regulatory protein gamma isoform 3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:55423); (R-HSA-202733); (R-HSA-391160)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "10469599;10572074;10606205;10764623;11185750;11207550;11256994;11564780;11779189;11812992;12023008;12070135;12208882;12469115;12782713;14529530;14531999;14615387;15000751;15294972;15383453;15528364;15681301;15721307;1591491;16213021;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17070842;17099249;17116209;17167768;17172599;17322099;17369261;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18657508;19279206;19349973;19628875;21193412;21659548;23945545;24043627;24764293;2538457;25880248;28832583;28904123;29731959;30315122;32853219;33298915;34799406;35051231;37217939;38253038;468991;7509040;7521878;8163559;8166770;8314844;9052782;9062191;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "A novel member of the signal regulatory protein (SIRP) family- with unique characteristics from both alpha and beta genes- termed SIRPgamma, [RefSeq, PubMed]; Altered expression of SIRPgamma on the T-cells of relapsing remitting multiple sclerosis and type 1 diabetes patients could potentiate effector responses from T-cells. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Control of Splicing at SIRPG Modulates Risk of Type 1 Diabetes., [RefSeq, PubMed]; Probable immunoglobulin-like cell surface receptor. On binding with CD47, mediates cell-cell adhesion. Engagement on T-cells by CD47 on antigen-presenting cells results in enhanced antigen-specific T-cell proliferation and costimulates T-cell activation., [UniProtKB, PubMed]; The protein encoded by this gene is a member of the signal-regulatory protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "B1AKP6;Q5D051;Q5JV25;Q5MKL4;Q8WWA5;Q9NQK8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0022409 positive regulation of cell-cell adhesion;GO:0007155 cell adhesion;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9P1W8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92835-1", "uniprot_id": [ { "id": "SHIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92835", "type": "external" } ], "mass": 133292.0, "length": 1189, "protein_name": "Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1", "gene_name": "INPP5D", "organism": "Human", "refseq_name": "phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 isoform a", "refseq_ac": [ { "id": "NP_001017915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017915", "type": "external" } ], "gene_names_uniprotkb": "INPP5D; SHIP1; SHIP", "gene_names_refseq": "INPP5D; SHIP-1; SHIP1; SHIP; SIP-145; hp51CN; p150Ship", "protein_names_uniprotkb": "Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1; 3.1.3.36; 3.1.3.56; 3.1.3.86; Inositol polyphosphate-5-phosphatase D; Inositol polyphosphate-5-phosphatase of 145 kDa; Phosphatidylinositol 4,5-bisphosphate 5-phosphatase; SH2 domain-containing inositol 5'-phosphatase 1; SH2 domain-containing inositol phosphatase 1; SHIP-1; SIP-145; hp51CN; p150Ship", "protein_names_refseq": "SH2 domain-containing inositol 5'-phosphatase 1; inositol polyphosphate-5-phosphatase, 145kDa; phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 isoform a; phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1; phosphatidylinositol 4,5-bisphosphate 5-phosphatase; signaling inositol polyphosphate 5 phosphatase SIP-145; signaling inositol polyphosphate phosphatase SHIP II", "tax_id": 9606, "disease": "Paget's disease of bone (Disease Ontology:DOID:5408); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:3635); (R-HSA-1660499); (R-HSA-1855204); (R-HSA-202424); (R-HSA-210990); (R-HSA-912526); (R-HSA-9680350)", "pathway_count": 7, "publication_count": 268, "publication_id_list": "10194451;10207047;10224048;10229804;10350061;10425179;10455108;10555148;10559940;10570274;10593988;10698680;10716940;10753883;10764818;10805725;10822173;10858437;10866302;10982827;11001876;11022047;11022048;11042108;11084340;11118617;11237011;11279162;11302699;11340297;11349134;11358993;11604140;11676921;11733541;11877430;11884229;11909533;11923287;12101241;12118066;12223481;12324459;12421919;12422219;12473184;12529653;12536145;12646134;12660731;12747803;12808147;12847086;12882960;1333955;1334462;14514672;14516276;14617813;1465135;14660569;15037625;15080793;15107860;15122200;15125833;15135396;15140260;15145317;15316017;15371334;15464023;15474001;15541657;15579586;15592455;15702972;15716355;15790568;15797027;15840652;16056267;16107206;16154996;16356853;16356855;16399794;1644792;16476736;16497976;16522682;16612002;16682172;16914545;16978534;16979564;17008356;17047224;17072321;17135271;1718960;17245604;17363905;17468049;17496917;17548359;17651088;17728323;18077418;18083107;18093523;18467591;18753295;19038970;19179337;19843936;19896968;20489731;20534812;20933011;21049007;21155837;21204784;21864674;2196173;21972290;22037487;22153499;22483114;22544926;22645359;22647598;23481700;23519112;23758345;24275569;24366607;24607955;24714562;24715725;24890514;25495341;2550068;25576301;25880248;26029847;26154972;26235028;26728094;26768311;26992070;27543614;27846572;27920218;28218747;28228285;2841328;28467828;28832583;28834231;28860189;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30059200;30192525;30315122;30410026;30429286;30524438;31154438;31217245;31530632;31844290;31848261;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33633747;33717175;33912179;33936100;34211107;34357683;34509645;34561969;34932366;35051231;35154160;35561310;35580925;36241641;36284347;37938771;38309262;38613944;39176091;40914422;40969890;7479848;7597091;7608176;7624799;7681396;7721860;7737969;7761412;7890667;8084588;8294403;8355686;8407970;8454637;8530101;8550590;8601309;8662638;8681945;8723348;8769125;8874179;8981370;9054388;9058707;9094719;9099679;9108392;9113989;9211928;9225065;9252186;9252369;9286278;9295334;9360711;9362451;9367159;9428629;9430698;9514948;9516481;9524259;9593664;9660759;9660833;9687533;9774457;9811831;9830063;9885561;9990853", "class_list": "", "function": "Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways (PubMed:10764818, PubMed:8723348, PubMed:8769125). Also, is able to hydrolyze the 5-phosphate of phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P3), 1D-myo-inositol 1,4,5-trisphosphate and inositol 1,3,4,5-tetrakisphosphate (PubMed:10764818, PubMed:40969890, PubMed:8769125, PubMed:9108392). Acts as a negative regulator of B-cell antigen receptor signaling. Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Acts as a negative regulator of myeloid cell proliferation/survival and chemotaxis, mast cell degranulation, immune cells homeostasis, integrin alpha-IIb/beta-3 signaling in platelets and JNK signaling in B-cells. Regulates proliferation of osteoclast precursors, macrophage programming, phagocytosis and activation and is required for endotoxin tolerance. Involved in the control of cell-cell junctions, CD32a signaling in neutrophils and modulation of EGF-induced phospholipase C activity (PubMed:16682172). Key regulator of neutrophil migration, by governing the formation of the leading edge and polarization required for chemotaxis. Modulates FCGR3/CD16-mediated cytotoxicity in NK cells. Mediates the activin/TGF-beta-induced apoptosis through its Smad-dependent expression., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Potentially functional variants of INPP5D and EXOSC3 in immunity B cell-related genes are associated with non-small cell lung cancer survival. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of inositol 5-phosphatase activity by the C2 domain of SHIP1 and SHIP2., [RefSeq, PubMed]; SHIP inhibition mediates select TREM2-induced microglial functions., [RefSeq, PubMed]; The identification of SHIP1 as a nuclear inositol 5 phosphatase adds another member of the phosphoinositide and inositol modulating molecules to the emerging network of inositide signaling in the nucleus., [RefSeq, PubMed]; This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Deficiencies in the encoded protein, SHIP1, have been associated with Inflammatory Bowel Disease types such as Crohn's Disease and Ulcerative Colitis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2020]., [RefSeq]; This review summarizes how SHIP participates in normal immune physiology or the pathologies that result when SHIP is mutated. SHIP can have either inhibitory or activating roles in cell signaling. Review article, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "O00145;Q13544;Q13545;Q6P5A4;Q92656;Q9UE80", "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": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.64", "type": "external" }, { "id": "3.1.3.86", "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": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.1.134", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.134", "type": "external" }, { "id": "2.7.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.159", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" } ], "go_molecular_function": "GO:0016314 phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity;GO:0017124 SH3 domain binding;GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity;GO:0004445 inositol-polyphosphate 5-phosphatase activity;GO:0052659 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0007165 signal transduction;GO:0006915 apoptotic process;GO:0050852 T cell receptor signaling pathway;GO:0050776 regulation of immune response;GO:0006796 phosphate-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 27.7, "record_id": "Q92835-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N0T1-1", "uniprot_id": [ { "id": "RBIS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N0T1", "type": "external" } ], "mass": 11456.0, "length": 100, "protein_name": "Ribosomal biogenesis factor", "gene_name": "RBIS", "organism": "Human", "refseq_name": "ribosomal biogenesis factor isoform 1", "refseq_ac": [ { "id": "NP_001093140", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093140", "type": "external" } ], "gene_names_uniprotkb": "RBIS; C8orf59", "gene_names_refseq": "C8orf59; RBIS", "protein_names_uniprotkb": "Ribosomal biogenesis factor", "protein_names_refseq": "ribosomal biogenesis factor isoform 1; ribosome biogenesis factor identified in screen; uncharacterized protein C8orf59", "tax_id": 9606, "disease": "", "pathway": " (hsa:401466)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;19608861;22645359;23186163;23481700;24715725;25576301;26154972;26711351;26728094;26992070;27846572;27893789;27920218;28218747;28649982;28832583;28834231;28904123;29242379;29557506;29632711;29786170;30315122;30429286;30524438;31154438;31217245;31844290;32157095;32350084;32387766;32897882;32938616;33141586;33298915;33592498;33633747;33691108;33936100;33968037;34087483;34171305;34211107;35051231;35251023;35580925;36241641;37217939", "class_list": "", "function": "Trans-acting factor in ribosome biogenesis required for efficient 40S and 60S subunit production., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RXE7;E5RFW5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0042254 ribosome biogenesis", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q8N0T1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P83876-1", "uniprot_id": [ { "id": "TXN4A_HUMAN", "url": "https://www.uniprot.org/uniprot/P83876", "type": "external" } ], "mass": 16786.0, "length": 142, "protein_name": "Thioredoxin-like protein 4A", "gene_name": "TXNL4A", "organism": "Human", "refseq_name": "thioredoxin-like protein 4A isoform 2", "refseq_ac": [ { "id": "NP_001290400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290400", "type": "external" } ], "gene_names_uniprotkb": "TXNL4A; DIM1; TXNL4", "gene_names_refseq": "BMKS; DIB1; DIM1; SNRNP15; TXNL4A; TXNL4; U5-15kD", "protein_names_uniprotkb": "Thioredoxin-like protein 4A; DIM1 protein homolog; Spliceosomal U5 snRNP-specific 15 kDa protein; Thioredoxin-like U5 snRNP protein U5-15kD", "protein_names_refseq": "DIM1 protein homolog; spliceosomal U5 snRNP-specific 15 kDa protein; thioredoxin-like 4; thioredoxin-like U5 snRNP protein U5-15kD; thioredoxin-like protein 4A isoform 2", "tax_id": 9606, "disease": "Burn-McKeown syndrome (Disease Ontology:DOID:0080695); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:10907); (R-HSA-72163); (R-HSA-72165); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 159, "publication_id_list": "10207048;10610776;10882114;11014198;11015569;11054566;11101529;11233976;11237011;11333026;11607023;11747608;11991638;12176931;12411573;12414731;12477934;12911302;14519844;14625303;14713954;14762106;15084397;16314458;16723661;16809785;17095540;17332742;17467737;17606899;17940139;18322460;18593880;18669648;19052544;19103666;19165350;19536130;19690332;20423332;20858735;20980672;21209280;21536652;2176635;21911577;22110043;22365833;22424782;22544926;22959432;22961380;23222130;23236153;23345524;23481700;24196718;24304693;24448447;24714562;24715725;24737827;24781215;24914973;2524422;25434003;25555158;2558966;25880248;26092250;26154972;26375851;26385511;26420826;26912367;26969736;26992070;27108190;27377154;27459055;27510544;27683217;28062851;28076346;28228285;28502770;28781166;28834231;28904123;29301961;29351928;29360106;29361316;29557506;2963332;29902443;30192525;30315122;30315277;30429286;30599162;30705154;30728453;30765414;30779550;30975767;31409651;31844290;31848261;32157095;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33141586;33177556;33243851;33298915;33446560;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34301950;34405274;34509645;34713892;34822310;35051231;35215846;35385551;35561310;35580925;36010968;36215666;36241641;3757028;40596516;8566756;8608946;8835860;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome., [RefSeq, PubMed]; Plays a role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex)., [UniProtKB, PubMed, PubMed, PubMed]; Reporter gene and in vivo assays showed that the promoter deletions led to reduced expression of TXNL4A. Depletion of TXNL4A (Dib1) in yeast demonstrated reduced assembly of the tri-snRNP complex., [RefSeq, PubMed]; The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "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": "B2RC18;O14834", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex;GO:0005682 U5 snRNP;GO:0046540 U4/U6 x U5 tri-snRNP complex", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0051301 cell division;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome;GO:0000245 spliceosomal complex assembly", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "P83876-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NNX6-1", "uniprot_id": [ { "id": "CD209_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NNX6", "type": "external" } ], "mass": 45775.0, "length": 404, "protein_name": "CD209 antigen", "gene_name": "CD209", "organism": "Human", "refseq_name": "CD209 antigen isoform 5", "refseq_ac": [ { "id": "NP_001138365", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138365", "type": "external" } ], "gene_names_uniprotkb": "CD209; CLEC4L", "gene_names_refseq": "CD209; CDSIGN; CLEC4L; DC-SIGN1; DC-SIGN; hDC-SIGN", "protein_names_uniprotkb": "CD209 antigen; C-type lectin domain family 4 member L; DC-SIGN1; DC-SIGN; Dendritic cell-specific ICAM-3-grabbing non-integrin 1", "protein_names_refseq": "C-type lectin domain family 4 member L; CD209 antigen isoform 5; CD209 antigen; HIV gpl20-binding protein; dendritic cell-specific ICAM-3-grabbing non-integrin 1; dendritic cell-specific intercellular adhesion molecule-3-grabbing non-integrin; dendritic cell-specific intracellular adhesion molecules (ICAM)-3 grabbing non-integrin", "tax_id": 9606, "disease": "extrapulmonary tuberculosis (Disease Ontology:DOID:0050598); rheumatic heart disease (Disease Ontology:DOID:0050827); Coronavirus infectious disease (Disease Ontology:DOID:0080599); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); dengue disease (Disease Ontology:DOID:12205); dengue hemorrhagic fever (Disease Ontology:DOID:12206); aspergillosis (Disease Ontology:DOID:13564); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); tuberculosis (Disease Ontology:DOID:399); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); pulmonary hypertension (Disease Ontology:DOID:6432); Mycobacterium tuberculosis, susceptibility (MONDO:MONDO:0000070); dengue virus, susceptibility to (MONDO:MONDO:0013713)", "pathway": " (hsa:30835); (R-HSA-5621575); (R-HSA-8851680); (R-HSA-9833110); (R-HSA-9918485)", "pathway_count": 5, "publication_count": 116, "publication_id_list": "10721994;10721995;10975799;11017109;11237011;11257134;11337487;11384997;11607032;11739956;11799126;11825572;11859097;12433371;12456660;12502743;12502850;12504546;12515809;12574325;12628924;12682107;12692233;12949494;12960229;14702039;14709546;14970226;14976261;15057824;15098107;15140961;1518869;15195147;15371595;15479853;15489334;15507651;15520807;15838506;16092920;16135789;16246332;16379498;16415006;16434485;16469696;16537615;16751379;16816373;17150970;17462920;17785817;18266465;18385332;18420935;18796707;19122653;19197368;19531472;20208008;20359516;20363321;20410276;20944003;21191006;21203928;21767814;22090124;22440960;22496863;22700724;23084921;23360500;23658209;23966408;24036152;24074594;24156700;24623090;24703779;24749535;25637025;25657647;25854864;26056282;26212330;26468529;27832191;29557506;29610346;29742433;31469191;31720911;32387766;32502341;32607506;32660065;32983136;33043033;34464958;34502134;34509645;34652144;35051231;35580925;36102648;36215666;37074911;37844099;37938771;38757764;38771131;7517401;9660950;9931503", "class_list": "glycogene", "function": "(Microbial infection) Acts as an attachment receptor for Cytomegalovirus., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as an attachment receptor for Dengue virus., [UniProtKB, PubMed]; (Microbial infection) Acts as an attachment receptor for Ebolavirus., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; (Microbial infection) Acts as an attachment receptor for HCV., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as an attachment receptor for HIV-1 and HIV-2., [UniProtKB, PubMed, PubMed, PubMed]; (Microbial infection) Acts as an attachment receptor for Herpes simplex virus 1., [UniProtKB, PubMed]; (Microbial infection) Acts as an attachment receptor for Influenzavirus A., [UniProtKB, PubMed]; (Microbial infection) Acts as an attachment receptor for Japanese encephalitis virus., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; (Microbial infection) Acts as an attachment receptor for Lassa virus (PubMed:23966408). Acts as an attachment receptor for Marburg virusn., [UniProtKB, PubMed]; (Microbial infection) Acts as an attachment receptor for Measles virus., [UniProtKB, PubMed]; (Microbial infection) Acts as an attachment receptor for Respiratory syncytial virus., [UniProtKB, PubMed]; (Microbial infection) Acts as an attachment receptor for Rift valley fever virus and uukuniemi virus., [UniProtKB, PubMed]; (Microbial infection) Acts as an attachment receptor for SARS-CoV., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; (Microbial infection) Acts as an attachment receptor for West-nile virus., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; (Microbial infection) Probably recognizes in a calcium-dependent manner high mannose N-linked oligosaccharides in a variety of bacterial pathogen antigens, including Leishmania pifanoi LPG, Lewis-x antigen in Helicobacter pylori LPS, mannose in Klebsiella pneumonae LPS, di-mannose and tri-mannose in Mycobacterium tuberculosis ManLAM and Lewis-x antigen in Schistosoma mansoni SEA (PubMed:16379498). Recognition of M.tuberculosis by dendritic cells occurs partially via this molecule (PubMed:16092920, PubMed:21203928)., [UniProtKB, PubMed, PubMed, PubMed]; Dendritic cell-specific intercellular adhesion molecule-3-grabbing nonintegrin (DC-SIGN) is a cellular receptor for delta inulin adjuvant., [RefSeq, PubMed]; On dendritic cells (DCs) it is a high affinity receptor for ICAM2 and ICAM3 by binding to mannose-like carbohydrates (PubMed:10721994, PubMed:10721995, PubMed:11017109, PubMed:12574325). May act as a DC rolling receptor that mediates transendothelial migration of DC presursors from blood to tissues by binding endothelial ICAM2 (PubMed:11017109). Forms a first contact between DC and resting T cell, througth ICAM3 binding, facilitating the downstream DC-T cell clustering process and DC-induced proliferation of resting T Cells (PubMed:10721994, PubMed:10721995)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Pathogen-recognition receptor expressed on the surface of immature dendritic cells (DCs) and involved in initiation of primary immune response. Thought to mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. The receptor returns to the cell membrane surface and the pathogen-derived antigens are presented to resting T-cells via MHC class II proteins to initiate the adaptive immune response., [UniProtKB, PubMed]; SARS-CoV-2 suppresses TLR4-induced immunity by dendritic cells via C-type lectin receptor DC-SIGN. Publication Status: Online-Only, [RefSeq, PubMed]; The CD209 -336A>G single nucleotide polymorphism affects its promoter activity and was associated with higher standardized LDH levels in Hong Kong Chinese on admission, which is an independent prognostic indicator for severe acute respiratory syndrome., [RefSeq, PubMed]; This gene encodes a C-type lectin that functions in cell adhesion and pathogen recognition. This receptor recognizes a wide range of evolutionarily divergent pathogens with a large impact on public health, including leprosy and tuberculosis mycobacteria, the Ebola, hepatitis C, HIV-1 and Dengue viruses, and the SARS-CoV acute respiratory syndrome coronavirus. The protein is organized into four distinct domains: a C-terminal carbohydrate recognition domain, a flexible tandem-repeat neck domain, a transmembrane region and an N-terminal cytoplasmic domain involved in internalization. This gene is closely related in terms of both sequence and function to a neighboring gene, CLEC4M (Gene ID: 10332), also known as L-SIGN. The two genes differ in viral recognition and expression patterns, with this gene showing high expression on the surface of dendritic cells. Polymorphisms in the neck region are associated with protection from HIV-1 infection, while single nucleotide polymorphisms in the promoter of this gene are associated with differing resistance and susceptibility to and severity of infectious disease, including rs4804803, which is associated with SARS severity. [provided by RefSeq, May 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 565, "reported_interactions": 0, "missing_score": 9630, "biomarker_type": "", "glycan_count": 4, "disease_count": 15, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8KAM4;A8MVQ9;G5E9C4;Q2TB19;Q96QP7;Q96QP8;Q96QP9;Q96QQ0;Q96QQ1;Q96QQ2;Q96QQ3;Q96QQ4;Q96QQ5;Q96QQ6;Q96QQ7;Q96QQ8", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0042605 peptide antigen binding;GO:0030246 carbohydrate binding;GO:0001618 virus receptor activity;GO:0005537 D-mannose binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0006955 immune response;GO:0035556 intracellular signal transduction;GO:0045087 innate immune response;GO:0075733 intracellular transport of virus", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q9NNX6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000000.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VK4-1", "uniprot_id": [ { "id": "ZN410_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VK4", "type": "external" } ], "mass": 52113.0, "length": 478, "protein_name": "Zinc finger protein 410", "gene_name": "ZNF410", "organism": "Human", "refseq_name": "zinc finger protein 410 isoform a", "refseq_ac": [ { "id": "NP_001229853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229853", "type": "external" } ], "gene_names_uniprotkb": "ZNF410; APA1", "gene_names_refseq": "APA-1; APA1; ZNF410", "protein_names_uniprotkb": "Zinc finger protein 410; Another partner for ARF 1", "protein_names_refseq": "another partner for ARF 1; clones 23667 and 23775 zinc finger protein; zinc finger protein 410 isoform a; zinc finger protein APA-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57862)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12370286;18470879;23481700;24714562;25892735;26992070;27920218;28218747;28228285;28832583;28904123;29242379;29437277;29493099;29557506;29769354;30078215;30315122;31154438;31844290;31848261;31998317;32157095;32161166;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33301730;33717175;33859416;33936100;33968037;35051231", "class_list": "", "function": "APA1 has a role in inducing extracellular matrix remodeling genes, [RefSeq, PubMed]; The HG-stimulated proliferative capacity was abolished upon decreasing O-GlcNAcylation, which could be reversed gradually by the simultaneous overexpression of APA1 and GJC1. Therefore, GJC1 could be a potential target for preventing liver cancer in patients with diabetes., [RefSeq, PubMed]; Transcription factor that binds to the sequence motif 5'-CATCCCATAATA-3', and is specifically required to silence expression of fetal hemoglobin in adult erythroid cells (PubMed:33301730, PubMed:33859416). Prevents expression of fetal hemoglobin genes HBG1 and HBG2 through CHD4: acts as a direct transcriptional activator of CHD4, a central component of the NuRD complex that represses transcription of fetal hemoglobin genes HBG1 and HBG2 in erythroid cells (PubMed:33301730, PubMed:33859416). May also activate transcription of matrix-remodeling genes such as MMP1 during fibroblast senescence (PubMed:12370286). May activate transcription of the gap junction gene GJC1, perhaps in response to increasing glucose (PubMed:30078215). However, recent studies suggest that ZNF410 is dedicated to regulate expression of a single gene: CHD4 (PubMed:33301730, PubMed:33859416)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; VDR polymorphism genotypes and haplotypes did not directly alter recurrence risk, but the reduction in risk associated with high dairy product intake was confined to individuals with ApaI aA/AA genotype., [RefSeq, PubMed]; ZNF410 Uniquely Activates the NuRD Component CHD4 to Silence Fetal Hemoglobin Expression., [RefSeq, PubMed]; ZNF410 represses fetal globin by singular control of CHD4., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DDV5;B4DR78;O00153;Q9BQ19", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0003712 transcription coregulator activity;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010629 negative regulation of gene expression;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q86VK4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48509-1", "uniprot_id": [ { "id": "CD151_HUMAN", "url": "https://www.uniprot.org/uniprot/P48509", "type": "external" } ], "mass": 28295.0, "length": 253, "protein_name": "CD151 antigen", "gene_name": "CD151", "organism": "Human", "refseq_name": "CD151 antigen", "refseq_ac": [ { "id": "NP_001034579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034579", "type": "external" } ], "gene_names_uniprotkb": "CD151; TSPAN24", "gene_names_refseq": "CD151; EBS7; GP27; MER2; PETA-3; RAPH; SFA1; TSPAN24", "protein_names_uniprotkb": "CD151 antigen; GP27; Membrane glycoprotein SFA-1; PETA-3; Platelet-endothelial tetraspan antigen 3; Tetraspanin-24; Tspan-24", "protein_names_refseq": "CD151 antigen (Raph blood group); CD151 antigen; hemidesmosomal tetraspanin CD151; membrane glycoprotein SFA-1; platelet surface glycoprotein gp27; platelet-endothelial cell tetraspan antigen 3; platelet-endothelial tetraspan antigen 3; tetraspanin-24; tspan-24", "tax_id": 9606, "disease": "epidermolysis bullosa simplex (Disease Ontology:DOID:4644); epidermolysis bullosa simplex 7, with nephropathy and deafness (MONDO:MONDO:0012190)", "pathway": " (hsa:977); (R-HSA-2022090); (R-HSA-446107)", "pathway_count": 3, "publication_count": 65, "publication_id_list": "10596943;10637308;10811835;10966814;11181065;11237011;11907260;12482924;12802069;1400327;14602708;15265795;15837520;17045834;18508921;18713730;18852263;19242489;19693541;22843693;2307289;23090970;24190977;24553111;24723389;25502872;26992070;27147745;27993971;28467828;29242379;29331515;29393594;30833945;31154438;31488507;31844290;32350084;32488085;32938616;32978478;33592498;33936100;33968037;34078123;34171305;34357683;34433824;34725712;35051231;35067832;35154160;35251023;35580925;36010968;37094754;38418926;38557119;38665916;38813923;7632941;8207089;8627808;9008168;9856810", "class_list": "", "function": "(Microbial infection) Plays a role in human cytomegalovirus entry into host cell by contributing to entry receptor binding, membrane fusion, or release of the capsid., [UniProtKB, PubMed]; (Microbial infection) Plays a role in human papillomavirus 16/HPV-16 endocytosis upon binding to cell surface receptor., [UniProtKB, PubMed]; CD151 Maintains Endolysosomal Protein Quality to Inhibit Vascular Inflammation., [RefSeq, PubMed]; CD151 expression marks atrial- and ventricular- differentiation from human induced pluripotent stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; CD151 is essential for the proper assembly of the glomerular and tubular basement membrane in kidney, has functional significance in the skin, is probably a component of the inner ear, and could play a role in erythropoiesis, [RefSeq, PubMed]; Exploring the role of CD151 in the tumor immune microenvironment: Therapeutic and clinical perspectives. Review article, [RefSeq, PubMed]; INHIBITION OF INTEGRIN VLA-3 AND TETRASPANIN CD151 PROTECTS AGAINST NEUTROPHIL-MEDIATED ENDOTHELIAL DAMAGE., [RefSeq, PubMed]; Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Plays a role in various cellular and molecular mechanism through its association with both integrin and non-integrin proteins. These interactions facilitate critical cellular functions, including cell-to-cell communication, wound healing, platelet aggregation, trafficking, cell motility, and angiogenesis (PubMed:17045834, PubMed:24723389, PubMed:31488507). Via interaction with JAM-A/F11R and integrin ITGA3:ITGB1, promotes the recruitment of signaling molecules such as RAC1, CDC42 and RhoGTPases to facilitate the polarization of epithelial cells and the reorganization of the actin cytoskeleton, which are critical steps in cell migration process (PubMed:22843693, PubMed:35067832). Regulates the glycosylation pattern of ITGA3:ITGB1 thereby modulating its activity (PubMed:18852263). Plays an essential role in the maintenance of central laminin-binding integrin ITGA6:ITGB4-containing adhesion complexes (PubMed:31488507). Essential for the proper assembly of the glomerular and tubular basement membranes in kidney (PubMed:15265795). Contributes to T-cell activation by modulating integrin signaling leading to activation of downstream targets PTK2 and MAPK1/MAPK3 (PubMed:24723389)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 9, "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": "A8KAK8;E9PI15;Q14826;Q86U54;Q96TE3", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0016477 cell migration;GO:0030335 positive regulation of cell migration;GO:0045807 positive regulation of endocytosis;GO:0044319 wound healing, spreading of cells", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P48509-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53801-1", "uniprot_id": [ { "id": "PTTG_HUMAN", "url": "https://www.uniprot.org/uniprot/P53801", "type": "external" } ], "mass": 20324.0, "length": 180, "protein_name": "Pituitary tumor-transforming gene 1 protein-interacting protein", "gene_name": "PTTG1IP", "organism": "Human", "refseq_name": "pituitary tumor-transforming gene 1 protein-interacting protein isoform 2 precursor", "refseq_ac": [ { "id": "NP_001273751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273751", "type": "external" } ], "gene_names_uniprotkb": "PTTG1IP; C21orf1; C21orf3", "gene_names_refseq": "C21orf1; C21orf3; PBF; PTTG1IP1; PTTG1IP", "protein_names_uniprotkb": "Pituitary tumor-transforming gene 1 protein-interacting protein; PBF; PTTG-binding factor; Pituitary tumor-transforming gene protein-binding factor", "protein_names_refseq": "PTTG-binding factor; pituitary tumor-transforming 1 interacting protein; pituitary tumor-transforming gene 1 protein-interacting protein isoform 2 precursor; pituitary tumor-transforming gene 1 protein-interacting protein; pituitary tumor-transforming gene protein-binding factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:754)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "10781616;11237011;15178645;15190888;17016520;17389395;18083107;19901323;23090970;23678037;24190977;25418920;25576301;25645385;26811146;26929215;26992070;27603901;27846572;28832583;29242379;29314611;29557506;29741879;29786170;30192525;30444036;30569723;31154438;31611695;32157095;32265295;32387766;32502341;32938616;33043033;33141586;33392160;33592498;33968037;34019948;34357683;35051231;35289036;35933079;36383136;37074911;37340703;40596516;9570958", "class_list": "", "function": "CircPTTG1IP knockdown suppresses rheumatoid arthritis progression by targeting miR-431-5p/FSTL1 axis., [RefSeq, PubMed]; May facilitate PTTG1 nuclear translocation., [UniProtKB]; PBF is a novel AR target gene and plays a role in androgen-induced proliferation and metastatic functions, [RefSeq, PubMed]; PTTG expression was higher in malignant cells than in primary astrocytes, whereas PTTG-binding factor was not in astrocytoma, [RefSeq, PubMed]; Sp4 Regulates PTTG1IP Gene Transcription and Expression., [RefSeq, PubMed]; This gene encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression of this protein and PTTG1 induces transcriptional activation of basic fibroblast growth factor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 27, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RDP7;D3DSL9;Q9NS09", "ec_number_list": [], "go_molecular_function": "GO:0002039 p53 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0031398 positive regulation of protein ubiquitination;GO:1902254 negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator;GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P53801-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y228-1", "uniprot_id": [ { "id": "T3JAM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y228", "type": "external" } ], "mass": 63626.0, "length": 551, "protein_name": "TRAF3-interacting JNK-activating modulator", "gene_name": "TRAF3IP3", "organism": "Human", "refseq_name": "TRAF3-interacting JNK-activating modulator isoform 2", "refseq_ac": [ { "id": "NP_001274683", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274683", "type": "external" } ], "gene_names_uniprotkb": "TRAF3IP3; T3JAM", "gene_names_refseq": "T3JAM; TRAF3IP3", "protein_names_uniprotkb": "TRAF3-interacting JNK-activating modulator; TRAF3-interacting protein 3", "protein_names_refseq": "TRAF3 interacting Jun N terminal kinase (JNK) activating modulator; TRAF3-interacting JNK-activating modulator isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:80342)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;14572659;16959974;17868742;24366607;24714562;25418920;25505266;25548167;25880248;25892735;26154972;26195727;27920218;28063628;28218747;28228285;28514659;28832583;28904123;29242379;29437277;29493099;29508533;29632046;30115741;30315122;30573680;31390091;31844290;32357974;32366851;32502341;32983136;33137956;33298915;33444836;33503336;33717175;34932366;35132862;35580925;36397361;40914422", "class_list": "", "function": "Adapter protein that plays essential roles in both innate and adaptive immunity. Plays a crucial role in the regulation of thymocyte development (PubMed:26195727). Mechanistically, mediates TCR-stimulated activation through recruiting MAP2K1/MEK1 to the Golgi and, thereby, facilitating the interaction of MAP2K1/MEK1 with its activator BRAF (PubMed:26195727). Also plays an essential role in regulatory T-cell stability and function by recruiting the serine-threonine phosphatase catalytic subunit (PPP2CA) to the lysosome, thereby facilitating the interaction of PP2Ac with the mTORC1 component RPTOR and restricting glycolytic metabolism (PubMed:30115741). Positively regulates TLR4 signaling activity in macrophage-mediated inflammation by acting as a molecular clamp to facilitate LPS-induced translocation of TLR4 to lipid rafts (PubMed:30573680). In response to viral infection, facilitates the recruitment of TRAF3 to MAVS within mitochondria leading to IRF3 activation and interferon production (PubMed:31390091). However, participates in the maintenance of immune homeostasis and the prevention of overzealous innate immunity by promoting 'Lys-48'-dependent ubiquitination of TBK1 (PubMed:32366851)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; High TRAF3IP3 Level Predicts Poor Prognosis of Patients with Gliomas., [RefSeq, PubMed]; Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia., [RefSeq, PubMed]; Secondary Genome-Wide Association Study Using Novel Analytical Strategies Disentangle Genetic Components of Cleft Lip and/or Cleft Palate in 1q32.2. Publication Status: Online-Only, [RefSeq, PubMed]; TRAF3IP3 stimulated cell growth by modulating the c-Jun N-terminal kinase (JNK) pathway, [RefSeq, PubMed]; The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]., [RefSeq]; The variants in PTPRB, TRAF3IP3, and DISC1 genes were associated with Graves' disease in the Chinese population., [RefSeq, PubMed]; This paper provides an alignment of the mouse and human proteins., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "A1L464;A6NIU9;Q2YDB5;Q4VY06;Q7Z706", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0030674 protein-macromolecule adaptor activity;GO:0044198 zf-TRAF domain binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005886 plasma membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0035458 cellular response to interferon-beta;GO:0032481 positive regulation of type I interferon production;GO:0032728 positive regulation of interferon-beta production;GO:0002753 cytoplasmic pattern recognition receptor signaling pathway;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9Y228-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08722-1", "uniprot_id": [ { "id": "CD47_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08722", "type": "external" } ], "mass": 35214.0, "length": 323, "protein_name": "Leukocyte surface antigen CD47", "gene_name": "CD47", "organism": "Human", "refseq_name": "leukocyte surface antigen CD47 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001768", "type": "external" } ], "gene_names_uniprotkb": "CD47; MER6", "gene_names_refseq": "CD47; IAP; MER6; OA3", "protein_names_uniprotkb": "Leukocyte surface antigen CD47; Antigenic surface determinant protein OA3; IAP; Integrin-associated protein; Protein MER6", "protein_names_refseq": "CD47 antigen (Rh-related antigen, integrin-associated signal transducer); CD47 glycoprotein; antigen identified by monoclonal antibody 1D8; antigenic surface determinant protein OA3; integrin associated protein; leukocyte surface antigen CD47 isoform 1 precursor; leukocyte surface antigen CD47", "tax_id": 9606, "disease": "", "pathway": " (hsa:961); (R-HSA-202733); (R-HSA-216083); (R-HSA-391160); (R-HSA-6798695)", "pathway_count": 5, "publication_count": 190, "publication_id_list": "10.1101/2023.09.13.557529;10209034;10366422;10438935;10469599;10543983;10549293;10572074;10593924;10605720;10606205;10640428;10673366;10713152;10764623;10811134;10982388;11158588;11207550;11237011;11256994;11454874;11509594;11518510;11564780;11572855;11713259;11779189;11812992;11980922;12023008;12070135;12208882;12469115;12496264;12585966;12682293;12782713;12807887;1394148;14529530;14531999;14615387;15000751;15240572;15294972;15330449;15345499;15383453;15383545;15528364;15681301;15713743;15721307;1588291;15899827;1591491;15917238;16002701;16051604;16213021;16239428;16258728;16297198;16585556;16691243;16731529;16737840;16754661;16783819;16933105;17064312;17070842;17099249;17116209;17167768;17172599;17322099;17339034;17369261;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;17968485;18657508;18710925;18775695;19004835;19159218;19279206;19349973;19502598;19628875;20033473;2010551;20705068;21193412;21659548;22079249;22539938;22884367;23090970;23374253;23650620;23945545;24043627;24190977;24764293;2538457;25502872;27742621;28228285;28832583;29242379;29493099;29557506;29671580;29741879;29769354;30315122;30626607;31020640;31530632;31844290;32119511;32161166;32350084;32502341;32679764;32938616;33691108;34019948;34078123;34357683;34433824;34725712;35051231;35251023;37074911;37340703;38532108;38665916;38693120;38749193;38783333;39121194;39201643;40596516;40930100;468991;7505120;7509040;7521878;7525578;7541634;7542249;7559467;7685013;7691831;7998989;8118028;8163559;8166770;8314844;8344274;8550562;8560266;8692836;8798654;8838667;8910476;9052782;9062191;9169774;9242610;9251239;9295288;9382878;9443892;9565552;9693095;9763524;9858236", "class_list": "", "function": "Adhesive protein that mediates cell-to-cell interactions (PubMed:11509594, PubMed:15383453). Acts as a receptor for thrombospondin THBS1 and as modulator of integrin signaling through the activation of heterotrimeric G proteins (PubMed:19004835, PubMed:7691831, PubMed:8550562). Involved in signal transduction, cardiovascular homeostasis, inflammation, apoptosis, angiogenesis, cellular self-renewal, and immunoregulation (PubMed:11509594, PubMed:15383453, PubMed:19004835, PubMed:27742621, PubMed:32679764, PubMed:7691831, PubMed:8550562). Plays a role in modulating pulmonary endothelin EDN1 signaling (PubMed:27742621). Modulates nitrous oxide (NO) signaling, in response to THBS1, hence playing a role as a pressor agent, supporting blood pressure (By similarity). Plays an important role in memory formation and synaptic plasticity in the hippocampus (By similarity). Receptor for SIRPA, binding to which prevents maturation of immature dendritic cells and inhibits cytokine production by mature dendritic cells (PubMed:11509594). Interaction with SIRPG mediates cell-cell adhesion, enhances superantigen-dependent T-cell-mediated proliferation and costimulates T-cell activation (PubMed:15383453). Positively modulates FAS-dependent apoptosis in T-cells, perhaps by enhancing FAS clustering (By similarity). Plays a role in suppressing angiogenesis and may be involved in metabolic dysregulation during normal aging (PubMed:32679764). In response to THBS1, negatively modulates wound healing (By similarity). Inhibits stem cell self-renewal, in response to THBS1, probably by regulation of the stem cell transcription factors POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 (By similarity). May play a role in membrane transport and/or integrin dependent signal transduction (PubMed:7691831). May prevent premature elimination of red blood cells (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Airway epithelial CD47 plays a critical role in inducing influenza virus-mediated bacterial super-infection. Publication Status: Online-Only, [RefSeq, PubMed]; BCMA/CD47-directed universal CAR-T cells exhibit excellent antitumor activity in multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; CD47 and IFT57 Are Colinear Genes That Are Highly Coexpressed in Most Cancers and Exhibit Parallel Cancer-Specific Correlations with Survival. Publication Status: Online-Only, [RefSeq, PubMed]; CD47-mediated immune evasion in early-stage lung cancer progression., [RefSeq, PubMed]; Co-targeting CD47 and VEGF elicited potent anti-tumor effects in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 86, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K198;D3DN59;Q53Y71;Q96A60", "ec_number_list": [], "go_molecular_function": "GO:0070053 thrombospondin receptor activity;GO:0098632 cell-cell adhesion mediator activity;GO:0086080 protein binding involved in heterotypic cell-cell adhesion;GO:0070051 fibrinogen binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0035579 specific granule membrane;GO:0070062 extracellular exosome;GO:0070821 tertiary granule membrane", "go_biological_process": "GO:0022409 positive regulation of cell-cell adhesion;GO:0060368 regulation of Fc receptor mediated stimulatory signaling pathway;GO:0001525 angiogenesis;GO:0006954 inflammatory response;GO:0007229 integrin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 28.3, "record_id": "Q08722-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19447-1", "uniprot_id": [ { "id": "ERCC3_HUMAN", "url": "https://www.uniprot.org/uniprot/P19447", "type": "external" } ], "mass": 89278.0, "length": 782, "protein_name": "General transcription and DNA repair factor IIH helicase/translocase subunit XPB", "gene_name": "ERCC3", "organism": "Human", "refseq_name": "general transcription and DNA repair factor IIH helicase/translocase subunit XPB isoform a", "refseq_ac": [ { "id": "NP_000113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000113", "type": "external" } ], "gene_names_uniprotkb": "ERCC3; XPBC; XPB", "gene_names_refseq": "BTF2; ERCC3; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB", "protein_names_uniprotkb": "General transcription and DNA repair factor IIH helicase/translocase subunit XPB; 5.6.2.4; BTF2 p89; Basic transcription factor 2 89 kDa subunit; DNA 3'-5' helicase/translocase XPB; DNA excision repair protein ERCC-3; DNA repair protein complementing XP-B cells; TFIIH 89 kDa subunit; TFIIH basal transcription factor complex 89 kDa subunit; TFIIH p89; TFIIH subunit XPB; Xeroderma pigmentosum group B-complementing protein", "protein_names_refseq": "DNA 3'-5' helicase/translocase XPB; DNA excision repair protein ERCC-3; DNA repair helicase; DNA repair protein complementing XP-B cells; TFIIH 89 kDa subunit; TFIIH basal transcription factor complex 89 kDa subunit; TFIIH basal transcription factor complex helicase XPB subunit; TFIIH subunit XPB; basic transcription factor 2 89 kDa subunit; excision repair cross-complementation group 3; excision repair cross-complementing rodent repair deficiency, complementation group 3; general transcription and DNA repair factor IIH helicase subunit XPB; general transcription and DNA repair factor IIH helicase/translocase subunit XPB isoform a; general transcription and DNA repair factor IIH helicase/translocase subunit XPB; xeroderma pigmentosum group B-complementing protein; xeroderma pigmentosum, complementation group B", "tax_id": 9606, "disease": "xeroderma pigmentosum (Disease Ontology:DOID:0050427); withdrawal disorder (Disease Ontology:DOID:0060001); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); xeroderma pigmentosum group B (Disease Ontology:DOID:0110850); trichothiodystrophy (Disease Ontology:DOID:0111866); photosensitive trichothiodystrophy 2 (Disease Ontology:DOID:0111869); Alzheimer's disease (Disease Ontology:DOID:10652); membranous glomerulonephritis (Disease Ontology:DOID:10976); asphyxia neonatorum (Disease Ontology:DOID:11088); leiomyoma (Disease Ontology:DOID:127); Down syndrome (Disease Ontology:DOID:14250); renovascular hypertension (Disease Ontology:DOID:1591); colon cancer (Disease Ontology:DOID:219); asthma (Disease Ontology:DOID:2841); Cockayne syndrome (Disease Ontology:DOID:2962); lung non-small cell carcinoma (Disease Ontology:DOID:3908); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:2071); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167160); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-167200); (R-HSA-167246); (R-HSA-427413); (R-HSA-5696395); (R-HSA-5696400); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-72086); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73863); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075)", "pathway_count": 30, "publication_count": 255, "publication_id_list": "10024882;10082553;10199401;10447254;10471499;10526214;10723029;10734143;10757782;10862089;10866664;10882074;10913176;10916156;10944529;10984493;11007478;11141066;11237011;11239393;11250901;11278856;11313498;11313499;11350971;11433015;11486021;11511374;11739720;11784853;11859374;11884399;11904382;11971958;11988847;12080057;12208738;12370301;12393749;12646563;12653964;12660172;12676794;12732143;1310361;14517266;14610093;14701750;14969726;15220921;1547496;15489290;15549133;15590680;15781865;15989964;16030353;16246722;16491090;16751180;16947863;16959974;17000769;17081983;17234882;17290000;17318177;17355984;17466625;17466626;17499042;17948053;17981804;18079701;18157150;18614043;19056823;19106100;19279666;1939271;1956789;19661379;19713942;19729311;19838300;19940136;19941815;19941824;19952111;20159561;20227374;20368362;20541997;20876134;21070792;2111438;21282463;2167179;22012619;22081108;22118460;22466610;22466611;22466612;22544926;22805593;22902626;22982363;22988298;23038248;23045548;23186163;23352696;23385459;23481700;23538671;23751493;23906714;23973375;24127601;24354960;24402227;2449431;24554720;24662513;24714562;25154395;25418920;25429106;25435140;25538220;25561469;25576301;25712099;25880248;25916849;26042670;26151477;26154972;26375851;26659056;26728094;26768311;26811146;26992070;27193682;27418187;27418309;27600516;27846572;27920218;2805069;28063628;28218747;28228285;28297668;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30192525;30315122;30410026;30429286;30484775;30894545;31154438;31253769;31844290;31848261;32157095;32355176;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33717175;33902107;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35154160;35494241;35561310;35580925;35947745;36010968;36241641;36284347;36472749;7151173;7491500;7559382;7597036;7601352;7660122;7660129;7660130;7700386;7724549;7801123;7853496;8078911;8156590;8157004;8304337;8330735;8370526;8465201;8490964;8663148;8692841;8876179;8946909;9012405;9063748;9130708;9256425;9326587;9353262;9405375;9450929;9489704;9512541;9582279;9699634;9716411;9765293;9771713;9790902;9852112;9857195;9875289", "class_list": "", "function": "ATP-dependent 3'-5' DNA helicase/translocase (PubMed:17466626, PubMed:27193682, PubMed:33902107, PubMed:8465201, PubMed:8663148). Binds dsDNA rather than ssDNA, unzipping it in a translocase rather than classical helicase activity (PubMed:27193682, PubMed:33902107). Component of the general transcription and DNA repair factor IIH (TFIIH) core complex (PubMed:10024882, PubMed:17466626, PubMed:8157004, PubMed:8465201). When complexed to CDK-activating kinase (CAK), involved in RNA transcription by RNA polymerase II. The ATPase activity of XPB/ERCC3, but not its helicase activity, is required for DNA opening; it may wrap around the damaged DNA wedging it open, causing localized melting that allows XPD/ERCC2 helicase to anchor (PubMed:10024882, PubMed:17466626). In transcription, TFIIH has an essential role in transcription initiation (PubMed:30894545, PubMed:8157004). When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape (PubMed:8157004). The ATP-dependent helicase activity of XPB/ERCC3 is required for promoter opening and promoter escape (PubMed:10024882). In transcription pre-initiation complexes induces and propagates a DNA twist to open DNA (PubMed:27193682, PubMed:33902107). Also involved in transcription-coupled nucleotide excision repair (NER) of damaged DNA (PubMed:17466626, PubMed:2111438, PubMed:8157004). In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The structure of the TFIIH transcription complex differs from the NER-TFIIH complex; large movements by XPD/ERCC2 and XPB/ERCC3 are stabilized by XPA (PubMed:31253769, PubMed:33902107). XPA retains XPB/ERCC3 at the 5' end of a DNA bubble (mimicking DNA damage) (PubMed:31253769)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Comprehensive analysis of ERCC3 prognosis value and ceRNA network in AML., [RefSeq, PubMed]; Differential dependencies of human RNA polymerase II promoters on TBP, TAF1, TFIIB and XPB., [RefSeq, PubMed]; This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 17, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53QM0", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.56", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" } ], "go_molecular_function": "GO:0043138 3'-5' DNA helicase activity;GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0003684 damaged DNA binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0097550 transcription preinitiation complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005675 transcription factor TFIIH holo complex;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0006281 DNA repair;GO:0006979 response to oxidative stress;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0009411 response to UV", "synthesized_glycan_count": 0, "hit_score": 25.6, "record_id": "P19447-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWQ4-3", "uniprot_id": [ { "id": "GPT2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWQ4", "type": "external" } ], "mass": 54260.0, "length": 482, "protein_name": "G patch domain-containing protein 2-like", "gene_name": "GPATCH2L", "organism": "Human", "refseq_name": "G patch domain-containing protein 2-like isoform 1", "refseq_ac": [ { "id": "NP_060396", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060396", "type": "external" } ], "gene_names_uniprotkb": "GPATCH2L; C14orf118; KIAA1152", "gene_names_refseq": "C14orf118; GPATCH2L", "protein_names_uniprotkb": "G patch domain-containing protein 2-like", "protein_names_refseq": "G patch domain-containing protein 2-like isoform 1; G patch domain-containing protein 2-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:55668)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "18669648;19413330;19651622;19690332;20068231;21406692;22706990;23186163;23481700;24714562;25505266;25576301;26375851;26758079;26992070;29493099;30429286;31844290;31848261;32157095;32897882;33298915;33392160;33633747;33717175;33912179;33968037;34561969;35051231;35580925;37438603;40307207", "class_list": "", "function": "N6-methyladenosine hypomethylation of circGPATCH2L regulates DNA damage and apoptosis through TRIM28 in intervertebral disc degeneration., [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": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KN42;Q6PEJ7;Q9H3M3;Q9NWH0;Q9ULR8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9NWQ4-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08473-1", "uniprot_id": [ { "id": "NEP_HUMAN", "url": "https://www.uniprot.org/uniprot/P08473", "type": "external" } ], "mass": 85514.0, "length": 750, "protein_name": "Neprilysin", "gene_name": "MME", "organism": "Human", "refseq_name": "neprilysin isoform a", "refseq_ac": [ { "id": "NP_000893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000893", "type": "external" } ], "gene_names_uniprotkb": "MME; EPN", "gene_names_refseq": "CALLA; CD10; CMT2T; MME; NEP; SCA43; SFE", "protein_names_uniprotkb": "Neprilysin; 3.4.24.11; Atriopeptidase; CALLA; Common acute lymphocytic leukemia antigen; Enkephalinase; NEP; Neutral endopeptidase 24.11; Neutral endopeptidase; SFE; Skin fibroblast elastase", "protein_names_refseq": "atriopeptidase; common acute lymphocytic leukemia antigen; membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10); neprilysin isoform a; neprilysin-390; neprilysin-411; neprilysin; neutral endopeptidase 24.11; skin fibroblast elastase", "tax_id": 9606, "disease": "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); 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:4311); (R-HSA-2022377); (R-HSA-5578768); (R-HSA-6798695); (R-HSA-9927432)", "pathway_count": 5, "publication_count": 106, "publication_id_list": "10.1101/2023.09.13.557529;10536878;10669592;10880574;10899625;10924499;10969042;11237011;11502696;11532038;11815627;12045255;12540854;12754519;12927775;14559895;14747736;15146390;15283675;15571618;16254193;1668266;1672777;16790432;17101991;17138938;17660514;17704566;1848554;1851160;18578522;19756956;19800993;19934029;20068231;20166139;20380117;20876573;20889553;20957047;2144260;22193701;2266130;22766194;22767595;23328677;23446738;23650620;24141856;24190977;24275569;2443571;25202235;2528730;2531377;2558510;26817948;26931059;26990595;26991897;26992070;2708524;27102936;27583304;27588448;28228285;2846041;29242379;29314611;29557506;2968607;2971756;2972276;29741879;3017438;31611695;3162217;31844290;32157095;32506827;33592498;33633747;35225664;35561310;37074911;38229323;383475;38428725;38860315;39232784;4289389;4322712;4330891;4360430;6208535;6269175;6270633;6303766;6349683;6807977;7980644;8168535;8692836;8943850;9169443;9570564", "class_list": "", "function": "'Evaluation of neprilysin activity in Adipose-Derived stem cells from Alzheimer's disease patients'., [RefSeq, PubMed]; A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing., [RefSeq, PubMed]; A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families. Publication Status: Online-Only, [RefSeq, PubMed]; MiRNA-211-5p inhibition enhances the protective effect of hucMSC-derived exosome in Abeta1-40 -induced SH-SY5Y cells by increasing NEP expression., [RefSeq, PubMed]; The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017]., [RefSeq]; Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids (PubMed:15283675, PubMed:6208535, PubMed:6349683, PubMed:8168535). Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond (PubMed:17101991, PubMed:6349683). Catalyzes cleavage of bradykinin, substance P and neurotensin peptides (PubMed:6208535). Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9 (PubMed:15283675, PubMed:6349683). Involved in the degradation of atrial natriuretic factor (ANF) and brain natriuretic factor (BNP(1-32)) (PubMed:16254193, PubMed:2531377, PubMed:2972276). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers (PubMed:20876573)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 1, "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": 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": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 8325, "biomarker_type": "diagnostic", "glycan_count": 94, "disease_count": 11, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K6U6;D3DNJ9;Q3MIX4", "ec_number_list": [ { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.2.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.19", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.4.24.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.4.15.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.15.1", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.4.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.2", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0008238 exopeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0005903 brush border;GO:0005925 focal adhesion", "go_biological_process": "GO:0071493 cellular response to UV-B;GO:0006508 proteolysis;GO:0007611 learning or memory;GO:0016485 protein processing;GO:0050435 amyloid-beta metabolic process", "synthesized_glycan_count": 0, "hit_score": 20.6, "record_id": "P08473-1", "record_type": "protein", "filter_code": "1000000.1000111.100000.000000000001000000.1000110000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BW27-1", "uniprot_id": [ { "id": "NUP85_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BW27", "type": "external" } ], "mass": 75019.0, "length": 656, "protein_name": "Nuclear pore complex protein Nup85", "gene_name": "NUP85", "organism": "Human", "refseq_name": "nuclear pore complex protein Nup85 isoform 2", "refseq_ac": [ { "id": "NP_001290205", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290205", "type": "external" } ], "gene_names_uniprotkb": "NUP85; NUP75; PCNT1", "gene_names_refseq": "FROUNT; NPHS17; NUP85; Nup75", "protein_names_uniprotkb": "Nuclear pore complex protein Nup85; 85 kDa nucleoporin; FROUNT; Nucleoporin Nup75; Nucleoporin Nup85; Pericentrin-1", "protein_names_refseq": "nuclear pore complex protein Nup85 isoform 2; nuclear pore complex protein Nup85; nucleoporin 85kDa; nucleoporin Nup75; nucleoporin Nup85", "tax_id": 9606, "disease": "nephrotic syndrome type 17 (Disease Ontology:DOID:0080392)", "pathway": " (hsa:79902); (R-HSA-1169408); (R-HSA-141430); (R-HSA-141444); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-5663220); (R-HSA-6784531); (R-HSA-68877); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9648025); (R-HSA-9705671)", "pathway_count": 39, "publication_count": 526, "publication_id_list": 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"class_list": "", "function": "Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance (PubMed:12718872). As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to the nucleus (PubMed:12718872). The Nup107-160 complex seems to be required for spindle assembly during mitosis (PubMed:16807356). NUP85 is required for membrane clustering of CCL2-activated CCR2 (PubMed:15995708). Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade (PubMed:15995708). Involved in nephrogenesis (PubMed:30179222)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders., [RefSeq, PubMed]; Functions as a component of the nuclear pore complex (NPC)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]; [Analysis of correlation between high expression of nucleoporin 85 (NUP85) and immune cell infiltration in hepatocellular carcinoma]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DMQ3;B4DPW1;Q8NDI4;Q9H9U1", "ec_number_list": [], "go_molecular_function": "GO:0017056 structural constituent of nuclear pore", "go_cellular_component": "GO:0031080 nuclear pore outer ring;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0072006 nephron development;GO:0006406 mRNA export from nucleus;GO:0006913 nucleocytoplasmic transport;GO:0045893 positive regulation of DNA-templated transcription;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 52.9, "record_id": "Q9BW27-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UFN0-1", "uniprot_id": [ { "id": "NPS3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UFN0", "type": "external" } ], "mass": 28467.0, "length": 247, "protein_name": "Protein NipSnap homolog 3A", "gene_name": "NIPSNAP3A", "organism": "Human", "refseq_name": "protein NipSnap homolog 3A isoform 2", "refseq_ac": [ { "id": "NP_001316499", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316499", "type": "external" } ], "gene_names_uniprotkb": "NIPSNAP3A; HSPC299; NIPSNAP4", "gene_names_refseq": "HSPC299; NIPSNAP3A; NIPSNAP4; TASSC", "protein_names_uniprotkb": "Protein NipSnap homolog 3A; NipSnap3A; NipSnap4; Protein NipSnap homolog 4; Target for Salmonella secreted protein C; TassC", "protein_names_refseq": "protein NipSnap homolog 3A isoform 2; protein NipSnap homolog 3A; protein NipSnap homolog 4; target for Salmonella secreted protein C", "tax_id": 9606, "disease": "", "pathway": " (hsa:25934)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "12427096;18566446;19117535;19608861;25892735;26811146;26992070;27846572;27869121;27920218;28218747;28228285;29437277;29493099;29557506;29632711;30315122;30410026;31154438;31530632;31844290;31848261;32350084;32983136;33912179;33968037;34185709;34357683;35051231", "class_list": "", "function": "NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A6NM55;Q5VX32;Q9BRV7;Q9H843;Q9P083", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0000423 mitophagy", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9UFN0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16625-1", "uniprot_id": [ { "id": "OCLN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16625", "type": "external" } ], "mass": 59144.0, "length": 522, "protein_name": "Occludin", "gene_name": "OCLN", "organism": "Human", "refseq_name": "occludin isoform a", "refseq_ac": [ { "id": "NP_001192183", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192183", "type": "external" } ], "gene_names_uniprotkb": "OCLN", "gene_names_refseq": "BLCPMG; OCLN; PPP1R115; PTORCH1", "protein_names_uniprotkb": "Occludin", "protein_names_refseq": "occludin isoform a; phosphatase 1, regulatory subunit 115", "tax_id": 9606, "disease": "pseudo-TORCH syndrome 1 (Disease Ontology:DOID:0050656); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); transient cerebral ischemia (Disease Ontology:DOID:224); Crohn's disease (Disease Ontology:DOID:8778); diabetic retinopathy (Disease Ontology:DOID:8947)", "pathway": " (hsa:100506658); (R-HSA-351906); (R-HSA-8935964)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10.1101/2023.09.13.557529;10523508;10748026;11076937;11237011;11500511;11502742;12118072;12419305;12804768;15054114;16286477;17525332;17559062;18292551;18318008;18707149;19017651;19054851;19114660;19125584;19182773;19332538;19478092;19664995;20166139;20375010;20463075;20727516;21406692;21536752;21545357;21806988;22438576;22516225;22671587;23239027;23532847;23758859;23923978;24275569;25452107;25502872;25576301;26992070;27423695;27846572;27862975;28467828;28832583;29242379;29508533;29557506;29786170;30429286;30573663;30734065;30779550;31844290;31848261;32157095;32350084;32502341;32938616;33592498;33968037;33981976;34078123;34087483;34932366;35051231;35154160;35318648;35580925;36284347;37721332;38141113;38157366;8601611;9175707", "class_list": "", "function": "(Microbial infection) Acts as a coreceptor for hepatitis C virus (HCV) in hepatocytes., [UniProtKB, PubMed, PubMed]; Association of serum occludin levels and perihematomal edema volumes in intracranial hemorrhage patients., [RefSeq, PubMed]; Data suggest that the natural splicing diversity of occludin might contribute to hepatitis C virus tissue tropism and possibly modify the outcome of HCV infection in humans., [RefSeq, PubMed]; Different occludin variants were identified on the mRNA level, [RefSeq, PubMed]; May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Occludin is overexpressed in tubo-ovarian high-grade serous carcinoma compared to mesothelioma and is a marker of tumor progression and chemoresistance., [RefSeq, PubMed]; Roles of epidermal growth factor receptor, claudin-1 and occludin in multi-step entry of hepatitis C virus into polarized hepatoma spheroids. Publication Status: Online-Only, [RefSeq, PubMed]; The tight junction protein occludin (encoded by the OCLN gene) is involved in the pathogenesis of malformations of cortical development., [RefSeq, PubMed]; This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]., [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": 0, "mined_o_glycosites": 3, "mined_c_glycosites": 0, "mined_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": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 27, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B5BU70;D2DU64;D2DU65;D2IGC0;D2IGC1;E2CYV9;Q5U1V4;Q8N6K1", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction;GO:0030054 cell junction;GO:0031252 cell leading edge", "go_biological_process": "GO:0010631 epithelial cell migration;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0090303 positive regulation of wound healing;GO:0070830 bicellular tight junction assembly", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q16625-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04941-1", "uniprot_id": [ { "id": "PLP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04941", "type": "external" } ], "mass": 16691.0, "length": 152, "protein_name": "Proteolipid protein 2", "gene_name": "PLP2", "organism": "Human", "refseq_name": "proteolipid protein 2", "refseq_ac": [ { "id": "NP_002659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002659", "type": "external" } ], "gene_names_uniprotkb": "PLP2; A4", "gene_names_refseq": "A4LSB; A4; PLP2", "protein_names_uniprotkb": "Proteolipid protein 2; Differentiation-dependent protein A4; Intestinal membrane A4 protein", "protein_names_refseq": "A4 differentiation-dependent protein; differentiation-dependent protein A4; intestinal membrane A4 protein; proteolipid protein 2 (colonic epithelium-enriched); proteolipid protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5355)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;15474493;16344560;17416750;22645359;23584533;25813380;26992070;28218747;28228285;28904123;29331515;29437277;29493099;29557506;30410026;30484775;30833945;31154438;31611695;31844290;31848261;32350084;32502341;32938616;33214551;33968037;34171305;34409455;35190586;35580925;36284347;36921056;37715423;38085372;38665916;8470895;9344658", "class_list": "", "function": "Low Expression of A3C and PLP2 Indicating a Favorable Prognosis in Human Gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in cell differentiation in the intestinal epithelium., [UniProtKB]; PLP2 drives collective cell migration via ZO-1-mediated cytoskeletal remodeling at the leading edge in human colorectal cancer cells., [RefSeq, PubMed]; PLP2 is expressed abundantly in the pyramidal cells of hippocampus and granular cells of the cerebellum in the brains of a cohort of males with probable X-linked mental retardation., [RefSeq, PubMed]; PLP2-derived peptide Rb4 triggers PARP-1-mediated necrotic death in murine melanoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; PLP2/A4 has a role in the chemotactic processes via CCR1, [RefSeq, PubMed]; Reduced Proteolipid Protein 2 promotes endoplasmic reticulum stress-related apoptosis and increases drug sensitivity in acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis of plp2-mediated cytoskeletal protein folding by TRiC/CCT., [RefSeq, PubMed]; This gene encodes an integral membrane protein that localizes to the endoplasmic reticulum in colonic epithelial cells. The encoded protein can multimerize and may function as an ion channel. A polymorphism in the promoter of this gene may be linked to an increased risk of X-linked cognitive disability. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "A6NDT7;Q32MM8", "ec_number_list": [], "go_molecular_function": "GO:0019956 chemokine binding;GO:0015075 monoatomic ion transmembrane transporter activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0006935 chemotaxis;GO:0019221 cytokine-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q04941-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FJ0-1", "uniprot_id": [ { "id": "STALP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FJ0", "type": "external" } ], "mass": 49783.0, "length": 436, "protein_name": "AMSH-like protease", "gene_name": "STAMBPL1", "organism": "Human", "refseq_name": "AMSH-like protease", "refseq_ac": [ { "id": "NP_065850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065850", "type": "external" } ], "gene_names_uniprotkb": "STAMBPL1; AMSHLP; KIAA1373", "gene_names_refseq": "ALMalpha; AMSH-FP; AMSH-LP; STAMBPL1; bA399O19.2", "protein_names_uniprotkb": "AMSH-like protease; 3.4.19.-; AMSH-LP; STAM-binding protein-like 1", "protein_names_refseq": "AMSH-like protease; associated molecule with the SH3 domain of STAM (AMSH) - Family Protein; associated molecule with the SH3 domain of STAM (AMSH) like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:57559); (R-HSA-5689901)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10383417;12353037;12810066;16385451;17322306;17707232;18669648;18758443;19202061;20068231;23186163;23246432;25576301;26992070;27846572;28514659;28832583;28904123;29242379;29557506;31844290;32350084;32357974;32488085;32502341;33298915;33592498;33936100;33968037;34171305;34425109;34932366;35114100;35236965;35580925;36581221;38419066;39150093", "class_list": "", "function": "Data show that associated molecule with the SH3 domain of STAM-like protein (AMSH-LP), unlike AMSH, fails to bind to the SH3 domains of STAM1 (signal transducing adaptor molecule 1) and Grb2., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; STAMBPL1 promotes breast cancer cell resistance to cisplatin partially by stabilizing MKP-1 expression., [RefSeq, PubMed]; STAMBPL1, transcriptionally regulated by SREBP1, promotes malignant behaviors of hepatocellular carcinoma cells via Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; Unlocking hepatocellular carcinoma aggression: STAMBPL1-mediated TRAF2 deubiquitination activates WNT/PI3K/NF-kb signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains (PubMed:18758443, PubMed:35114100). Acts as a positive regulator of the TORC1 signaling pathway by mediating 'Lys-63'-linked deubiquitination of SESN2, thereby inhibiting SESN2-interaction with the GATOR2 complex (PubMed:35114100). Does not cleave 'Lys-48'-linked polyubiquitin chains (PubMed:18758443)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPA7;Q5T9N4;Q5T9N9;Q7Z420;Q9P2H4", "ec_number_list": [ { "id": "3.4.19.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0061578 K63-linked deubiquitinase activity;GO:0140492 metal-dependent deubiquitinase activity", "go_cellular_component": "GO:0005768 endosome;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0070536 protein K63-linked deubiquitination;GO:0071233 cellular response to L-leucine", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q96FJ0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3A2-1", "uniprot_id": [ { "id": "UTP11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3A2", "type": "external" } ], "mass": 30447.0, "length": 253, "protein_name": "Probable U3 small nucleolar RNA-associated protein 11", "gene_name": "UTP11", "organism": "Human", "refseq_name": "probable U3 small nucleolar RNA-associated protein 11", "refseq_ac": [ { "id": "NP_057121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057121", "type": "external" } ], "gene_names_uniprotkb": "UTP11; CGI-94; HDCMB12P; UTP11L", "gene_names_refseq": "CGI-94; CGI94; UTP11L; UTP11", "protein_names_uniprotkb": "Probable U3 small nucleolar RNA-associated protein 11; U3 snoRNA-associated protein 11; UTP11-like protein", "protein_names_refseq": "U3 snoRNA-associated protein 11; UTP11, small subunit processome component homolog; UTP11-like protein; UTP11-like, U3 small nucleolar ribonucleoprotein; probable U3 small nucleolar RNA-associated protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:51118); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 141, "publication_id_list": "10606270;11081632;11860508;11922599;11935223;11978965;12068309;12150911;12417735;15199136;16037817;16043514;16381836;16738141;16782898;17081983;17189298;17353269;17412707;17636026;18065403;18438418;19007248;19033376;19106111;19332556;19413330;19463982;19564402;19691289;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21406692;22072790;22190735;22195017;22424782;22916032;23186163;23391857;23439679;23481700;23482395;2388630;24086612;24366607;24397554;24424021;24550520;24715725;25218447;25411247;25525153;25576301;25645385;25653167;25851604;25892735;25969445;26085946;26154972;26196125;26237581;26375851;26811146;26992070;27084949;27600516;27846572;27862975;27869121;27893789;27920218;28063628;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30429286;30524438;31154438;31530632;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34516797;34561969;35051231;35251023;35580925;36010968;36215666;36241641;36284347;37087976;38233795;9211966;9482744;9512526", "class_list": "", "function": "CGI-94 is down-regulated at the mRNA level in the hippocampus of early stage AD brain, [RefSeq, PubMed]; Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Involved in nucleolar processing of pre-18S ribosomal RNA., [UniProtKB, PubMed]; UTP11 deficiency suppresses cancer development via nucleolar stress and ferroptosis., [RefSeq, PubMed]; UTP11 promotes the growth of hepatocellular carcinoma by enhancing the mRNA stability of Oct4. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K785;B4DJC6;D3DPT7;Q5VT93;Q9BS98;Q9NS31", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0032040 small-subunit processome", "go_biological_process": "GO:0007399 nervous system development;GO:0043065 positive regulation of apoptotic process;GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "Q9Y3A2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WZ6-1", "uniprot_id": [ { "id": "ZN227_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WZ6", "type": "external" } ], "mass": 92033.0, "length": 799, "protein_name": "Zinc finger protein 227", "gene_name": "ZNF227", "organism": "Human", "refseq_name": "zinc finger protein 227 isoform a", "refseq_ac": [ { "id": "NP_001276095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276095", "type": "external" } ], "gene_names_uniprotkb": "ZNF227", "gene_names_refseq": "ZNF227", "protein_names_uniprotkb": "Zinc finger protein 227", "protein_names_refseq": "zinc finger protein 227 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:7770); (R-HSA-212436)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;28904123;30429286;31154438;31844290;31848261;32157095;33717175;33936100;35051231;36010968;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B3KRU7;B7Z5P9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q86WZ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07869-1", "uniprot_id": [ { "id": "PPARA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07869", "type": "external" } ], "mass": 52225.0, "length": 468, "protein_name": "Peroxisome proliferator-activated receptor alpha", "gene_name": "PPARA", "organism": "Human", "refseq_name": "peroxisome proliferator-activated receptor alpha isoform 1", "refseq_ac": [ { "id": "NP_001001928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001928", "type": "external" } ], "gene_names_uniprotkb": "PPARA; NR1C1; PPAR", "gene_names_refseq": "NR1C1; PPAR-alpha; PPARA; PPARalpha; PPAR; hPPAR", "protein_names_uniprotkb": "Peroxisome proliferator-activated receptor alpha; Nuclear receptor subfamily 1 group C member 1; PPAR-alpha", "protein_names_refseq": "nuclear receptor subfamily 1 group C member 1; peroxisome proliferative activated receptor, alpha; peroxisome proliferator-activated receptor alpha isoform 1", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); hydrocephalus (Disease Ontology:DOID:10908); morbid obesity (Disease Ontology:DOID:11981); alcoholic hepatitis (Disease Ontology:DOID:12351); cystic fibrosis (Disease Ontology:DOID:1485); alcohol use disorder (Disease Ontology:DOID:1574); lipid metabolism disorder (Disease Ontology:DOID:3146); coronary artery disease (Disease Ontology:DOID:3393); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); periodontitis (Disease Ontology:DOID:824); diabetes mellitus (Disease Ontology:DOID:9351); hypertensive encephalopathy (Disease Ontology:DOID:9427); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5465); (R-HSA-1368108); (R-HSA-1989781); (R-HSA-2151201); (R-HSA-2426168); (R-HSA-381340); (R-HSA-383280); (R-HSA-400206); (R-HSA-4090294); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9844594); (R-HSA-9931509); (R-HSA-9933387)", "pathway_count": 14, "publication_count": 274, "publication_id_list": "10075656;10187842;10195690;10198158;10235266;10381560;10400691;10412986;10425206;10494028;10529898;10542397;10643692;10681503;10713165;10759542;10777541;11018023;11095972;11121022;11162494;11226238;11237011;11241162;11267664;11330046;11340167;11387216;11414710;11587644;11698662;11779144;11809803;11845213;11865025;11872672;11915042;12077349;12083769;12118000;12130498;12130638;12144530;12177000;12177166;12213831;12356737;12374852;12377782;12406875;12505311;12511571;12563009;12582161;12738229;12745923;12764144;12829629;12955147;12969439;1377680;14500761;14672706;14980219;15067378;15130092;15131257;15175151;15175654;15192080;15192092;15273253;15500444;15560782;15635043;15665827;15684387;15761026;15850785;15896744;15919796;15923626;15961505;16079181;16079853;16380219;16476485;16503871;16568091;16751179;16788062;16857194;16890199;16908542;16911507;16912044;16972786;17007889;17011499;17020914;17031457;17105732;17157019;17218271;17243659;17264172;17306620;17314004;17437997;17449569;17715127;17717077;17923681;17925399;17980149;18006707;18037887;18215119;18288277;18292238;18343819;18477386;18540824;18559965;18587630;18619963;18654640;18680753;18682402;18719978;18726356;18848529;18931025;19001277;19041634;19043829;19088433;19115207;19116277;19119483;19172745;19211567;19263263;19289416;19349176;19356719;19417006;19622862;1968462;19690164;19692572;19710360;19710929;1971514;19850744;19864602;19934321;19951946;19955185;19968714;20101261;20110263;20138239;20159957;20450493;20581824;20719759;20719936;20817722;20929863;20937905;21047783;21467194;21479263;21525007;21628546;21889235;22381047;22427940;22634312;22706990;22930759;23076161;23239344;23546875;24043310;24196956;25114211;2539258;27071062;2713875;27754849;28111073;28167758;28698372;28832583;29242379;29557506;29789417;2991279;31748741;31844290;32157095;32354867;32488085;32502341;32695117;32938616;33214136;3345742;33968037;34185709;3427020;3475708;34932366;35580925;38015538;38167146;39000217;39251636;6094553;7567999;7592729;7629110;7629123;7684926;7685352;7732023;7799916;7892212;7909540;7981125;8020941;8060328;8108407;8156598;8325954;8333869;8386511;8402897;8415693;8618898;8619637;8622974;8626466;8626488;8643605;8647822;8663599;8706692;8770873;8798690;8887638;8970730;8976377;8993548;9012850;9062340;9065481;9079689;9099716;9144434;9171241;9178750;9238002;9286700;9454824;9556573;9604010;9634533;9653119;9748239;9748295;9836620", "class_list": "", "function": "Current View on PPAR-alpha and Its Relation to Neurosteroids in Alzheimer's Disease and Other Neuropsychiatric Disorders: Promising Targets in a Therapeutic Strategy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl-2-oleoyl-sn-glycerol-3-phosphocholine (16:0/18:1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regulates satiety. Receptor for peroxisome proliferators such as hypolipidemic drugs and fatty acids. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as a transcription activator for the ACOX1 and P450 genes. Transactivation activity requires heterodimerization with RXRA and is antagonized by NR2C2. May be required for the propagation of clock information to metabolic pathways regulated by PER2., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; PPARA and IL6: exploring associations with athletic performance and genotype polymorphism. Publication Status: Online-Only, [RefSeq, PubMed]; Pan PPAR agonist stimulation of induced MSCs produces extracellular vesicles with enhanced renoprotective effect for acute kidney injury. Publication Status: Online-Only, [RefSeq, PubMed]; Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Weighted gene co-expression network analysis identified GBP2 connected to PPARalpha activity and liver cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 17, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0G0X3;Q16241;Q6I9S0;Q92486;Q92689;Q9Y3N1", "ec_number_list": [], "go_molecular_function": "GO:0051525 NFAT protein binding;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001650 fibrillar center;GO:0016604 nuclear body;GO:0000785 chromatin", "go_biological_process": "GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development;GO:1903427 negative regulation of reactive oxygen species biosynthetic process;GO:1903944 negative regulation of hepatocyte apoptotic process;GO:0046209 nitric oxide metabolic process;GO:2001171 positive regulation of ATP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 27.5, "record_id": "Q07869-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M1K9-1", "uniprot_id": [ { "id": "ZN423_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M1K9", "type": "external" } ], "mass": 144605.0, "length": 1284, "protein_name": "Zinc finger protein 423", "gene_name": "ZNF423", "organism": "Human", "refseq_name": "zinc finger protein 423 isoform 2", "refseq_ac": [ { "id": "NP_001258549", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258549", "type": "external" } ], "gene_names_uniprotkb": "ZNF423; KIAA0760; NPHP14; OAZ", "gene_names_refseq": "Ebfaz; JBTS19; NPHP14; OAZ; Roaz; ZFP423; ZNF423; Zfp104; hOAZ", "protein_names_uniprotkb": "Zinc finger protein 423; Olf1/EBF-associated zinc finger protein; Smad- and Olf-interacting zinc finger protein; hOAZ", "protein_names_refseq": "Ebf-associated zinc finger protein; OLF-1/EBF associated zinc finger; Smad- and Olf-interacting zinc finger protein; early B-cell factor associated zinc finger protein; olf1/EBF-associated zinc finger protein; zinc finger protein 423 isoform 2", "tax_id": 9606, "disease": "nephronophthisis 14 (Disease Ontology:DOID:0111122); Dandy-Walker syndrome (Disease Ontology:DOID:2785); cerebellar disease (Disease Ontology:DOID:2786)", "pathway": " (hsa:23090); (R-HSA-9844594)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10660046;11237011;17924679;19664994;19664995;21406692;22863007;25645385;26154972;28411811;31154438;31848261;32925911;32938616;33392160;35051231;35313831;36010968", "class_list": "", "function": "Expression of the preadipocyte marker ZFP423 is dysregulated between well-differentiated and dedifferentiated liposarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]., [RefSeq]; Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities. 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": 10, "reported_glycation": 0, "reported_snv": 62, "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": "O94860;Q76N04;Q9NZ13", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007219 Notch signaling pathway;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q2M1K9-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVR3-1", "uniprot_id": [ { "id": "TPC14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVR3", "type": "external" } ], "mass": 62597.0, "length": 580, "protein_name": "Trafficking protein particle complex subunit 14", "gene_name": "TRAPPC14", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 14 isoform 1", "refseq_ac": [ { "id": "NP_060745", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060745", "type": "external" } ], "gene_names_uniprotkb": "TRAPPC14; C7orf43; MAP11", "gene_names_refseq": "C7orf43; MAP11; MCPH25; TRAPPC14", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 14; Microtubule-associated protein 11", "protein_names_refseq": "microtubule associated protein 11; trafficking protein particle complex 14; trafficking protein particle complex subunit 14 isoform 1; uncharacterized protein C7orf43", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 25 (Disease Ontology:DOID:0051036)", "pathway": " (hsa:55262)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11230166;11237011;18669648;23186163;24366607;26992070;27600516;27846572;27920218;28832583;28834231;28904123;29242379;29393594;30379171;30447097;30715179;30833945;31154438;31217245;31467083;31530632;31844290;32157095;32488085;32897882;32938616;33123756;33633747;33912179;33968037;34171305;34357683;34932366;35051231;35580925;36241641", "class_list": "", "function": "C7orf43 directly binds to Rabin8 and that C7orf43 knockdown diminishes Rabin8 preciliary centrosome accumulation., [RefSeq, PubMed]; Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether (PubMed:30715179, PubMed:31467083). TRAPP II complex also has GEF activity toward RAB1A (By similarity). TRAPPC14 is dispensable for TRAPPII complex integrity but mediates RAB3IP preciliary vesicle trafficking to the mother centriole during ciliogenesis (PubMed:31467083). Modulates YAP1 activity as transcriptional regulator (PubMed:30447097)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "A4D2A9;D6W5U4;Q9BQJ1;Q9BUB6;Q9NV47", "ec_number_list": [], "go_molecular_function": "GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0030496 midbody;GO:0034451 centriolar satellite;GO:0072686 mitotic spindle;GO:1990071 TRAPPII protein complex", "go_biological_process": "GO:0042127 regulation of cell population proliferation;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q8WVR3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05516-1", "uniprot_id": [ { "id": "ZBT16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05516", "type": "external" } ], "mass": 74274.0, "length": 673, "protein_name": "Zinc finger and BTB domain-containing protein 16", "gene_name": "ZBTB16", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 16 isoform 1", "refseq_ac": [ { "id": "NP_001018011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018011", "type": "external" } ], "gene_names_uniprotkb": "ZBTB16; PLZF; ZNF145", "gene_names_refseq": "PLZF; ZBTB16; ZNF145", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 16; Promyelocytic leukemia zinc finger protein; Zinc finger protein 145; Zinc finger protein PLZF", "protein_names_refseq": "promyelocytic leukaemia zinc finger; zinc finger and BTB domain-containing protein 16 isoform 1; zinc finger and BTB domain-containing protein 16; zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia); zinc finger protein PLZF", "tax_id": 9606, "disease": "acute promyelocytic leukemia (Disease Ontology:DOID:0060318); caudal regression syndrome (Disease Ontology:DOID:0080700); polydactyly (Disease Ontology:DOID:1148); skeletal defects, genital hypoplasia, and intellectual disability (MONDO:MONDO:0012909)", "pathway": " (hsa:7704); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 153, "publication_id_list": "10500192;10535940;10537309;10572087;10597293;10688654;10811609;10878807;10973499;11062501;11069780;11161217;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;16401342;16547496;16595681;16647857;16676348;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18246121;18452278;18611983;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24359566;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26676652;26906416;27030794;27222660;27565346;27862975;28115426;29153394;30429286;30610225;31154438;31848261;32005965;32157095;32284348;32897882;33444648;35051231;38442714;38654107;38789960;8384553;8387545;9380723;9668046;9770450;9790970;9887101;9891082", "class_list": "", "function": "Acts as a transcriptional repressor (PubMed:10688654, PubMed:24359566). Transcriptional repression may be mediated through recruitment of histone deacetylases to target promoters (PubMed:10688654). May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312)., [UniProtKB, PubMed, PubMed, PubMed]; Emerging evidence shows that PLZF regulates the balance of self-renewal and differentiation in stem cells. Review article, [RefSeq, PubMed]; Human cortical neurogenesis is altered via glucocorticoid-mediated regulation of ZBTB16 expression., [RefSeq, PubMed]; Long non-coding RNA LINC00930 targeting miR-6792-3p/ZBTB16 regulates the proliferation and EMT of pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; ZBTB16 inhibits DNA replication and induces cell cycle arrest by targeting WDHD1 transcription in lung adenocarcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "Q8TAL4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0017053 transcription repressor complex;GO:0016604 nuclear body", "go_biological_process": "GO:0043931 ossification involved in bone maturation;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:0045600 positive regulation of fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q05516-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11441-1", "uniprot_id": [ { "id": "UBL4A_HUMAN", "url": "https://www.uniprot.org/uniprot/P11441", "type": "external" } ], "mass": 17777.0, "length": 157, "protein_name": "Ubiquitin-like protein 4A", "gene_name": "UBL4A", "organism": "Human", "refseq_name": "ubiquitin-like protein 4A", "refseq_ac": [ { "id": "NP_055050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055050", "type": "external" } ], "gene_names_uniprotkb": "UBL4A; DXS254E; GDX; UBL4", "gene_names_refseq": "DX254E; DXS254E; GDX; GET5; MDY2; TMA24; UBL4A; UBL4", "protein_names_uniprotkb": "Ubiquitin-like protein 4A; Ubiquitin-like protein GDX", "protein_names_refseq": "ubiquitin-like 4; ubiquitin-like protein 4A; ubiquitin-like protein GDX", "tax_id": 9606, "disease": "", "pathway": " (hsa:8266); (R-HSA-9609523)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "11237011;15708368;16777091;17081983;17322306;17382883;18477612;18669648;19690332;20068231;20375064;20676083;21444755;21466504;21636303;21743475;23041287;23129660;23142665;23186163;23246001;23481700;23533635;24392163;24424410;24715725;25179605;25415308;25535373;25576301;25645385;25713138;26675233;27193484;27226539;27458190;27600516;27862975;28104892;28228285;2829204;28832583;28904123;29242231;29242379;29493099;30524438;31154438;31451677;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32502341;32609950;32897882;32938616;32983136;33141586;33298915;33592498;33968037;33981976;34087483;34171305;34509645;34887561;35051231;35251023;36010968;36215666;39487760;8733135", "class_list": "", "function": "A novel positive feedback regulation of UBL4A in innate immune response combating virus invasion by enhancing the K63-linked ubiquitination of TRAF6., [RefSeq, PubMed]; As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates in their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20676083, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20676083, PubMed:25535373, PubMed:28104892). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome (PubMed:28104892). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; GdX inhibits the occurrence and progression of breast cancer by negatively modulating the activity of STAT3., [RefSeq, PubMed]; MiR-34b-3p protects against acute kidney injury in sepsis mice via targeting ubiquitin-like protein 4A., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 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": "Q5HY80", "ec_number_list": [], "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0019787 ubiquitin-like protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006620 post-translational protein targeting to endoplasmic reticulum membrane;GO:0036211 protein modification process;GO:0031647 regulation of protein stability;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0071816 tail-anchored membrane protein insertion into ER membrane", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "P11441-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q495A1-1", "uniprot_id": [ { "id": "TIGIT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q495A1", "type": "external" } ], "mass": 26319.0, "length": 244, "protein_name": "T-cell immunoreceptor with Ig and ITIM domains", "gene_name": "TIGIT", "organism": "Human", "refseq_name": "T-cell immunoreceptor with Ig and ITIM domains precursor", "refseq_ac": [ { "id": "NP_776160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776160", "type": "external" } ], "gene_names_uniprotkb": "TIGIT; VSIG9; VSTM3", "gene_names_refseq": "TIGIT; VSIG9; VSTM3; WUCAM", "protein_names_uniprotkb": "T-cell immunoreceptor with Ig and ITIM domains; V-set and immunoglobulin domain-containing protein 9; V-set and transmembrane domain-containing protein 3", "protein_names_refseq": "T-cell immunoreceptor with Ig and ITIM domains precursor; V-set and immunoglobulin domain containing 9; V-set and immunoglobulin domain-containing protein 9; V-set and transmembrane domain containing 3; V-set and transmembrane domain-containing protein 3; VSIG9, VSTM3; Washington University cell adhesion molecule", "tax_id": 9606, "disease": "", "pathway": " (hsa:201633)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;19011627;19197944;19815499;21416464;22421438;23154388;24817116;28832583;29242379;31844290;32350084;32503945;34030043;38848896;38852289;38868776;39105820;39251968", "class_list": "", "function": "A novel immunoreceptor, Washington University Cell Adhesion Molecule, which is expressed on human follicular B helper T cells, was described., [RefSeq, PubMed]; Expression and Prognostic Significance of LAG-3, TIGIT, VISTA, and IDO1 in Endometrial Serous Carcinoma., [RefSeq, PubMed]; Inhibitory receptor that plays a role in the modulation of immune responses. Suppresses T-cell activation by promoting the generation of mature immunoregulatory dendritic cells. Upon binding to its ligands PVR/CD155 or NECTIN2/CD112, which are expressed on antigen-presenting cells, sends inhibitory signals to the T-cell or NK cell. Mechanistically, interaction with ligand leads to phosphorylation of the cytoplasmic tail by Src family tyrosine kinases such as FYN or LCK, allowing subsequent binding to adapter GRB2 and SHIP1/INPP5D. In turn, inhibits PI3K and MAPK signaling cascades. In addition, associates with beta-arrestin-2/ARRB2 to recruit SHIP1/INPP5D that suppresses autoubiquitination of TRAF6 and subsequently inhibits NF-kappa-B signaling pathway. Also acts as a receptor for NECTIN4 to inhibit NK cell cytotoxicity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Relationship between TIGIT expression on T cells and the prognosis of patients with hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; TIGIT counter inhibits the NK-mediated killing of tumor cells and protects normal cells from NK-mediated cytotoxicity thus providing an 'alternative self' mechanism for MHC class I inhibition., [RefSeq, PubMed]; TIGIT exerts immunosuppressive effects by binding to poliovirus receptor and modulating cytokine production by dendritic cells., [RefSeq, PubMed]; TIGIT expression in renal cell carcinoma infiltrating T cells is variable and inversely correlated with PD-1 and LAG3. Publication Status: Online-Only, [RefSeq, PubMed]; TIGIT[+]Tfh show poor B-helper function and negatively correlate with SARS-CoV-2 antibody titre. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting the dynamic transcriptional landscape of Treg subpopulations in pancreatic ductal adenocarcinoma: Insights from single-cell RNA sequencing analysis with a focus on CTLA4 and TIGIT., [RefSeq, PubMed]; That soluble Vstm3 attenuates T-cell responses in vitro and in vivo, [RefSeq, PubMed]; This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[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": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q495A3;Q5JPD8;Q6MZS2;Q8N877", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0032695 negative regulation of interleukin-12 production;GO:0045953 negative regulation of natural killer cell mediated cytotoxicity;GO:0032733 positive regulation of interleukin-10 production;GO:0050868 negative regulation of T cell activation", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q495A1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43660-1", "uniprot_id": [ { "id": "PLRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43660", "type": "external" } ], "mass": 57194.0, "length": 514, "protein_name": "Pleiotropic regulator 1", "gene_name": "PLRG1", "organism": "Human", "refseq_name": "pleiotropic regulator 1 isoform 2", "refseq_ac": [ { "id": "NP_001188493", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188493", "type": "external" } ], "gene_names_uniprotkb": "PLRG1", "gene_names_refseq": "Cwc1; PLRG1; PRL1; PRP46; PRPF46; TANGO4", "protein_names_uniprotkb": "Pleiotropic regulator 1", "protein_names_refseq": "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis); pleiotropic regulator 1 isoform 2; transport and golgi organization 4 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:5356); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 208, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10882114;11014198;11101529;11233976;11237011;11544257;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14576297;14625303;14713954;14762106;15084397;16314458;16809785;17095540;17332742;17606899;18322460;18452278;18593880;18991276;19103666;19165350;19531498;19536130;20068231;20176811;20423332;20980672;21536652;2176635;21872626;21911577;21993680;22110043;22365833;22424782;22645359;22898188;22959432;22961380;23022480;23186163;23222130;23236153;23345524;23481700;23584533;24196718;24304693;24448447;24714562;24715725;24737827;24914973;25418920;25555158;25576301;2558966;25645385;25810538;26092250;26154972;26375851;26385511;26420826;26728094;26758079;26811146;26929215;26969736;26992070;27108190;27377154;27459055;27543614;27600516;27683217;27846572;27920218;28062851;28063628;28076346;28218747;28228285;28502770;28514659;28649982;28781166;28832583;28834231;28904123;29242379;29301961;29331515;29351928;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29789417;29902443;30315122;30315277;30379171;30410026;30429286;30484775;30524438;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31222486;31409651;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33123756;33141586;33177556;33243851;33298915;33446560;33509932;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34301950;34433824;34509645;34725712;34822310;34932366;35008409;35051231;35215846;35254053;35318648;35385551;35561310;35580925;36010968;36215666;36241641;36284347;37217939;3757028;37938771;38665916;39400789;39531497;40596516;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529;9765207", "class_list": "", "function": "Involved in pre-mRNA splicing as component of the spliceosome (PubMed:28076346, PubMed:28502770). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing (PubMed:11101529, PubMed:11544257). 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]; Study includes the isolation of a cDNA encoding the human PRL1 homolog., [RefSeq, PubMed]; The interaction between CDC5L and PLRG1 is essential for pre-mRNA splicing Erratum:[Nucleic Acids Res. 2022 Aug 12;50(14):8400. doi: 10.1093/nar/gkac623. PMID: 35848918], [RefSeq, PubMed]; This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]; YBX1 promotes epithelial-mesenchymal transition in hepatocellular carcinoma via transcriptional regulation of PLRG1. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B3KMK4;Q3KQY5;Q8WUD8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0031965 nuclear membrane;GO:0001650 fibrillar center", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 22.0, "record_id": "O43660-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T0N1-1", "uniprot_id": [ { "id": "CFA70_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T0N1", "type": "external" } ], "mass": 125721.0, "length": 1121, "protein_name": "Cilia- and flagella-associated protein 70", "gene_name": "CFAP70", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 70 isoform X4", "refseq_ac": [ { "id": "XP_006717667", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006717667", "type": "external" } ], "gene_names_uniprotkb": "CFAP70; TTC18", "gene_names_refseq": "CFAP70; SPGF41; TTC18", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 70; TPR repeat protein 18; Tetratricopeptide repeat protein 18", "protein_names_refseq": "cilia- and flagella-associated protein 70 isoform X4", "tax_id": 9606, "disease": "oligoasthenoteratozoospermia (Disease Ontology:DOID:0070311); spermatogenic failure 41 (Disease Ontology:DOID:0111912)", "pathway": " (hsa:118491)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;31621862;31844290;32350084;32488085;33968037;35051231;37352829;39894887", "class_list": "", "function": "Axoneme-binding protein that plays a role in the regulation of ciliary motility and cilium length. Essential for the assembly of the sperm flagellum and the correct shaping of the sperm head, during spermiogenesis.Contributes in part to flagellar biogenesis by stabilizing QRICH2, promoting the cytoplasmic preassembly of CFAP61 and CFAP91, and regulating the manchette localization of axoneme-associated proteins such as IFT88, DNAI1 and CFAP61., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JIZ9;Q5T0M4;Q5T0M9;Q5T0N0;Q69YH9;Q8IYZ8;Q8N7D5;Q8NI30;Q8NI31", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031514 motile cilium;GO:0070062 extracellular exosome;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0036064 ciliary basal body", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0060271 cilium assembly;GO:0003341 cilium movement;GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5T0N1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZSB9-1", "uniprot_id": [ { "id": "ZBT49_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZSB9", "type": "external" } ], "mass": 85061.0, "length": 765, "protein_name": "Zinc finger and BTB domain-containing protein 49", "gene_name": "ZBTB49", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 49", "refseq_ac": [ { "id": "NP_001317554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317554", "type": "external" } ], "gene_names_uniprotkb": "ZBTB49; ZNF509", "gene_names_refseq": "ZBTB49; ZNF509", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 49; Zinc finger protein 509", "protein_names_refseq": "zinc finger and BTB domain-containing protein 49; zinc finger protein 509", "tax_id": 9606, "disease": "", "pathway": " (hsa:166793)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;25245946;26992070;28218747;28757384;29437277;29493099;30410026;31844290;32938616;33912179;33968037;36010968", "class_list": "", "function": "Activates RB1 transcription most probably by antagonizing ZBTB17 repression of RB1. Does not bind directly RB1 promoter., [UniProtKB, PubMed]; Binds CDKN1A promoter and activates its transcription; this activity is further potentiated in the presence of EP300 (synergistic) and ZBTB17/Miz-1 (additive)., [UniProtKB, PubMed]; Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription., [UniProtKB, PubMed]; Two major ZNF509 isoforms are induced by p53 and act as downstream executioners of cell-cycle arrest by inducing expression of p21 and RB., [RefSeq, PubMed]; ZNF509S1 modulation of p53 activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K936;Q32ML0;Q59FJ4;Q5EBN0;Q8TB80", "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:0043565 sequence-specific DNA binding;GO:0001223 transcription coactivator binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0002682 regulation of immune system process", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q6ZSB9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15762-1", "uniprot_id": [ { "id": "CD226_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15762", "type": "external" } ], "mass": 38614.0, "length": 336, "protein_name": "CD226 antigen", "gene_name": "CD226", "organism": "Human", "refseq_name": "CD226 antigen isoform a precursor", "refseq_ac": [ { "id": "NP_001290547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290547", "type": "external" } ], "gene_names_uniprotkb": "CD226; DNAM1", "gene_names_refseq": "CD226; DNAM-1; DNAM1; PTA1; TLiSA1", "protein_names_uniprotkb": "CD226 antigen; DNAM-1; DNAX accessory molecule 1", "protein_names_refseq": "CD226 antigen isoform a precursor; CD226 antigen; DNAX accessory molecule-1; T lineage-specific activation antigen 1 antigen; adhesion glycoprotein; platelet and T cell activation antigen 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10666); (R-HSA-198933)", "pathway_count": 2, "publication_count": 122, "publication_id_list": "10499918;10746781;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12847109;12913096;14676297;14719373;14970179;15034010;15039383;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15684041;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16887814;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18088087;18209062;18234675;18593354;19149696;19359216;19592130;19690332;20730098;21241660;21800138;21841309;21877119;22396535;23090970;23695528;23929856;24190977;24305946;25502872;25703557;25716998;26154972;26284469;26300885;26755705;27846572;27920218;28063628;28228285;28832583;28904123;29242379;29508533;29557506;29632046;30315122;30429286;30591568;31154438;31253644;31844290;31998317;32162841;32350084;32502341;32983136;33043033;35051231;35154160;35580925;37074911;38424741;38592213;39231385;7531291;7542404;8178173;8673704;8995416;9285412;9314561;9700512;9712030;9730896", "class_list": "", "function": "CD226 is involved in LFA-1-mediated costimulatory signals for triggering naive T cell differentiation and proliferation., [RefSeq, PubMed]; CD226 mediates platelet and megakaryocytic cell adhesion to vascular endothelial cells, [RefSeq, PubMed]; CD226 promoters P1 and P2 are regulated by Ets-1 and AP-1, [RefSeq, PubMed]; Cell surface receptor that plays an important role in the immune system, particularly in intercellular adhesion, lymphocyte signaling, cytotoxicity and lymphokine secretion mediated by cytotoxic T-cells and NK cells. Functions as a costimulatory receptor upon recognition of target cells, such as virus-infected or tumor cells. Upon binding to its ligands PVR/CD155 or NECTIN2/CD112 on target cells, promotes the cytotoxic activity of NK cells and CTLs, enhancing their ability to kill these cells. Mechanistically, phosphorylation by Src kinases such as LYN of FYN, enables binding to adapter GRB2, leading to activation of VAV1, PI3K and PLCG1. Promotes also activation of kinases ERK and AKT, as well as calcium fluxes., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Data show that both PVR and Nectin-2 represent specific ligands for the DNAM-1 triggering receptor., [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]; Impact of the Multiple Sclerosis-Associated Genetic Variant CD226 Gly307Ser on Human CD8 T-Cell Functions., [RefSeq, PubMed]; Increased levels of circulating soluble CD226 in multiple sclerosis., [RefSeq, PubMed]; This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2R818", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0050839 cell adhesion molecule binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0045121 membrane raft;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0050862 positive regulation of T cell receptor signaling pathway;GO:0045954 positive regulation of natural killer cell mediated cytotoxicity;GO:0008037 cell recognition", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q15762-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXS6-1", "uniprot_id": [ { "id": "NUSAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXS6", "type": "external" } ], "mass": 49452.0, "length": 441, "protein_name": "Nucleolar and spindle-associated protein 1", "gene_name": "NUSAP1", "organism": "Human", "refseq_name": "nucleolar and spindle-associated protein 1 isoform 4", "refseq_ac": [ { "id": "NP_001230071", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230071", "type": "external" } ], "gene_names_uniprotkb": "NUSAP1; ANKT; BM-037; PRO0310", "gene_names_refseq": "ANKT; BM037; LNP; NUSAP1; NUSAP; PRO0310p1; Q0310; SAPL", "protein_names_uniprotkb": "Nucleolar and spindle-associated protein 1; NuSAP", "protein_names_refseq": "nucleolar and spindle-associated protein 1 isoform 4; nucleolar protein ANKT", "tax_id": 9606, "disease": "", "pathway": " (hsa:51203)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "11237011;11483580;12963707;17276916;17618083;17924679;18077418;18212344;18452278;18669648;19007248;19413330;19608861;19651622;19690332;19691289;20053754;20068230;20068231;21130744;21782797;22101338;22349817;22706990;23186163;23481700;24366607;24714562;24715725;25576301;25892735;26154972;26375851;26728094;26992070;27600516;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29786170;30315122;30484775;31217245;31291378;31373491;31530632;31844290;32157095;32350084;32357974;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34561969;34932366;35051231;35251023;35318648;35580925;36215666;36241641;37047232;37200136;37217939;38117947;38229038;39894887;40596516", "class_list": "", "function": "Interphase NuSAP-chromatin interaction suggests additional functions for NuSAP, as recently identified for other nuclear spindle assembly factors with a role in gene expression or DNA damage response., [RefSeq, PubMed]; Microtubule-associated protein with the capacity to bundle and stabilize microtubules (By similarity). May associate with chromosomes and promote the organization of mitotic spindle microtubules around them., [UniProtKB, PubMed]; NUSAP1 Binds ILF2 to Modulate R-Loop Accumulation and DNA Damage in Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009]., [RefSeq]; NUSAP1 promotes pancreatic ductal adenocarcinoma progression by drives the epithelial-mesenchymal transition and reduces AMPK phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; NUSAP1 regulates basal cell carcinoma migration, invasion and DNA damage through activation of the Hedgehog signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; NuSAP is a novel biomarker for prostate cancer recurrence after surgery and its overexpression appears to be driven in part by E2F1 activation, [RefSeq, PubMed]; NuSAP regulates microtubule flux and Kif2A localization to ensure accurate chromosome congression., [RefSeq, PubMed]; NuSAP1 is recognized as an immunogenic antigen in 65% of patients with AML following allogeneic HCT and suggests a tumor antigen role., [RefSeq, PubMed]; Phosphorylation of NuSAP by Cdk1 is an important mechanism to regulate microtubule dynamics during cell cycle progression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 27, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DDF1;E7ERR5;J3KN21;Q53GW2;Q8TBT4;Q96E58;Q96FJ1;Q9GZM9;Q9NZ85;Q9UI70", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005694 chromosome;GO:0072686 mitotic spindle", "go_biological_process": "GO:0007076 mitotic chromosome condensation;GO:0000281 mitotic cytokinesis;GO:0040001 establishment of mitotic spindle localization;GO:0045840 positive regulation of mitotic nuclear division;GO:0000070 mitotic sister chromatid segregation", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9BXS6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26373-1", "uniprot_id": [ { "id": "RL13_HUMAN", "url": "https://www.uniprot.org/uniprot/P26373", "type": "external" } ], "mass": 24261.0, "length": 211, "protein_name": "Large ribosomal subunit protein eL13", "gene_name": "RPL13", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL13 isoform 1", "refseq_ac": [ { "id": "NP_000968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000968", "type": "external" } ], "gene_names_uniprotkb": "RPL13; BBC1; SW-cl.46", "gene_names_refseq": "BBC1; D16S444E; D16S44E; L13; RPL13; SEMDIST; eL13", "protein_names_uniprotkb": "Large ribosomal subunit protein eL13; 60S ribosomal protein L13; Breast basic conserved protein 1", "protein_names_refseq": "60S ribosomal protein L13; breast basic conserved 1; breast basic conserved protein 1; large ribosomal subunit protein eL13 isoform 1; large ribosomal subunit protein eL13", "tax_id": 9606, "disease": "spondyloepimetaphyseal dysplasia (Disease Ontology:DOID:0080027); congenital heart disease (Disease Ontology:DOID:1682); spondyloepimetaphyseal dysplasia, Isidor-Toutain type (MONDO:MONDO:0032885)", "pathway": " (hsa:6137); (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": 316, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12042320;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1301162;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15104674;15275975;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17081983;17142313;17189298;17267404;17308301;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18691976;18974281;19007248;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19651622;19691289;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20112406;20305658;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21740066;22072790;22121020;22190735;22195017;22544926;22645359;22869377;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25114211;25132172;25242263;25418920;25469497;25505266;25525153;25576301;25578875;25645385;25802875;25810538;25892735;25969445;26154972;26237581;26375851;26728094;26758079;26992070;27526673;27600516;27726376;27846572;27862975;27920218;28063628;28065601;28132843;28218747;28228285;28467828;28685749;28832583;28834231;28855257;28904123;29242379;29314611;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632312;29632711;29786170;29789417;30192525;30244831;30293783;30315122;30410026;30429286;30524438;30779550;30804176;30833945;31011209;31020640;31154438;31217245;31222486;31611695;31630789;31844290;31848261;31937595;31998317;32099016;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32579943;32669547;32897882;32916022;32938616;32983136;33043033;33091337;33123756;33141586;33214551;33298915;33392160;33406423;33537174;33592498;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34357683;34433824;34509645;34561969;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35526384;35580925;36010968;36215666;36241641;36284347;36302773;36580660;37217939;37676773;37938771;38665916;39395807;39990658;40914422;40930100;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:31630789, PubMed:32669547). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules (Probable). The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain (Probable). The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (Probable). As part of the LSU, it is probably required for its formation and the maturation of rRNAs (PubMed:31630789). Plays a role in bone development (PubMed:31630789)., [UniProtKB, PubMed, PubMed, PubMed]; Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "B4DLX3;F5H1S2;Q3KQT8;Q567Q8;Q9BPX0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0060348 bone development;GO:0006941 striated muscle contraction", "synthesized_glycan_count": 0, "hit_score": 32.2, "record_id": "P26373-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05707-1", "uniprot_id": [ { "id": "COEA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05707", "type": "external" } ], "mass": 193515.0, "length": 1796, "protein_name": "Collagen alpha-1(XIV) chain", "gene_name": "COL14A1", "organism": "Human", "refseq_name": "collagen alpha-1(XIV) chain isoform 1 precursor", "refseq_ac": [ { "id": "NP_066933", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066933", "type": "external" } ], "gene_names_uniprotkb": "COL14A1; UND", "gene_names_refseq": "COL14A1; UND", "protein_names_uniprotkb": "Collagen alpha-1(XIV) chain; Undulin", "protein_names_refseq": "collagen alpha-1(XIV) chain isoform 1 precursor; collagen, type XIV, alpha 1; undulin (fibronectin-tenascin-related)", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); dementia (Disease Ontology:DOID:1307); alcohol use disorder (Disease Ontology:DOID:1574); transient cerebral ischemia (Disease Ontology:DOID:224); sensory peripheral neuropathy (Disease Ontology:DOID:2491); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:7373); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-2022090); (R-HSA-8948216)", "pathway_count": 5, "publication_count": 120, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10049780;10479448;10551873;10596943;10809722;10934207;10966814;11013208;11119712;11237011;11577169;11927537;12473679;12475640;12482924;12579531;12646579;1323838;1400327;14500733;14602708;15005656;15044469;15140213;15257288;15265795;1577494;15837520;15950618;16591531;16825197;1704217;17088321;171650;1716629;18487197;18491316;18622425;19075007;19159218;19693541;2005102;20470363;21081667;21593211;2169335;2187872;21878990;21935455;21967573;22241472;22382088;2253219;22972947;2307289;23584533;2537292;2543975;2548603;2551898;25840998;27726376;27846572;2834383;2845110;29242379;29393594;29485866;29557506;29741879;29786170;29789417;3038863;30459171;30784271;31092671;31154438;31611695;3173483;31844290;31848261;32157095;3223920;33592498;34185709;35051231;35318648;35580925;36241641;36284347;37074911;37938771;38253038;38665916;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7827751;7890717;8207089;8463259;8576151;8920930;8999957;9008168;9054364;9092507;9427527;9545296;9560306;9582318;9651395;9856810", "class_list": "glycogene", "function": "Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact with other matrix molecules or cell surface receptors (By similarity)., [UniProtKB, PubMed]; The intima+media of IPAH vessels, collagens (COL4A5, COL14A1, and COL18A1), matrix metalloproteinase (MMP) 19, and a disintegrin and metalloprotease (ADAM) 33 were higher expressed, whereas MMP10, ADAM17, TIMP1, and TIMP3 were less abundant., [RefSeq, PubMed]; This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 7, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 21, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 21, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2289, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 107, "disease_count": 7, "glyco_site_count": 30, "binding_glycan_count": 0, "secondary_ac_list": "B2RU07;O00260;O00261;O00262;Q05708;Q5XJ18;Q96C67;Q9UDF6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0030674 protein-macromolecule adaptor activity;GO:0005518 collagen binding;GO:0005201 extracellular matrix structural constituent;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005581 collagen trimer", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0098609 cell-cell adhesion;GO:0030199 collagen fibril organization;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 25.4, "record_id": "Q05707-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FZ7-1", "uniprot_id": [ { "id": "CHMP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FZ7", "type": "external" } ], "mass": 23485.0, "length": 201, "protein_name": "Charged multivesicular body protein 6", "gene_name": "CHMP6", "organism": "Human", "refseq_name": "charged multivesicular body protein 6", "refseq_ac": [ { "id": "NP_078867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078867", "type": "external" } ], "gene_names_uniprotkb": "CHMP6; VPS20", "gene_names_refseq": "CHMP6; VPS20", "protein_names_uniprotkb": "Charged multivesicular body protein 6; Chromatin-modifying protein 6; Vacuolar protein sorting-associated protein 20; Vps20; hVps20", "protein_names_refseq": "charged multivesicular body protein 6; chromatin-modifying protein 6; hVps20; vacuolar protein sorting-associated protein 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:79643); (R-HSA-162588); (R-HSA-1632852); (R-HSA-5620971); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710); (R-HSA-9668328); (R-HSA-9679504); (R-HSA-9694676)", "pathway_count": 10, "publication_count": 102, "publication_id_list": "11096062;11237011;11563910;11825910;14505570;14519844;14583093;14624836;15075231;15187094;15218037;15331731;15473846;15511219;16371348;16897187;16963840;16973552;17547705;17618624;18321988;18439900;18606141;19211835;19322194;19527882;19590496;19640981;19855179;19859801;19898463;20059746;20713597;20921139;21177865;21205641;21238931;21258367;21383122;21460621;21543490;21757351;21799305;21819378;2204156;22170151;22682742;22762019;23186163;23202584;23266279;23305486;23685627;23727157;23884233;24747438;24954904;25135833;25255805;25484072;25568151;25961502;26040712;26040713;26375003;26508369;27281216;27383986;27418190;2799391;28045099;28242692;28392147;28459430;28832583;28855257;29177860;29242379;29539421;29557506;29891674;29898893;29990470;30143555;30513301;30976076;31113851;31231549;31611695;32109412;32188940;32350084;32367036;32820063;32938616;33592498;33968037;34357683;34433824;35251023;39305302;7628435", "class_list": "", "function": "ELK4 targets CHMP6 to inhibit ferroptosis and enhance malignant properties of skin cutaneous melanoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. In the ESCRT-III complex, it probably serves as an acceptor for the ESCRT-II complex on endosomal membranes., [UniProtKB]; This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "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": "A8K7U0;Q53FU4;Q9HAE8", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0000815 ESCRT III complex;GO:0005828 kinetochore microtubule;GO:0000421 autophagosome membrane;GO:0005635 nuclear envelope;GO:0005643 nuclear pore", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0031468 nuclear membrane reassembly;GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex;GO:0061763 multivesicular body-lysosome fusion", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q96FZ7-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43529-1", "uniprot_id": [ { "id": "CHSTA_HUMAN", "url": "https://www.uniprot.org/uniprot/O43529", "type": "external" } ], "mass": 42207.0, "length": 356, "protein_name": "Carbohydrate sulfotransferase 10", "gene_name": "CHST10", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 10", "refseq_ac": [ { "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845", "type": "external" } ], "gene_names_uniprotkb": "CHST10", "gene_names_refseq": "CHST10; HNK-1ST; HNK1ST", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 10; 2.8.2.-; HNK-1 sulfotransferase; HNK-1ST; HNK1ST; HuHNK-1ST", "protein_names_refseq": "HNK-1 sulfotransferase; carbohydrate sulfotransferase 10; huHNK-1ST", "tax_id": 9606, "disease": "", "pathway": " (hsa:9486); (R-HSA-975578); (R-HSA-9939291)", "pathway_count": 3, "publication_count": 102, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10094192;10343104;10464296;10545611;10814706;10988300;11237011;11445554;11592034;11709191;11741828;12080076;12417412;12966029;14627679;15121789;16754854;17030669;17034757;17044012;17175120;17466984;18195152;18431515;19470764;19587235;20950796;21828042;22020094;22223806;22522420;22801424;23125099;23217329;23269668;23359570;23390185;23481700;23584533;24190977;24714562;25218447;25279697;25279699;25418920;25576301;25645385;26687144;26728094;26811146;26923585;26992070;27130732;27493216;27600516;27733679;27846572;27909055;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29477842;29632046;30410026;30429286;30833945;31217245;31530632;31844290;31949166;32149355;32157095;32265295;32350084;32387766;32938616;33912179;33936100;33968037;34015330;34171305;34357683;35051231;35251023;36010968;7635144;7650030;8524845;8808595;9478973;9949196", "class_list": "glycan-modifying enzyme;glycogene;glycosyltransferase", "function": "Catalyzes the transfer of sulfate from 3'-phosphoadenylyl sulfate (PAPS) to position 3 of terminal glucuronic acid of both protein- and lipid-linked oligosaccharides. Participates in biosynthesis of HNK-1 carbohydrate structure 3-O-sulfo-beta-D-GlcA-(1->3)-beta-D-Gal-(1->4)-D-GlcNAc-R, a sulfated glucuronyl-lactosaminyl residue carried by many neural recognition molecules, which is involved in cell interactions during ontogenetic development and in synaptic plasticity in the adult. May be indirectly involved in synapse plasticity of the hippocampus, via its role in HNK-1 biosynthesis (PubMed:9478973). Sulfates terminal glucuronyl residue of the laminin globular (LG)-domain binding epitope on DAG1/alpha-dystroglycan and prevents further polymerization by LARGE1 glycosyltransferase. Likely defines the chain length of LG epitope, conferring binding specificity to extracellular matrix components (PubMed:32149355). Plays a role in down-regulating the steroid hormones. Sulfates glucuronidated estrogens and androgens with an impact in hormone cycle and fertility. Has a preference for glucuronyl moiety at the 3-hydroxyl group of a sterol ring rather than the 17-hydroxyl group, showing high catalytic efficiency for 17beta-estradiol 3-O-(beta-D-glucuronate) and dehydroepiandrosterone 3-O-(beta-D-glucuronate) hormones (PubMed:23269668)., [UniProtKB, PubMed, PubMed, PubMed]; HNK-1ST may be responsible for regulating the sorting of alpha- and beta-TM., [RefSeq, PubMed]; Identification of a novel member of HNK-1 family of sulfotransferases, [RefSeq, PubMed]; Novel role for HNK-1ST as a tumor suppressor controlling the functional glycans on alpha-DG and the importance of sulfate transfer in the glycosylation of alpha-DG., [RefSeq, PubMed]; Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; These results suggest that HNK-1ST is involved in 3-O-sulfation of the terminal GlcA of the linkage tetrasaccharide which acts as an inhibitory signal for the initiation of chondroitin sulfate chain biosynthesis on thrombomodulin., [RefSeq, PubMed]; This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011]., [RefSeq]; We show that CHST10 is also regulated by RARgamma in a significant subset of human melanoma cells, and three-dimensional cell culture migration assays suggest that CHST10 functions as a suppressor of invasiveness, but not proliferation, in these cells, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 10, "reported_glycation": 0, "reported_snv": 426, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q53T18", "ec_number_list": [ { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0016232 HNK-1 sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0016051 carbohydrate biosynthetic process;GO:0007155 cell adhesion;GO:0006493 protein O-linked glycosylation;GO:0008209 androgen metabolic process", "synthesized_glycan_count": 16, "hit_score": 11.0, "record_id": "O43529-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000010000.101.11010", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99633-1", "uniprot_id": [ { "id": "PRP18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99633", "type": "external" } ], "mass": 39860.0, "length": 342, "protein_name": "Pre-mRNA-splicing factor 18", "gene_name": "PRPF18", "organism": "Human", "refseq_name": "pre-mRNA-splicing factor 18 isoform 2", "refseq_ac": [ { "id": "NP_003666", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003666", "type": "external" } ], "gene_names_uniprotkb": "PRPF18; HPRP18", "gene_names_refseq": "PRP18; PRPF18; hPrp18", "protein_names_uniprotkb": "Pre-mRNA-splicing factor 18; PRP18 homolog; hPRP18", "protein_names_refseq": "PRP18 homolog; PRP18 pre-mRNA processing factor 18 homolog(PRPF18); pre-mRNA-splicing factor 18 isoform 2; pre-mRNA-splicing factor 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:8559); (R-HSA-72163)", "pathway_count": 2, "publication_count": 118, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11823439;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16385451;16809785;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;20423332;20980672;21536652;2176635;22110043;22213562;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24366607;24448447;24714562;24715725;24737827;24914973;25555158;2558966;26154972;26385511;26420826;26728094;26969736;26992070;27377154;27459055;27683217;27846572;27852861;27920218;28062851;28063628;28076346;28228285;28300201;28502770;28781166;28832583;28904123;29242379;29301961;29360106;29361316;29393594;29493099;29557506;29632046;2963332;29786170;30315277;30705154;30728453;30765414;30975767;31409651;31844290;32157095;32179686;32329775;32494006;32502341;32938616;32983136;33243851;33298915;33446560;33592498;33691108;33936100;33968037;34185709;34301950;34561969;34822310;35051231;35385551;35580925;36010968;3757028;8566756;8608946;9000057;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Participates in the second step of pre-mRNA splicing., [UniProtKB, PubMed]; Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]., [RefSeq]; Presented is solution structure of the splicing factor motif of hPrp18, which forms a compact fold with two a helices interacting head-to-tail and a fixed linker loop., [RefSeq, PubMed]; These results validated the association of two previously known skin pigmentation genes, SLC24A5 (minimum p = 2.62 x 10(-14), rs1426654) and SLC45A2 (minimum p = 9.71 x 10(-10), rs16891982), and revealed the intergenic region of BEND7 and PRPF18 as a novel locus associated with this trait (minimum p = 4.58 x 10(-9), rs6602666). Publication Status: Online-Only, [RefSeq, PubMed]; We identified the pre-mRNA processing factor Prp18 as a stimulatory factor for influenza virus RNA synthesis. Prp18 facilitates the elongation reaction of viral polymerases by preventing the deleterious annealing of newly synthesized RNA to the template. Prp18 functions as a chaperone for NP to stimulate the formation of NP-RNA complexes. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T9P9;Q9BUI9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex;GO:0005682 U5 snRNP", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0000350 generation of catalytic spliceosome for second transesterification step", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q99633-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJW9-1", "uniprot_id": [ { "id": "CD8B2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJW9", "type": "external" } ], "mass": 23703.0, "length": 210, "protein_name": "T-cell surface glycoprotein CD8 beta-2 chain", "gene_name": "CD8B2", "organism": "Human", "refseq_name": "T-cell surface glycoprotein CD8 beta-2 chain isoform 1 precursor", "refseq_ac": [ { "id": "NP_001336656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001336656", "type": "external" } ], "gene_names_uniprotkb": "CD8B2; CD8BP", "gene_names_refseq": "CD8B2; CD8BP", "protein_names_uniprotkb": "T-cell surface glycoprotein CD8 beta-2 chain; CD8b pseudogene", "protein_names_refseq": "CD8 antigen, beta polypeptide pseudogene; CD8b molecule pseudogene; CD8b pseudogene; CD8b2 molecule; T-cell surface glycoprotein CD8 beta-2 chain isoform 1 precursor; putative T-cell surface glycoprotein CD8 beta-2 chain", "tax_id": 9606, "disease": "", "pathway": " (hsa:927)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;1541829;8436166", "class_list": "", "function": "Identifies cytotoxic/suppressor T-cells that interact with MHC class I bearing targets. CD8 is thought to play a role in the process of T-cell mediated killing (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0A2R8Y7N9", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity;GO:0042288 MHC class I protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0050776 regulation of immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NJW9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQD3-1", "uniprot_id": [ { "id": "KXDL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQD3", "type": "external" } ], "mass": 19668.0, "length": 176, "protein_name": "KxDL motif-containing protein 1", "gene_name": "KXD1", "organism": "Human", "refseq_name": "kxDL motif-containing protein 1", "refseq_ac": [ { "id": "NP_001165419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165419", "type": "external" } ], "gene_names_uniprotkb": "KXD1; C19orf50", "gene_names_refseq": "BORCS4; C10orf50; C19orf50; KXD1; KXDL; MST096; MSTP096", "protein_names_uniprotkb": "KxDL motif-containing protein 1", "protein_names_refseq": "BLOC-1 related complex subunit 4; UPF0459 protein C19orf50; kxDL motif-containing protein 1", "tax_id": 9606, "disease": "Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753)", "pathway": " (hsa:79036)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;22554196;25418920;25576301;25645385;25898167;26811146;26992070;27600516;27862975;27920218;28063628;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30315122;30410026;30429286;31154438;31530632;31844290;31848261;31998317;32157095;32265295;32387766;32488085;32897882;32983136;33123756;33298915;33592498;33717175;33968037;34171305;34561969;35580925;36717601", "class_list": "", "function": "As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May be involved in the biogenesis of lysosome-related organelles such as melanosomes (By similarity)., [UniProtKB, UniProtKB, PubMed]; BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain. Publication Status: Online-Only, [RefSeq, PubMed]; KXD1 interacts with BLOS1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "O76098", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098574 cytoplasmic side of lysosomal membrane;GO:0099078 BORC complex", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0051036 regulation of endosome size;GO:0032418 lysosome localization;GO:0072384 organelle transport along microtubule;GO:0062196 regulation of lysosome size", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9BQD3-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12860-1", "uniprot_id": [ { "id": "CNTN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12860", "type": "external" } ], "mass": 113320.0, "length": 1018, "protein_name": "Contactin-1", "gene_name": "CNTN1", "organism": "Human", "refseq_name": "contactin-1 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001242992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242992", "type": "external" } ], "gene_names_uniprotkb": "CNTN1", "gene_names_refseq": "CMYO12; CMYP12; CNTN1; F3; GP135; MYPCN", "protein_names_uniprotkb": "Contactin-1; Glycoprotein gp135; Neural cell surface protein F3", "protein_names_refseq": "contactin-1 isoform 3 precursor; glycoprotein gP135; neural cell surface protein F3", "tax_id": 9606, "disease": "Compton-North congenital myopathy (Disease Ontology:DOID:0080101); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:1272); (R-HSA-2122948); (R-HSA-2979096); (R-HSA-373760); (R-HSA-447043)", "pathway_count": 5, "publication_count": 115, "publication_id_list": "10.1101/2023.09.13.557529;10206645;10551863;10879540;10882063;10934472;10958687;11006133;11152476;11171333;11226752;11237011;11518718;11740940;11823422;11861489;12209127;12354787;12530964;14567914;14978216;15569487;15574878;15652348;15760269;15824097;15829515;15965470;16000162;16093323;16284625;16335952;16773578;16959974;17003037;17028573;17401372;18043734;18077452;18237417;18296446;1840698;18418349;18452278;18469519;18628966;18700817;18824583;18824585;19000840;19026398;19139490;19151708;19524514;19531498;19567869;19726682;20133774;20156974;2026173;21152083;21632553;22162134;22658935;22658936;23090970;24190977;24715725;24842903;27600516;28657654;28855257;29242379;29391424;29393594;29557506;29563135;29856954;29856955;30833945;31154438;3153318;32157095;32502341;33912179;33968037;34171305;35051231;35251023;36062492;36543540;36734072;36893151;37074911;37217939;37437228;37938771;7959734;803282;8164510;8313469;8922386;9207787;9207788;9244301;9315665;9371782;9384573;9462510;9590294;9604939;9620803;9651681;9804856;9819428", "class_list": "", "function": "Contactin-1 links autoimmune neuropathy and membranous glomerulonephritis. Publication Status: Online-Only, [RefSeq, PubMed]; Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity)., [UniProtKB]; Key Molecules in Bladder Cancer Affect Patient Prognosis and Immunotherapy Efficacy: Further Exploration for CNTN1 and EMP1., [RefSeq, PubMed]; Neuroaxonal and Glial Markers in Patients of the Same Age With Multiple Sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Neurofilament-light and contactin-1 association with long-term brain atrophy in natalizumab-treated relapsing-remitting multiple sclerosis., [RefSeq, PubMed]; The molecular mechanism of gamma-aminobutyric acid against AD: the role of CEBPalpha/circAPLP2/miR-671-5p in regulating CNTN1/2 expression. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 77, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 21, "disease_count": 2, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A8K0H9;A8K0Y3;Q12861;Q14030;Q7M4P0;Q8N466", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0032289 central nervous system myelin formation;GO:0007155 cell adhesion;GO:0007219 Notch signaling pathway;GO:0007626 locomotory behavior;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q12860-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43593-1", "uniprot_id": [ { "id": "HAIR_HUMAN", "url": "https://www.uniprot.org/uniprot/O43593", "type": "external" } ], "mass": 127495.0, "length": 1189, "protein_name": "Lysine-specific demethylase hairless", "gene_name": "HR", "organism": "Human", "refseq_name": "lysine-specific demethylase hairless isoform a", "refseq_ac": [ { "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135", "type": "external" } ], "gene_names_uniprotkb": "HR", "gene_names_refseq": "ALUNC; AU; HR; HSA277165; HYPT4; KDM3D; MUHH1; MUHH", "protein_names_uniprotkb": "Lysine-specific demethylase hairless; 1.14.11.65; [histone H3]-dimethyl-L-lysine(9) demethylase hairless", "protein_names_refseq": "[histone H3]-dimethyl-L-lysine(9) demethylase hairless; hair growth associated; hairless homolog; lysine demethylase 3D; lysine-specific demethylase hairless isoform a; lysine-specific demethylase hairless; protein hairless", "tax_id": 9606, "disease": "alopecia universalis (Disease Ontology:DOID:0050634); atrichia with papular lesions (Disease Ontology:DOID:0060689); hypotrichosis 4 (Disease Ontology:DOID:0110701); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); alcohol use disorder (Disease Ontology:DOID:1574); proteinuria (Disease Ontology:DOID:576); alopecia (Disease Ontology:DOID:987)", "pathway": " (hsa:55806)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10051399;11237011;11410842;12406339;16959974;19122663;20055871;22898188;24334705;24715725;24961381;29557506;30191601;30809827;31844290;32161166;32488085;32796265;33968037;34171305;35051231;35580925;9445480;9736769;9758627", "class_list": "", "function": "A pathogenic initiation codon mutation in U2HR, an inhibitory upstream ORF in the 5' UTR of the gene encoding the human hairless homolog (HR). Erratum:[Nat Genet. 2009 Jun;41(6):762], [RefSeq, PubMed]; Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle., [UniProtKB, PubMed]; Impact of a High Coverage Vaccination Rate on Human Papillomavirus Infection Prevalence in Young Women: A Cross-sectional Study., [RefSeq, PubMed]; Study in a large, five-generation Han Chinese family with several patients presenting with Marie Unna hereditary hypotrichosis (MUHH) and multiple familial trichoepithelioma (MFT) revealed that the c.1A>G mutation in HR (U2HR) was present in all MUHH patients. No pathogenic variants were found in EPS8L3 or CYLD in any family members but FABP12 (rs536105592 G>A) was identified in the patients with both MUHH and MFT., [RefSeq, PubMed]; The first time that a mutation in U2HR has been identified in families from the Middle East, [RefSeq, PubMed]; These results suggest that transcriptional repression or mutation of HR may contribute to glioblastoma pathogenesis, which uncovers a role of HR in brain and suggests that modulating HR activity in glioblastoma may be a therapeutic strategy., [RefSeq, PubMed]; This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6GS30;Q96H33;Q9NPE1", "ec_number_list": [ { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.99.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.66", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0031490 chromatin DNA binding;GO:0003712 transcription coregulator activity;GO:0032454 histone H3K9 demethylase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000785 chromatin;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "O43593-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51172-3", "uniprot_id": [ { "id": "SCNND_HUMAN", "url": "https://www.uniprot.org/uniprot/P51172", "type": "external" } ], "mass": 87850.0, "length": 802, "protein_name": "Epithelial sodium channel subunit delta", "gene_name": "SCNN1D", "organism": "Human", "refseq_name": "epithelial sodium channel subunit delta", "refseq_ac": [ { "id": "NP_001123885", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123885", "type": "external" } ], "gene_names_uniprotkb": "SCNN1D; DNACH", "gene_names_refseq": "ENaCdelta; ENaCd; SCNED; SCNN1D; dNaCh", "protein_names_uniprotkb": "Epithelial sodium channel subunit delta; Amiloride-sensitive sodium channel subunit delta; Delta-ENaC; Delta-NaCH; ENaCD; Epithelial Na(+) channel subunit delta; Nonvoltage-gated sodium channel 1 subunit delta; SCNED", "protein_names_refseq": "amiloride-sensitive sodium channel subunit delta; delta-ENaC; delta-NaCH; epithelial Na(+) channel subunit delta; epithelial sodium channel subunit delta; nonvoltage-gated sodium channel 1 subunit delta; sodium channel epithelial 1 delta subunit; sodium channel, non-voltage-gated 1, delta subunit; sodium channel, nonvoltage-gated 1, delta; sodium channel, voltage-gated, type I, delta polypeptide", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); ischemia (Disease Ontology:DOID:326)", "pathway": " (hsa:6339); (R-HSA-2672351); (R-HSA-9730628)", "pathway_count": 3, "publication_count": 104, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;14645214;14726523;15010458;15044642;15084585;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16423824;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19520916;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22505667;22773952;22946059;2298749;23112050;2321095;23616951;2536303;26359375;26562072;26772908;27920218;27941075;28071645;28154142;28708422;28790369;31754387;31844290;32387766;33673381;35051231;35154160;36193739;7499195;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "CRISPR/Cas9 Mediated Knock Down of delta-ENaC Blunted the TNF-Induced Activation of ENaC in A549 Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Delta ENaC is a proton sensor, [RefSeq, PubMed]; Delta ENaC is regulated by Murr1, [RefSeq, PubMed]; Deltabetagamma-ENaC is inhibited by CFTR but activated by cyclic AMP., [RefSeq, PubMed]; ENaC channels including this isoform exhibit greater conductance., [UniProtKB, PubMed]; ENaCdelta activity is regulated by protons, and may contribute to the pH sensation and/or pH regulation in the human brain, [RefSeq, PubMed]; Potential alternative pore-forming subunit of the epithelial sodium channel (ENaC), capable of replacing the alpha/SCNN1A subunit, creating a more active channel with distinct properties (PubMed:16423824, PubMed:19520916, PubMed:22505667). ENaC functions in epithelial tissues, where it facilitates the electrodiffusion of sodium ions from the extracellular fluid through the apical membrane of cells, with water following osmotically, regulating sodium balance and fluid homeostasis (PubMed:16423824, PubMed:19520916, PubMed:7499195). This subunit could also function independently as a sodium channel or assemble into other tissue-specific heterotrimeric sodium channels (PubMed:7499195)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Proliferative regulation of alveolar epithelial type 2 progenitor cells by human Scnn1d gene. Publication Status: Online-Only, [RefSeq, PubMed]; Rare Variants in Genes Encoding Subunits of the Epithelial Na[+] Channel Are Associated With Blood Pressure and Kidney Function., [RefSeq, PubMed]; The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 26, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NNF7;A9Z1X6;B1PS44;B3KSD7;Q08AQ3;Q09HT0;Q5T7L3;Q8NA24", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015280 ligand-gated sodium channel activity;GO:0005272 sodium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0016020 membrane;GO:0016324 apical plasma membrane;GO:0034706 sodium channel complex", "go_biological_process": "GO:0008217 regulation of blood pressure;GO:1904117 cellular response to vasopressin;GO:0006883 intracellular sodium ion homeostasis;GO:0035725 sodium ion transmembrane transport;GO:1904045 cellular response to aldosterone", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P51172-3", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPF2-1", "uniprot_id": [ { "id": "CHSTB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPF2", "type": "external" } ], "mass": 41555.0, "length": 352, "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 11 isoform 2", "refseq_ac": [ { "id": "NP_001167453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167453", "type": "external" } ], "gene_names_uniprotkb": "CHST11", "gene_names_refseq": "C4ST-1; C4ST1; C4ST; CHST11; HSA269537; OCBMD", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 11; 2.8.2.5; C4S-1; C4ST-1; C4ST1; Chondroitin 4-O-sulfotransferase 1; Chondroitin 4-sulfotransferase 1", "protein_names_refseq": "C4S-1; IgH/CHST11 fusion; carbohydrate (chondroitin 4) sulfotransferase 11; carbohydrate sulfotransferase 11 isoform 2; chondroitin 4-O-sulfotransferase 1", "tax_id": 9606, "disease": "osteochondrodysplasia, brachydactyly, and overlapping malformed digits (MONDO:MONDO:0032574)", "pathway": " (hsa:50515); (R-HSA-2022870)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;10187838;10781596;10781601;10963998;11056388;11139592;11237011;11514575;11788602;12080076;12145278;12163485;12761225;12847091;12874280;12907687;15273723;15628971;17227754;18316376;21129727;21129728;21654843;22898188;23090970;24190977;25502872;25880248;26154972;27599773;27600516;27846572;27920218;28063628;28228285;28467828;28832583;28871256;28904123;29242379;29314611;29317506;29393594;29508533;29514872;29557506;29632046;29632711;31217245;31611695;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32707405;32983136;33691108;33912179;33936100;33968037;33981976;34078123;34357683;34932366;35051231;35154160;35251023;35289036;35580925;36181245;36546737;37076815;38565604;9883891", "class_list": "glycogene", "function": "Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues in desulfated dermatan sulfate. Preferentially sulfates in GlcA->GalNAc unit than in IdoA->GalNAc unit. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor., [UniProtKB]; Chondroitin-4-sulfate transferase-1 depletion inhibits formation of a proteoglycan-rich layer and alters immunotolerance of bone marrow mesenchymal stem cells on titanium oxide surfaces., [RefSeq, PubMed]; Effect of CHST11, a novel biomarker, on the biological functionalities of clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; High Expression of CHST11 Correlates with Poor Prognosis and Tumor Immune Infiltration of Pancreatic Cancer., [RefSeq, PubMed]; Human D4ST-1, C4ST-1, and S4ST-2 have differential roles in dermatan sulfate biosynthesis, [RefSeq, PubMed]; KIAA1429-mediated m6A modification of CHST11 promotes progression of diffuse large B-cell lymphoma by regulating Hippo-YAP pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The CHST11 gene is linked to lung cancer and pulmonary fibrosis., [RefSeq, PubMed]; The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 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": 5, "reported_glycation": 0, "reported_snv": 383, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K4F8;Q9NXY6;Q9NY36", "ec_number_list": [ { "id": "2.8.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.5", "type": "external" }, { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0001537 dermatan 4-sulfotransferase activity;GO:0047756 chondroitin 4-sulfotransferase activity;GO:0050659 N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0016051 carbohydrate biosynthetic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process;GO:0030166 proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9NPF2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P1X6-1", "uniprot_id": [ { "id": "CH082_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P1X6", "type": "external" } ], "mass": 23889.0, "length": 216, "protein_name": "UPF0598 protein C8orf82", "gene_name": "C8orf82", "organism": "Human", "refseq_name": "UPF0598 protein C8orf82", "refseq_ac": [ { "id": "NP_001001795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001795", "type": "external" } ], "gene_names_uniprotkb": "C8orf82", "gene_names_refseq": "C8orf82", "protein_names_uniprotkb": "UPF0598 protein C8orf82", "protein_names_refseq": "UPF0598 protein C8orf82", "tax_id": 9606, "disease": "", "pathway": " (hsa:414919)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;23481700;25576301;27846572;27920218;28649982;28904123;29557506;31844290;32938616;33141586;33912179;34357683;35051231;36010968", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q6GMR2;Q6P2Q7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q6P1X6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03701-1", "uniprot_id": [ { "id": "CEBPZ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03701", "type": "external" } ], "mass": 120974.0, "length": 1054, "protein_name": "CCAAT/enhancer-binding protein zeta", "gene_name": "CEBPZ", "organism": "Human", "refseq_name": "CCAAT/enhancer-binding protein zeta", "refseq_ac": [ { "id": "NP_005751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005751", "type": "external" } ], "gene_names_uniprotkb": "CEBPZ; CBF2", "gene_names_refseq": "CBF2; CBF; CEBPZ; HSP-CBF; NOC1", "protein_names_uniprotkb": "CCAAT/enhancer-binding protein zeta; CBF; CCAAT-binding factor; CCAAT-box-binding transcription factor", "protein_names_refseq": "CCAAT-binding transcription factor 2; CCAAT-box-binding transcription factor; CCAAT/enhancer binding protein (C/EBP), zeta; CCAAT/enhancer binding protein cebp family zeta; CCAAT/enhancer-binding protein zeta", "tax_id": 9606, "disease": "", "pathway": " (hsa:10153)", "pathway_count": 1, "publication_count": 98, "publication_id_list": "11237011;16565220;17081983;17924679;18452278;18669648;18691976;19007248;19608861;19651622;19690332;19691289;20068231;21406692;22424782;2247079;22544926;22645359;23186163;23481700;24275569;24366607;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26768311;26992070;27543614;27600516;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30484775;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33936100;33968037;34087483;34171305;34185709;34211107;34357683;34509645;34725712;34932366;35051231;35561310;35580925;36010968;36284347;40914422;8604343", "class_list": "", "function": "Mouse and Human CCAAT binding factors are discussed in this citation., [RefSeq, PubMed]; Stimulates transcription from the HSP70 promoter., [UniProtKB]; This gene belongs to the CBF/Mak21 family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. [provided by RefSeq, Nov 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": 20, "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": "Q8NE75", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016602 CCAAT-binding factor complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q03701-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PV6-2", "uniprot_id": [ { "id": "LENG8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PV6", "type": "external" } ], "mass": 88157.0, "length": 800, "protein_name": "Leukocyte receptor cluster member 8", "gene_name": "LENG8", "organism": "Human", "refseq_name": "leukocyte receptor cluster member 8 isoform 3", "refseq_ac": [ { "id": "NP_443157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443157", "type": "external" } ], "gene_names_uniprotkb": "LENG8; KIAA1932", "gene_names_refseq": "LENG8; pp13842", "protein_names_uniprotkb": "Leukocyte receptor cluster member 8", "protein_names_refseq": "leukocyte receptor cluster (LRC) member 8; leukocyte receptor cluster member 8 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:114823)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "16239144;18452278;20068231;21993680;23186163;23481700;24714562;25418920;25469497;25576301;25645385;25892735;26375851;26728094;26992070;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30216441;30237576;30315122;30410026;30484775;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34509645;35051231;35254053;35318648;35513511;35561310;35580925;36010968;36215666;36241641;36284347;37541260;37938771;39534244", "class_list": "", "function": "Genetic polymorphism is associated with pemphigus foliaceus, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "A0A087WTE7;B0VJY9;Q8IZ27;Q8NCX6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0032991 protein-containing complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q96PV6-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSP4-1", "uniprot_id": [ { "id": "CENPM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSP4", "type": "external" } ], "mass": 19737.0, "length": 180, "protein_name": "Centromere protein M", "gene_name": "CENPM", "organism": "Human", "refseq_name": "centromere protein M isoform g", "refseq_ac": [ { "id": "NP_001291302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291302", "type": "external" } ], "gene_names_uniprotkb": "CENPM; C22orf18; ICEN39; PANE1", "gene_names_refseq": "C22orf18; CENP-M; CENPM; PANE1", "protein_names_uniprotkb": "Centromere protein M; CENP-M; Interphase centromere complex protein 39; Proliferation-associated nuclear element protein 1", "protein_names_refseq": "centromere protein M isoform g; interphase centromere complex protein 39; proliferation-associated nuclear element protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79019); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-606279); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 143, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15183305;15339662;15369671;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16391015;16439214;16541025;16622419;16622420;16682347;16716197;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;17199038;17339379;1737036;18001770;18097444;18477386;18716626;18923426;19350017;19398759;19410544;19410545;19696148;19815554;19965387;20030946;20080577;20101212;20566683;20591975;21111234;21148482;21397845;21576392;21768289;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23222643;23481700;23801653;24714562;24715725;24914801;25006165;25418920;25576301;25740311;25789526;25892735;26375851;26728094;26992070;27600516;27846572;27920218;28063628;28228285;28832583;28855257;28904123;29242379;29331515;29351928;29393594;29493099;29508533;29632046;29769354;30315122;30524438;30779550;31217245;31409757;31530632;31844290;32157095;32161166;32387766;32897882;32938616;33141586;33592498;33691108;33717175;33912179;33936100;33968037;34211107;34260926;34405274;34509645;35051231;35462155;36241641;36581221;36635779;38200449;9649308;9649503;9892021", "class_list": "", "function": "An alternative transcript of the proliferation-associated nuclear element 1 (PANE1) gene encodes a novel (HLA)-A(*)0301-restricted mHAg that is selectively expressed in B-lymphoid cells, [RefSeq, PubMed]; CENP-M is crucially required for the assembly and stability of a tetramer also comprising CENP-I, CENP-H, and CENP-K, the HIKM complex, which we extensively characterize through a combination of structural, biochemical, and cell biological approaches. Publication Status: Online-Only, [RefSeq, PubMed]; CENPM upregulation by E5 oncoprotein of human papillomavirus promotes radiosensitivity in head and neck squamous cell carcinoma., [RefSeq, PubMed]; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Expression of the human PANE1 gene was detected preferentially in immune cells, [RefSeq, PubMed]; The protein encoded by this gene is an inner protein of the kinetochore, the multi-protein complex that binds spindle microtubules to regulate chromosome segregation during cell division. It belongs to the constitutive centromere-associated network protein group, whose members interact with outer kinetochore proteins and help to maintain centromere identity at each cell division cycle. The protein is structurally related to GTPases but cannot bind guanosine triphosphate. A point mutation that affects interaction with another constitutive centromere-associated network protein, CENP-I, impairs kinetochore assembly and chromosome alignment, suggesting that it is required for kinetochore formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]; Upregulation of CENPM is associated with poor clinical outcome and suppression of immune profile in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Upregulation of CENPM promotes breast carcinogenesis by altering immune infiltration. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": "A7LM22;B1AHQ9;Q6I9W3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000776 kinetochore;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0007059 chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q9NSP4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04118-1", "uniprot_id": [ { "id": "COL_HUMAN", "url": "https://www.uniprot.org/uniprot/P04118", "type": "external" } ], "mass": 11954.0, "length": 112, "protein_name": "Colipase", "gene_name": "CLPS", "organism": "Human", "refseq_name": "colipase isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_001823", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001823", "type": "external" } ], "gene_names_uniprotkb": "CLPS", "gene_names_refseq": "CLPS", "protein_names_uniprotkb": "Colipase", "protein_names_refseq": "colipase isoform 1 preproprotein; colipase, pancreatic; pancreatic colipase preproprotein", "tax_id": 9606, "disease": "biliary tract benign neoplasm (Disease Ontology:DOID:0050625); Zollinger-Ellison syndrome (Disease Ontology:DOID:0050782); stroke (Disease Ontology:DOID:0051061); COVID-19 (Disease Ontology:DOID:0080600); pre-eclampsia (Disease Ontology:DOID:10591); esophageal varix (Disease Ontology:DOID:112); Hantavirus hemorrhagic fever with renal syndrome (Disease Ontology:DOID:11266); heart disease (Disease Ontology:DOID:114); familial hyperlipidemia (Disease Ontology:DOID:1168); protein-energy malnutrition (Disease Ontology:DOID:11801); nephrotic syndrome (Disease Ontology:DOID:1184); alcoholic hepatitis (Disease Ontology:DOID:12351); leukemia (Disease Ontology:DOID:1240); twin-to-twin transfusion syndrome (Disease Ontology:DOID:13576); cholestasis (Disease Ontology:DOID:13580); obstructive jaundice (Disease Ontology:DOID:13603); root caries (Disease Ontology:DOID:14089); Reye syndrome (Disease Ontology:DOID:14525); pancreatic cancer (Disease Ontology:DOID:1793); hyperthyroxinemia (Disease Ontology:DOID:2855); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); lung non-small cell carcinoma (Disease Ontology:DOID:3908); cholangiocarcinoma (Disease Ontology:DOID:4947); liver cirrhosis (Disease Ontology:DOID:5082); pneumonia (Disease Ontology:DOID:552); proteinuria (Disease Ontology:DOID:576); congestive heart failure (Disease Ontology:DOID:6000); blood protein disease (Disease Ontology:DOID:620); gastric cardia adenocarcinoma (Disease Ontology:DOID:6271); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); psoriasis (Disease Ontology:DOID:8893); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:1208); (R-HSA-192456); (R-HSA-975634)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10052934;10358049;10769148;11040182;11060341;11181758;11237011;11274389;1279089;1379598;15358783;1542003;15583000;16189801;16200213;1643046;16939223;17401110;17525477;17644776;17715423;18087047;18295589;18460466;18507396;1856611;18726866;19014918;19139408;20054203;21106934;21851338;2318975;23204298;2337598;23918603;24106281;26494624;27893789;2793848;3714052;3942763;4345202;5057882;5675424;6420172;6691986;6961410;7350912;7350913;7683668;8017323;8384721;8479519;8728311;9888420;9920938;9925661", "class_list": "", "function": "CLPS genetic variability associates with insulin secretory function in non-diabetic humans and may represent a novel candidate gene for development of type 2 diabetes GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Colipase is a cofactor of pancreatic lipase. It allows the lipase to anchor itself to the lipid-water interface. Without colipase the enzyme is washed off by bile salts, which have an inhibitory effect on the lipase., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Enterostatin has a biological activity as a satiety signal., [UniProtKB, UniProtKB, UniProtKB]; Found no evidence for an association of pancreatic colipase(CLPS) single nucleotide polymorphisms rs2766597, rs41270082, rs3748050, and rs3748051 with obesity or percentage of dietary fat intake GeneRIF: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Humans with the Arg92Cys substitution will secrete less functional colipase, [RefSeq, PubMed]; Low CLPS expression is associated with pancreatic cancer., [RefSeq, PubMed]; Our findings demonstrate that the Arg92Cys polymorphism decreases the function of Cys92 colipase. This change may contribute to the development of type 2 diabetes., [RefSeq, PubMed]; The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 37, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T9G7;Q5U809", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0035473 lipase binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0006629 lipid metabolic process;GO:0016042 lipid catabolic process;GO:0007586 digestion", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "P04118-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08218-1", "uniprot_id": [ { "id": "CEL2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P08218", "type": "external" } ], "mass": 28810.0, "length": 269, "protein_name": "Chymotrypsin-like elastase family member 2B", "gene_name": "CELA2B", "organism": "Human", "refseq_name": "chymotrypsin-like elastase family member 2B preproprotein", "refseq_ac": [ { "id": "NP_056933", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056933", "type": "external" } ], "gene_names_uniprotkb": "CELA2B; ELA2B", "gene_names_refseq": "CELA2B; ELA2B", "protein_names_uniprotkb": "Chymotrypsin-like elastase family member 2B; 3.4.21.71; Elastase-2B", "protein_names_refseq": "RP11-265F14.2; chymotrypsin like elastase family member 2B; chymotrypsin-like elastase family member 2B preproprotein; elastase 2B; pancreatic elastase IIB (ELA2B)", "tax_id": 9606, "disease": "", "pathway": " (hsa:51032)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;19773279;33981976;35051231;36241641;3646943", "class_list": "", "function": "Acts upon elastin., [UniProtKB]; Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2B is secreted from the pancreas as a zymogen. In other species, elastase 2B has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q14D16;Q6ISM5;Q96QV5", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006508 proteolysis;GO:1901143 insulin catabolic process;GO:0090330 regulation of platelet aggregation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P08218-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01130-1", "uniprot_id": [ { "id": "SRSF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01130", "type": "external" } ], "mass": 25476.0, "length": 221, "protein_name": "Serine/arginine-rich splicing factor 2", "gene_name": "SRSF2", "organism": "Human", "refseq_name": "serine/arginine-rich splicing factor 2", "refseq_ac": [ { "id": "NP_001182356", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182356", "type": "external" } ], "gene_names_uniprotkb": "SRSF2; SFRS2", "gene_names_refseq": "PR264; SC-35; SC35; SFRS2A; SFRS2; SRSF2; SRp30b", "protein_names_uniprotkb": "Serine/arginine-rich splicing factor 2; Protein PR264; SC-35; Splicing component, 35 kDa; Splicing factor SC35; Splicing factor, arginine/serine-rich 2", "protein_names_refseq": "SR splicing factor 2; serine/arginine-rich splicing factor 2; splicing component, 35 kDa; splicing factor SC35; splicing factor, arginine/serine-rich 2", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); pulmonary neuroendocrine tumor (Disease Ontology:DOID:5410); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:6427); (R-HSA-159236); (R-HSA-72163); (R-HSA-72165); (R-HSA-72187); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 8, "publication_count": 263, "publication_id_list": "10207048;10228171;10323864;10489353;10668806;10669729;10757789;10882114;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11333026;11579093;11607023;11739738;11747608;11756420;11979277;11980906;11991638;12093754;12176931;12411573;12414731;12477934;12871933;1373910;14519844;14625303;1465383;14684736;14713954;14749727;14762106;15037765;15084397;15302935;15565158;1557353;1577277;15998806;16314397;16314458;16809785;16964243;17000901;17081983;17095540;17128255;17190602;17322306;17332742;17606899;17924679;17940139;17984224;18160138;18212344;18288197;18322460;18364396;18411249;18423201;18452278;18593880;18669648;18767875;18957205;19007248;19052544;19103666;19165350;19217410;19413330;19415658;19536130;19592491;19651622;19664994;19664995;19836239;20068231;20129943;20166139;20230923;20423332;20573985;20695905;20844015;20980672;21157427;21295486;21296756;21406692;21536652;2176635;21911577;21947206;22110043;22207203;22223895;22299025;22365833;22813749;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23345524;23826332;23874216;24029068;24037441;24076191;24149845;24196718;24244187;24304693;24316715;24369158;24407421;24448447;24714562;24737827;24914973;24981863;2524422;25301780;25301781;25305095;25469497;25555158;2558966;25645385;25662211;25836925;26092250;26154972;26375851;26385511;26420826;26728094;26969736;27108190;27377154;27459055;27510544;27600516;27683217;27846572;27869121;27920218;28062851;28063628;28076346;28096519;28228285;28502770;28781166;28832583;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632046;2963332;29786170;29902443;30139799;30257008;30315122;30315277;30599162;30705154;30728453;30765414;30833945;30975767;31409651;31844290;31848261;31998317;32179686;32265295;32329775;32387766;32488085;32494006;32502341;32816001;32897882;32938616;32983136;33177556;33214551;33243851;33298915;33446560;33633747;33912179;33968037;34019948;34087483;34171305;34301950;34509645;34561969;34822310;35051231;35177536;35215846;35385551;35526384;35561310;3757028;37867192;37938771;38065062;38665916;38678322;38713535;38795036;39652302;7543047;8139654;8261509;8302870;8352591;8361546;8566756;8608946;8835860;9016565;9237760;9242493;9409616;9447963;9512519;9524131;9539711;9618489;9659921;9660949;9671485;9701291;9731529", "class_list": "", "function": "A mitochondrial surveillance mechanism activated by SRSF2 mutations in hematologic malignancies. Publication Status: Online-Only, [RefSeq, PubMed]; Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Perturb mRNA Splicing through Aberrant Interactions with SRSF2., [RefSeq, PubMed]; Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre-mRNA. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Binds to purine-rich RNA sequences, either 5'-AGSAGAGTA-3' (S=C or G) or 5'-GTTCGAGTA-3'. Can bind to beta-globin mRNA and commit it to the splicing pathway. The phosphorylated form (by SRPK2) is required for cellular apoptosis in response to cisplatin treatment., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; SRSF2 is required for mRNA splicing during spermatogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; SRSF2 plays an unexpected role as reader of m[5]C on mRNA, linking epitranscriptomics to cancer., [RefSeq, PubMed]; The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010]., [RefSeq]; [SRSF2 promotes glioblastoma cell proliferation by inducing alternative splicing of FSP1 and inhibiting ferroptosis]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KWD5;B4DN89;H0YG49", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 26.6, "record_id": "Q01130-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MH7-1", "uniprot_id": [ { "id": "CE034_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MH7", "type": "external" } ], "mass": 72884.0, "length": 638, "protein_name": "Uncharacterized protein C5orf34", "gene_name": "C5orf34", "organism": "Human", "refseq_name": "uncharacterized protein C5orf34", "refseq_ac": [ { "id": "NP_940968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940968", "type": "external" } ], "gene_names_uniprotkb": "C5orf34", "gene_names_refseq": "C5orf34", "protein_names_uniprotkb": "Uncharacterized protein C5orf34", "protein_names_refseq": "uncharacterized protein C5orf34", "tax_id": 9606, "disease": "", "pathway": " (hsa:375444)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;16959974;23481700;25645385;25892735;27920218;28218747;28228285;28649982;28832583;28834231;28855257;29242379;29769354;30315122;30379171;30771479;30833945;31222486;31530632;36215666;38078888;38951221", "class_list": "", "function": "Comprehensive pan-cancer analysis reveals that C5orf34 regulates the proliferation and mortality of lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Integration of genomics and transcriptomics highlights the crucial role of chromosome 5 open reading frame 34 in various human malignancies., [RefSeq, PubMed]; Study results firstly revealed that C5orf34 might play a facilitating role in lung adenocarcinoma (LAD) development and progression by regulating MAPK signaling pathway. Furthermore, data implied that C5orf34 may be a potential predictor and treatment target for LAD., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q96MH7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UL16-1", "uniprot_id": [ { "id": "CFA45_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UL16", "type": "external" } ], "mass": 65730.0, "length": 551, "protein_name": "Cilia- and flagella-associated protein 45", "gene_name": "CFAP45", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 45", "refseq_ac": [ { "id": "NP_036469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036469", "type": "external" } ], "gene_names_uniprotkb": "CFAP45; CCDC19; NESG1", "gene_names_refseq": "CCDC19; CFAP45; HTX11; NESG1", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 45; Coiled-coil domain-containing protein 19; Nasopharyngeal epithelium-specific protein 1", "protein_names_refseq": "cilia- and flagella-associated protein 45; coiled-coil domain containing 19; coiled-coil domain-containing protein 19, mitochondrial; nasopharyngeal epithelium specific protein 1 (NESG1); nasopharyngeal epithelium-specific protein 1; protein CFAP45, mitochondrial", "tax_id": 9606, "disease": "visceral heterotaxy 11 (Disease Ontology:DOID:0051025)", "pathway": " (hsa:25790)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10524255;11237011;17924679;20715168;22140479;22997098;29242379;29557506;30379171;30429286;31154438;31429579;31998317;32350084;33139725;33788346;35051231;36010968;36191189;37236356", "class_list": "", "function": "CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. Publication Status: Online-Only, [RefSeq, PubMed]; Decreased NESG1 expression is an unfavorable prognostic factor for nasopharyngeal carcinoma., [RefSeq, PubMed]; Decreased expression of NESG1 is associated with nasopharyngeal carcinoma., [RefSeq, PubMed]; Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). It is an AMP-binding protein that may facilitate dynein ATPase-dependent ciliary and flagellar beating via adenine nucleotide homeostasis. May function as a donor of AMP to AK8 and hence promote ADP production (PubMed:33139725)., [UniProtKB, PubMed, UniProtKB, PubMed]; The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice., [RefSeq, PubMed]; Used proteomics technology to globally examine NESG1-controlled proteins in nasopharyngeal carcinoma(NPC) cells. Interestingly, a-enolase (ENO1), an overexpressed gene in NPC, was confirmed as a NESG1-regulated protein in NPC cells., [RefSeq, PubMed]; VPS33B interacts with NESG1 to suppress cell growth and cisplatin chemoresistance in ovarian cancer. Erratum:[Cancer Sci. 2021 Jul;112(7):2931. doi: 10.1111/cas.15030. PMID: 34214226], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JH28;Q05BA3;Q5VU18", "ec_number_list": [], "go_molecular_function": "GO:0016208 AMP binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005634 nucleus;GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0061966 establishment of left/right asymmetry", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9UL16-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUW7-1", "uniprot_id": [ { "id": "BBLN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUW7", "type": "external" } ], "mass": 9054.0, "length": 83, "protein_name": "Bublin coiled-coil protein", "gene_name": "BBLN", "organism": "Human", "refseq_name": "bublin coiled-coil protein", "refseq_ac": [ { "id": "NP_077017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077017", "type": "external" } ], "gene_names_uniprotkb": "BBLN; C9orf16; EST00098", "gene_names_refseq": "BBLN; C9orf16; EST00098; Hero9", "protein_names_uniprotkb": "Bublin coiled-coil protein; UPF0184 protein C9orf16", "protein_names_refseq": "UPF0184 protein C9orf16; bublin coiled-coil protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79095)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "10369878;16964243;18669648;19413330;19664995;19690332;20068231;21406692;25418920;25576301;26154972;26811146;26929215;26992070;27846572;27920218;28063628;28832583;28834231;29242379;29393594;29485866;29493099;29557506;29632046;29786170;30429286;31154438;31844290;31848261;32387766;33857431;33981976;35580925;36284347;36307773", "class_list": "", "function": "C9orf16 represents the aberrant genetic programs and drives the progression of PDAC. Publication Status: Online-Only, [RefSeq, PubMed]; Essential for intermediate filament organization in intestinal cells, interacts with intermediate filament and regulates intestinal lumen morphology., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5SYV8;Q9Y3F7", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity", "go_cellular_component": "GO:0030054 cell junction;GO:0005882 intermediate filament;GO:0120219 subapical part of cell;GO:0070161 anchoring junction", "go_biological_process": "GO:0045110 intermediate filament bundle assembly", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9BUW7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95684-1", "uniprot_id": [ { "id": "CEP43_HUMAN", "url": "https://www.uniprot.org/uniprot/O95684", "type": "external" } ], "mass": 43065.0, "length": 399, "protein_name": "Centrosomal protein 43", "gene_name": "CEP43", "organism": "Human", "refseq_name": "centrosomal protein 43 isoform a", "refseq_ac": [ { "id": "NP_008976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008976", "type": "external" } ], "gene_names_uniprotkb": "CEP43; FGFR1OP; FOP", "gene_names_refseq": "CEP43; FGFR1OP; FOP", "protein_names_uniprotkb": "Centrosomal protein 43; FGFR1 oncogene partner", "protein_names_refseq": "FGFR1 oncogene partner; centrosomal protein 43 isoform a; fibroblast growth factor receptor 1 oncogene partner", "tax_id": 9606, "disease": "", "pathway": " (hsa:11116); (R-HSA-1839117); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-5655302); (R-HSA-8854518)", "pathway_count": 10, "publication_count": 172, "publication_id_list": "10480903;10579907;10652257;10688839;10887137;10918587;10935490;11076968;11157491;11237011;11429702;11689702;11739186;11956313;12124177;12207013;12221128;12364337;12393597;12852856;13678582;14534538;14580337;14654843;14660670;15034873;15050920;15144186;15448205;15498487;15609342;15705883;15800673;16091734;16314388;16357211;16462731;16690081;16844695;16890155;16946300;17081983;17287340;17322306;17505008;17533378;17574030;17646400;17698633;17719545;18037885;18205209;18337450;18373495;18378770;18381441;18412956;18477460;18521620;18552176;18566290;18615013;18669648;18694559;18757403;18801063;19004860;19007248;19081074;19103595;19147536;19369959;19381019;19413330;19651622;19690332;19749790;19809159;19874848;19940019;19946327;20068231;20094046;20179196;20226962;20230748;20308558;20399632;20558667;20709759;21160078;21273506;21330321;21347367;21406692;21422230;21548880;21565611;21620453;21666749;21711248;21725307;21792235;22094468;22179047;22365832;22433857;22544926;22641346;22653444;23141531;23141541;23186163;23253480;23301498;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24275569;24366607;24397554;24469809;24714562;24982133;25047611;25313408;25532896;25576301;26154972;26728094;27920218;28228285;28428259;28625565;28659385;28832583;28904123;29242379;29557506;29786170;30315122;31530632;31844290;32357974;32387766;32938616;32983136;33141586;33298915;33402344;33592498;33717175;33968037;34087483;34509645;35051231;36581221;7769006;7790358;8838651;9425908;9576949;9716603;9857065;9949182", "class_list": "", "function": "CAP350 interacts directly with FOP (FGFR1 oncogene partner) to form a centrosomal complex required for microtubule anchoring., [RefSeq, PubMed]; Required for anchoring microtubules to the centrosomes (PubMed:16314388, PubMed:28659385). Required for ciliation (PubMed:28625565, PubMed:28659385)., [UniProtKB, PubMed, PubMed, PubMed]; Required for anchoring microtubules to the centrosomes. Required for ciliation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K1D1;B2R705;Q49AI0;Q5R3F6;Q96EW1", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042803 protein homodimerization activity;GO:0030292 protein tyrosine kinase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0005814 centriole", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0030307 positive regulation of cell growth;GO:0030335 positive regulation of cell migration;GO:0006469 negative regulation of protein kinase activity;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 17.5, "record_id": "O95684-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43395-1", "uniprot_id": [ { "id": "PRPF3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43395", "type": "external" } ], "mass": 77529.0, "length": 683, "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp3", "gene_name": "PRPF3", "organism": "Human", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp3 isoform 1", "refseq_ac": [ { "id": "NP_004689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004689", "type": "external" } ], "gene_names_uniprotkb": "PRPF3; HPRP3; PRP3", "gene_names_refseq": "HPRP3P; HPRP3; PRP3; PRPF3; Prp3p; RP18; SNRNP90", "protein_names_uniprotkb": "U4/U6 small nuclear ribonucleoprotein Prp3; Pre-mRNA-splicing factor 3; U4/U6 snRNP 90 kDa protein; hPrp3", "protein_names_refseq": "PRP3 pre-mRNA processing factor 3 homolog; U4/U6 small nuclear ribonucleoprotein Prp3 isoform 1; U4/U6 small nuclear ribonucleoprotein Prp3; U4/U6 snRNP 90 kDa protein; U4/U6-associated RNA splicing factor; pre-mRNA-splicing factor 3", "tax_id": 9606, "disease": "retinitis pigmentosa 18 (Disease Ontology:DOID:0110356); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:9129); (R-HSA-72163)", "pathway_count": 2, "publication_count": 185, "publication_id_list": "10.1101/2023.09.13.557529;10882114;11014198;11101529;11233976;11773002;11991638;12176931;12411573;12414731;12477934;12714658;14625303;14713954;15314151;16314458;16565220;16723661;16809785;17081983;17095540;17287340;17322306;17332742;17525332;17606899;17932117;18318008;18322460;18452278;18593880;18669648;19007248;19103666;19165350;19413330;19536130;19651622;19690332;20068231;20423332;20595234;20980672;21406692;21536652;2176635;22110043;22365833;22424782;22544926;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24196718;24275569;24304693;24448447;24715725;24737827;24914973;25555158;2558966;25645385;26030138;26385511;26420826;26912367;26969736;26992070;27377154;27459055;27683217;27920218;28062851;28076346;28218747;28228285;28502770;28510447;28781166;28832583;28834231;28904123;29242379;29301961;29331515;29351928;29360106;29361316;29437277;29493099;29508533;29557506;2963332;29786170;30192525;30315122;30315277;30379171;30429286;30484775;30524438;30620550;30705154;30728453;30765414;30833945;30975767;31154438;31409651;31530632;31611695;31844290;31848261;31998317;32157095;32161166;32179686;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32522876;32574038;32897882;32938616;32983136;33141586;33214551;33243851;33298915;33446560;33465208;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34185709;34301950;34405274;34509645;34822310;35051231;35132862;35251023;35254053;35289036;35385551;35494241;35561310;35580925;36010968;36215666;36241641;36477533;37217939;3757028;37938771;38665916;39531497;40596516;8566756;8608946;9016565;9242493;9328476;9404889;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)., [UniProtKB, PubMed, PubMed, PubMed]; The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B4DSY9;O43446;Q5VT54", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex;GO:0015030 Cajal body", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0006397 mRNA processing;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0008380 RNA splicing;GO:0000387 spliceosomal snRNP assembly", "synthesized_glycan_count": 0, "hit_score": 19.8, "record_id": "O43395-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H875-1", "uniprot_id": [ { "id": "PKRI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H875", "type": "external" } ], "mass": 20997.0, "length": 184, "protein_name": "PRKR-interacting protein 1", "gene_name": "PRKRIP1", "organism": "Human", "refseq_name": "PRKR-interacting protein 1", "refseq_ac": [ { "id": "NP_078929", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078929", "type": "external" } ], "gene_names_uniprotkb": "PRKRIP1", "gene_names_refseq": "C114; KRBOX3; PRKRIP1", "protein_names_uniprotkb": "PRKR-interacting protein 1", "protein_names_refseq": "KRAB box domain containing 3; PRKR interacting protein 1 (IL11 inducible); PRKR-interacting protein 1; likely ortholog of mouse C114 dsRNA-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79706); (R-HSA-72163)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10882114;11014198;11101529;11233976;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17081983;17095540;17332742;17606899;18322460;18452278;18593880;19103666;19165350;19536130;20423332;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24448447;24737827;24914973;25555158;2558966;26385511;26420826;26969736;27377154;27459055;27683217;27920218;28062851;28076346;28502770;28781166;28832583;28834231;29242379;29301961;29360106;29361316;29393594;2963332;30315277;30705154;30728453;30765414;30975767;31409651;31844290;31848261;32157095;32179686;32329775;32494006;33243851;33298915;33446560;34301950;34561969;34822310;35385551;36192001;36241641;36284347;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "PRKRIP1, A Splicing Complex Factor, Is a Marker of Poor Prognosis in Colorectal Cancer., [RefSeq, PubMed]; Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:30705154). Binds double-stranded RNA. Inhibits EIF2AK2 kinase activity (By similarity)., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DGM2;Q8NDM6;Q96CF8", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0004860 protein kinase inhibitor activity;GO:0003725 double-stranded RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome", "go_biological_process": "GO:0003014 renal system process;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9H875-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96T49-1", "uniprot_id": [ { "id": "PP16B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96T49", "type": "external" } ], "mass": 63551.0, "length": 567, "protein_name": "Protein phosphatase 1 regulatory inhibitor subunit 16B", "gene_name": "PPP1R16B", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory inhibitor subunit 16B isoform 2", "refseq_ac": [ { "id": "NP_001166206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166206", "type": "external" } ], "gene_names_uniprotkb": "PPP1R16B; ANKRD4; KIAA0823", "gene_names_refseq": "ANKRD4; PPP1R16B; TIMAP", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory inhibitor subunit 16B; Ankyrin repeat domain-containing protein 4; CAAX box protein TIMAP; TGF-beta-inhibited membrane-associated protein; hTIMAP", "protein_names_refseq": "CAAX box protein TIMAP; TGF-beta-inhibited membrane-associated protein; ankyrin repeat domain protein 4; ankyrin repeat domain-containing protein 4; hTIMAP; protein phosphatase 1 regulatory inhibitor subunit 16B isoform 2; protein phosphatase 1, regulatory (inhibitor) subunit 16B", "tax_id": 9606, "disease": "", "pathway": " (hsa:26051)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "12055102;15491607;16263087;18586956;21466834;21907835;22424782;23186163;23305203;23481700;24715725;25007873;25418920;25576301;25892735;26154972;26497934;26992070;27846572;27862975;27920218;28228285;28832583;28834231;28860189;28904123;29242379;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30429286;30524438;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32502341;32983136;33141586;33298915;33639401;33691108;33717175;33912179;33968037;34357683;34509645;34932366;35051231;35561310;35580925;37938771;38139189", "class_list": "", "function": "Data suggest that double-thiophosphorylation of TIMAP has minor effect on its binding ability to PP1c, but considerably attenuates its inhibitory effect on the activity of PP1c., [RefSeq, PubMed]; Involvement of TIMAP in PKA-mediated moesin dephosphorylation and the importance of this dephosphorylation in TIMAP-mediated endothelial cell barrier protection, [RefSeq, PubMed]; Regulator of protein phosphatase 1 (PP1) that acts as a positive regulator of pulmonary endothelial cell (EC) barrier function (PubMed:18586956). Involved in the regulation of the PI3K/AKT signaling pathway, angiogenesis and endothelial cell proliferation (PubMed:25007873). Regulates angiogenesis and endothelial cell proliferation through the control of ECE1 dephosphorylation, trafficking and activity (By similarity). Protects the endothelial barrier from lipopolysaccharide (LPS)-induced vascular leakage (By similarity). Involved in the regulation of endothelial cell filopodia extension (By similarity). May be a downstream target for TGF-beta1 signaling cascade in endothelial cells (PubMed:16263087, PubMed:18586956). Involved in PKA-mediated moesin dephosphorylation which is important in EC barrier protection against thrombin stimulation (PubMed:18586956). Promotes the interaction of PPP1CA with RPSA/LAMR1 and in turn facilitates the dephosphorylation of RPSA/LAMR1 (PubMed:16263087). Involved in the dephosphorylation of EEF1A1 (PubMed:26497934)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; TIMAP, a Regulatory Subunit of Protein Phosphatase 1, Inhibits In Vitro Neuronal Differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; TIMAP, a novel CAAX box protein regulated by TGF-beta1 and expressed in endothelial cells., [RefSeq, PubMed]; The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]., [RefSeq]; The role of LR-TIMAP/PP1c complex in the occurrence and development of no-reflow., [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": 1, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2RRR6;E9PFS8;O94912;Q5W9G4;Q9NQG4", "ec_number_list": [], "go_molecular_function": "GO:0017020 myosin phosphatase regulator activity;GO:0004857 enzyme inhibitor activity;GO:0019888 protein phosphatase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016607 nuclear speck;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0051896 regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0061028 establishment of endothelial barrier;GO:0001938 positive regulation of endothelial cell proliferation;GO:0051489 regulation of filopodium assembly;GO:1903670 regulation of sprouting angiogenesis", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q96T49-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21453-1", "uniprot_id": [ { "id": "S1PR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P21453", "type": "external" } ], "mass": 42811.0, "length": 382, "protein_name": "Sphingosine 1-phosphate receptor 1", "gene_name": "S1PR1", "organism": "Human", "refseq_name": "sphingosine 1-phosphate receptor 1", "refseq_ac": [ { "id": "NP_001307659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307659", "type": "external" } ], "gene_names_uniprotkb": "S1PR1; CHEDG1; EDG1", "gene_names_refseq": "CD363; CHEDG1; D1S3362; ECGF1; EDG-1; EDG1; S1P1; S1PR1", "protein_names_uniprotkb": "Sphingosine 1-phosphate receptor 1; Endothelial differentiation G protein-coupled receptor 1; S1P receptor 1; S1P receptor Edg-1; S1P1; Sphingosine 1-phosphate receptor Edg-1", "protein_names_refseq": "S1P receptor Edg-1; endothelial differentiation G-protein coupled receptor 1; endothelial differentiation, sphingolipid G-protein-coupled receptor, 1; sphingosine 1-phosphate receptor 1; sphingosine 1-phosphate receptor EDG1; sphingosine 1-phosphate receptor Edg-1", "tax_id": 9606, "disease": "type 1 diabetes mellitus 7 (Disease Ontology:DOID:0110746); maturity-onset diabetes of the young type 6 (Disease Ontology:DOID:0111104); glucose intolerance (Disease Ontology:DOID:10603); hypertension (Disease Ontology:DOID:10763); hyperglycemia (Disease Ontology:DOID:4195); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1901); (R-HSA-419408); (R-HSA-6785807); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 160, "publication_id_list": "10.1038/emboj.2013.79;10023775;10087012;10219247;10369418;10383399;10488065;10488122;10510379;10586089;10617617;10727522;10753843;10799507;10867011;10982820;11058569;11084045;11104795;11120780;11230698;11237011;11278437;11278729;11356008;11404481;11463377;11583630;11604399;11960372;12223527;12242343;12427546;12600988;12730698;12832402;14634100;14712222;15116091;15261459;15584925;15750791;15805299;15869882;15950906;16007214;16048438;16107692;16115318;16205632;16236134;16362076;16397018;16451196;16510571;16522641;16540365;16606674;17427945;17458857;17572495;17662961;18243101;18353781;18447642;18644974;19124156;19185846;19286607;19366702;19397496;20061941;20223979;20493732;21102457;21252155;2160972;21689689;21730069;21937440;21994466;22046235;22205702;22344443;22383755;22401777;22552008;22693070;22814904;22851691;23086340;23124025;23172665;23388400;23455323;23555662;23584533;23641311;23967200;24097101;24190977;24272870;24584101;24743777;24900670;25234944;25588843;25801024;26002965;26990079;28425720;28832583;29185452;29242379;29314611;29557506;29735753;29945920;30201761;31048504;31154438;32350084;32387766;32502341;34509645;35051231;36010968;37039481;37074911;37781737;37828220;37858140;38194271;7510216;7512451;7529288;7795521;7796300;7898939;7907877;8085155;8602263;8621622;8626678;8663118;8668165;8797861;8816495;8878560;9013879;9070858;9409733;9488656;9525886;9651359;9723655;9736340;9804623;9822675;9874564", "class_list": "", "function": "CircPTPN22 modulates T-cell activation by sponging miR-4689 to regulate S1PR1 expression in patients with systemic lupus erythematosus. Erratum:[Arthritis Res Ther. 2024 Jan 31;26(1):39. doi: 10.1186/s13075-024-03270-4. PMID: 38297345] Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor for the bioactive lysosphingolipid sphingosine 1-phosphate (S1P) that seems to be coupled to the G(i) subclass of heteromeric G proteins. Signaling leads to the activation of RAC1, SRC, PTK2/FAK1 and MAP kinases. Plays an important role in cell migration, probably via its role in the reorganization of the actin cytoskeleton and the formation of lamellipodia in response to stimuli that increase the activity of the sphingosine kinase SPHK1. Required for normal chemotaxis toward sphingosine 1-phosphate. Required for normal embryonic heart development and normal cardiac morphogenesis. Plays an important role in the regulation of sprouting angiogenesis and vascular maturation. Inhibits sprouting angiogenesis to prevent excessive sprouting during blood vessel development. Required for normal egress of mature T-cells from the thymus into the blood stream and into peripheral lymphoid organs. Plays a role in the migration of osteoclast precursor cells, the regulation of bone mineralization and bone homeostasis (By similarity). Plays a role in responses to oxidized 1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphocholine by pulmonary endothelial cells and in the protection against ventilator-induced lung injury., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Glycolytic enzyme PFKFB3 regulates sphingosine 1-phosphate receptor 1 in proangiogenic glomerular endothelial cells under diabetic condition., [RefSeq, PubMed]; S1PR1 inhibition induces proapoptotic signaling in T cells and limits humoral responses within lymph nodes. Publication Status: Online-Only, [RefSeq, PubMed]; S1PR1 regulates ovarian cancer cell senescence through the PDK1-LATS1/2-YAP pathway., [RefSeq, PubMed]; The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and high specificity, and suggested to be involved in the processes that regulate the differentiation of endothelial cells. Activation of this receptor induces cell-cell adhesion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 8, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "D3DT66;Q9BYY4;Q9NYN8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0001664 G protein-coupled receptor binding;GO:0038036 sphingosine-1-phosphate receptor activity;GO:0046625 sphingolipid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0045124 regulation of bone resorption;GO:0003376 sphingosine-1-phosphate receptor signaling pathway;GO:0001525 angiogenesis;GO:0006935 chemotaxis;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "P21453-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13291-1", "uniprot_id": [ { "id": "SLAF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13291", "type": "external" } ], "mass": 37231.0, "length": 335, "protein_name": "Signaling lymphocytic activation molecule", "gene_name": "SLAMF1", "organism": "Human", "refseq_name": "signaling lymphocytic activation molecule isoform a precursor", "refseq_ac": [ { "id": "NP_001317683", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317683", "type": "external" } ], "gene_names_uniprotkb": "SLAMF1; SLAM", "gene_names_refseq": "CD150; CDw150; IPO3; SLAMF1; SLAM", "protein_names_uniprotkb": "Signaling lymphocytic activation molecule; CDw150; IPO-3; SLAM family member 1", "protein_names_refseq": "IPO-3; SLAM family member 1; signaling lymphocytic activation molecule isoform a precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:6504)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "10229804;10549287;10607564;10972291;11099315;11313386;11389028;11477068;11689425;11806999;11823424;12225753;12458214;12545174;12629654;14674764;15315965;16317102;16959974;20231852;20818396;21217702;22645359;24190977;24715725;25502872;25710480;25716736;25880248;28467828;28871256;28904123;29242379;29437277;29493099;29508533;29557506;30410026;31217245;31844290;32157095;32350084;32502341;32922371;32983136;33091337;33633747;33717175;33912179;34357683;34433824;34932366;34967540;35051231;35154160;35561310;35853010;36110846;39260308;40914422;7617038;9091591;9774102", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Measles virus; also including isoform 4., [UniProtKB, PubMed, PubMed]; Identification of SLAMF1 as an immune-related key gene associated with rheumatoid arthritis and verified in mice collagen-induced arthritis model. Publication Status: Online-Only, [RefSeq, PubMed]; SLAMF1 as a novel molecule mediating the causal association between rheumatoid arthritis and interstitial lung disease: A Mendelian randomization study combined with transcriptomics and in vivo validation., [RefSeq, PubMed]; SLAMF1 is expressed and secreted by hepatocytes and the liver in nonalcoholic fatty liver disease., [RefSeq, PubMed]; SLAMF1/CD150 expression and topology in prostate and breast cancer cell lines., [RefSeq, PubMed]; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. SLAMF1-induced signal-transduction events in T-lymphocytes are different from those in B-cells. Two modes of SLAMF1 signaling seem to exist: one depending on SH2D1A (and perhaps SH2D1B) and another in which protein-tyrosine phosphatase 2C (PTPN11)-dependent signal transduction operates. Initially it has been proposed that association with SH2D1A prevents binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, signaling is also regulated by SH2D1A which can simultaneously interact with and recruit FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214). Mediates IL-2-independent proliferation of activated T-cells during immune responses and induces IFN-gamma production (By similarity). Downstreaming signaling involves INPP5D, DOK1 and DOK2 leading to inhibited IFN-gamma production in T-cells, and PRKCQ, BCL10 and NFKB1 leading to increased T-cell activation and Th2 cytokine production (By similarity). Promotes T-cell receptor-induced IL-4 secretion by CD4(+) cells (By similarity). Inhibits antigen receptor-mediated production of IFN-gamma, but not IL-2, in CD4(-)/CD8(-) T-cells (By similarity). Required for IL-4 production by germinal centers T follicular helper (T(Fh))cells (By similarity). May inhibit CD40-induced signal transduction in monocyte-derived dendritic cells (PubMed:16317102). May play a role in allergic responses and may regulate allergen-induced Th2 cytokine and Th1 cytokine secretion (By similarity). In conjunction with SLAMF6 controls the transition between positive selection and the subsequent expansion and differentiation of the thymocytic natural killer T (NKT) cell lineage. Involved in the peripheral differentiation of indifferent natural killer T (iNKT) cells toward a regulatory NKT2 type (By similarity). In macrophages involved in down-regulation of IL-12, TNF and nitric oxide in response to lipopolysaccharide (LPS) (By similarity). In B-cells activates the ERK signaling pathway independently of SH2D1A but implicating both, SYK and INPP5D, and activates Akt signaling dependent on SYK and SH2D1A (By similarity). In B-cells also activates p38 MAPK and JNK1 and JNK2 (PubMed:20231852). In conjunction with CD84/SLAMF5 and SLAMF6 may be a negative regulator of the humoral immune response (By similarity). Involved in innate immune response against Gram-negative bacteria in macrophages; probably recognizes OmpC and/or OmpF on the bacterial surface, regulates phagosome maturation and recruitment of the PI3K complex II (PI3KC3-C2) leading to accumulation of PdtIns(3)P and NOX2 activity in the phagosomes (PubMed:20818396)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Upstream open reading frames regulate translation of the long isoform of SLAMF1 mRNA that encodes costimulatory receptor CD150, [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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q5W172;Q9HBE8;W0HKK7", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0042802 identical protein binding;GO:0042169 SH2 domain binding;GO:0001618 virus receptor activity;GO:0003823 antigen binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane;GO:0045335 phagocytic vesicle", "go_biological_process": "GO:0001779 natural killer cell differentiation;GO:0002725 negative regulation of T cell cytokine production;GO:0006955 immune response;GO:0007155 cell adhesion;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q13291-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14241-2", "uniprot_id": [ { "id": "ELOA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14241", "type": "external" } ], "mass": 87230.0, "length": 772, "protein_name": "Elongin-A", "gene_name": "ELOA", "organism": "Human", "refseq_name": "elongin-A", "refseq_ac": [ { "id": "NP_003189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003189", "type": "external" } ], "gene_names_uniprotkb": "ELOA; MSTP059; TCEB3", "gene_names_refseq": "ELOA1; ELOA; SIII p110; SIII; TCEB3A; TCEB3", "protein_names_uniprotkb": "Elongin-A; EloA; Elongin 110 kDa subunit; RNA polymerase II transcription factor SIII subunit A1; SIII p110; Transcription elongation factor B polypeptide 3", "protein_names_refseq": "RNA polymerase II transcription factor SIII subunit A1; elongin 110 kDa subunit; elongin-A; transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A); transcription elongation factor B alpha subunit; transcription elongation factor B polypeptide 3; transcription elongation factor B subunit 3", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:6924); (R-HSA-112382); (R-HSA-167152); (R-HSA-167200); (R-HSA-167238); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-674695); (R-HSA-6796648); (R-HSA-75955)", "pathway_count": 12, "publication_count": 58, "publication_id_list": "10199401;10757782;10866664;10984493;11313498;11313499;11350971;11859374;11884399;11971958;11988847;12676794;14701750;15489290;15781865;17234882;1939271;19690332;19920177;19952111;20068231;20159561;22012619;22988298;23186163;23481700;23538671;2449431;24554720;24662513;25429106;25561469;25712099;26659056;26728094;27543614;27920218;28218747;28228285;28292928;28446606;28832583;28834231;29242379;29393594;31154438;33298525;35633597;38661028;7660122;7660129;7660130;7853496;8370526;8654961;9063748;9450929;9489704", "class_list": "", "function": "As part of a multisubunit complex composed of elongin BC complex (ELOB and ELOC), elongin A/ELOA, RBX1 and CUL5; polyubiquitinates monoubiquitinated POLR2A., [UniProtKB, PubMed]; Elongin A regulates transcription in vivo through enhanced RNA polymerase processivity., [RefSeq, PubMed]; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex)., [UniProtKB, PubMed]; TCEB3 initiates ovarian cancer apoptosis by mediating ubiquitination and degradation of MCL-1., [RefSeq, PubMed]; The Elongin A ubiquitin ligase and the CSB protein function together in a common pathway in response to Pol II stalling and DNA damage, [RefSeq, PubMed]; This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7Q8;Q8IXH1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0070449 elongin complex;GO:0090734 site of DNA damage", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006368 transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q14241-2", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15369-1", "uniprot_id": [ { "id": "ELOC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15369", "type": "external" } ], "mass": 12473.0, "length": 112, "protein_name": "Elongin-C", "gene_name": "ELOC", "organism": "Human", "refseq_name": "elongin-C isoform a", "refseq_ac": [ { "id": "NP_001191786", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191786", "type": "external" } ], "gene_names_uniprotkb": "ELOC; TCEB1", "gene_names_refseq": "ELOC; SIII; TCEB1", "protein_names_uniprotkb": "Elongin-C; EloC; Elongin 15 kDa subunit; RNA polymerase II transcription factor SIII subunit C; SIII p15; Transcription elongation factor B polypeptide 1", "protein_names_refseq": "RNA polymerase II transcription factor SIII subunit C; SIII p15; elongin 15 kDa subunit; elongin-C isoform a; transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C); transcription elongation factor B polypeptide 1; transcription elongation factor B subunit 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6921); (R-HSA-112382); (R-HSA-1234176); (R-HSA-167152); (R-HSA-167200); (R-HSA-167238); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-180585); (R-HSA-674695); (R-HSA-6796648); (R-HSA-75955); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9705462); (R-HSA-983168); (R-HSA-9833109); (R-HSA-9954709)", "pathway_count": 20, "publication_count": 315, "publication_id_list": "10199401;10205047;10535940;10597293;10757782;10811609;10823831;10866664;10878807;10944113;10973499;10984493;11006129;11024059;11062501;11069780;11237011;11259415;11292861;11292862;11313498;11313499;11350924;11350971;11358837;11454738;11504942;11585840;11598268;11733065;11859374;11884399;11961546;11971958;11988847;12004003;12004076;12050673;12101228;12133942;12186903;12351678;12504025;12504026;12526791;12538644;12609982;12615973;12646216;12676794;12682069;12759363;12788921;12816948;12821933;12912907;14512302;14528300;14564014;14690597;14701750;14734113;14757770;15107455;15224091;15224092;15247232;15282312;15361859;15367669;15467733;15474027;15489290;15537541;15571818;15572695;15574592;15590694;15601820;15601839;15652483;15652751;15688063;15694336;15781449;15781865;15799966;15987702;16125763;16127453;16171779;16401342;16408927;16547496;16595681;16647857;16707496;16738327;16790436;16849449;16943200;16954532;17081101;17132228;17182618;17183367;17189197;17220875;17234882;17251292;17304241;17332328;17363902;17392790;17434750;17497243;17785452;17997974;18093314;18184961;18206966;18337469;18562529;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19193793;19208626;19250909;19321346;19352404;1939271;19452197;19453968;19489725;19617556;19706539;19748355;19851334;19874575;19920177;19940261;19952111;20068231;20159561;20532212;21119685;21199876;21335549;21447816;21463634;21632562;21697472;21778237;21863050;21940857;21980433;22012619;22190037;22286099;22306028;22383950;22466964;22510880;22537386;2261476;22959436;22988298;23102700;23201271;23217742;23333871;23401859;23453757;23535662;23535663;23538671;23563313;23583660;23685075;23746841;23837592;23912815;23986495;24076655;24225024;24337577;24366543;24402281;2449431;24554720;24636985;24662513;24793695;24793696;25132172;25242263;25314029;25349211;25355947;25429106;25505247;25531226;25561469;25576301;25578875;25645385;25712099;26041281;26138980;26344709;26460955;26632597;26659056;26906416;26992070;27030794;27222660;27565346;27846572;27920218;28115426;28510447;28514659;28832583;28834231;28904123;29153394;29242379;29557506;29632312;29632711;29775578;29779948;29786170;30166453;30244831;30429286;30524438;30558248;30610225;30833945;31011209;31092671;31182716;31387940;31844290;32005965;32157095;32161166;32284348;32502341;32513959;32897882;32938616;32983136;33268465;33406423;33444648;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34290406;34357683;34700328;34857742;34932366;35051231;35318648;35486881;35512830;35561310;35580925;36010968;36241641;36284347;36754086;36805027;37640699;37676773;37816714;37844242;38177675;38326650;38418882;39039081;39548056;40307207;40440427;40963025;7660122;7660129;7660130;7821821;7853496;8370526;9063748;9122164;9380723;9450929;9489704;9668046;9790970;9885206;9887101;9891082", "class_list": "", "function": "(Microbial infection) Following infection by HIV-1 virus, component of a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex) hijacked by the HIV-1 Vif protein, which catalyzes ubiquitination and degradation of APOBEC3F and APOBEC3G (PubMed:18562529, PubMed:20532212, PubMed:22190037, PubMed:24225024, PubMed:24402281, PubMed:36754086). The complex can also ubiquitinate APOBEC3H to some extent (PubMed:37640699)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Core component of multiple cullin-RING-based ECS (ElonginB/C-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of target proteins (PubMed:10205047, PubMed:12004076, PubMed:12050673, PubMed:15590694, PubMed:21199876, PubMed:26138980, PubMed:29775578, PubMed:29779948, PubMed:30166453, PubMed:33268465, PubMed:38326650, PubMed:35512830, PubMed:37844242, PubMed:39039081, PubMed:40440427). By binding to BC-box motifs it seems to link target recruitment subunits, like VHL and members of the SOCS box family, to Cullin/RBX1 modules that activate E2 ubiquitination enzymes (PubMed:10205047, PubMed:12004076, PubMed:12050673, PubMed:15590694). Component the von Hippel-Lindau ubiquitination complex CBC(VHL) (PubMed:10205047, PubMed:12004076, PubMed:12050673, PubMed:15590694). A number of ECS complexes (containing either KLHDC2, KLHDC3, KLHDC10, APPBP2, FEM1A, FEM1B or FEM1C as substrate-recognition component) are part of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation (PubMed:26138980, PubMed:29775578, PubMed:29779948, PubMed:36805027, PubMed:37844242, PubMed:38177675). The ECS(ASB9) complex mediates ubiquitination and degradation of CKB (PubMed:33268465). As part of a multisubunit ubiquitin ligase complex, polyubiquitinates monoubiquitinated POLR2A (PubMed:19920177). ECS(LRR1) ubiquitinates MCM7 and promotes CMG replisome disassembly by VCP and chromatin extraction during S-phase (By similarity). As part of the ECS(RAB40C) complex, mediates ANKRD28 ubiquitination and degradation, thereby inhibiting protein phosphatase 6 (PP6) complex activity and focal adhesion assembly during cell migration (PubMed:35512830). The ECS(ASB7) complex acts a negative regulator of H3K9me3 histone mark by mediating ubiquitination and degradation of SUV39H1 (PubMed:40440427). As part of the ECS(LRRC58) complex, mediates CDO1 ubiquitination and degradation, regulating cysteine catabolism (PubMed:40963025)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex) (PubMed:7821821). In embryonic stem cells, the elongin BC complex is recruited by EPOP to Polycomb group (PcG) target genes in order generate genomic region that display both active and repressive chromatin properties, an important feature of pluripotent stem cells (By similarity)., [UniProtKB, PubMed, UniProtKB]; This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been identified. [provided by RefSeq, Mar 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E5RGD9;Q567Q6", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0001222 transcription corepressor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0031462 Cul2-RING ubiquitin ligase complex;GO:0031466 Cul5-RING ubiquitin ligase complex;GO:0070449 elongin complex", "go_biological_process": "GO:2000104 negative regulation of DNA-templated DNA replication;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 31.8, "record_id": "Q15369-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01201-1", "uniprot_id": [ { "id": "RELB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01201", "type": "external" } ], "mass": 62134.0, "length": 579, "protein_name": "Transcription factor RelB", "gene_name": "RELB", "organism": "Human", "refseq_name": "transcription factor RelB isoform 1", "refseq_ac": [ { "id": "NP_006500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006500", "type": "external" } ], "gene_names_uniprotkb": "RELB", "gene_names_refseq": "I-REL; IMD53; IREL; REL-B; RELB", "protein_names_uniprotkb": "Transcription factor RelB; I-Rel", "protein_names_refseq": "transcription factor RelB isoform 1; transcription factor RelB; v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3); v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3", "tax_id": 9606, "disease": "immunodeficiency 53 (Disease Ontology:DOID:0111992); bacterial infectious disease (Disease Ontology:DOID:104); prediabetes syndrome (Disease Ontology:DOID:11716); breast cancer (Disease Ontology:DOID:1612); transitional cell carcinoma (Disease Ontology:DOID:2671); atopic dermatitis (Disease Ontology:DOID:3310); ureteral obstruction (Disease Ontology:DOID:5199); kidney disease (Disease Ontology:DOID:557); muscular atrophy (Disease Ontology:DOID:767)", "pathway": " (hsa:5971); (R-HSA-5607761); (R-HSA-5621575); (R-HSA-5676590)", "pathway_count": 4, "publication_count": 89, "publication_id_list": "10721994;11017109;11237011;11239468;11520989;12456660;12515809;12628924;14676825;15140882;15340381;15520807;1577270;16135789;16303288;16434485;17047224;1732739;17462920;18385332;18669648;19122653;19197368;19690332;20068231;20363321;20501935;20873783;22565310;22718757;23481700;24129315;24715725;25267645;25576301;26154972;26385063;26811146;27846572;28218747;28228285;28832583;28860189;28904123;29242379;29437277;29493099;29508533;29632711;29786170;30315122;30379171;31399573;31530632;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;33981976;34171305;34211107;34509645;34561969;35051231;35580925;36010968;36402602;36863451;37175530;38139378;39231201;7517401;7925301;8441398;8706131;8921937;9346238;9520446;9660950;9742107", "class_list": "", "function": "Inflammation in Hypervolemic Hemodialysis Patients: The Roles of RelB and Caspase-4. Publication Status: Online-Only, [RefSeq, PubMed]; Inherited human RelB deficiency impairs innate and adaptive immunity to infection., [RefSeq, PubMed]; NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric RelB-p50 and RelB-p52 complexes are transcriptional activators. RELB neither associates with DNA nor with RELA/p65 or REL. Stimulates promoter activity in the presence of NFKB2/p49. As a member of the NUPR1/RELB/IER3 survival pathway, may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer in a CRY1/CRY2 independent manner. Increased repression of the heterodimer is seen in the presence of NFKB2/p52. Is required for both T and B lymphocyte maturation and function (PubMed:26385063)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; NF-kappaB Signaling Modulates miR-452-5p and miR-335-5p Expression to Functionally Decrease Epithelial Ovarian Cancer Progression in Tumor-Initiating Cells. Publication Status: Online-Only, [RefSeq, PubMed]; NFkappaB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity., [RefSeq, PubMed]; RelB represses miR-193a-5p expression to promote the phenotypic transformation of vascular smooth muscle cells in aortic aneurysm., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6GTX7;Q9UEI7", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q01201-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQZ2-1", "uniprot_id": [ { "id": "SAS10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQZ2", "type": "external" } ], "mass": 54558.0, "length": 479, "protein_name": "Something about silencing protein 10", "gene_name": "UTP3", "organism": "Human", "refseq_name": "something about silencing protein 10", "refseq_ac": [ { "id": "NP_065101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065101", "type": "external" } ], "gene_names_uniprotkb": "UTP3; CRLZ1; SAS10", "gene_names_refseq": "CRL1; CRLZ1; SAS10; UTP3", "protein_names_uniprotkb": "Something about silencing protein 10; CRL1; Charged amino acid-rich leucine zipper 1; Disrupter of silencing SAS10; UTP3 homolog", "protein_names_refseq": "UTP3 homolog; UTP3, small subunit processome component homolog; charged amino acid rich leucine zipper 1 homolog; charged amino acid-rich leucine zipper 1; disrupter of silencing 10; disrupter of silencing SAS10; something about silencing protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:57050); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 138, "publication_id_list": "10606270;11081632;11230166;11922599;11935223;11978965;12068309;12150911;12417735;15199136;16037817;16043514;16381836;16738141;16782898;16964243;17081983;17189298;17353269;17412707;17525332;17636026;18065403;18438418;18452278;18669648;18767875;18991276;19007248;19033376;19106111;19332556;19413330;19415658;19463982;19564402;19651622;19690332;19691289;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21406692;22072790;22190735;22195017;22916032;23186163;23391857;23439679;23481700;23482395;2388630;24086612;24424021;24550520;24714562;24715725;25411247;25418920;25525153;25576301;25645385;25653167;25851604;25880248;25969445;26085946;26196125;26237581;26375851;26728094;26992070;27084949;27600516;27920218;28218747;28228285;28446606;28832583;28834231;29242379;29393594;29437277;29493099;29508533;29557506;30192525;30315122;30429286;30524438;30833945;31092671;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33392160;33592498;33691108;33717175;33912179;33968037;34087483;34516797;34932366;35051231;35318648;35494241;35561310;35580925;36010968;36241641;36245126;40914422;9211966;9482744;9512526", "class_list": "", "function": "Essential for gene silencing: has a role in the structure of silenced chromatin. Plays a role in the developing brain (By similarity). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; HCP5 prevents ubiquitination-mediated UTP3 degradation to inhibit apoptosis by activating c-Myc transcriptional activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6FI82", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0007420 brain development;GO:0006325 chromatin organization;GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "Q9NQZ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N895-1", "uniprot_id": [ { "id": "ZN366_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N895", "type": "external" } ], "mass": 85107.0, "length": 744, "protein_name": "Zinc finger protein 366", "gene_name": "ZNF366", "organism": "Human", "refseq_name": "zinc finger protein 366", "refseq_ac": [ { "id": "NP_689838", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689838", "type": "external" } ], "gene_names_uniprotkb": "ZNF366", "gene_names_refseq": "DC-SCRIPT; DCSCRIPT; ZNF366", "protein_names_uniprotkb": "Zinc finger protein 366; DC-SCRIPT; Dendritic cell-specific transcript protein", "protein_names_refseq": "dendritic cell-specific transcript protein; zinc finger protein 366", "tax_id": 9606, "disease": "DiGeorge syndrome (Disease Ontology:DOID:11198)", "pathway": " (hsa:167465)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;12234665;16393996;17085477;19525478;20478364;26170389;27862975;28832583;29557506;30192525;30315122;31154438;32157095;32350084;32983136;33141586;33936100;34185709;35051231;35251023;35580925;36010968", "class_list": "", "function": "DC-SCRIPT can act as a tumor suppressor in breast cancer development.[review] Review article, [RefSeq, PubMed]; DC-SCRIPT consists of a proline-rich region, 11 C2H2-type zinc fingers, and an acidic region. Localization studies reveal that DC-SCRIPT resides in the nucleus and that nuclear localization is critically dependent on the zinc fingers. (DC-SCRIPT), [RefSeq, PubMed]; Has transcriptional repression activity. Acts as a corepressor of ESR1; the function seems to involve CTBP1 and histone deacetylases., [UniProtKB, PubMed]; Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results indicate that ZNF366 may play an important role in regulating the expression of genes in response to estrogen., [RefSeq, PubMed]; These data demonstrate that besides nuclear receptor regulation, DC-SCRIPT also modulates activation of NF-kappaBp65 after TLR activation in human DCs., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 33, "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": "Q5HYI9;Q7RTV4", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0030331 nuclear estrogen receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0043627 response to estrogen;GO:0033147 negative regulation of intracellular estrogen receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8N895-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3L8U1-1", "uniprot_id": [ { "id": "CHD9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3L8U1", "type": "external" } ], "mass": 326022.0, "length": 2897, "protein_name": "ATP-dependent chromatin remodeler CHD9", "gene_name": "CHD9", "organism": "Human", "refseq_name": "ATP-dependent chromatin remodeler CHD9 isoform 1", "refseq_ac": [ { "id": "NP_001295248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295248", "type": "external" } ], "gene_names_uniprotkb": "CHD9; AD-013; KIAA0308; KISH2; PRIC320; x0008", "gene_names_refseq": "AD013; CHD-9; CHD9; CReMM; KISH2; PRIC320", "protein_names_uniprotkb": "ATP-dependent chromatin remodeler CHD9; 3.6.4.-; CHD-9; CReMM; Chromatin-related mesenchymal modulator; Chromatin-remodeling factor CHROM1; Chromo domain-containing protein 9; Kismet homolog 2; PPAR-alpha-interacting complex protein 320 kDa; Peroxisomal proliferator-activated receptor A-interacting complex 320 kDa protein", "protein_names_refseq": "ATP-dependent chromatin remodeler CHD9 isoform 1; ATP-dependent chromatin remodeler CHD9; ATP-dependent helicase CHD9; PPAR-alpha-interacting complex protein 320 kDa; PPAR{gamma}-interacting cofactor 320 kDa; chromatin remodeling factor CHROM1; chromatin-related mesenchymal modulator; chromo domain-containing protein 9; ciprofibrate bound protein p240; kismet homolog 2; peroxisomal proliferator-activated receptor A-interacting complex 320 kDa protein; proteinx0008", "tax_id": 9606, "disease": "CHARGE syndrome (Disease Ontology:DOID:0050834); autism spectrum disorder (Disease Ontology:DOID:0060041); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:80205); (R-HSA-1368108); (R-HSA-1989781); (R-HSA-2151201); (R-HSA-2426168); (R-HSA-381340); (R-HSA-400206); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9931509); (R-HSA-9933387); (R-HSA-9943962)", "pathway_count": 12, "publication_count": 294, "publication_id_list": "10.1101/2023.09.13.557529;10075656;10198158;10381560;10400691;10412986;10425206;10494028;10529898;10643692;10713165;10759542;10777541;10921920;10931946;11018023;11095972;11162494;11226238;11237011;11241162;11267664;11274398;11330046;11340167;11356022;11387216;11414710;11507205;11744694;11779144;11809803;11872672;12083769;12118000;12130498;12130638;12177166;12213831;12356737;12374852;12377782;12406875;12505311;12511571;12563009;12582161;12738229;12745923;12764144;12829629;12969439;1377680;14672706;14980219;15067378;15130092;15175654;15273253;15500444;15560782;15635043;15665827;15684387;15761026;15850785;15919796;15960975;16079181;16079853;16095617;16380219;16476485;16503871;16523501;16554032;16568091;16705189;16788062;16857194;16878130;16890199;16908542;16911507;16949368;16972786;17007889;17011499;17027977;17031457;17081983;17143291;17264172;17306620;17350655;17437997;17449569;17603073;17715127;17923681;17925399;17980149;18006707;18037887;18215119;18288277;18292238;18343819;18378692;18540824;18559965;18587630;18654640;18669648;18680753;18682402;18719978;18726356;18848529;18931025;19001277;19043829;19088433;19115207;19172745;19289416;19356719;19417006;19608861;1968462;19690164;19690332;19710360;19710929;1971514;19934321;19951946;19968714;20068231;20101261;20110263;20138239;20450493;20453063;20581824;20719759;20817722;20929863;20937905;21479263;21628546;21889235;21899694;22381047;22427940;22634312;23186163;23239344;23285124;23408615;23481700;24196956;24714562;25218447;2539258;25576301;25645385;25772364;25880248;26154972;26992070;27071062;2713875;27600516;27754849;27846572;27920218;28111073;28218747;28514659;28533432;28698372;28832583;28834231;28904123;29242379;29331515;29437277;29557506;29632711;2991279;30315122;30379171;30429286;30524438;31154438;31217245;31222486;31530632;31748741;31844290;31848261;31998317;32157095;32161166;32354867;32357974;32387766;32453735;32488085;32502341;32695117;32897882;32938616;32983136;33141586;33298915;33392160;3345742;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34185709;3427020;34509645;3475708;34932366;35051231;35318648;35526384;35561310;35580925;36010968;36241641;36284347;37217939;37938771;39302247;39534244;6094553;6261960;7567999;7592729;7629110;7685352;7732023;7799916;7892212;7909540;7981125;8020941;8060328;8108407;8156598;8325954;8333869;8386511;8402897;8415693;8618898;8619637;8622974;8626466;8626488;8643605;8647822;8663599;8706692;8770873;8798690;8887638;8970730;8976377;9012850;9062340;9065481;9079689;9099716;9144434;9171241;9178750;9286700;9454824;9604010;9634533;9748239;9748295;9836620", "class_list": "", "function": "CReMM is a chromodomain helicase-DNA-binding protein expressed by osteoprogenitors, [RefSeq, PubMed]; Chromatin immunoprecipitation assay was applied to follow the dynamics of CReMM binding to A/T-rich regions on promoters of genes that play a role in osteoblast maturation., [RefSeq, PubMed]; Gene expression regulation by the Chromodomain helicase DNA-binding protein 9 (CHD9) chromatin remodeler is dispensable for murine development. Publication Status: Online-Only, [RefSeq, PubMed]; Probable ATP-dependent chromatin-remodeling factor. Acts as a transcriptional coactivator for PPARA and possibly other nuclear receptors. Has DNA-dependent ATPase activity and binds to A/T-rich DNA. Associates with A/T-rich regulatory regions in promoters of genes that participate in the differentiation of progenitors during osteogenesis (By similarity)., [UniProtKB, PubMed, PubMed]; The CHD9 (CReMM) protein is extensively phosphorylated, has DNA-dependent ATPase activity, and binds to A/T-rich DNA. It is also expressed in mesenchymal progenitors., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 66, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RTU2;B9ZVQ0;O15025;Q1WF12;Q6DTK9;Q9H9V7;Q9UHM2", "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": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "1.14.19.44", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.44", "type": "external" }, { "id": "2.4.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.17", "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": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "1.3.8.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.7", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "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": "1.14.14.23", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.23", "type": "external" }, { "id": "1.14.14.26", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.26", "type": "external" }, { "id": "2.3.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.21", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "2.5.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.21", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "1.1.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.40", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "type": "external" }, { "id": "2.8.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.14", "type": "external" }, { "id": "2.8.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.2", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.8.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.9", "type": "external" }, { "id": "1.11.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.2", "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": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 30.2, "record_id": "Q3L8U1-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43897-1", "uniprot_id": [ { "id": "EFTS_HUMAN", "url": "https://www.uniprot.org/uniprot/P43897", "type": "external" } ], "mass": 35391.0, "length": 325, "protein_name": "Elongation factor Ts, mitochondrial", "gene_name": "TSFM", "organism": "Human", "refseq_name": "elongation factor Ts, mitochondrial isoform 3 precursor", "refseq_ac": [ { "id": "NP_001166166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166166", "type": "external" } ], "gene_names_uniprotkb": "TSFM", "gene_names_refseq": "EFTSMT; EFTS; TSFM", "protein_names_uniprotkb": "Elongation factor Ts, mitochondrial; EF-TsMt; EF-Ts", "protein_names_refseq": "elongation factor Ts, mitochondrial isoform 3 precursor; mitochondrial elongation factor Ts", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 3 (Disease Ontology:DOID:0111486)", "pathway": " (hsa:10102); (R-HSA-5389840)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "11237011;15358359;17033963;19524667;19690332;19716793;20166139;21741925;22172991;22499341;2250005;23186163;23481700;24275569;24715725;25037205;25576301;26154972;26992070;27677415;27846572;27920218;28228285;28510447;28514659;28834231;30911037;31154438;31217245;31844290;32157095;32357974;32387766;32938616;33141586;33298915;33592498;33912179;33936100;33968037;34211107;34357683;34509645;35051231;35561310;36010968;37217939;38578353;40914422;7615523", "class_list": "", "function": "Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome. Participates in mitochondrial translation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, HAMAP, PubMed]; Different TSFM mutations can produce the same or very different clinical phenotypes, going from abortions to moderately severe presentations. On the other hand, the same TSFM mutation can also produce same or different phenotypes within the same range of presentations, therefore suggesting the involvement of unknown factors., [RefSeq, PubMed]; Molecular modeling showed that the Arg333Trp substitution disrupts local subdomain structure and the dimerization interface., [RefSeq, PubMed]; Short-term regulation of TSFM level does not alter amyloidogenesis and mitochondrial function in type-specific cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4E391;F5H2T7;Q561V7;Q8TBC2;Q9UQK0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0003746 translation elongation factor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0070125 mitochondrial translational elongation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "P43897-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15813-1", "uniprot_id": [ { "id": "CD1D_HUMAN", "url": "https://www.uniprot.org/uniprot/P15813", "type": "external" } ], "mass": 37717.0, "length": 335, "protein_name": "Antigen-presenting glycoprotein CD1d", "gene_name": "CD1D", "organism": "Human", "refseq_name": "antigen-presenting glycoprotein CD1d isoform 2 precursor", "refseq_ac": [ { "id": "NP_001306074", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306074", "type": "external" } ], "gene_names_uniprotkb": "CD1D", "gene_names_refseq": "CD1D; R3G1; R3", "protein_names_uniprotkb": "Antigen-presenting glycoprotein CD1d; R3G1", "protein_names_refseq": "CD1D antigen, d polypeptide; HMC class I antigen-like glycoprotein CD1D; T-cell surface glycoprotein CD1d; antigen-presenting glycoprotein CD1d isoform 2 precursor; antigen-presenting glycoprotein CD1d; thymocyte antigen CD1D", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); dengue hemorrhagic fever (Disease Ontology:DOID:12206); urinary schistosomiasis (Disease Ontology:DOID:1394); pulmonary tuberculosis (Disease Ontology:DOID:2957)", "pathway": " (hsa:912); (R-HSA-198933)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "10488738;10499918;10746781;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11927549;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16007090;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16818729;16893496;16904340;16928187;17045824;17057721;17237375;17337780;17475845;17581592;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19349973;19359216;19592130;20368272;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24190977;24305946;2463622;2467814;25703557;25716998;26284469;26300885;28467828;29242379;3097645;31844290;32357974;32387766;32502341;32512511;33128583;33592498;34357683;37077920;37735500;37972257;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896;9973405", "class_list": "glycogene", "function": "Antigen-presenting protein that binds self and non-self glycolipids and presents them to T-cell receptors on natural killer T-cells., [UniProtKB, PubMed, UniProtKB, UniProtKB]; CD1d expression in glioblastoma is a promising target for NKT cell-based cancer immunotherapy., [RefSeq, PubMed]; Cancer-associated fibroblasts express CD1d and activate invariant natural killer T cells under cellular stress. Erratum:[Cell Mol Immunol. 2025 Jun;22(6):692. doi: 10.1038/s41423-025-01274-x. PMID: 40295837], [RefSeq, PubMed]; Epigenetic control of CD1D expression as a mechanism of resistance to immune checkpoint therapy in poorly immunogenic melanomas. Publication Status: Online-Only, [RefSeq, PubMed]; Low oxygen saturation during sleep reduces CD1D and RAB20 expressions that are reversed by CPAP therapy., [RefSeq, PubMed]; This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]; Varicella Zoster Virus Downregulates Expression of the Nonclassical Antigen Presentation Molecule CD1d., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 550, "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": "D3DVD5;Q5W0J3;Q9UMM3;Q9Y5M4", "ec_number_list": [], "go_molecular_function": "GO:0030881 beta-2-microglobulin binding;GO:0050839 cell adhesion molecule binding;GO:0030883 endogenous lipid antigen binding;GO:0030884 exogenous lipid antigen binding;GO:0071723 lipopeptide binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0006955 immune response;GO:0045087 innate immune response;GO:0016045 detection of bacterium;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:0048007 antigen processing and presentation, exogenous lipid antigen via MHC class Ib", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "P15813-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYQ6-1", "uniprot_id": [ { "id": "CELR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYQ6", "type": "external" } ], "mass": 329486.0, "length": 3014, "protein_name": "Cadherin EGF LAG seven-pass G-type receptor 1", "gene_name": "CELSR1", "organism": "Human", "refseq_name": "cadherin EGF LAG seven-pass G-type receptor 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_055061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055061", "type": "external" } ], "gene_names_uniprotkb": "CELSR1; CDHF9; FMI2", "gene_names_refseq": "ADGRC1; CDHF9; CELSR1; FMI2; HFMI2; LMPHM9; ME2; YNS", "protein_names_uniprotkb": "Cadherin EGF LAG seven-pass G-type receptor 1; Cadherin family member 9; Flamingo homolog 2; hFmi2", "protein_names_refseq": "adhesion G protein-coupled receptor C1; cadherin EGF LAG seven-pass G-type receptor 1 isoform 2 precursor; cadherin family member 9; cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila); flamingo homolog 2; protocadherin flamingo 2", "tax_id": 9606, "disease": "yellow nail syndrome (Disease Ontology:DOID:0050468); hereditary lymphedema (Disease Ontology:DOID:0050580); neural tube defects, susceptibility to (MONDO:MONDO:0020705); lymphatic malformation 9 (MONDO:MONDO:0030270)", "pathway": " (hsa:9620)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10716726;11237011;11807409;12782967;17081983;18477386;18669648;22095531;23090970;23481700;23584533;24190977;24715725;25548167;25576301;25645385;26855770;26992070;28832583;29242379;29493099;29508533;29557506;29632711;29741879;29789417;30459171;30524438;30833945;31092671;31154438;31215153;31844290;31998317;32157095;32161166;32387766;32502341;32938616;32983136;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34509645;35051231;35289036;35494241;35580925;36284347;37074911;37217939;37225411;37232218;38070011;38253038;38272662;38307021;39715557", "class_list": "", "function": "CELSR1, a core planar cell polarity protein, features a weakly adhesive and flexible cadherin ectodomain., [RefSeq, PubMed]; De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops. Publication Status: Online-Only, [RefSeq, PubMed]; Exclusion as a candidate gene for schizophrenia-- a cadhrin gene, [RefSeq, PubMed]; Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome., [RefSeq, PubMed]; Receptor that may have an important role in cell/cell signaling during nervous system formation., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of CELSR1 expression promotes ovarian cancer cell proliferation, migration, and invasion. Publication Status: Online-Only, [RefSeq, PubMed]; Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants. Publication Status: Online-Only, [RefSeq, PubMed]; Variations in the nine ectodomains of CELSR1 do not increase susceptibility to schizophrenia. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 15, "predicted_n_glycosites": 11, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 169, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 46, "disease_count": 4, "glyco_site_count": 35, "binding_glycan_count": 0, "secondary_ac_list": "O95722;Q5TH47;Q9BWQ5;Q9Y506;Q9Y526", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0016020 membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0032956 regulation of actin cytoskeleton organization;GO:0001764 neuron migration;GO:0007417 central nervous system development;GO:0007266 Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9NYQ6-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68CQ4-1", "uniprot_id": [ { "id": "UTP25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68CQ4", "type": "external" } ], "mass": 87055.0, "length": 756, "protein_name": "U3 small nucleolar RNA-associated protein 25 homolog", "gene_name": "UTP25", "organism": "Human", "refseq_name": "U3 small nucleolar RNA-associated protein 25 homolog", "refseq_ac": [ { "id": "NP_055203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055203", "type": "external" } ], "gene_names_uniprotkb": "UTP25; C1orf107; DEF; DIEXF", "gene_names_refseq": "C1orf107; DEF; DIEXF; DJ434O14.5; UTP25", "protein_names_uniprotkb": "U3 small nucleolar RNA-associated protein 25 homolog; Digestive organ expansion factor homolog; UTP25 small subunit processor component", "protein_names_refseq": "U3 small nucleolar RNA-associated protein 25 homolog; UTP25 small subunit processor component; digestive-organ expansion factor homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:27042); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 122, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;15199136;16037817;16043514;16322560;16381836;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18212344;18438418;18452278;18802091;19033376;19106111;19332556;19413330;19463982;19564402;19801658;20038530;20047967;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22002106;22072790;22190735;22195017;22916032;23186163;23357851;23391857;23439679;23482395;2388630;24086612;24424021;24550520;25007945;25411247;25418920;25525153;25576301;25645385;25653167;25802875;25851604;25892735;25969445;26085946;26196125;26237581;26992070;27084949;27657329;28228285;28510447;28514659;28832583;28904123;29242379;29331515;29393594;29508533;29557506;29632046;29632711;30315122;30779550;30833945;31154438;31530632;31844290;31848261;32041475;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;34171305;34185709;35051231;35251023;35580925;36010968;36241641;37217939;37938771;9211966;9482744;9512526", "class_list": "", "function": "Characterization of the related zebrafish protein, [RefSeq, PubMed]; Colonic tissue from patients with Hirschsprung's disease showed lower expression levels of digestive-organ expansion factor (DIEXF). Publication Status: Online-Only, [RefSeq, PubMed]; Component of the ribosomal small subunit processome for the biogenesis of ribosomes, functions in pre-ribosomal RNA (pre-rRNA) processing (By similarity). Essential for embryonic development in part through the regulation of p53 pathway. Controls the expansion growth of digestive organs and liver (PubMed:23357851, PubMed:25007945, PubMed:27657329). Also involved in the sympathetic neuronal development (By similarity). Mediates, with CAPN3, the proteasome-independent degradation of p53/TP53 (PubMed:23357851, PubMed:27657329)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Tissue and cancer-specific expression of DIEXF is epigenetically mediated by an Alu repeat., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "O75992;Q4VY00;Q63HL9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019843 rRNA binding;GO:0034511 U3 snoRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:1902570 protein localization to nucleolus;GO:0040019 positive regulation of embryonic development;GO:0030163 protein catabolic process;GO:0031648 protein destabilization;GO:0048568 embryonic organ development", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q68CQ4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SZQ8-1", "uniprot_id": [ { "id": "CELF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SZQ8", "type": "external" } ], "mass": 50548.0, "length": 465, "protein_name": "CUGBP Elav-like family member 3", "gene_name": "CELF3", "organism": "Human", "refseq_name": "CUGBP Elav-like family member 3 isoform 3", "refseq_ac": [ { "id": "NP_001166120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166120", "type": "external" } ], "gene_names_uniprotkb": "CELF3; BRUNOL1; CAGH4; ERDA4; TNRC4", "gene_names_refseq": "BRUNOL1; CAGH4; CELF3; ERDA4; ETR-1; TNRC4", "protein_names_uniprotkb": "CUGBP Elav-like family member 3; Bruno-like protein 1; CAG repeat protein 4; CELF-3; CUG-BP- and ETR-3-like factor 3; ELAV-type RNA-binding protein 1; ETR-1; Expanded repeat domain protein CAG/CTG 4; RNA-binding protein BRUNOL-1; Trinucleotide repeat-containing gene 4 protein", "protein_names_refseq": "CAG repeat domain; CAG repeat protein 4; CUG-BP- and ETR-3-like factor 3; CUGBP Elav-like family member 3 isoform 3; ELAV-type RNA-binding protein 1; RNA-binding protein BRUNOL-1; bruno-like protein 1; expanded repeat domain protein CAG/CTG 4; expanded repeat domain, CAG/CTG 4; trinucleotide repeat containing 4; trinucleotide repeat-containing gene 4 protein", "tax_id": 9606, "disease": "myotonic dystrophy type 1 (Disease Ontology:DOID:11722); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:11189)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10893231;11158314;11237011;15009664;19913121;20628086;25145264;30132996;31154438;32938616;33717175;33912179;33968037;35051231;37938771;9225980", "class_list": "", "function": "CELF3 expression is associated with colorectal cancer metastasis., [RefSeq, PubMed]; Gomafu indirectly modulates the function of the splicing factors SF1 and Celf3 by sequestering these proteins into separate nuclear bodies., [RefSeq, PubMed]; Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]., [RefSeq]; 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]; RNA-binding protein involved in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "B7ZKK6;O15414;Q499Y6;Q5SZQ7;Q6NVK0;Q8IZ98;Q9BZC2;Q9HB30", "ec_number_list": [], "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0097322 7SK snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0048026 positive regulation of mRNA splicing, via spliceosome;GO:0008380 RNA splicing;GO:0006376 mRNA splice site recognition;GO:0000381 regulation of alternative mRNA splicing, via spliceosome;GO:0006397 mRNA processing", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q5SZQ8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14584-1", "uniprot_id": [ { "id": "ZN266_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14584", "type": "external" } ], "mass": 62116.0, "length": 549, "protein_name": "Zinc finger protein 266", "gene_name": "ZNF266", "organism": "Human", "refseq_name": "zinc finger protein 266 isoform 1", "refseq_ac": [ { "id": "NP_001258243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258243", "type": "external" } ], "gene_names_uniprotkb": "ZNF266; KIAA2007", "gene_names_refseq": "HZF1; ZNF266", "protein_names_uniprotkb": "Zinc finger protein 266; Zinc finger protein HZF1", "protein_names_refseq": "zinc finger protein 1; zinc finger protein 266 isoform 1; zinc finger protein HZF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10781); (R-HSA-212436)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25892735;29493099;30379171;33968037;37217939;7865130;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein containing many tandem zinc-finger motifs. Zinc fingers are protein or nucleic acid-binding domains, and may be involved in a variety of functions, including regulation of transcription. This gene is located in a cluster of similar genes encoding zinc finger proteins on chromosome 19. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AV90;A4FU85;Q6IQ07;Q6U8A5;Q8IVG3;Q8WVX1;Q96SX9", "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: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": 2.4, "record_id": "Q14584-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16600-1", "uniprot_id": [ { "id": "ZN239_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16600", "type": "external" } ], "mass": 51591.0, "length": 458, "protein_name": "Zinc finger protein 239", "gene_name": "ZNF239", "organism": "Human", "refseq_name": "zinc finger protein 239 isoform a", "refseq_ac": [ { "id": "NP_001092752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092752", "type": "external" } ], "gene_names_uniprotkb": "ZNF239; HOK2; MOK2", "gene_names_refseq": "HOK-2; MOK2; ZNF239", "protein_names_uniprotkb": "Zinc finger protein 239; Zinc finger protein HOK-2; Zinc finger protein MOK-2", "protein_names_refseq": "zinc finger protein (C2H2) homologous to mouse MOK-2; zinc finger protein 239 isoform a; zinc finger protein HOK-2; zinc finger protein MOK-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8187)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "12409453;17081983;19490114;19913121;20628086;20641033;23186163;24715725;25576301;32983136;33592498;39894887;8587123", "class_list": "", "function": "In this study, we identify a novel interaction between lamin A/C and hsMOK2 by using the yeast two-hybrid system, [RefSeq, PubMed]; MOK2 proteins are DNA- and RNA-binding proteins that are mainly associated with nuclear RNP components, including the nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed 9121460]).[supplied by OMIM, Mar 2008]., [RefSeq]; May be involved in transcriptional regulation., [UniProtKB]; Observational study and genome-wide association study of gene-disease association. (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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T1G9;Q8TAS5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "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", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q16600-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NL3-1", "uniprot_id": [ { "id": "ZN599_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NL3", "type": "external" } ], "mass": 67492.0, "length": 588, "protein_name": "Zinc finger protein 599", "gene_name": "ZNF599", "organism": "Human", "refseq_name": "zinc finger protein 599", "refseq_ac": [ { "id": "NP_001007249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007249", "type": "external" } ], "gene_names_uniprotkb": "ZNF599", "gene_names_refseq": "ZNF599", "protein_names_uniprotkb": "Zinc finger protein 599", "protein_names_refseq": "zinc finger protein 599", "tax_id": 9606, "disease": "", "pathway": " (hsa:148103); (R-HSA-212436)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;21076407;2163759;28904123;35051231;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q569K0;Q5PRG1", "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": 1.8, "record_id": "Q96NL3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUI6-1", "uniprot_id": [ { "id": "CHADL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUI6", "type": "external" } ], "mass": 82388.0, "length": 762, "protein_name": "Chondroadherin-like protein", "gene_name": "CHADL", "organism": "Human", "refseq_name": "chondroadherin-like protein precursor", "refseq_ac": [ { "id": "NP_612490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612490", "type": "external" } ], "gene_names_uniprotkb": "CHADL; SLRR4B", "gene_names_refseq": "CHADL; SLRR4B", "protein_names_uniprotkb": "Chondroadherin-like protein", "protein_names_refseq": "chondroadherin-like protein precursor; chondroadherin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:150356)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;18477386;25451920;28319091;28904123;29242379;29557506;30192525;31154438;31530632;31844290;32488085;32983136;33592498;33968037;35051231;35580925;36010968", "class_list": "", "function": "CHADL appears to have a negative regulatory role, possibly ensuring the formation of a stable extracellular matrix., [RefSeq, PubMed]; Data show that a rare missense variant in the COMP gene (cartilage oligomeric matrix protein) and a frameshift variant in the CHADL gene (chondroadherin-like protein) strongly associate with osteoarthritis total hip replacement. Erratum:[Nat Genet. 2017 Jul 27;49(8):1286. doi: 10.1038/ng0817-1286b. PMID: 28747754], [RefSeq, PubMed]; Potential negative modulator of chondrocyte differentiation. Inhibits collagen fibrillogenesis in vitro. May influence chondrocyte's differentiation by acting on its cellular collagenous microenvironment., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q05CY2;Q4G0S0;Q5JY13;Q86XY1;Q96E60", "ec_number_list": [], "go_molecular_function": "GO:0005518 collagen binding;GO:0098633 collagen fibril binding;GO:0038023 signaling receptor activity;GO:0030021 extracellular matrix structural constituent conferring compression resistance", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix;GO:0140150 gel phase of interstitial matrix", "go_biological_process": "GO:0032331 negative regulation of chondrocyte differentiation;GO:1904027 negative regulation of collagen fibril organization", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q6NUI6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P86791-1", "uniprot_id": [ { "id": "CCZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/P86791", "type": "external" } ], "mass": 55866.0, "length": 482, "protein_name": "Vacuolar fusion protein CCZ1 homolog", "gene_name": "CCZ1", "organism": "Human", "refseq_name": "vacuolar fusion protein CCZ1 homolog", "refseq_ac": [ { "id": "NP_056437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056437", "type": "external" } ], "gene_names_uniprotkb": "CCZ1; C7orf28A; CGI-43", "gene_names_refseq": "C7orf28A; CCZ1A; CCZ1; CGI-43; H_DJ1163J12.2", "protein_names_uniprotkb": "Vacuolar fusion protein CCZ1 homolog", "protein_names_refseq": "CCZ1 homolog, vacuolar protein trafficking and biogenesis associated; CCZ1 vacuolar protein trafficking and biogenesis associated homolog; H_NH0577018.2; vacuolar fusion protein CCZ1 homolog", "tax_id": 9606, "disease": "Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753)", "pathway": " (hsa:221960); (hsa:51622); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 252, "publication_id_list": "10818110;10990452;11038176;11179213;11516400;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16410077;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;17897319;18076383;18094055;18220336;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18669648;18701652;18779367;18804435;18991276;1900457;19109890;19345684;19403694;19490898;19620288;19656848;19725050;19729655;19745841;20008558;20112406;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20709422;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;21993680;22013193;22065758;22072793;22171327;22223895;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23481700;23645161;23678941;23684622;23713133;23839779;24296415;24644286;24694596;24714562;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25418920;25472813;25576301;25645385;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26929215;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27543614;27600516;27920218;28063628;28218747;28228285;28514659;28832583;28834231;29038162;29242379;29331515;29393594;29437277;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;30779550;30833945;31092671;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32897882;32938616;32983136;33691108;33968037;33981976;34211107;34357683;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37880247;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Acts in concert with MON1A, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (PubMed:23084991)., [UniProtKB, PubMed]; Authors identified C18orf8/RMC1 as a new subunit of the CCZ1-MON1 RAB7 guanine exchange factor (GEF) that positively regulates RAB7 recruitment to LE/autophagosomes. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of CCZ1 as an essential lysosomal trafficking regulator in Marburg and Ebola virus infections. Publication Status: Online-Only, [RefSeq, PubMed]; The CCZ1 gene is a member of the class B VPS (vacuolar protein sorting) genes and it is engaged in the last stage of delivery of multiple kinds of cargo to the yeast vacuole., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RU45;O95766;Q9UG65;Q9Y359", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005765 lysosomal membrane;GO:0005770 late endosome;GO:0035658 Mon1-Ccz1 complex", "go_biological_process": "GO:0007034 vacuolar transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 25.3, "record_id": "P86791-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BU76-1", "uniprot_id": [ { "id": "MMTA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BU76", "type": "external" } ], "mass": 29412.0, "length": 263, "protein_name": "Multiple myeloma tumor-associated protein 2", "gene_name": "MMTAG2", "organism": "Human", "refseq_name": "multiple myeloma tumor-associated protein 2", "refseq_ac": [ { "id": "NP_077295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077295", "type": "external" } ], "gene_names_uniprotkb": "MMTAG2; C1orf35", "gene_names_refseq": "C1orf35; MMTAG2", "protein_names_uniprotkb": "Multiple myeloma tumor-associated protein 2; hMMTAG2", "protein_names_refseq": "multiple myeloma transforming 2; multiple myeloma tumor-associated protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79169); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "12545221;17081983;17322306;18452278;18669648;18691976;18767875;19007248;19415658;19651622;20068231;21406692;23186163;23301498;23650620;25576301;25755297;26992070;28510447;28834231;29557506;31217245;31530632;31611695;31844290;32103167;32350084;32983136;33968037;34019948;35132862;35251023;35580925;40307207;8692836", "class_list": "", "function": "C1orf35 contributes to tumorigenesis by activating c-MYC transcription in multiple myeloma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "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": "Q6P5Y0;Q6ZTZ6;Q6ZWA6;Q8IZH3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0034774 secretory granule lumen;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9BU76-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30622-3", "uniprot_id": [ { "id": "CLIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30622", "type": "external" } ], "mass": 162246.0, "length": 1438, "protein_name": "CAP-Gly domain-containing linker protein 1", "gene_name": "CLIP1", "organism": "Human", "refseq_name": "CAP-Gly domain-containing linker protein 1 isoform c", "refseq_ac": [ { "id": "NP_001234926", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001234926", "type": "external" } ], "gene_names_uniprotkb": "CLIP1; CYLN1; RSN", "gene_names_refseq": "CLIP-170; CLIP170; CLIP1; CLIP; CYLN1; RSN", "protein_names_uniprotkb": "CAP-Gly domain-containing linker protein 1; CLIP-170; Cytoplasmic linker protein 170 alpha-2; Cytoplasmic linker protein 1; Reed-Sternberg intermediate filament-associated protein; Restin", "protein_names_refseq": "CAP-Gly domain-containing linker protein 1 isoform c; cytoplasmic linker protein 170 alpha-2; cytoplasmic linker protein 1; cytoplasmic linker protein CLIP-170; restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)", "tax_id": 9606, "disease": "", "pathway": " (hsa:6249); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5626467); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025); (R-HSA-9842640)", "pathway_count": 10, "publication_count": 207, "publication_id_list": "10.1101/2023.09.13.557529;10411507;10473551;10600384;10678165;10958683;11081627;11181178;11371342;11509732;11535616;11804586;11948177;12006501;12110184;12194817;12231510;12429848;12433698;12577064;12679384;12732141;12805219;12852857;1356075;14730319;15006353;15085137;15339662;15507212;15723797;15737063;15864301;15866170;15944396;1600942;16292343;16439214;16541025;16622419;16622420;16682347;16890222;16943183;16959974;16964243;17030981;17081983;17112726;17113138;17129783;17196341;17198702;17244649;1737036;17563362;17828275;17828277;17889670;18001770;18097444;18237546;18669648;18716626;18923426;19079338;19350017;19687009;19690332;19696148;19737400;19815554;19965387;20030946;20068231;20101212;20519438;20591975;20664522;20679239;21111234;21148482;21299499;21397845;21576392;21646404;21730051;21749319;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;22944912;23186163;23222643;23345538;23481700;23801653;24275569;24366607;24451569;24715725;24777477;24914801;25576301;25645385;25740311;25789526;26154972;26992070;27600516;27862975;27920218;28228285;28510447;28657654;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29493099;29508533;29557506;29786170;30059200;30315122;30379171;30484775;30487641;30620550;30779550;30833945;31154438;31373491;31409757;31492838;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32491151;32502341;32574038;32897882;32938616;32938750;32983136;33298915;33392160;33592498;33968037;33981976;34019948;34087483;34171305;34260926;34357683;34405274;34509645;34672971;34725712;34819663;34932366;35008409;35051231;35132862;35154160;35251023;35254053;35318648;35513511;35580925;35705054;36010968;36215666;36240223;36241641;36284347;37340703;37365889;37541260;38253038;38665916;38705933;38838015;39302247;39531497;40307207;8756646;8798539;9199170;9368021;9649308;9649503;9694656;9892021", "class_list": "", "function": "Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth and microtubule bundling. Links cytoplasmic vesicles to microtubules and thereby plays an important role in intracellular vesicle trafficking. Plays a role macropinocytosis and endosome trafficking., [UniProtKB, PubMed, PubMed, PubMed]; CLIP-170S is a microtubule +TIP variant that confers resistance to taxanes by impairing drug-target engagement., [RefSeq, PubMed]; CLIP170 inhibits the metastasis and EMT of papillary thyroid cancer through the TGF-beta pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Restin protein expression in non-small cell lung cancer., [RefSeq, PubMed]; The CLIP1-LTK fusion is an oncogenic driver in non-small-cell lung cancer., [RefSeq, PubMed]; The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 25, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 61, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 25, "binding_glycan_count": 0, "secondary_ac_list": "A0AVD3;Q17RS4;Q29RG0", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0051010 microtubule plus-end binding;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0031116 positive regulation of microtubule polymerization;GO:0001578 microtubule bundle formation;GO:0031122 cytoplasmic microtubule organization", "synthesized_glycan_count": 0, "hit_score": 24.4, "record_id": "P30622-3", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZU80-2", "uniprot_id": [ { "id": "CE128_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZU80", "type": "external" } ], "mass": 128015.0, "length": 1094, "protein_name": "Centrosomal protein 128", "gene_name": "CEP128", "organism": "Human", "refseq_name": "centrosomal protein 128", "refseq_ac": [ { "id": "NP_689659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689659", "type": "external" } ], "gene_names_uniprotkb": "CEP128; C14orf145; C14orf61", "gene_names_refseq": "C14orf145; C14orf61; CEP128; LEDP/132", "protein_names_uniprotkb": "Centrosomal protein 128; Centrosomal protein of 128 kDa; Cep128", "protein_names_refseq": "centrosomal protein 128kDa; centrosomal protein 128; centrosomal protein of 128 kDa; lens epithelium-derived protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:145508)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "14654843;17525332;20966902;21399614;23186163;24275569;26992070;27543614;28832583;29493099;29514088;29557506;30393005;30484775;30623524;32157095;32387766;32488085;32502341;32983136;33141586;33592498;33968037;33981976;34087483;34509645;34561969;35051231;35296684;35391656;35580925;36215666;36241641;37249021", "class_list": "", "function": "CEP128 loss affects TGF-beta1-induced phosphorylation of multiple proteins that regulate cilium-associated vesicle trafficking., [RefSeq, PubMed]; Cep128 deletion decreased the stability of centriolar microtubules. Cep128 associates with Odf2., [RefSeq, PubMed]; Downregulation of Circ-CEP128 Enhances the Paclitaxel Sensitivity of Cervical Cancer Through Regulating miR-432-5p/MCL1., [RefSeq, PubMed]; Is involved in the negative regulation of ciliogenesis and plays a role in spermatogenesis (PubMed:29514088, PubMed:35296684). Contributes to the regulation of the TGFB/BMP signaling pathway at the primary cilium, where it is required for ciliary localization of RAB11A, likely affecting the trafficking and regulation of TGFB/BMP pathway components (PubMed:29514088). Required, together with ODF2, for the formation of the subdistal appendage of the centriole (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Modulation Effects of the CEP128 Gene on Radiotherapy-Related Brain Injury: A Longitudinal Structural Study Using Multi-Parametric Brain MR Images., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This study highlight the crucial role of CEP128 in the pathogenesis of Grave's disease., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9EK52;Q86X97;Q96ML4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005814 centriole;GO:0036064 ciliary basal body;GO:0120103 centriolar subdistal appendage", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:1902018 negative regulation of cilium assembly;GO:0008104 intracellular protein localization;GO:0044458 motile cilium assembly;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q6ZU80-2", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEP8-3", "uniprot_id": [ { "id": "CE192_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEP8", "type": "external" } ], "mass": 279111.0, "length": 2537, "protein_name": "Centrosomal protein of 192 kDa", "gene_name": "CEP192", "organism": "Human", "refseq_name": "centrosomal protein of 192 kDa", "refseq_ac": [ { "id": "NP_115518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115518", "type": "external" } ], "gene_names_uniprotkb": "CEP192; KIAA1569; PP8407", "gene_names_refseq": "CEP192; PPP1R62", "protein_names_uniprotkb": "Centrosomal protein of 192 kDa; Cep192/SPD-2; Cep192", "protein_names_refseq": "192 kDa centrosomal protein; centrosomal protein 192kDa; centrosomal protein of 192 kDa; cep192/SPD-2; protein phosphatase 1, regulatory subunit 62", "tax_id": 9606, "disease": "", "pathway": " (hsa:55125); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 143, "publication_id_list": "10.1101/2023.09.13.557529;11076968;11230166;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15498874;15705883;15862967;16357211;16462731;16565220;16890155;17574030;17646400;17719545;17980596;18037885;18207742;18378770;18477460;18521620;18566290;18615013;18669648;18694559;18801063;19004860;19081074;19413330;19940019;20068231;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;23932902;24053599;24089205;24231678;24469809;24982133;25042804;25047611;25313408;25418920;25505266;25532896;25576301;25645385;25892735;26012549;27862975;28832583;29242379;29348145;29493099;29557506;29786170;30315122;30379171;30779550;31092671;31154438;31217245;31844290;31848261;32060285;32157095;32161166;32357974;32387766;32433990;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33402344;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34357683;34509645;34561969;34932366;35051231;35318648;35494241;35561310;35580925;35849559;36010968;36238304;36241641;36284347;37938771;37981762;40136647;7769006;7790358;8838651", "class_list": "", "function": "CEP192 is a novel prognostic marker and correlates with the immune microenvironment in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192., [RefSeq, PubMed]; Required for mitotic centrosome maturation and bipolar spindle assembly (PubMed:17980596, PubMed:18207742, PubMed:25042804). Appears to be a major regulator of pericentriolar material (PCM) recruitment, centrosome maturation, and centriole duplication (PubMed:17980596, PubMed:18207742, PubMed:25042804). Centrosome-specific activating scaffold for AURKA and PLK1 (PubMed:25042804)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 57, "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": "A0A060A9S4;B7ZMF0;E9PF99;Q8WYT8;Q9H0F4;Q9NW27", "ec_number_list": [], "go_molecular_function": "GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:0090222 centrosome-templated microtubule nucleation;GO:0090307 mitotic spindle assembly;GO:0007098 centrosome cycle;GO:0071539 protein localization to centrosome;GO:0007099 centriole replication", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q8TEP8-3", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T655-1", "uniprot_id": [ { "id": "CFA58_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T655", "type": "external" } ], "mass": 103417.0, "length": 872, "protein_name": "Cilia- and flagella-associated protein 58", "gene_name": "CFAP58", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 58 isoform 1", "refseq_ac": [ { "id": "NP_001008723", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008723", "type": "external" } ], "gene_names_uniprotkb": "CFAP58; C10orf80; CCDC147", "gene_names_refseq": "C10orf80; CCDC147; CFAP58; SPGF49; bA127L20.4; bA127L20.5; bA554P13.1", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 58; Coiled-coil domain-containing protein 147", "protein_names_refseq": "cilia- and flagella-associated protein 58 isoform 1; coiled-coil domain containing 147; coiled-coil domain-containing protein 147", "tax_id": 9606, "disease": "oligoasthenoteratozoospermia (Disease Ontology:DOID:0070311); spermatogenic failure 49 (Disease Ontology:DOID:0112271)", "pathway": " (hsa:159686)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;24715725;25576301;26762739;27543614;29242379;29393594;29557506;30429286;32791035;32983136;33314088;33592498;35494241;35580925;36240223;39894887", "class_list": "", "function": "A heterozygous p.Arg696Cys variant in the coiled-coil domain containing 147 gene at 10q25.1 was associated with Lung Cancer., [RefSeq, PubMed]; Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice., [RefSeq, PubMed]; Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella., [RefSeq, PubMed]; Has an essential role in the assembly and organization of the sperm flagellar axoneme (PubMed:32791035). Required for the elongation of the primary cilium and sperm flagellar midpiece via modulation of the Notch signaling 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 29, "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": "D3DRA6;Q8NA27", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005813 centrosome;GO:0005856 cytoskeleton;GO:0036126 sperm flagellum;GO:0097228 sperm principal piece", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly;GO:0007288 sperm axoneme assembly;GO:0120229 protein localization to motile cilium", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q5T655-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6V702-2", "uniprot_id": [ { "id": "CF299_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6V702", "type": "external" } ], "mass": 26869.0, "length": 233, "protein_name": "Cilia- and flagella-associated protein 299", "gene_name": "CFAP299", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 299 isoform 1", "refseq_ac": [ { "id": "NP_001193926", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193926", "type": "external" } ], "gene_names_uniprotkb": "CFAP299; C4orf22", "gene_names_refseq": "C4orf22; CFAP299", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 299", "protein_names_refseq": "cilia- and flagella-associated protein 299 isoform 1; uncharacterized protein C4orf22", "tax_id": 9606, "disease": "", "pathway": " (hsa:255119)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "18519826;32938616;33968037;35051231", "class_list": "", "function": "Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; May be involved in spermatogenesis., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E7EQ13;Q6ZQY4;Q8N4G9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6V702-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D0Y5-1", "uniprot_id": [ { "id": "CG077_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D0Y5", "type": "external" } ], "mass": 10046.0, "length": 90, "protein_name": "Uncharacterized protein encoded by LINC03043", "gene_name": "LINC03043", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC03043; C7orf77", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein encoded by LINC03043; Long intergenic non-protein coding RNA 3043", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A4D0Y5-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4QMS7-1", "uniprot_id": [ { "id": "CFA90_HUMAN", "url": "https://www.uniprot.org/uniprot/A4QMS7", "type": "external" } ], "mass": 16991.0, "length": 147, "protein_name": "Cilia- and flagella-associated protein 90", "gene_name": "CFAP90", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 90", "refseq_ac": [ { "id": "NP_001083053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001083053", "type": "external" } ], "gene_names_uniprotkb": "CFAP90; C5orf49", "gene_names_refseq": "C5orf49; CFAP90", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 90", "protein_names_refseq": "cilia- and flagella-associated protein 90; uncharacterized protein C5orf49", "tax_id": 9606, "disease": "", "pathway": " (hsa:134121)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;36191189", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0036126 sperm flagellum;GO:0005930 axoneme;GO:0036064 ciliary basal body;GO:0160112 axonemal B tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A4QMS7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8K010-1", "uniprot_id": [ { "id": "CF176_HUMAN", "url": "https://www.uniprot.org/uniprot/A8K010", "type": "external" } ], "mass": 21118.0, "length": 186, "protein_name": "Putative transcriptional regulator encoded by LINC00473", "gene_name": "LINC00473", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00473; C6orf176", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative transcriptional regulator encoded by LINC00473", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "22108211", "class_list": "", "function": "May play a role in cAMP-mediated gene transcription., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A8K010-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MTB9-1", "uniprot_id": [ { "id": "CEA18_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MTB9", "type": "external" } ], "mass": 43320.0, "length": 384, "protein_name": "Cell adhesion molecule CEACAM18", "gene_name": "CEACAM18", "organism": "Human", "refseq_name": "cell adhesion molecule CEACAM18 precursor", "refseq_ac": [ { "id": "NP_001391990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001391990", "type": "external" } ], "gene_names_uniprotkb": "CEACAM18", "gene_names_refseq": "CEACAM18", "protein_names_uniprotkb": "Cell adhesion molecule CEACAM18; CEA cell adhesion molecule 18; Carcinoembryonic antigen-related cell adhesion molecule 18", "protein_names_refseq": "carcinoembryonic antigen related cell adhesion molecule 18; cell adhesion molecule CEACAM18 precursor; cell adhesion molecule CEACAM18", "tax_id": 9606, "disease": "", "pathway": " (hsa:729767)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;30379171;32488085", "class_list": "", "function": "", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "C9JN24", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A8MTB9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15335-1", "uniprot_id": [ { "id": "CHAD_HUMAN", "url": "https://www.uniprot.org/uniprot/O15335", "type": "external" } ], "mass": 40476.0, "length": 359, "protein_name": "Chondroadherin", "gene_name": "CHAD", "organism": "Human", "refseq_name": "chondroadherin precursor", "refseq_ac": [ { "id": "NP_001258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258", "type": "external" } ], "gene_names_uniprotkb": "CHAD; SLRR4A", "gene_names_refseq": "CHAD; SLRR4A", "protein_names_uniprotkb": "Chondroadherin; Cartilage leucine-rich protein", "protein_names_refseq": "cartilage leucine-rich protein; chondroadherin precursor; chondroadherin proteoglycan", "tax_id": 9606, "disease": "", "pathway": " (hsa:1101)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;11445564;19525844;23172228;27726376;28215822;29557506;34357683;35251023;9344663", "class_list": "", "function": "Changes in CHAD abundance or structure could be associated with the pathologic changes occurring in the scoliotic IVD., [RefSeq, PubMed]; Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes. The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin messenger RNA is present in chondrocytes at all ages. [provided by RefSeq, Jul 2008]., [RefSeq]; Crystal structures at ~2.2A resolution of human fibromodulin and chondroadherin., [RefSeq, PubMed]; Number of cells adhering via their beta(1) integrin receptor to collagen type II or chondroadherin was profoundly and rapidly enhanced by the addition of the heparin-binding peptide, [RefSeq, PubMed]; Promotes attachment of chondrocytes, fibroblasts, and osteoblasts. This binding is mediated (at least for chondrocytes and fibroblasts) by the integrin alpha(2)beta(1). May play an important role in the regulation of chondrocyte growth and proliferation (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K812;Q6GTU0;Q96RJ5", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0140150 gel phase of interstitial matrix", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "O15335-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43866-1", "uniprot_id": [ { "id": "CD5L_HUMAN", "url": "https://www.uniprot.org/uniprot/O43866", "type": "external" } ], "mass": 38088.0, "length": 347, "protein_name": "CD5 antigen-like", "gene_name": "CD5L", "organism": "Human", "refseq_name": "CD5 antigen-like isoform 2 precursor", "refseq_ac": [ { "id": "NP_001334627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334627", "type": "external" } ], "gene_names_uniprotkb": "CD5L; API6; PRO229", "gene_names_refseq": "AIM; API6; CD5L; CT-2; PRO229; SP-ALPHA; Spalpha; hAIM", "protein_names_uniprotkb": "CD5 antigen-like; Apoptosis inhibitor expressed by macrophages; CT-2; IgM-associated peptide; SP-alpha; hAIM", "protein_names_refseq": "CD5 antigen-like (scavenger receptor cysteine rich family); CD5 antigen-like isoform 2 precursor; apoptosis inhibitor 6; apoptosis inhibitor expressed by macrophages; apoptosis inhibitor of macrophage; igM-associated peptide", "tax_id": 9606, "disease": "", "pathway": " (hsa:922); (R-HSA-3000471)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10103054;10734051;10772654;10938017;11861652;11981870;11988484;12105195;12138091;12651854;12947091;12975309;14726519;15340161;15576377;15690042;15866482;16030018;16276419;16368683;16488891;17101731;17710648;17876058;18458151;18558917;19237602;19740737;23236605;24223991;24295828;24583716;24804991;25713983;26154972;26726878;27790215;29557506;30459171;33141586;34525359;35580925;36427004;37087580;37191481;37592330;38006711;7536797;7685021;7688729;8034987;9045627;9148942;9211901;9254056;9409200;9834113", "class_list": "", "function": "AIM/CD5L ameliorates autoimmune arthritis by promoting removal of inflammatory DAMPs at the lesions., [RefSeq, PubMed]; Apoptosis inhibitor of macrophage (AIM)/CD5L is involved in the pathogenesis of COPD. Publication Status: Online-Only, [RefSeq, PubMed]; CD5L aggravates rheumatoid arthritis progression via promoting synovial fibroblasts proliferation and activity., [RefSeq, PubMed]; Secreted protein that acts as a key regulator of lipid synthesis: mainly expressed by macrophages in lymphoid and inflamed tissues and regulates mechanisms in inflammatory responses, such as infection or atherosclerosis. Able to inhibit lipid droplet size in adipocytes. Following incorporation into mature adipocytes via CD36-mediated endocytosis, associates with cytosolic FASN, inhibiting fatty acid synthase activity and leading to lipolysis, the degradation of triacylglycerols into glycerol and free fatty acids (FFA). CD5L-induced lipolysis occurs with progression of obesity: participates in obesity-associated inflammation following recruitment of inflammatory macrophages into adipose tissues, a cause of insulin resistance and obesity-related metabolic disease. Regulation of intracellular lipids mediated by CD5L has a direct effect on transcription regulation mediated by nuclear receptors ROR-gamma (RORC). Acts as a key regulator of metabolic switch in T-helper Th17 cells. Regulates the expression of pro-inflammatory genes in Th17 cells by altering the lipid content and limiting synthesis of cholesterol ligand of RORC, the master transcription factor of Th17-cell differentiation. CD5L is mainly present in non-pathogenic Th17 cells, where it decreases the content of polyunsaturated fatty acyls (PUFA), affecting two metabolic proteins MSMO1 and CYP51A1, which synthesize ligands of RORC, limiting RORC activity and expression of pro-inflammatory genes. Participates in obesity-associated autoimmunity via its association with IgM, interfering with the binding of IgM to Fcalpha/mu receptor and enhancing the development of long-lived plasma cells that produce high-affinity IgG autoantibodies (By similarity). Also acts as an inhibitor of apoptosis in macrophages: promotes macrophage survival from the apoptotic effects of oxidized lipids in case of atherosclerosis (PubMed:24295828). Involved in early response to microbial infection against various pathogens by acting as a pattern recognition receptor and by promoting autophagy (PubMed:16030018, PubMed:24223991, PubMed:24583716, PubMed:25713983). Promotes recovery from acute kidney injury (AKI) by accumulating on necrotic cell debris within the kidney proximal tubules following AKI and interacting with HAVCR1 expressed on the surface of injured kidney tubular epithelial cells (PubMed:26726878). This enhances HAVCR1-mediated phagocytosis of intraluminal necrotic debris and contributes to kidney tissue repair (PubMed:26726878). Also enhances necrotic debris uptake by kidney macrophages in a HAVCR1-independent manner (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The comprehensive role of apoptosis inhibitor of macrophage (AIM) in pathological conditions. Review article, [RefSeq, PubMed]; [CD5L is elevated in the serum of patients with candidemia and promotes disease progression in mouse models]., [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": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "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": "A8K7M5;Q6UX63", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0006954 inflammatory response;GO:0006915 apoptotic process;GO:0006968 cellular defense response;GO:0002376 immune system process;GO:0030449 regulation of complement activation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "O43866-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43916-1", "uniprot_id": [ { "id": "CHST1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43916", "type": "external" } ], "mass": 46715.0, "length": 411, "protein_name": "Carbohydrate sulfotransferase 1", "gene_name": "CHST1", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 1", "refseq_ac": [ { "id": "NP_003645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645", "type": "external" } ], "gene_names_uniprotkb": "CHST1", "gene_names_refseq": "C6ST; CHST1; GST-1; KS6ST; KSGal6ST; KSST", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 1; 2.8.2.21; GST-1; Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 1; KS6ST; KSGal6ST; KSST; Keratan sulfate Gal-6 sulfotransferase", "protein_names_refseq": "Keratan sulfotransferase; carbohydrate (chondroitin 6/keratan) sulfotransferase 1; carbohydrate (keratan sulfate Gal-6) sulfotransferase 1; carbohydrate sulfotransferase 1; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8534); (R-HSA-2022854)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10.1101/2023.09.13.557529;10049591;10206952;10330415;10491328;10504389;10642612;11030741;11042166;11042394;11283017;11310842;11588157;11821425;11901181;12218059;15486459;15560372;15620693;17021253;1714903;17690104;18698629;19664994;20230923;21880669;22260995;29557506;32938616;35051231;37938771;38034954;8333853;8611500;8920913;9405439;9417100;9597550;9639683", "class_list": "glycogene", "function": "A new point mutation in C6ST-1 is associated with spondyloepiphyseal dysplasia, Omani type., [RefSeq, PubMed]; Epitope expressing changes with suppression or over-expression of the Gal6ST (Gal 6-O-sulfotransferase) gene, suggesting that Gal6ST is involved in the biosynthesis of the unique epitopes of KL-6/mAb., [RefSeq, PubMed]; Found endogenous expression of the long form of the enzyme in human tissue, predominantly in the trans-Golgi network of endothelial cells that form human high endothelial venules., [RefSeq, PubMed]; Sulfated keratan sulfate is produced by beta3GNT7, beta4GalT4, CGn6ST, and KSG6ST, [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of internal galactose (Gal) residues of keratan. Cooperates with B4GALT4 and B3GNT7 glycosyltransferases and CHST6 sulfotransferase to construct and elongate disulfated disaccharide unit [->3(6-sulfoGalbeta)1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer (PubMed:10642612, PubMed:17690104, PubMed:9405439). Has a preference for sulfating keratan sulfate, but it also transfers sulfate to the unsulfated polymer (PubMed:9405439). Involved in biosynthesis of phosphacan, a major keratan sulfate proteoglycan in the developing brain (By similarity). Involved in biosynthesis of 6-sulfoGalbeta-containing O-linked glycans in high endothelial venules of lymph nodes. May act in a synergistic manner with CHST4 to generate sialyl 6',6-disulfo Lewis X motif, a recognition determinant for immune cell receptors implicated in leukocyte trafficking (PubMed:10330415). Catalyzes sulfation of N-acetyllactosamine (LacNAc) oligosaccharides with highest efficiency for sialylated LacNAc structures (PubMed:10642612)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 513, "reported_interactions": 0, "missing_score": 9753, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DQP2", "ec_number_list": [ { "id": "2.8.2.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.21", "type": "external" } ], "go_molecular_function": "GO:0001517 N-acetylglucosamine 6-O-sulfotransferase activity;GO:0008146 sulfotransferase activity;GO:0045130 keratan sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:0006954 inflammatory response;GO:0006790 sulfur compound metabolic process;GO:0018146 keratan sulfate proteoglycan biosynthetic process;GO:0005976 polysaccharide metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "O43916-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95992-1", "uniprot_id": [ { "id": "CH25H_HUMAN", "url": "https://www.uniprot.org/uniprot/O95992", "type": "external" } ], "mass": 31745.0, "length": 272, "protein_name": "Cholesterol 25-hydroxylase", "gene_name": "CH25H", "organism": "Human", "refseq_name": "cholesterol 25-hydroxylase", "refseq_ac": [ { "id": "NP_003947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947", "type": "external" } ], "gene_names_uniprotkb": "CH25H", "gene_names_refseq": "C25H; CH25H", "protein_names_uniprotkb": "Cholesterol 25-hydroxylase; 1.14.99.38; Cholesterol 25-monooxygenase; h25OH", "protein_names_refseq": "cholesterol 25-hydroxylase; cholesterol 25-monooxygenase; h25OH", "tax_id": 9606, "disease": "", "pathway": " (hsa:9023); (R-HSA-192105)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11802775;15465627;16157450;16385451;17428193;23428468;23830809;24209621;24742681;26715851;31844290;32944968;33239446;37720208;37831916;38331303;38816950;39428922;9852097", "class_list": "", "function": "Based on the results of genome-wide screens, along with biological studies, we selected three genes as candidates for AD risk factors: ATP-binding cassette transporter A1 (ABCA1), cholesterol 25-hydroxylase (CH25H) and cholesterol 24-hydroxylase (CH24H). GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; CH25H Promotes Autophagy and Regulates the Malignant Progression of Laryngeal Squamous Cell Carcinoma Through the PI3K-AKT Pathway., [RefSeq, PubMed]; Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes (PubMed:9852097). Plays a key role in cell positioning and movement in lymphoid tissues: 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells (By similarity). May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element binding protein (SREBP) processing (PubMed:9852097). As an interferon-stimulated gene, has broad antiviral activities against a wide range of enveloped viruses, such as vesicular stomatitis virus (VSV) and SARS coronavirus-2 (SARS-CoV-2). Its product, 25-hydroxycholesterol, activates the ER-localized enzyme ACAT to induce internalization of accessible cholesterol on the plasma membrane and restricts SARS-CoV-2 S protein-mediated fusion which inhibits virus replication (PubMed:32944968, PubMed:33239446). In testis, production of 25-hydroxycholesterol by macrophages plays a role in Leydig cell differentiation (By similarity). Required to restrain inflammation in macrophages: production of 25-hydroxycholesterol protects macrophages from cholesterol overload, thereby preventing mitochondrial DNA release and subsequent activation of the AIM2 inflammasome (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Cholesterol 25-Hydroxylase Protects Against Diabetic Kidney Disease by Regulating ADP Ribosylation Factor 4., [RefSeq, PubMed]; Expression Pattern of Cholesterol 25-Hydroxylase and Serum Level of 25-Hydroxycholesterol and Relevant Inflammatory Cytokines in Patients with Varying Disease Severity of COVID-19., [RefSeq, PubMed]; Hypoxia-induced ALKBH5 aggravates synovial aggression and inflammation in rheumatoid arthritis by regulating the m6A modification of CH25H., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Research progress on the mechanism of cholesterol-25-hydroxylase in intestinal immunity. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "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": "B2RBY3", "ec_number_list": [ { "id": "1.14.99.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.38", "type": "external" } ], "go_molecular_function": "GO:0000254 C-4 methylsterol oxidase activity;GO:0005506 iron ion binding;GO:0008395 steroid hydroxylase activity;GO:0001567 cholesterol 25-hydroxylase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0008203 cholesterol metabolic process;GO:0016126 sterol biosynthetic process;GO:0035754 B cell chemotaxis;GO:0034340 response to type I interferon", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "O95992-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08217-1", "uniprot_id": [ { "id": "CEL2A_HUMAN", "url": "https://www.uniprot.org/uniprot/P08217", "type": "external" } ], "mass": 28888.0, "length": 269, "protein_name": "Chymotrypsin-like elastase family member 2A", "gene_name": "CELA2A", "organism": "Human", "refseq_name": "chymotrypsin-like elastase family member 2A preproprotein", "refseq_ac": [ { "id": "NP_254275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_254275", "type": "external" } ], "gene_names_uniprotkb": "CELA2A; ELA2A", "gene_names_refseq": "AOMS4; CELA2A; ELA2A; PE-1", "protein_names_uniprotkb": "Chymotrypsin-like elastase family member 2A; 3.4.21.71; Elastase-2A", "protein_names_refseq": "chymotrypsin like elastase family member 2A; chymotrypsin-like elastase family member 2A preproprotein; elastase 2A; pancreatic elastase 2; pancreatic elastase IIA", "tax_id": 9606, "disease": "abdominal obesity-metabolic syndrome 4 (Disease Ontology:DOID:0080945)", "pathway": " (hsa:63036); (R-HSA-6809371); (R-HSA-9925561)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10620133;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20628086;20657595;20667819;20940292;21439340;21654840;21997417;2307232;23629652;25926655;26390218;27358403;2834346;29437277;29557506;31358993;33674762;3427074;36215666;3646943;37217939;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "CELA2A mutations resulting in high serum level is associated with early-onset atherosclerosis and metabolic syndrome., [RefSeq, PubMed]; Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2., [RefSeq, PubMed]; Elastase that enhances insulin signaling and might have a physiologic role in cellular glucose metabolism. Circulates in plasma and reduces platelet hyperactivation, triggers both insulin secretion and degradation, and increases insulin sensitivity., [UniProtKB, PubMed]; Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, May 2009]., [RefSeq]; Epithelial production of elastase is increased in inflammatory bowel disease and causes mucosal inflammation., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (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": 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": "B2R5I4;Q14243", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.1", "type": "external" }, { "id": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" }, { "id": "3.4.22.52", "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": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.21.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.71", "type": "external" }, { "id": "3.4.21.70", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.70", "type": "external" }, { "id": "3.4.17.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.1", "type": "external" }, { "id": "3.4.17.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.2", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.4.17.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.15", "type": "external" }, { "id": "3.1.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.26", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "2.1.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.20", "type": "external" }, { "id": "3.4.21.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.2", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0017171 serine hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0036457 keratohyalin granule", "go_biological_process": "GO:0006508 proteolysis;GO:0050796 regulation of insulin secretion;GO:0032868 response to insulin;GO:1901143 insulin catabolic process;GO:0090330 regulation of platelet aggregation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "P08217-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMB2-1", "uniprot_id": [ { "id": "CH088_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMB2", "type": "external" } ], "mass": 13372.0, "length": 117, "protein_name": "Uncharacterized protein C8orf88", "gene_name": "C8orf88", "organism": "Human", "refseq_name": "uncharacterized protein C8orf88", "refseq_ac": [ { "id": "NP_001177901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177901", "type": "external" } ], "gene_names_uniprotkb": "C8orf88", "gene_names_refseq": "C8orf88", "protein_names_uniprotkb": "Uncharacterized protein C8orf88", "protein_names_refseq": "uncharacterized protein C8orf88", "tax_id": 9606, "disease": "", "pathway": " (hsa:100127983)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "16368877;26992070;30379171;31844290;32387766;33298915;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008190 eukaryotic initiation factor 4E binding;GO:0030371 translation repressor activity", "go_cellular_component": "", "go_biological_process": "GO:0045947 negative regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P0DMB2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15391-1", "uniprot_id": [ { "id": "CD19_HUMAN", "url": "https://www.uniprot.org/uniprot/P15391", "type": "external" } ], "mass": 61128.0, "length": 556, "protein_name": "B-lymphocyte antigen CD19", "gene_name": "CD19", "organism": "Human", "refseq_name": "B-lymphocyte antigen CD19 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001171569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171569", "type": "external" } ], "gene_names_uniprotkb": "CD19", "gene_names_refseq": "B4; CD19; CVID3", "protein_names_uniprotkb": "B-lymphocyte antigen CD19; B-lymphocyte surface antigen B4; Differentiation antigen CD19; T-cell surface antigen Leu-12", "protein_names_refseq": "B-lymphocyte antigen CD19 isoform 1 precursor; B-lymphocyte surface antigen B4; T-cell surface antigen Leu-12; differentiation antigen CD19", "tax_id": 9606, "disease": "common variable immunodeficiency 3 (Disease Ontology:DOID:0081146)", "pathway": " (hsa:930); (R-HSA-1257604); (R-HSA-198933); (R-HSA-2219530); (R-HSA-6811558); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 7, "publication_count": 317, "publication_id_list": "10051622;10191262;10201980;10432293;10498607;10499918;10531307;10556826;10648173;1067618;10706702;10746781;10770799;1081164;10880360;10933394;10983984;11042164;11071869;11120811;11147812;11226282;11265639;11449366;11489943;11513152;11556966;11606584;11694537;11803464;11807247;11857637;11858820;11861603;11901194;11909947;11939578;11955593;11955595;11955599;12055245;12167717;12181444;12213321;12215898;12387743;12453414;12456653;12483297;12573241;12588680;12767043;1325671;1370948;1372019;1373518;1374290;1375264;1375324;1376928;1383329;1386357;14719373;14970179;15034010;15136729;15155468;15161916;15187135;15187158;15304001;1550550;15509800;15534202;15541655;15580655;15607800;15718470;15778510;15781451;15800062;15834429;15851719;15864273;1599430;16014749;16079145;16091383;16129954;16192651;16339315;16339513;16380601;16449649;16456541;16497976;16551255;16647110;16672701;16737824;16754721;16849466;16893496;16904340;16906149;16928187;16999828;1702139;1702903;17045824;1705565;17057721;17182573;17200115;17224452;17237375;17337780;17452328;17486119;17505110;17525332;17626883;18006696;18025150;18031695;18037897;18052078;18055229;18079394;18187424;18209062;18234675;18317450;18326500;18420269;18593354;18594509;18596693;18606717;18754654;18755892;18818202;18829560;18843204;18925875;18995841;19149696;19185485;19206206;19249086;19359216;19372136;19411071;19576174;19592130;19644473;19805105;19962665;2011584;20192804;20231295;20338997;20522708;20713702;20730098;21188471;21241660;21317208;21368164;21408196;21469132;21478295;21654843;21668414;21788512;21800138;21822214;21827948;21841309;21877119;21976531;21984976;22120714;22180443;22188813;22210847;22396535;22588880;22802338;22802530;2303036;2304550;23481700;23487775;23695528;23929856;24190977;2420889;24305946;2459292;2463100;2465906;2466593;24714562;24715725;2472450;2481448;25502872;25548167;25703557;25716998;25880248;25892735;26284469;26300885;26375851;26728094;27846572;27920218;28218747;28228285;28467828;28904123;29242379;29317506;293688;293746;29437277;29490423;29508533;29523808;29557506;2956252;29632711;2971659;29769354;301546;30569825;31217245;31844290;32350084;32502341;33912179;34357683;34433824;34932366;3500860;35051231;35154160;35494241;36581221;37407840;37497999;37870681;38095318;38376944;3848661;4098172;4589993;6214588;6219696;6222381;6230668;6238120;6334079;6335036;6454142;6607952;670886;6906228;702059;7391570;7524079;7528218;7531291;7538118;7542404;7542572;7592958;760802;761607;7637810;7684160;7687428;7687539;7688784;7690834;7691807;7691959;7744773;7927516;803528;8163536;8178173;8306975;8345200;8495193;8645157;8657148;8786315;8947047;8995416;9038722;9235916;9285412;9314561;9317126;9326643;9341187;9382888;9697839;9700512;9705962;9730896;9736715;978134;9895304", "class_list": "", "function": "Evaluation of transcription factors and cytokine expressions of T-cell subsets in CD19 deficiency and their possible relationship with autoimmune disease., [RefSeq, PubMed]; Functions as a coreceptor for the B-cell antigen receptor complex (BCR) on B-lymphocytes (PubMed:29523808). Decreases the threshold for activation of downstream signaling pathways and for triggering B-cell responses to antigens (PubMed:1373518, PubMed:16672701, PubMed:2463100). Activates signaling pathways that lead to the activation of phosphatidylinositol 3-kinase and the mobilization of intracellular Ca(2+) stores (PubMed:12387743, PubMed:16672701, PubMed:9317126, PubMed:9382888). Is not required for early steps during B cell differentiation in the blood marrow (PubMed:9317126). Required for normal differentiation of B-1 cells (By similarity). Required for normal B cell differentiation and proliferation in response to antigen challenges (PubMed:1373518, PubMed:2463100). Required for normal levels of serum immunoglobulins, and for production of high-affinity antibodies in response to antigen challenge (PubMed:12387743, PubMed:16672701, PubMed:9317126)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Immunotherapy-resistant acute lymphoblastic leukemia cells exhibit reduced CD19 and CD22 expression and BTK pathway dependency. Publication Status: Online-Only, [RefSeq, PubMed]; Novel chimeric antigen receptor targets and constructs for acute lymphoblastic leukemia: Moving beyond CD19. Review article, [RefSeq, PubMed]; This gene encodes a member of the immunoglobulin gene superfamily. Expression of this cell surface protein is restricted to B cell lymphocytes. This protein is a reliable marker for pre-B cells but its expression diminishes during terminal B cell differentiation in antibody secreting plasma cells. The protein has two N-terminal extracellular Ig-like domains separated by a non-Ig-like domain, a hydrophobic transmembrane domain, and a large C-terminal cytoplasmic domain. This protein forms a complex with several membrane proteins including complement receptor type 2 (CD21) and tetraspanin (CD81) and this complex reduces the threshold for antigen-initiated B cell activation. Activation of this B-cell antigen receptor complex activates the phosphatidylinositol 3-kinase signalling pathway and the subsequent release of intracellular stores of calcium ions. This protein is a target of chimeric antigen receptor (CAR) T-cells used in the treatment of lymphoblastic leukemia. Mutations in this gene are associated with the disease common variable immunodeficiency 3 (CVID3) which results in a failure of B-cell differentiation and impaired secretion of immunoglobulins. CVID3 is characterized by hypogammaglobulinemia, an inability to mount an antibody response to antigen, and recurrent bacterial infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]., [RefSeq]; Transcriptional signatures associated with persisting CD19 CAR-T cells in children with leukemia., [RefSeq, PubMed]; Tumor-derived exosomes induce initial activation by exosomal CD19 antigen but impair the function of CD19-specific CAR T-cells via TGF-beta signaling., [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 19, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0N0P9;F5H635;Q96S68;Q9BRD6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0002322 B cell proliferation involved in immune response;GO:0050853 B cell receptor signaling pathway;GO:0051281 positive regulation of release of sequestered calcium ion into cytosol;GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 32.1, "record_id": "P15391-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15812-1", "uniprot_id": [ { "id": "CD1E_HUMAN", "url": "https://www.uniprot.org/uniprot/P15812", "type": "external" } ], "mass": 43626.0, "length": 388, "protein_name": "T-cell surface glycoprotein CD1e, membrane-associated", "gene_name": "CD1E", "organism": "Human", "refseq_name": "T-cell surface glycoprotein CD1e, membrane-associated isoform b precursor", "refseq_ac": [ { "id": "NP_001036048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036048", "type": "external" } ], "gene_names_uniprotkb": "CD1E", "gene_names_refseq": "CD1E; R2", "protein_names_uniprotkb": "T-cell surface glycoprotein CD1e, membrane-associated; R2G1; hCD1e", "protein_names_refseq": "CD1E antigen, e polypeptide; R2G1; T-cell surface glycoprotein CD1e, membrane-associated isoform b precursor; T-cell surface glycoprotein CD1e, membrane-associated; hCD1e; leukocyte differentiation antigen; thymocyte antigen CD1E", "tax_id": 9606, "disease": "", "pathway": " (hsa:913)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10488738;10948205;11019917;11237011;12144626;16311334;18208508;18325888;19196239;21788486;2467814;29301656;3097645;32467040;33043033;35580925", "class_list": "", "function": "CD1 gene polymorphism and susceptibility to celiac disease: Association of CD1E*02/02 in Moroccans., [RefSeq, PubMed]; CD1e propeptide is conserved during evolution, suggesting that it may also optimize the generation of CD1e molecules in other species., [RefSeq, PubMed]; Single nucleotide polymorphisms in exon 2 of CD1A (*01/*02) and CD1E (*01/*02) cannot be recognized as a susceptibility or disease-causative factor for Guillain-Barre syndrome in the Bangladeshi population, [RefSeq, PubMed]; T-cell surface glycoprotein CD1e, soluble binds diacetylated lipids, including phosphatidyl inositides and diacylated sulfoglycolipids, and is required for the presentation of glycolipid antigens on the cell surface. The membrane-associated form is not active., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Many alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "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": "B4DZV3;E7EP01;Q5TDJ9;Q5TDK3;Q5TDK4;Q5TDK5;Q5TDK6;Q5TDK8;Q5TDL1;Q712E4;Q712E5;Q712E6;Q712E7;Q712E8;Q712E9;Q712F0;Q712F1;Q712F2;Q712F3;Q712F4;Q712F5;Q96TD0;Q96TD1;Q9UMM1;Q9Y5M3", "ec_number_list": [], "go_molecular_function": "GO:0030883 endogenous lipid antigen binding;GO:0030884 exogenous lipid antigen binding;GO:0071723 lipopeptide binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:0048007 antigen processing and presentation, exogenous lipid antigen via MHC class Ib;GO:0048006 antigen processing and presentation, endogenous lipid antigen via MHC class Ib", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P15812-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32246-1", "uniprot_id": [ { "id": "CCR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P32246", "type": "external" } ], "mass": 41173.0, "length": 355, "protein_name": "C-C chemokine receptor type 1", "gene_name": "CCR1", "organism": "Human", "refseq_name": "C-C chemokine receptor type 1", "refseq_ac": [ { "id": "NP_001286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001286", "type": "external" } ], "gene_names_uniprotkb": "CCR1; CMKBR1; CMKR1; SCYAR1", "gene_names_refseq": "CCR1; CD191; CKR-1; CKR1; CMKBR1; HM145; MIP1aR; SCYAR1", "protein_names_uniprotkb": "C-C chemokine receptor type 1; C-C CKR-1; CC-CKR-1; CCR-1; CCR1; HM145; LD78 receptor; MIP-1alpha-R; Macrophage inflammatory protein 1-alpha receptor; RANTES-R", "protein_names_refseq": "C-C CKR-1; C-C chemokine receptor type 1; CC-CKR-1; CCR-1; LD78 receptor; MIP-1alpha-R; RANTES receptor; RANTES-R; chemokine (C-C motif) receptor 1; macrophage inflammatory protein 1-alpha receptor", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); Coronavirus infectious disease (Disease Ontology:DOID:0080599); Alzheimer's disease (Disease Ontology:DOID:10652); Lewy body dementia (Disease Ontology:DOID:12217); anterior uveitis (Disease Ontology:DOID:1407); allergic contact dermatitis (Disease Ontology:DOID:3042); coronary artery disease (Disease Ontology:DOID:3393); liver cirrhosis (Disease Ontology:DOID:5082); rheumatoid arthritis (Disease Ontology:DOID:7148); cerebral amyloid angiopathy (Disease Ontology:DOID:9246)", "pathway": " (hsa:1230); (R-HSA-380108); (R-HSA-418594); (R-HSA-6783783)", "pathway_count": 4, "publication_count": 121, "publication_id_list": "10092818;10229797;10415057;10433356;10640743;10706668;10725696;10725697;10781587;11007482;11060282;12120503;12149255;12554737;12554859;12626585;12832402;12884299;1460289;14991608;15001559;15067078;15905581;15919823;15951850;16107333;16634148;16923326;16982608;1744577;1840701;18434541;18577758;18578522;18587271;1891716;1940369;1940799;20002784;20145033;2078213;2217207;2423119;24743777;2534964;2748346;2834384;2970963;29930254;3098319;31844290;32387766;32488085;3260265;32983136;33091337;34949837;35580925;35809272;36317881;37903056;38274805;38417634;7505609;7510216;7512027;7512451;7516408;7543512;7593617;7594602;7602097;7622448;7642634;7679328;7683036;7684412;7687627;7851893;7875320;7902377;7937899;8015379;8048929;8063757;8102388;8120391;8163946;8186324;8301137;8383238;8406495;8537680;8639485;8662928;8734788;8742066;8849694;8871669;8897595;8910398;8921438;8946277;9013939;9024663;9164944;9166430;9169459;9207005;9276730;9287217;9312047;9354687;9390561;9449724;9463416;9550426;9618518;9794440;9836587;9918218", "class_list": "", "function": "Activation of the Chemokine Receptor CCR1 and Preferential Recruitment of Galphai Suppress RSV Replication: Implications for Developing Novel Respiratory Syncytial Virus Treatment Strategies., [RefSeq, PubMed]; CCR1 mediates Muller cell activation and photoreceptor cell death in macular and retinal degeneration. Publication Status: Online-Only, [RefSeq, PubMed]; Characterizing ligand-receptor interactions and unveiling the pro-tumorigenic role of CCL16-CCR1 axis in the microenvironment of hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Chemokine receptor that plays a crucial role in regulating immune cell migration, inflammation, and immune responses (PubMed:14991608). Contributes to the inflammatory response by recruiting immune cells, such as monocytes, macrophages, T-cells, and dendritic cells, to sites of inflammation for the clearance of pathogens and the resolution of tissue damage. When activated by its ligands including CCL3, CCL5-9, CCL13-16 and CCL23, triggers a signaling cascade within immune cells, leading to their migration towards the source of the chemokine (PubMed:15905581, PubMed:38417634). For example, mediates neutrophil migration after activation by CCL3 leading to the sequential release of TNF and leukotriene B4 (By similarity). Also mediates monocyte migration upon CXCL4 binding (PubMed:29930254). Activation by CCL5 results in neuroinflammation through the ERK1/2 signaling pathway (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The rs13075270 and rs13092160 polymorphisms of CCR1 and CCR3 genes on oral aphthous-like lesions in PFAPA syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86VA9", "ec_number_list": [], "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0004950 chemokine receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0019957 C-C chemokine binding;GO:0071791 chemokine (C-C motif) ligand 5 binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007155 cell adhesion;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "P32246-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13319-1", "uniprot_id": [ { "id": "CD5R2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13319", "type": "external" } ], "mass": 38705.0, "length": 367, "protein_name": "Cyclin-dependent kinase 5 activator 2", "gene_name": "CDK5R2", "organism": "Human", "refseq_name": "cyclin-dependent kinase 5 activator 2", "refseq_ac": [ { "id": "NP_003927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003927", "type": "external" } ], "gene_names_uniprotkb": "CDK5R2; NCK5AI", "gene_names_refseq": "CDK5R2; NCK5AI; P39; p39nck5ai", "protein_names_uniprotkb": "Cyclin-dependent kinase 5 activator 2; CDK5 activator 2; Cyclin-dependent kinase 5 regulatory subunit 2; p39I; p39", "protein_names_refseq": "CDK5 activator 2; cyclin-dependent kinase 5 activator 2; p39I", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); neurodegenerative disease (Disease Ontology:DOID:1289); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:8941); (R-HSA-9031628)", "pathway_count": 2, "publication_count": 134, "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;18507738;18524893;1861162;19061646;19116276;19193899;19194657;19926875;2017159;2040600;20506119;2052361;2072895;21057636;2109185;21326363;21486943;21621608;22053691;22065583;22302795;2237820;22467861;24060757;24085300;25128817;25248477;25569790;25748042;26018600;2676516;27041596;27128622;27220739;28076410;28275114;28286024;29557506;29559111;30379171;30452490;3127059;35051231;3672127;39256547;7551568;7592934;7595538;7608156;7624335;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", "class_list": "", "function": "A biomarker consisting of the phosphorylation of the retinoblastoma protein (Rb) on serine 249 combined with elevated p39 expression. This biomarker correlates with epithelial-to-mesenchymal transition traits in non-small cell lung carcinoma (NSCLC) cells. Publication Status: Online-Only, [RefSeq, PubMed]; Activator of CDK5/TPKII., [UniProtKB]; P39 is essential for recruiting scaffolding protein muskelin to stress fibers., [RefSeq, PubMed]; S-Nitrosylation of p39 promotes its degradation and contributes to synaptic dysfunction induced by beta-amyloid peptide. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis for the different stability and activity between the Cdk5 complexes with p35 and p39 activators., [RefSeq, PubMed]; The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family of cyclin-dependent kinase activating proteins. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 1, "reported_glycation": 0, "reported_snv": 2, "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": "Q4ZFW6", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0019901 protein kinase binding;GO:0008289 lipid binding;GO:0061575 cyclin-dependent protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030426 growth cone;GO:0043005 neuron projection", "go_biological_process": "GO:0007420 brain development;GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity;GO:0051493 regulation of cytoskeleton organization;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "Q13319-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15744-1", "uniprot_id": [ { "id": "CEBPE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15744", "type": "external" } ], "mass": 30603.0, "length": 281, "protein_name": "CCAAT/enhancer-binding protein epsilon", "gene_name": "CEBPE", "organism": "Human", "refseq_name": "CCAAT/enhancer-binding protein epsilon", "refseq_ac": [ { "id": "NP_001796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001796", "type": "external" } ], "gene_names_uniprotkb": "CEBPE", "gene_names_refseq": "C/EBP-epsilon; CEBPE; CRP1; IMD108; SGD1; c/EBP epsilon", "protein_names_uniprotkb": "CCAAT/enhancer-binding protein epsilon; C/EBP epsilon", "protein_names_refseq": "CCAAT/enhancer binding protein (C/EBP), epsilon; CCAAT/enhancer-binding protein epsilon", "tax_id": 9606, "disease": "immunodeficiency 108 (Disease Ontology:DOID:0061077); specific granule deficiency 1 (MONDO:MONDO:0044207)", "pathway": " (hsa:1053); (R-HSA-9616222)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10233885;10330422;10359588;11242107;11313242;11340171;11369759;11564866;11684017;11867521;12242300;12702500;12869508;14517214;16751774;17063141;17244686;17562868;18776924;20661648;21471526;21993314;22371011;22474248;23001182;24379003;24584857;2524830;25784653;26019275;2721961;28369036;29431622;29557506;29651288;30379171;31154438;31201888;31912614;32391290;32574725;32897882;33397280;35051231;36897378;37217939;37578068;7862113;8661101;8695841;8846917;9032264;9177240", "class_list": "", "function": "ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia., [RefSeq, PubMed]; Identification and genomic analysis of pedigrees with exceptional longevity identifies candidate rare variants., [RefSeq, PubMed]; Loss of myeloid-specific lamin A/C drives lung metastasis through Gfi-1 and C/EBPepsilon-mediated granulocytic differentiation., [RefSeq, PubMed]; Significance of CEBPE Gene Promoter Polymorphism (Rs2239630 G > A) Assessment in Childhood B-cell Acute Lymphoblastic Leukemia., [RefSeq, PubMed]; The CEBPE rs2239633 genetic polymorphism on susceptibility to childhood acute lymphoblastic leukemia: an updated meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional activator (PubMed:26019275). C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Required for the promyelocyte-myelocyte transition in myeloid differentiation (PubMed:10359588)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q15745;Q8IYI2;Q99803", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0030851 granulocyte differentiation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006952 defense response;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q15744-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M2E5-1", "uniprot_id": [ { "id": "CE064_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M2E5", "type": "external" } ], "mass": 14817.0, "length": 130, "protein_name": "Uncharacterized protein encoded by LINC03122", "gene_name": "LINC03122", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC03122; C5orf64", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein encoded by LINC03122; Long intergenic non-protein coding RNA 3122", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2M2H1;Q8N1U8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q2M2E5-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2WEN9-1", "uniprot_id": [ { "id": "CEA16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2WEN9", "type": "external" } ], "mass": 45873.0, "length": 425, "protein_name": "Cell adhesion molecule CEACAM16", "gene_name": "CEACAM16", "organism": "Human", "refseq_name": "cell adhesion molecule CEACAM16 precursor", "refseq_ac": [ { "id": "NP_001034302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034302", "type": "external" } ], "gene_names_uniprotkb": "CEACAM16; CEAL2", "gene_names_refseq": "CEACAM16; CEAL2; DFNA4B; DFNB113", "protein_names_uniprotkb": "Cell adhesion molecule CEACAM16; CEA cell adhesion molecule 16; Carcinoembryonic antigen-like 2; Carcinoembryonic antigen-related cell adhesion molecule 16", "protein_names_refseq": "carcinoembryonic antigen like-2 protein; carcinoembryonic antigen related cell adhesion molecule 16; cell adhesion molecule CEACAM16 precursor; cell adhesion molecule CEACAM16", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 4A (Disease Ontology:DOID:0110573); autosomal dominant nonsyndromic deafness 4B (Disease Ontology:DOID:0110574); autosomal recessive nonsyndromic deafness 113 (Disease Ontology:DOID:0111636)", "pathway": " (hsa:388551)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "21368133;22544735;25589040;26497080;28228285;29351928;29703829;31844290;33040498;35051231", "class_list": "", "function": "CEACAM16 can probably form higher order structures with other tectorial membrane proteins such as alpha-tectorin and beta-tectorin and influences the physical properties of the tectorial membrane, [RefSeq, PubMed]; Data identify CEACAM16 as an alpha-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus, [RefSeq, PubMed]; Data indicate that a heterozygous missense mutation, c.505G>A (p.G169R) in exon 3 of the CEACAM16 gene (carcinoembryonic antigen-related cell adhesion molecule 16) was identified in autosomal dominant nonsyndromic hearing loss family., [RefSeq, PubMed]; Required for proper hearing, plays a role in maintaining the integrity of the tectorial membrane., [UniProtKB, PubMed, PubMed, PubMed]; Results confirm that CEACAM6 promoted cell proliferation mediated by cyclin D1/CDK4., [RefSeq, PubMed]; The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]., [RefSeq]; [Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss]., [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": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A7LI12", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0032426 stereocilium tip", "go_biological_process": "GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q2WEN9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5BLP8-1", "uniprot_id": [ { "id": "NICOL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5BLP8", "type": "external" } ], "mass": 10170.0, "length": 95, "protein_name": "NELL2-interacting cell ontogeny regulator 1", "gene_name": "NICOL1", "organism": "Human", "refseq_name": "NELL2-interacting cell ontogeny regulator 1 precursor", "refseq_ac": [ { "id": "NP_001135408", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135408", "type": "external" } ], "gene_names_uniprotkb": "NICOL1; C4orf48", "gene_names_refseq": "C4orf48; CHR4_55; NICOL1; NICOL", "protein_names_uniprotkb": "NELL2-interacting cell ontogeny regulator 1; NELL2-interacting cofactor for lumicrine signaling; NICOL", "protein_names_refseq": "NELL2-interacting cell ontogeny regulator 1 precursor; NELL2-interacting cofactor for lumicrine signaling; NELL2-interacting cofactor for lumicrine signalling; neuropeptide-like protein C4orf48", "tax_id": 9606, "disease": "", "pathway": " (hsa:401115)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "15809229;21287218;24715725;26154972;27846572;27920218;28832583;28904123;29242379;29557506;30429286;30620550;31844290;32157095;32350084;32938616;33298915;33936100;33968037;34171305;34211107;34357683;34561969;35251023;35580925;38625739", "class_list": "", "function": "C4Orf48 probably encodes a novel neuropeptide, which, if hemizygously deleted, may be involved in the observed intellectual and fine motor disabilities and thus in the overall neurological aspects of Wolf-Hirschhorn syndrome., [RefSeq, PubMed]; The secreted micropeptide C4orf48 enhances renal fibrosis via an RNA-binding mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; mRNA-binding protein which interacts with a range of target mRNAs including SERPINE1, ACTA2, CCN2 and COL4A1 and may promote extracellular matrix production. Binds to the 3'-UTR of SERPINE1 mRNA and stabilizes the mRNA, possibly by competing for binding with SERBP1 and preventing SERBP1-mediated mRNA degradation. Also binds to the 3'-UTR of ACTA2. Testis-derived lumicrine factor that triggers epididymal differentiation and sperm maturation., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B6ZDN0;B7ZBI7;B7ZBI8;X6RBU3", "ec_number_list": [], "go_molecular_function": "GO:0003730 mRNA 3'-UTR binding;GO:1990459 transferrin receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0070935 3'-UTR-mediated mRNA stabilization", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q5BLP8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T0Z8-1", "uniprot_id": [ { "id": "CF132_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T0Z8", "type": "external" } ], "mass": 124034.0, "length": 1188, "protein_name": "Uncharacterized protein C6orf132", "gene_name": "C6orf132", "organism": "Human", "refseq_name": "uncharacterized protein C6orf132", "refseq_ac": [ { "id": "NP_001157918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157918", "type": "external" } ], "gene_names_uniprotkb": "C6orf132", "gene_names_refseq": "C6orf132; LncCCLM; bA7K24.2", "protein_names_uniprotkb": "Uncharacterized protein C6orf132", "protein_names_refseq": "cervical cancer lymphatic metastasis-associated lncRNA; uncharacterized protein C6orf132", "tax_id": 9606, "disease": "", "pathway": " (hsa:647024)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "20068231;24129315;25505266;25576301;28832583;29242379;29557506;29789417;30192525;30429286;30779550;31154438;31848261;32157095;33537174;33968037;34185709;34509645;35051231;35580925;36241641;36284347", "class_list": "", "function": "", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6NI05", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q5T0Z8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T6M2-1", "uniprot_id": [ { "id": "CF122_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T6M2", "type": "external" } ], "mass": 23040.0, "length": 205, "protein_name": "Putative uncharacterized protein encoded by LINC00242", "gene_name": "LINC00242", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00242; C6orf122; NCRNA00242", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00242", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0VD89;Q96N37", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5T6M2-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6W349-1", "uniprot_id": [ { "id": "CD011_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6W349", "type": "external" } ], "mass": 10157.0, "length": 94, "protein_name": "Putative uncharacterized protein encoded by LINC00575", "gene_name": "LINC00575", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00575; C4orf11", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00575", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "15218245", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "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": "Q6W349-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZTR5-5", "uniprot_id": [ { "id": "CFA47_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZTR5", "type": "external" } ], "mass": 361625.0, "length": 3187, "protein_name": "Cilia- and flagella-associated protein 47", "gene_name": "CFAP47", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 47 isoform 1", "refseq_ac": [ { "id": "NP_001291477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291477", "type": "external" } ], "gene_names_uniprotkb": "CFAP47; CHDC2; CXorf22; CXorf30; CXorf59", "gene_names_refseq": "CFAP47; CHDC2; CXorf22; CXorf30; CXorf59; SPGF52; SPGFX3", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 47", "protein_names_refseq": "calponin homology domain-containing protein 2; cilia- and flagella-associated protein 47 isoform 1", "tax_id": 9606, "disease": "X-linked spermatogenic failure 3 (Disease Ontology:DOID:0112274); male infertility (Disease Ontology:DOID:12336)", "pathway": " (hsa:286464)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "29242379;29557506;31092671;32488085;32983136;33472045;33592498;33912179;35051231;35494241;35580925;36010968;36571501;37424856;37723893;38253038", "class_list": "", "function": "A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella. Publication Status: Online-Only, [RefSeq, PubMed]; Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility., [RefSeq, PubMed]; Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD., [RefSeq, PubMed]; Plays a role in flagellar formation and sperm motility., [UniProtKB, PubMed]; WDR87 interacts with CFAP47 protein in the middle piece of spermatozoa flagella to participate in sperm tail assembly., [RefSeq, PubMed]; While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 63, "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": "A0A140T8X2;A6PW82;B1ARL5;Q5JRM8;Q8N6X8;Q8N9S7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0120212 sperm head-tail coupling apparatus", "go_biological_process": "GO:0060271 cilium assembly;GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q6ZTR5-5", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q70JA7-1", "uniprot_id": [ { "id": "CHSS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q70JA7", "type": "external" } ], "mass": 100284.0, "length": 882, "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "organism": "Human", "refseq_name": "chondroitin sulfate synthase 3", "refseq_ac": [ { "id": "NP_787052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_787052", "type": "external" } ], "gene_names_uniprotkb": "CHSY3; CHSY2; CSS3", "gene_names_refseq": "CHSY2; CHSY3; CSS3", "protein_names_uniprotkb": "Chondroitin sulfate synthase 3; 2.4.1.175; 2.4.1.226; Carbohydrate synthase 2; ChSy-2; Chondroitin glucuronyltransferase 3; Chondroitin synthase 2; Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II; N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 3; N-acetylgalactosaminyltransferase 3", "protein_names_refseq": "N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 3; N-acetylgalactosaminyltransferase 3; carbohydrate synthase 2; chSy-2; chondroitin glucuronyltransferase 3; chondroitin sulfate synthase 3; chondroitin synthase-2; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II", "tax_id": 9606, "disease": "", "pathway": " (hsa:337876); (R-HSA-2022870)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10187838;10781596;10781601;10963998;11056388;11139592;11514575;11788602;12080076;12145278;12163485;12761225;12874280;12907687;17081983;17227754;17253960;18316376;21129727;21129728;21468578;23584533;27599773;27600516;29331515;29514872;29557506;30429286;30459171;31848261;32157095;32350084;32488085;32938616;33089528;33390789;33968037;34357683;35051231;35251023;37461041;38812506;41298522;9883891", "class_list": "glycogene;glycosyltransferase", "function": "CHSY3 promotes proliferation and migration in gastric cancer and is associated with immune infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]., [RefSeq]; Catalytic component of CHSY1-CHPF2 and CHSY1-CHPF chondroitin sulfate synthase complexes (PubMed:41298522). Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Specific activity is much reduced compared to CHSY1., [UniProtKB, PubMed, PubMed]; Chondroitin synthase-3 regulates nucleus pulposus degeneration through actin-induced YAP signaling., [RefSeq, PubMed]; Reduction of pl-CSA through ChSy-2 knockout inhibits tumorigenesis and metastasis of choriocarcinoma in JEG3 cells. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that chondroitin polymerization is achieved by multiple combinations of chondroitin synthase-1, chondroitin synthase-2, and chondroitin-polymerizing factor, [RefSeq, PubMed]; The full-length open reading frame consists of 882 amino acids and encodes a typical type II membrane protein. This enzyme contains a beta 3-glycosyltransferase motif and a beta 4-glycosyltransferase motif similar to that found in CSS1., [RefSeq, PubMed]; The present study focused on the expression of chondroitin-synthesizing enzymes in colorectal cancer., [RefSeq, PubMed]; The prognostic implications and tumor-promoting functions of CHSY3 in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "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": 3, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 1158, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B2RP97;Q76L22;Q86Y52", "ec_number_list": [ { "id": "2.4.1.175", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.175", "type": "external" }, { "id": "2.4.1.226", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.226", "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:0050510 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity;GO:0047238 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0050650 chondroitin sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q70JA7-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000010001.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q71F23-1", "uniprot_id": [ { "id": "CENPU_HUMAN", "url": "https://www.uniprot.org/uniprot/Q71F23", "type": "external" } ], "mass": 47522.0, "length": 418, "protein_name": "Centromere protein U", "gene_name": "CENPU", "organism": "Human", "refseq_name": "centromere protein U", "refseq_ac": [ { "id": "NP_078905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078905", "type": "external" } ], "gene_names_uniprotkb": "CENPU; ICEN24; KLIP1; MLF1IP; PBIP1", "gene_names_refseq": "CENP50; CENPU50; CENPU; KLIP1; MLF1IP; PBIP1", "protein_names_uniprotkb": "Centromere protein U; CENP-50; CENP-U; Centromere protein of 50 kDa; Interphase centromere complex protein 24; KSHV latent nuclear antigen-interacting protein 1; MLF1-interacting protein; Polo-box-interacting protein 1", "protein_names_refseq": "KSHV latent nuclear antigen interacting protein 1; MLF1 interacting protein; centromere protein U; centromere protein of 50 kDa; interphase centromere complex protein 24; polo-box-interacting protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79682); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-606279); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 142, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;12941884;14730319;15006353;15085137;15116101;15339662;15369671;15507212;15723797;15737063;15864301;15866170;15893739;15944396;16292343;16439214;16541025;16565220;16622419;16622420;16682347;16716197;16890222;16943183;17030981;17081991;17112726;17113138;17129783;17188028;17196341;17198702;17199038;17339379;1737036;18001770;18097444;18669648;18691976;18716626;18923426;18991276;19350017;19398759;19410544;19410545;19651622;19690332;19691289;19696148;19815554;19965387;20030946;20068231;20080577;20101212;20566683;20591975;21111234;21148482;21397845;21576392;21768289;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23186163;23222643;23481700;23801653;24714562;24914801;25740311;25789526;25892735;26758079;26992070;28228285;28514659;28832583;28904123;29154753;29242379;29437277;29508533;29557506;29769354;30315122;30379171;30410026;30779550;31217245;31409757;31530632;31685831;31844290;32157095;32357974;32502341;32983136;33691108;33912179;33936100;33968037;33981976;34171305;34260926;34932366;34957303;35051231;35122991;35580925;36010968;36608638;40596516;9649308;9649503;9892021", "class_list": "", "function": "A possible role for MLF1IP deregulation in the genesis of erythroleukemias, [RefSeq, PubMed]; Abnormal Expression of Centromere Protein U Is Associated with Hepatocellular Cancer Progression. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Plays an important role in the correct PLK1 localization to the mitotic kinetochores. A scaffold protein responsible for the initial recruitment and maintenance of the kinetochore PLK1 population until its degradation. Involved in transcriptional repression., [UniProtKB, PubMed, PubMed, PubMed]; Knockdown of CENPU inhibits cervical cancer cell migration and stemness through the FOXM1/Wnt/beta-catenin pathway., [RefSeq, PubMed]; MLF1IP was found in glioblastomas where it was co-localized with MLF1 and nestin. Moreover, it was elevated in the contralateral brain where no tumor cells occurred, suggesting a role in glioma pathogenesis and potentially in other types of malignancies., [RefSeq, PubMed]; Overexpression of MLF1IP promotes colorectal cancer cell proliferation through BRCA1/AKT/p27 signaling pathway., [RefSeq, PubMed]; The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[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": 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": 4, "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": "A2RRD9;Q09GN2;Q32Q71;Q9H5G1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000776 kinetochore;GO:0034451 centriolar satellite", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007059 chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q71F23-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L1S5-1", "uniprot_id": [ { "id": "CHST9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L1S5", "type": "external" } ], "mass": 52055.0, "length": 443, "protein_name": "Carbohydrate sulfotransferase 9", "gene_name": "CHST9", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 9 isoform 2", "refseq_ac": [ { "id": "NP_001243245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243245", "type": "external" } ], "gene_names_uniprotkb": "CHST9; PRO6175", "gene_names_refseq": "CHST9; GALNAC4ST-2; GalNAc4ST2", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 9; 2.8.2.-; GalNAc-4-O-sulfotransferase 2; GalNAc-4-ST2; GalNAc4ST-2; N-acetylgalactosamine-4-O-sulfotransferase 2", "protein_names_refseq": "GalNAc-4-sulfotransferase 2; N-acetylgalactosamine 4-O-sulfotransferase 2; carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9; carbohydrate sulfotransferase 9 isoform 2; galNAc-4-O-sulfotransferase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:83539)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11139592;11445554;12975309;21156230;23584533;25892735;27600516;28132690;28924212;29769354;31481703;32157095;34171305;35051231;37074911", "class_list": "glycan-modifying enzyme;glycogene;glycosyltransferase", "function": "A Frameshift Variant in the CHST9 Gene Identified by Family-Based Whole Genome Sequencing Is Associated with Schizophrenia in Chinese Population. Publication Status: Online-Only, [RefSeq, PubMed]; Active against chondroitin but not against terminal beta-1,4-linked GalNAc., [UniProtKB, PubMed]; CHST9 rs1436904 polymorphism significantly contributes to prognosis of early-stage TNBC, suggesting its clinical potential in the screening of high-risk TNBC patients for recurrence and the possibility of patient-tailored therapeutic decisions. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the transfer of sulfate from 3'-phosphoadenylyl sulfate (PAPS) to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans (PubMed:11139592, PubMed:11445554). Transfers sulfate to the C-4 hydroxyl of terminal beta-1,4-linked GalNAc in the sequence GalNAc-beta-1,4GlcNAcbeta-R found on N-linked oligosaccharides and to the nonterminal beta-1,4-linked GalNAc in chondroitin and dermatan (PubMed:11445554). Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures (PubMed:11139592, PubMed:11445554)., [UniProtKB, PubMed, PubMed]; The copy number variations of CHST9 have been shown to associate with hematologic malignancies, [RefSeq, PubMed]; The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 561, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q6UX69;Q9BXH3;Q9BXH4;Q9BZW9", "ec_number_list": [], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0001537 dermatan 4-sulfotransferase activity;GO:0047756 chondroitin 4-sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0016020 membrane", "go_biological_process": "GO:0016051 carbohydrate biosynthetic process;GO:0042446 hormone biosynthetic process;GO:0030203 glycosaminoglycan metabolic process;GO:0006790 sulfur compound metabolic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 139, "hit_score": 2.7, "record_id": "Q7L1S5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.11010", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L2Z9-1", "uniprot_id": [ { "id": "CENPQ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L2Z9", "type": "external" } ], "mass": 30595.0, "length": 268, "protein_name": "Centromere protein Q", "gene_name": "CENPQ", "organism": "Human", "refseq_name": "centromere protein Q", "refseq_ac": [ { "id": "NP_060602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060602", "type": "external" } ], "gene_names_uniprotkb": "CENPQ; C6orf139", "gene_names_refseq": "C6orf139; CENP-Q; CENPQ", "protein_names_uniprotkb": "Centromere protein Q; CENP-Q", "protein_names_refseq": "centromere protein Q", "tax_id": 9606, "disease": "", "pathway": " (hsa:55166); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-606279); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 112, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15369671;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;17199038;17339379;1737036;18001770;18097444;18691976;18716626;18923426;19007248;19350017;19398759;19410544;19410545;19696148;19815554;19965387;20030946;20068231;20080577;20101212;20566683;20591975;21111234;21148482;21397845;21406692;21454580;21576392;21768289;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23028590;23186163;23222643;23801653;24914801;25395579;25670858;25740311;25789526;26992070;28832583;28904123;30429286;30833945;31217245;31409757;31530632;31844290;32157095;32387766;32502341;32897882;32938616;33912179;33968037;34171305;34260926;34932366;39894887;9649308;9649503;9892021", "class_list": "", "function": "CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]., [RefSeq]; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex (PubMed:16622420). Plays an important role in chromosome congression and in the recruitment of CENP-O complex (which comprises CENPO, CENPP, CENPQ and CENPU), CENPE and PLK1 to the kinetochores (PubMed:25395579)., [UniProtKB, PubMed, PubMed]; Data propose that CENP-P/O/R/Q/U self-assembles on kinetochores with varying stoichiometry and undergoes a pre-mitotic maturation step that could be important for kinetochores switching into the correct conformation for microtubule-attachment., [RefSeq, PubMed]; Mammalian polo-like kinase 1-dependent regulation of the PBIP1-CENP-Q complex at kinetochores., [RefSeq, PubMed]; Plk1 regulates the timing of the delocalization and ultimate destruction of the PBIP1.CENP-Q complex., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 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": "A8KAF1;Q6IN61;Q9NVS5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000939 inner kinetochore;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051310 metaphase chromosome alignment;GO:1905342 positive regulation of protein localization to kinetochore;GO:0007059 chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q7L2Z9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N0S6-1", "uniprot_id": [ { "id": "CENPL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N0S6", "type": "external" } ], "mass": 38998.0, "length": 344, "protein_name": "Centromere protein L", "gene_name": "CENPL", "organism": "Human", "refseq_name": "centromere protein L isoform 1", "refseq_ac": [ { "id": "NP_001120653", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120653", "type": "external" } ], "gene_names_uniprotkb": "CENPL; C1orf155; ICEN33", "gene_names_refseq": "C1orf155; CENP-L; CENPL; dJ383J4.3", "protein_names_uniprotkb": "Centromere protein L; CENP-L; Interphase centromere complex protein 33", "protein_names_refseq": "centromere protein L isoform 1; interphase centromere complex protein 33", "tax_id": 9606, "disease": "", "pathway": " (hsa:91687); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-606279); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 109, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15369671;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16716197;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;17199038;17339379;1737036;18001770;18097444;18716626;18923426;19350017;19398759;19410544;19410545;19696148;19815554;19965387;20030946;20068231;20080577;20101212;20566683;20591975;21111234;21148482;21397845;21576392;21768289;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23186163;23222643;23481700;23801653;24914801;25740311;25789526;26698661;28832583;28904123;31217245;31409757;31844290;32938616;33298915;33936100;33968037;33981976;34171305;34260926;34405274;34457090;34607313;35051231;35580925;36572856;37914022;37938771;39894887;9649308;9649503;9892021", "class_list": "", "function": "CENPL accelerates cell proliferation, cell cycle, apoptosis, and glycolysis via the MEK1/2-ERK1/2 pathway in hepatocellular carcinoma., [RefSeq, PubMed]; CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008]., [RefSeq]; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex., [UniProtKB, PubMed]; High mRNA Expression of CENPL and Its Significance in Prognosis of Hepatocellular Carcinoma Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Highly expressed centromere protein L indicates adverse survival and associates with immune infiltration in hepatocellular carcinoma., [RefSeq, PubMed]; Overexpression of CENPL mRNA potentially regulated by miR-340-3p predicts the prognosis of pancreatic cancer patients. Erratum:[BMC Cancer. 2023 Jan 5;23(1):12. doi: 10.1186/s12885-023-10504-2. PMID: 36604665] Publication Status: Online-Only, [RefSeq, PubMed]; Study demonstrate that the CENP-L-N complex plays a crucial role at the core of the 16-subunit Constitutive Centromere-Associated Network through interactions with CENP-C and CENP-H-I-KM., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5TEL5;Q96ND4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0007059 chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q8N0S6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N319-3", "uniprot_id": [ { "id": "CF223_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N319", "type": "external" } ], "mass": 26113.0, "length": 242, "protein_name": "Uncharacterized protein LINC03040", "gene_name": "LINC03040", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC03040; C6orf223", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein LINC03040", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 21, "publication_id_list": "23481700;24616531;24714562;24715725;25418920;25469497;25576301;26728094;27920218;28063628;28832583;29242379;29632046;30379171;31844290;31848261;33141586;33298915;34211107;35580925;35705054", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "E9PB59;Q8N575", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8N319-3", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7Q2-1", "uniprot_id": [ { "id": "CEAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7Q2", "type": "external" } ], "mass": 20470.0, "length": 184, "protein_name": "Putative uncharacterized protein CELF2-AS1", "gene_name": "CELF2-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CELF2-AS1; C10orf31", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein CELF2-AS1; CELF2 antisense RNA 1; CELF2 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "24715725;33968037", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NFV2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N7Q2-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NET6-1", "uniprot_id": [ { "id": "CHSTD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NET6", "type": "external" } ], "mass": 38920.0, "length": 341, "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 13", "refseq_ac": [ { "id": "NP_690849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690849", "type": "external" } ], "gene_names_uniprotkb": "CHST13", "gene_names_refseq": "C4ST3; CHST13", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 13; 2.8.2.5; C4ST-3; C4ST3; Chondroitin 4-O-sulfotransferase 3; Chondroitin 4-sulfotransferase 3", "protein_names_refseq": "C4ST-3; carbohydrate (chondroitin 4) sulfotransferase 13; carbohydrate sulfotransferase 13; chondroitin 4-O-sulfotransferase 3; chondroitin 4-sulfotransferase 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:166012); (R-HSA-2022870)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10187838;10781596;10781601;10963998;11056388;11139592;11514575;11788602;12080076;12145278;12163485;12761225;12874280;12907687;17227754;18316376;20580388;21129727;21129728;24275569;26993826;27599773;28832583;29242379;29514872;29557506;30118797;31844290;31845005;32350084;32387766;35051231;35580925;37074911;9883891", "class_list": "glycogene", "function": "Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease., [RefSeq, PubMed]; Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Transfers sulfate to the C4 hydroxyl of beta1,4-linked GalNAc that is substituted with a beta-linked glucuronic acid at the C-3 hydroxyl. No activity toward dermatan., [UniProtKB]; Mol cloning and characterization, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011]., [RefSeq]; These results have demonstrated that CHST11 and CHST13 negatively modulate metastasis and drug resistance of HCC cells probably via oncogenic MAPK signal pathway., [RefSeq, PubMed]; We show that the CHST3 and CHST13 alleles are significantly more frequent in pulmonary arterial hypertension patients with elevated aminotransferases during therapy with bosentan than those in patients without liver injury. This is the first pharmacogenomics study linking proteoglycan sulfating genes to drug-induced liver dysfunction. Erratum:[Pharmacol Res. 2019 Jan;139:570. doi: 10.1016/j.phrs.2018.09.018. PMID: 30292639], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 574, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3SYA3;Q3SYA5", "ec_number_list": [ { "id": "2.8.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.5", "type": "external" }, { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0001537 dermatan 4-sulfotransferase activity;GO:0047756 chondroitin 4-sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0016051 carbohydrate biosynthetic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process;GO:0030166 proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q8NET6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NI28-1", "uniprot_id": [ { "id": "R32DT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NI28", "type": "external" } ], "mass": 22304.0, "length": 216, "protein_name": "Putative transmembrane protein RNF32-DT", "gene_name": "RNF32-DT", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RNF32-DT; C7orf13; LINC01006; MY040", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative transmembrane protein RNF32-DT; RNF32 divergent transcript", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "11890671;25418920;35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8NI28-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H7B7-1", "uniprot_id": [ { "id": "CG069_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H7B7", "type": "external" } ], "mass": 14425.0, "length": 122, "protein_name": "Putative uncharacterized protein PKD1L1-AS1", "gene_name": "PKD1L1-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PKD1L1-AS1; C7orf69", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PKD1L1-AS1; PKD1L1 antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "27846572", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D2F1;Q14CN7;Q75MJ5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9H7B7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCU4-1", "uniprot_id": [ { "id": "CELR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCU4", "type": "external" } ], "mass": 317453.0, "length": 2923, "protein_name": "Cadherin EGF LAG seven-pass G-type receptor 2", "gene_name": "CELSR2", "organism": "Human", "refseq_name": "cadherin EGF LAG seven-pass G-type receptor 2 precursor", "refseq_ac": [ { "id": "NP_001399", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001399", "type": "external" } ], "gene_names_uniprotkb": "CELSR2; CDHF10; EGFL2; KIAA0279; MEGF3", "gene_names_refseq": "ADGRC2; CDHF10; CELSR2; EGFL2; Flamingo1; MEGF3", "protein_names_uniprotkb": "Cadherin EGF LAG seven-pass G-type receptor 2; Cadherin family member 10; EGF-like protein 2; Epidermal growth factor-like protein 2; Flamingo homolog 3; Multiple EGF-like domains protein 3; Multiple epidermal growth factor-like domains protein 3", "protein_names_refseq": "EGF-like protein 2; EGF-like-domain, multiple 2; adhesion G protein-coupled receptor C2; cadherin EGF LAG seven-pass G-type receptor 2 precursor; cadherin family member 10; cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila); epidermal growth factor-like 2; epidermal growth factor-like protein 2; flamingo homolog 3; multiple EGF like domains 3; multiple EGF-like domains protein 3; multiple epidermal growth factor-like domains 3; multiple epidermal growth factor-like domains protein 3", "tax_id": 9606, "disease": "hydrocephalus (Disease Ontology:DOID:10908)", "pathway": " (hsa:1952)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10907856;18669648;23090970;23584533;24190977;25576301;25645385;25892735;26992070;27600516;28834231;29314611;29331515;29393594;29557506;29741879;29786170;29983323;30429286;30459171;30524438;31154438;31844290;31848261;32157095;32161166;32293343;32350084;32387766;32488085;32502341;32574038;32938616;33392160;33592498;33810964;33912179;33968037;34087483;34171305;34478580;34509645;34983065;35051231;35138101;35251023;35289036;36010968;36215666;37074911;37224017;37340703", "class_list": "", "function": "CELSR2 deficiency suppresses lipid accumulation in hepatocyte by impairing the UPR and elevating ROS level., [RefSeq, PubMed]; Identification of CELSR2 as a novel prognostic biomarker for hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Inactivating Celsr2 promotes motor axon fasciculation and regeneration in mouse and human., [RefSeq, PubMed]; Receptor that may have an important role in cell/cell signaling during nervous system formation., [UniProtKB]; Rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography., [RefSeq, PubMed]; The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms., [RefSeq, PubMed]; The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 13, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 13, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 13, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 13, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 130, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 28, "disease_count": 1, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "Q5T2Y7;Q92566", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007409 axonogenesis;GO:0006355 regulation of DNA-templated transcription;GO:0022407 regulation of cell-cell adhesion;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9HCU4-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYQ7-1", "uniprot_id": [ { "id": "CELR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYQ7", "type": "external" } ], "mass": 358185.0, "length": 3312, "protein_name": "Cadherin EGF LAG seven-pass G-type receptor 3", "gene_name": "CELSR3", "organism": "Human", "refseq_name": "cadherin EGF LAG seven-pass G-type receptor 3 precursor", "refseq_ac": [ { "id": "NP_001398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001398", "type": "external" } ], "gene_names_uniprotkb": "CELSR3; CDHF11; EGFL1; FMI1; KIAA0812; MEGF2", "gene_names_refseq": "ADGRC3; CDHF11; CELSR3; EGFL1; FMI1; HFMI1; MEGF2; RESDA1", "protein_names_uniprotkb": "Cadherin EGF LAG seven-pass G-type receptor 3; Cadherin family member 11; EGF-like protein 1; Epidermal growth factor-like protein 1; Flamingo homolog 1; Multiple EGF-like domains protein 2; Multiple epidermal growth factor-like domains protein 2; hFmi1", "protein_names_refseq": "EGF-like protein 1; EGF-like-domain, multiple 1; adhesion G protein-coupled receptor C3; anchor protein; cadherin EGF LAG seven-pass G-type receptor 3 precursor; cadherin family member 11; cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila); epidermal growth factor-like protein 1; flamingo homolog 1; multiple EGF-like domains protein 2; multiple epidermal growth factor-like domains protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:1951)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10.1101/2023.09.13.557529;10716726;18077418;18669648;23339110;23481700;24358150;24715725;25576301;28228285;29237092;29242379;29393594;29508533;29557506;29632711;29769354;29786170;30192525;30315122;30410802;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;33141586;33392160;33592498;33968037;33981976;34211107;34561969;34582697;34951123;35051231;35165064;35251023;35254053;35494241;35580925;36010968;36284347;37224017;38253038;38507078;9693030", "class_list": "", "function": "CELSR3 is a prognostic marker in HNSCC and correlates with immune cell infiltration in the tumor microenvironment., [RefSeq, PubMed]; CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures., [RefSeq, PubMed]; Clinical Significance and Underlying Mechanisms of CELSR3 in Metastatic Prostate Cancer Based on Immunohistochemistry, Data Mining, and In Silico Analysis., [RefSeq, PubMed]; Evaluated expression of CELSR3 in oral squamous cell carcinoma is associated with perineural invasion and poor prognosis., [RefSeq, PubMed]; Receptor that may have an important role in cell/cell signaling during nervous system formation., [UniProtKB]; The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms., [RefSeq, PubMed]; This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 14, "predicted_n_glycosites": 10, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 93, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "O75092", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007409 axonogenesis;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0060071 Wnt signaling pathway, planar cell polarity pathway;GO:0044331 cell-cell adhesion mediated by cadherin", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9NYQ7-1", "record_type": "protein", "filter_code": "0000000.1000101.001000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6K0-1", "uniprot_id": [ { "id": "CEPT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6K0", "type": "external" } ], "mass": 46554.0, "length": 416, "protein_name": "Choline/ethanolaminephosphotransferase 1", "gene_name": "CEPT1", "organism": "Human", "refseq_name": "choline/ethanolaminephosphotransferase 1 isoform 1", "refseq_ac": [ { "id": "NP_001007795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007795", "type": "external" } ], "gene_names_uniprotkb": "CEPT1; PRO1101", "gene_names_refseq": "CEPT1", "protein_names_uniprotkb": "Choline/ethanolaminephosphotransferase 1; 1-alkenyl-2-acylglycerol choline phosphotransferase; 2.7.8.1; 2.7.8.22; 2.7.8.2; hCEPT1", "protein_names_refseq": "1-alkenyl-2-acylglycerol choline phosphotransferase; choline/ethanolaminephosphotransferase 1 isoform 1", "tax_id": 9606, "disease": "retinal disease (Disease Ontology:DOID:5679)", "pathway": " (hsa:10390); (R-HSA-1483191); (R-HSA-1483213)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "10100195;10191259;10677542;10893425;11044454;11068039;11237011;11420179;11698453;12055623;12216837;12221122;14973250;15175005;15715662;15911624;17007874;17132865;17158099;17478478;17561512;18583706;18691976;18694939;19915674;20068231;20338778;21926997;22241472;23186163;23328280;23481700;23901139;24714562;24715725;24732803;24828044;25418920;25576301;25645385;25802875;25892735;26005868;26048993;26154972;26375851;26728094;26945070;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28821867;28832583;28834231;29242379;29393594;29437277;29493099;29557506;29632711;29769354;29786170;30315122;30410026;30524438;3057511;30779550;31154438;31217245;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32576654;32897882;32938616;32983136;33141586;33214136;33392160;33592498;33717175;33912179;33936100;34185709;34331935;34357683;34509645;34932366;35051231;35083852;35318648;35580925;36010968;36241641;37137909;37938771;38430542;9083101;9593753", "class_list": "", "function": "A yeast expression system devoid of endogenous cholinephosphotransferase and ethanolaminephosphotransferase activities to assess the diradylglycerol specificity of CEPT1, [RefSeq, PubMed]; CEPT1-Mediated Phospholipogenesis Regulates Endothelial Cell Function and Ischemia-Induced Angiogenesis Through PPARalpha., [RefSeq, PubMed]; Catalyzes both phosphatidylcholine and phosphatidylethanolamine biosynthesis from CDP-choline and CDP-ethanolamine, respectively. Involved in protein-dependent process of phospholipid transport to distribute phosphatidyl choline to the lumenal surface. Has a higher cholinephosphotransferase activity than ethanolaminephosphotransferase activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Differential contributions of choline phosphotransferases CPT1 and CEPT1 to the biosynthesis of choline phospholipids., [RefSeq, PubMed]; Locations and contributions of the phosphotransferases EPT1 and CEPT1 to the biosynthesis of ethanolamine phospholipids., [RefSeq, PubMed]; Proteomic analysis of ferroptosis pathways reveals a role of CEPT1 in suppressing ferroptosis., [RefSeq, PubMed]; Structural basis for catalysis of human choline/ethanolamine phosphotransferase 1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 27, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q69YJ9;Q9P0Y8", "ec_number_list": [ { "id": "2.7.8.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.2", "type": "external" }, { "id": "2.7.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.1", "type": "external" }, { "id": "2.7.8.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.22", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004142 diacylglycerol cholinephosphotransferase activity;GO:0004307 ethanolaminephosphotransferase activity;GO:0047359 1-alkenyl-2-acylglycerol choline phosphotransferase activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006656 phosphatidylcholine biosynthetic process;GO:0006646 phosphatidylethanolamine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q9Y6K0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0PK11-1", "uniprot_id": [ { "id": "CLRN2_HUMAN", "url": "https://www.uniprot.org/uniprot/A0PK11", "type": "external" } ], "mass": 25446.0, "length": 232, "protein_name": "Clarin-2", "gene_name": "CLRN2", "organism": "Human", "refseq_name": "clarin-2", "refseq_ac": [ { "id": "NP_001073296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296", "type": "external" } ], "gene_names_uniprotkb": "CLRN2", "gene_names_refseq": "CLRN2; DFNB117", "protein_names_uniprotkb": "Clarin-2", "protein_names_refseq": "clarin-2", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness (Disease Ontology:DOID:0050565); autosomal recessive nonsyndromic deafness 117 (Disease Ontology:DOID:0070671)", "pathway": " (hsa:645104)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "29242379;31448880;33496845", "class_list": "", "function": "A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans., [RefSeq, PubMed]; Plays a key role to hearing function. Required for normal organization and maintenance of the stereocilia bundle and for mechano-electrical transduction., [UniProtKB, UniProtKB]; This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]., [RefSeq]; Utilizing data from the UK Biobank study, we could show that CLRN2 is involved in human non-syndromic progressive hearing loss., [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": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032421 stereocilium bundle;GO:0060171 stereocilium membrane", "go_biological_process": "GO:0007605 sensory perception of sound;GO:0060088 auditory receptor cell stereocilium organization;GO:0120045 stereocilium maintenance", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0PK11-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2RUU4-1", "uniprot_id": [ { "id": "COLL1_HUMAN", "url": "https://www.uniprot.org/uniprot/A2RUU4", "type": "external" } ], "mass": 14057.0, "length": 121, "protein_name": "Colipase-like protein 1", "gene_name": "CLPSL1", "organism": "Human", "refseq_name": "colipase-like protein 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001010886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010886", "type": "external" } ], "gene_names_uniprotkb": "CLPSL1; C6orf127", "gene_names_refseq": "C6orf127; CLPSL1; ESP32; dJ510O8.6", "protein_names_uniprotkb": "Colipase-like protein 1", "protein_names_refseq": "colipase-like protein 1 isoform 1 precursor; colipase-like protein 1; colipase-like protein C6orf127", "tax_id": 9606, "disease": "", "pathway": " (hsa:340204)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;18390568", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A7E2T6;B2RPE2;B5G4V2;B6ZDM9;Q5T9G1", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0007586 digestion", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A2RUU4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NNL5-1", "uniprot_id": [ { "id": "CO061_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NNL5", "type": "external" } ], "mass": 18091.0, "length": 157, "protein_name": "Uncharacterized protein C15orf61", "gene_name": "C15orf61", "organism": "Human", "refseq_name": "uncharacterized protein C15orf61 precursor", "refseq_ac": [ { "id": "NP_001137408", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137408", "type": "external" } ], "gene_names_uniprotkb": "C15orf61", "gene_names_refseq": "C15orf61", "protein_names_uniprotkb": "Uncharacterized protein C15orf61", "protein_names_refseq": "uncharacterized protein C15orf61 precursor; uncharacterized protein C15orf61", "tax_id": 9606, "disease": "", "pathway": " (hsa:145853)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;23481700;25418920;25880248;26992070;27600516;27920218;28228285;28832583;28904123;29242379;29393594;29632046;29769354;30315122;30779550;30833945;31844290;31998317;32157095;32265295;32387766;33141586;33298915;33592498", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DFB2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "A6NNL5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00501-1", "uniprot_id": [ { "id": "CLD5_HUMAN", "url": "https://www.uniprot.org/uniprot/O00501", "type": "external" } ], "mass": 23147.0, "length": 218, "protein_name": "Claudin-5", "gene_name": "CLDN5", "organism": "Human", "refseq_name": "claudin-5 isoform 1", "refseq_ac": [ { "id": "NP_001124333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124333", "type": "external" } ], "gene_names_uniprotkb": "CLDN5; AWAL; TMVCF", "gene_names_refseq": "AWAL; BEC1; CLDN5; CPETRL1; TMDVCF; TMVCF", "protein_names_uniprotkb": "Claudin-5; TMDVCF; Transmembrane protein deleted in VCFS", "protein_names_refseq": "claudin-5 isoform 1; transmembrane protein deleted in VCFS; transmembrane protein deleted in velocardiofacial syndrome", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); malignant hypertension (Disease Ontology:DOID:10824); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); obstructive jaundice (Disease Ontology:DOID:13603); toxic shock syndrome (Disease Ontology:DOID:14115); renovascular hypertension (Disease Ontology:DOID:1591); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); hyperinsulinism (Disease Ontology:DOID:2018); transient cerebral ischemia (Disease Ontology:DOID:224); glomerulonephritis (Disease Ontology:DOID:2921); peripheral vascular disease (Disease Ontology:DOID:341); brain infarction (Disease Ontology:DOID:3454); middle cerebral artery infarction (Disease Ontology:DOID:3525); insulinoma (Disease Ontology:DOID:3892); ureteral obstruction (Disease Ontology:DOID:5199); schizophrenia (Disease Ontology:DOID:5419); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); abdominal aortic aneurysm (Disease Ontology:DOID:7693); diabetic retinopathy (Disease Ontology:DOID:8947); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7122); (R-HSA-420029); (R-HSA-8935964)", "pathway_count": 3, "publication_count": 17, "publication_id_list": "11237011;11447115;11964389;12953056;16129888;18477386;25452107;27862975;29557506;30734065;35051231;36963340;36978081;37303041;38338697;38743384;9192844", "class_list": "", "function": "Association of Plasma Claudin-5 with Age and Alzheimer Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Correlates of Zonulin and Claudin-5, markers of intestinal and brain endothelial permeability, in Parkinson's Disease: A pilot study., [RefSeq, PubMed]; Downregulation of Claudin5 promotes malignant progression and radioresistance through Beclin1-mediated autophagy in esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; MiRNA-224-5p regulates the defective permeability barrier in sensitive skin by targeting claudin-5., [RefSeq, PubMed]; Plays a major role in tight junction-specific obliteration of the intercellular space., [UniProtKB]; The CLDN5 gene at the blood-brain barrier in health and disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 26, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KS11;Q53XW2;Q8WUW3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction;GO:0016020 membrane;GO:0030054 cell junction", "go_biological_process": "GO:0120192 tight junction assembly;GO:0007612 learning;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O00501-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "E9PRG8-1", "uniprot_id": [ { "id": "RSMC_HUMAN", "url": "https://www.uniprot.org/uniprot/E9PRG8", "type": "external" } ], "mass": 14234.0, "length": 123, "protein_name": "28S rRNA/ribosome and sororin micro-cofactor", "gene_name": "C11orf98; RSMC", "organism": "Human", "refseq_name": "uncharacterized protein C11orf98", "refseq_ac": [ { "id": "NP_001273015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273015", "type": "external" } ], "gene_names_uniprotkb": "C11orf98; RSMC; C11orf98", "gene_names_refseq": "C11orf48; C11orf98", "protein_names_uniprotkb": "28S rRNA/ribosome and sororin micro-cofactor", "protein_names_refseq": "uncharacterized protein C11orf98", "tax_id": 9606, "disease": "", "pathway": " (hsa:102288414)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;24714562;25576301;27600516;28589727;28832583;29242379;29393594;30429286;31154438;32157095;32488085;32502341;32983136;33298915;33592498;33936100;33968037;34019948;34211107;34932366;35318648;35580925;37217939;37491604;39894887;41261216", "class_list": "", "function": "Data suggest that C11orf98 microprotein, NPM1, and nucleolin interact and colocalize in the cell nucleolus. (C11orf98 = chromosome 11 open reading frame 98 protein; NPM1 = nucleophosmin 1), [RefSeq, PubMed]; Promotes sister chromatid cohesion by enhancing recruitment of CDCA5/sororin to chromatin during S phase and stimulating the anti-WAPL activity of CDCA5 (PubMed:41261216). Associates with the pre-60S ribosome and may be involved in pre-60S ribosome assembly (PubMed:37491604)., [UniProtKB, PubMed, PubMed]; This gene shares three exons in common with another gene, LBH domain containing 1 (GeneID:79081), but the encoded protein uses a reading frame that is different from that of the LBH domain containing 1 gene. [provided by RefSeq, Nov 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A0A0B4J220", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "E9PRG8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "G3V211-1", "uniprot_id": [ { "id": "CL079_HUMAN", "url": "https://www.uniprot.org/uniprot/G3V211", "type": "external" } ], "mass": 13510.0, "length": 115, "protein_name": "Uncharacterized protein encoded by LINC01619", "gene_name": "LINC01619", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01619; C12orf79", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein encoded by LINC01619", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "F8VRL5;F8VVU4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "G3V211-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10645-1", "uniprot_id": [ { "id": "CMGA_HUMAN", "url": "https://www.uniprot.org/uniprot/P10645", "type": "external" } ], "mass": 50688.0, "length": 457, "protein_name": "Chromogranin-A", "gene_name": "CHGA", "organism": "Human", "refseq_name": "chromogranin-A isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_001266", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266", "type": "external" } ], "gene_names_uniprotkb": "CHGA", "gene_names_refseq": "CGA; CHGA; PHE5; PHES", "protein_names_uniprotkb": "Chromogranin-A; CgA; Pituitary secretory protein I; SL21; SP-I; Vasostatin II; Vasostatin I", "protein_names_refseq": "SP-I; betagranin (N-terminal fragment of chromogranin A); catestatin; chromofungin; chromogranin-A isoform 1 preproprotein; parathyroid secretory protein 1; pituitary secretory protein I", "tax_id": 9606, "disease": "pheochromocytoma (Disease Ontology:DOID:0050771); prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); IgA glomerulonephritis (Disease Ontology:DOID:2986); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:1113); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "10781584;11120840;11237011;11313366;11389039;11971875;12438152;12442257;12493837;13816;14506276;14739326;14740315;14759560;14997482;1522221;15229136;15326220;15723172;1577173;15778384;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16374474;16799473;16807684;16931762;16940129;17363965;17438154;17502600;17567961;17964057;17991725;18021746;18160480;18185531;18541522;18673279;19095652;19179970;19254208;19818633;19838169;20103720;20116404;20180804;20382864;20395631;20510021;20663522;20845358;20965217;21214543;2165909;21787330;22262861;22327069;22455996;22701042;23234360;23302724;23426625;24219363;24239002;24256734;24275569;2445752;24723458;25075772;25326458;25461571;25596890;25958206;26148048;27089320;2830133;29557506;29789417;30078552;30418433;30459171;31154438;3286634;3403545;34185709;35051231;35251023;35580925;36284347;3704195;37113482;37453717;37522122;37938771;38473713;39337398;7535395;8120054;8631342;8910482;9115255;9523110;9665269;9756476;9852066", "class_list": "glycogene", "function": "Catestatin is an antimicrobial peptide with activity against bacteria, fungi, and malaria., [RefSeq, PubMed]; Chromofungin is an antimicrobial peptide with antifungal activity., [RefSeq, PubMed]; Enhanced Association of Novel Cardiovascular Biomarkers Fetuin-A and Catestatin with Serological and Inflammatory Markers in Rheumatoid Arthritis Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits catecholamine release from chromaffin cells and noradrenergic neurons by acting as a non-competitive nicotinic cholinergic antagonist (PubMed:15326220). Displays antibacterial activity against Gram-positive bacteria S.aureus and M.luteus, and Gram-negative bacteria E.coli and P.aeruginosa (PubMed:15723172, PubMed:24723458). Can induce mast cell migration, degranulation and production of cytokines and chemokines (PubMed:21214543). Acts as a potent scavenger of free radicals in vitro (PubMed:24723458). May play a role in the regulation of cardiac function and blood pressure (PubMed:18541522)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Low catestatin as a risk factor for cardiovascular disease - assessment in patients with adrenal incidentalomas. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates granule biogenesis in endocrine cells by up-regulating the transcription of protease nexin 1 (SERPINE2) via a cAMP-PKA-SP1 pathway. This leads to inhibition of granule protein degradation in the Golgi complex which in turn promotes granule formation., [UniProtKB, UniProtKB]; Salivary cortisol, dehydroepiandrosterone, and chromogranin A levels in patients with gingivitis and periodontitis and a novel biomarker for psychological stress. Publication Status: Online-Only, [RefSeq, PubMed]; Strongly inhibits glucose induced insulin release from the pancreas., [UniProtKB, UniProtKB, UniProtKB]; The Role of Catestatin in Preeclampsia. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Two other peptides, catestatin and chromofungin, have antimicrobial activity and antifungal activity, respectively. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 4, "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": 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": 4, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 592, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 5, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2R9E9;Q53FA8;Q6NR84;Q96E84;Q96GL7;Q9BQB5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0071880 adenylate cyclase-activating adrenergic receptor signaling pathway;GO:0008217 regulation of blood pressure", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "P10645-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "H7C241-1", "uniprot_id": [ { "id": "CLD34_HUMAN", "url": "https://www.uniprot.org/uniprot/H7C241", "type": "external" } ], "mass": 24226.0, "length": 214, "protein_name": "Claudin-34", "gene_name": "CLDN34", "organism": "Human", "refseq_name": "claudin-34", "refseq_ac": [ { "id": "NP_001182010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182010", "type": "external" } ], "gene_names_uniprotkb": "CLDN34", "gene_names_refseq": "CLDN34", "protein_names_uniprotkb": "Claudin-34", "protein_names_refseq": "claudin-34", "tax_id": 9606, "disease": "", "pathway": " (hsa:100288814)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "31324691;35051231", "class_list": "", "function": "Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity., [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:0005198 structural molecule activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "H7C241-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95484-1", "uniprot_id": [ { "id": "CLD9_HUMAN", "url": "https://www.uniprot.org/uniprot/O95484", "type": "external" } ], "mass": 22848.0, "length": 217, "protein_name": "Claudin-9", "gene_name": "CLDN9", "organism": "Human", "refseq_name": "claudin-9", "refseq_ac": [ { "id": "NP_066192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066192", "type": "external" } ], "gene_names_uniprotkb": "CLDN9", "gene_names_refseq": "CLDN9; DFNB116", "protein_names_uniprotkb": "Claudin-9", "protein_names_refseq": "claudin-9", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 116 (Disease Ontology:DOID:0112162)", "pathway": " (hsa:9080); (R-HSA-420029)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "11447115;11964389;12953056;16129888;17804490;18083107;20375010;23481700;31175426;33968037;34211107;35580925;36129146;37719361;38253038", "class_list": "", "function": "(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) entry into hepatic cells., [UniProtKB, PubMed, PubMed]; Claudin9 is a novel prognostic biomarker for endometrial cancer., [RefSeq, PubMed]; Pharmacological Activity of Matrine in Inhibiting Colon Cancer Cells VM Formation, Proliferation, and Invasion by Downregulating Claudin-9 Mediated EMT Process and MAPK Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity., [UniProtKB, UniProtKB]; This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein is one of the entry cofactors for hepatitis C virus. Mouse studies revealed that this gene is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Jun 2010]., [RefSeq]; We conclude that CLDN9 is essential for proper audition in humans and its disruption leads to SNHL in humans., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity;GO:0001618 virus receptor activity;GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0030054 cell junction", "go_biological_process": "GO:0007155 cell adhesion;GO:0070830 bicellular tight junction assembly;GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O95484-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23946-1", "uniprot_id": [ { "id": "CMA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P23946", "type": "external" } ], "mass": 27325.0, "length": 247, "protein_name": "Chymase", "gene_name": "CMA1", "organism": "Human", "refseq_name": "chymase isoform 2", "refseq_ac": [ { "id": "NP_001295012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295012", "type": "external" } ], "gene_names_uniprotkb": "CMA1; CYH; CYM", "gene_names_refseq": "CMA1; CYH; MCT1; chymase", "protein_names_uniprotkb": "Chymase; 3.4.21.39; Alpha-chymase; Mast cell protease I", "protein_names_refseq": "alpha-chymase; chymase 1 preproprotein transcript E; chymase 1 preproprotein transcript I; chymase 1, mast cell; chymase isoform 2; chymase, heart; chymase, mast cell; mast cell protease I", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); common cold (Disease Ontology:DOID:10459); sarcoidosis (Disease Ontology:DOID:11335); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); renovascular hypertension (Disease Ontology:DOID:1591); breast cancer (Disease Ontology:DOID:1612); congenital heart disease (Disease Ontology:DOID:1682); cerebral palsy (Disease Ontology:DOID:1969); arteriosclerosis (Disease Ontology:DOID:2349); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); coronary artery disease (Disease Ontology:DOID:3393); brain infarction (Disease Ontology:DOID:3454); cerebral infarction (Disease Ontology:DOID:3526); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); neuroblastoma (Disease Ontology:DOID:769); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1215); (R-HSA-1433557); (R-HSA-1592389); (R-HSA-2022377)", "pathway_count": 4, "publication_count": 155, "publication_id_list": "10358045;10377264;10397721;10523831;10523834;10536878;10679268;10884405;10899625;10924499;10969042;11395417;11494148;11502696;11520784;11707405;11809791;11815627;11830519;12045255;12062105;12192036;12540854;12660731;12824176;12878163;12927775;1311314;1371271;1371879;1375232;1381360;1390635;14747736;1480033;15143187;15283675;15526160;16129412;16483568;1668266;16737840;16790432;16873377;17138938;1721591;17255936;17344430;17662946;17704566;1783204;1848554;1851160;18697750;1894611;19054851;19159218;19800993;20304997;20380117;2049082;2071582;20889553;2159879;2169257;2176865;22193701;2266130;2269296;23446738;23481700;2383557;24141856;2443571;2546891;2551898;2557753;2558510;2708524;27536065;2846041;28904123;29557506;29704617;29964125;3017438;3058116;31085175;31848261;34884420;35513594;37074911;37175975;37298438;37821269;383475;4216367;4289389;4322712;4330891;4360430;6263256;6269175;6270633;6303766;6807977;7506952;7509796;7523381;7526158;7536744;7669817;7680037;7746327;7780967;7826345;7890645;7896811;7980644;7981201;8015608;8144971;8194591;8314771;8495723;8530478;8576151;8611693;8621565;8636116;8645182;8647802;8663255;8695790;8774734;8804434;8950973;8990121;9038210;9045650;9111318;9169443;9256427;9261109;9346290;9355737;9400368;9422744;9446650;9570564;9578462;9632662;9799234;9872323;9931257", "class_list": "", "function": "Human vascular smooth muscle cells utilise chymase for the atypical cleavage and activation of Interleukin-1beta., [RefSeq, PubMed]; Increase in Chymase-Positive Mast Cells in Recurrent Pleomorphic Adenoma and Carcinoma Ex Pleomorphic Adenoma of the Parotid Gland. Publication Status: Online-Only, [RefSeq, PubMed]; Increased Chymase-Positive Mast Cells in High-Grade Mucoepidermoid Carcinoma of the Parotid Gland. Publication Status: Online-Only, [RefSeq, PubMed]; Investigation into the Health Effects of Reduced Chymase Function Using Predicted Loss-of-Function Mutations in CMA1., [RefSeq, PubMed]; Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular matrix degradation, and regulation of gland secretion., [UniProtKB]; Recombinant SARS-CoV-2 Spike Protein Stimulates Secretion of Chymase, Tryptase, and IL-1beta from Human Mast Cells, Augmented by IL-33. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Alternative splicing results in multiple variants. [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": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 22, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B5BUM8;Q16018;Q3SY36;Q3SY37;Q9UDH5", "ec_number_list": [ { "id": "3.4.21.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.34", "type": "external" }, { "id": "3.4.24.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.7", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.4.21.37", "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": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.4.21.39", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.39", "type": "external" }, { "id": "3.4.21.59", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.59", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0042277 peptide binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule;GO:0031012 extracellular matrix;GO:0036464 cytoplasmic ribonucleoprotein granule", "go_biological_process": "GO:0022617 extracellular matrix disassembly;GO:0071333 cellular response to glucose stimulus;GO:0002003 angiotensin maturation;GO:0045766 positive regulation of angiogenesis;GO:0050727 regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "P23946-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P39059-1", "uniprot_id": [ { "id": "COFA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P39059", "type": "external" } ], "mass": 141720.0, "length": 1388, "protein_name": "Collagen alpha-1(XV) chain", "gene_name": "COL15A1", "organism": "Human", "refseq_name": "collagen alpha-1(XV) chain precursor", "refseq_ac": [ { "id": "NP_001846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001846", "type": "external" } ], "gene_names_uniprotkb": "COL15A1", "gene_names_refseq": "COL15A1", "protein_names_uniprotkb": "Collagen alpha-1(XV) chain; Endostatin-XV; Related to endostatin; Restin-III; Restin-II; Restin-IV; Restin-I", "protein_names_refseq": "collagen XV, alpha-1 polypeptide; collagen alpha-1(XV) chain precursor; collagen alpha-1(XV) chain; collagen type XV proteoglycan; collagen, type XV, alpha 1; endostatin-XV; restin", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); rheumatic heart disease (Disease Ontology:DOID:0050827); pre-malignant neoplasm (Disease Ontology:DOID:0060071); brain glioma (Disease Ontology:DOID:0060108); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); heart disease (Disease Ontology:DOID:114); osteoporosis (Disease Ontology:DOID:11476); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); leiomyoma (Disease Ontology:DOID:127); ataxia telangiectasia (Disease Ontology:DOID:12704); Huntington's disease (Disease Ontology:DOID:12858); dilated cardiomyopathy (Disease Ontology:DOID:12930); dementia (Disease Ontology:DOID:1307); abdominal obesity-metabolic syndrome 1 (Disease Ontology:DOID:14221); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); status epilepticus (Disease Ontology:DOID:1824); impotence (Disease Ontology:DOID:1875); post-traumatic stress disorder (Disease Ontology:DOID:2055); transient cerebral ischemia (Disease Ontology:DOID:224); colon adenocarcinoma (Disease Ontology:DOID:234); morphine dependence (Disease Ontology:DOID:2560); endometriosis (Disease Ontology:DOID:289); acute kidney failure (Disease Ontology:DOID:3021); teratoma (Disease Ontology:DOID:3307); middle cerebral artery infarction (Disease Ontology:DOID:3525); intermittent claudication (Disease Ontology:DOID:3669); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); lung non-small cell carcinoma (Disease Ontology:DOID:3908); myopathy (Disease Ontology:DOID:423); macular degeneration (Disease Ontology:DOID:4448); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); intestinal disease (Disease Ontology:DOID:5295); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); mitochondrial myopathy (Disease Ontology:DOID:699); thyroiditis (Disease Ontology:DOID:7166); osteoarthritis (Disease Ontology:DOID:8398); retinal degeneration (Disease Ontology:DOID:8466); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); toxoplasmosis (Disease Ontology:DOID:9965)", "pathway": " (hsa:1306); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-2022090); (R-HSA-8948216)", "pathway_count": 5, "publication_count": 123, "publication_id_list": "10049780;10479448;10551873;10596943;10791950;10809722;10934207;10966814;11013208;11119712;11577169;11927537;12473679;12475640;12482924;12579531;12646579;1279671;1323838;1400327;1427836;14500733;14602708;15005656;15044469;15257288;15265795;15698950;1577494;15837520;15950618;16591531;16825197;1704217;17088321;171650;18487197;18566446;18622425;19075007;19117535;19693541;2005102;20470363;21593211;2169335;21878990;21935455;21967573;22171320;22241472;22382088;2253219;2307289;25326458;2537292;2543975;2548603;2551898;25576301;25645385;27726376;28228285;2834383;2845110;29242379;29393594;29557506;29786170;3038863;30429286;30459171;30524438;30537732;31154438;31611695;3173483;31844290;31848261;32161166;3223920;32337544;32350084;32387766;32938616;33392160;33912179;33968037;34404755;35051231;35251023;35580925;36213313;36241641;37453717;37552025;37938771;38253038;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7890717;8106446;8207089;8307960;8463259;8576151;8920930;8999957;9008168;9054364;9092507;9545296;9560306;9582318;9651385;9651395;9856810", "class_list": "glycogene", "function": "Alveolar Vascular Remodeling in Nonspecific Interstitial Pneumonia: Replacement of Normal Lung Capillaries with COL15A1-Positive Endothelial Cells., [RefSeq, PubMed]; Restin potently inhibits angiogenesis., [UniProtKB]; Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle., [UniProtKB, PubMed]; TGF-beta2 and collagen play pivotal roles in the spheroid formation and anti-aging of human dermal papilla cells., [RefSeq, PubMed]; This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]., [RefSeq]; This study identified collagen XV as a new low O2 tension sensitive gene, and provided a novel mechanistic evidence that directly HIF-1alpha (hypoxia-inducible factor-1 alpha) mediates collagen XV expression in response to hypoxia, since it was found specifically in vivo recruited at collagen XV promoter, in hypoxia-preconditioned mesenchymal stromal cells., [RefSeq, PubMed]", "predicted_glycosites": 9, "predicted_n_glycosites": 6, "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": 4, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 19, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1993, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 51, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "Q5T6J4;Q9UDC5;Q9Y4W4", "ec_number_list": [], "go_molecular_function": "GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "P39059-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000011000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53420-1", "uniprot_id": [ { "id": "CO4A4_HUMAN", "url": "https://www.uniprot.org/uniprot/P53420", "type": "external" } ], "mass": 164038.0, "length": 1690, "protein_name": "Collagen alpha-4(IV) chain", "gene_name": "COL4A4", "organism": "Human", "refseq_name": "collagen alpha-4(IV) chain precursor", "refseq_ac": [ { "id": "NP_000083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000083", "type": "external" } ], "gene_names_uniprotkb": "COL4A4", "gene_names_refseq": "ATS2; BFH1; BFH; CA44; COL4A4", "protein_names_uniprotkb": "Collagen alpha-4(IV) chain", "protein_names_refseq": "Collagen IV, alpha-4 polypeptide; collagen alpha-4(IV) chain precursor; collagen alpha-4(IV) chain; collagen of basement membrane, alpha-4 chain; collagen, type IV, alpha 4", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); polycystic kidney disease (Disease Ontology:DOID:0080322); calcium oxalate nephrolithiasis (Disease Ontology:DOID:0080652); autosomal dominant hypocalcemia (Disease Ontology:DOID:0090109); Alport syndrome 2 (Disease Ontology:DOID:0110033); neurofibromatosis 1 (Disease Ontology:DOID:0111253); benign familial hematuria (Disease Ontology:DOID:0111365); progressive osseous heteroplasia (Disease Ontology:DOID:0111535); prostate cancer (Disease Ontology:DOID:10283); Alport syndrome (Disease Ontology:DOID:10983); vitamin K deficiency bleeding (Disease Ontology:DOID:11249); osteoporosis (Disease Ontology:DOID:11476); nephrotic syndrome (Disease Ontology:DOID:1184); Parkinson's disease (Disease Ontology:DOID:14330); cystic fibrosis (Disease Ontology:DOID:1485); calcinosis (Disease Ontology:DOID:182); myopathy (Disease Ontology:DOID:423); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); osteoarthritis (Disease Ontology:DOID:8398); collagen disease (Disease Ontology:DOID:854); Crohn's disease (Disease Ontology:DOID:8778); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetes insipidus (Disease Ontology:DOID:9409); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:1286); (R-HSA-1442490); (R-HSA-1566977); (R-HSA-1650814); (R-HSA-186797); (R-HSA-2022090); (R-HSA-216083); (R-HSA-2214320); (R-HSA-2243919); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-419037); (R-HSA-8948216); (R-HSA-9638630)", "pathway_count": 15, "publication_count": 286, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10049780;10209034;10339611;10366422;10438935;10479448;10508235;10543983;10551873;10593924;10596943;10605720;10640428;10673326;10673366;10713152;10809722;10811134;10934207;10966814;10982388;11013208;11054877;11084047;11119712;11158588;11237011;11259413;11313359;11518510;11572855;11577169;11713259;11739641;11847221;11927537;11961012;11964076;11980922;11986329;12193605;12211432;12225811;12237301;12369853;1237296;12473679;12475640;12482924;12496264;12538485;12579531;12585966;12631110;12646579;12682293;12765789;12807887;1311092;1323838;1348714;1376317;1400327;1429714;14500733;14602708;14715956;1484505;15005656;15044469;15075323;15207811;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;15615512;1567360;15713743;15767546;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16239428;16267048;16272566;16293224;16331269;1639841;16413178;16436588;16474853;16493581;16563355;16581764;16591531;16731529;16754661;16806867;16825197;16933105;1704217;17088321;171650;17339034;17367763;17588949;17604334;17943726;17968485;18059411;18487197;18559524;18599485;18622425;18710925;18775695;19075007;19502598;19564526;19615748;19693541;19729652;20033473;2005102;2010551;2045422;20470363;2059554;20690820;20705068;20813817;21251937;21376233;21593211;21642437;2169335;21789315;21878990;21935455;21967573;22134916;22241472;22382088;22493504;2253219;22539938;22842973;22884367;22933705;2307289;23374253;23583652;2364322;2412224;2420006;2430969;25328409;2537292;2543975;2548603;2551898;25597754;25645385;2809592;2834383;28435517;2845110;29093181;29137923;29263244;29408302;29777959;29786170;29964125;3038863;30389923;30429286;30524438;3082888;31085175;3173483;31844290;32157095;3223920;32938616;35051231;3595596;37895203;38214412;38217972;38433557;3872795;38978054;3905801;3938630;3992061;3997977;41816;5246001;5723342;6129847;6193777;6258630;6270089;6307276;641035;6439184;6643500;6694361;6809411;710450;7499434;7505120;7523402;7525578;7527058;7541634;7542249;7542669;7559467;7685013;7693733;7852349;7890717;7987396;8002934;8083201;8118028;8207089;8262246;8344274;8365481;8440685;8463259;8548560;8560266;8576151;8636146;8787673;8798654;8838667;8900172;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9195222;9245798;9251239;9252349;9294172;9334164;9341124;9346959;9398268;9443892;9470928;9537506;9545296;9560306;9565552;9582318;9645947;9651395;9659899;9659900;9685393;9739761;9792860;9856810;9858236;9949188", "class_list": "", "function": "Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic diagnosis of Alport syndrome in 16 Chinese families., [RefSeq, PubMed]; Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?, [RefSeq, PubMed]; Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; The multifaceted roles of COL4A4 in lung adenocarcinoma: An integrated bioinformatics and experimental study., [RefSeq, PubMed]; This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]., [RefSeq]; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 35, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 1, "disease_count": 25, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8MTZ1;Q53RW9;Q53S42;Q53WR1", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005201 extracellular matrix structural constituent;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005604 basement membrane;GO:0005587 collagen type IV trimer", "go_biological_process": "GO:0030199 collagen fibril organization;GO:0032836 glomerular basement membrane development", "synthesized_glycan_count": 0, "hit_score": 28.9, "record_id": "P53420-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62633-1", "uniprot_id": [ { "id": "CNBP_HUMAN", "url": "https://www.uniprot.org/uniprot/P62633", "type": "external" } ], "mass": 19463.0, "length": 177, "protein_name": "CCHC-type zinc finger nucleic acid binding protein", "gene_name": "CNBP", "organism": "Human", "refseq_name": "CCHC-type zinc finger nucleic acid binding protein isoform 1", "refseq_ac": [ { "id": "NP_001120664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120664", "type": "external" } ], "gene_names_uniprotkb": "CNBP; RNF163; ZNF9", "gene_names_refseq": "CNBP1; CNBP; DM2; PROMM; RNF163; ZCCHC22; ZNF9", "protein_names_uniprotkb": "CCHC-type zinc finger nucleic acid binding protein; CNBP; Cellular nucleic acid-binding protein; Zinc finger protein 9", "protein_names_refseq": "CCHC-type zinc finger nucleic acid binding protein isoform 1; cellular nucleic acid-binding protein; erythroid differentiation-related; sterol regulatory element-binding protein; zinc finger protein 273; zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)", "tax_id": 9606, "disease": "myotonic dystrophy type 2 (Disease Ontology:DOID:0050759)", "pathway": " (hsa:7555); (R-HSA-9705671)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "11237011;11486088;12019269;12692549;12759408;15208624;18991276;20068231;20305658;22941947;24129315;24726729;2562787;26992070;28329689;28832583;28904123;29242379;29393594;29493099;29557506;30192525;30429286;31154438;31530632;31844290;31850239;32157095;32353859;32357974;32387766;32428392;32589897;32726803;32728199;32938616;32953130;32979938;33024073;33060197;33097660;33110251;33214551;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33936100;33963333;33968037;33989516;33990585;34019948;34021074;34054808;34084167;34110168;34166398;34229054;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34597346;34725712;35102342;35580925;35643212;36459268;37051252;37963251;38553547;38626179;38665916;39080743;40307207;7590281", "class_list": "", "function": "Binds G-rich elements in target mRNA coding sequences (PubMed:28329689). Prevents G-quadruplex structure formation in vitro, suggesting a role in supporting translation by resolving stable structures on mRNAs (PubMed:28329689)., [UniProtKB, PubMed]; Binds to RNA., [UniProtKB, PubMed]; Cellular nucleic acid-binding protein restricts SARS-CoV-2 by regulating interferon and disrupting RNA-protein condensates., [RefSeq, PubMed]; CircPACRGL promoted cell proliferation, migration and invasion as well as inhibited cell apoptosis in colorectal cancer via regulation of the miR-330-3p/CNBP axis., [RefSeq, PubMed]; CircPRMT5 promotes progression of osteosarcoma by recruiting CNBP to regulate the translation and stability of CDK6 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; STAU1-mediated CNBP mRNA degradation by LINC00665 alters stem cell characteristics in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Single-stranded DNA-binding protein that preferentially binds to the sterol regulatory element (SRE) sequence 5'-GTGCGGTG-3', and thereby mediates transcriptional repression (PubMed:2562787). Has a role as transactivator of the Myc promoter (By similarity). Binds single-stranded RNA in a sequence-specific manner (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP). Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7V4;B2RAV9;B4DP17;D3DNB9;D3DNC0;D3DNC1;E9PDR7;P20694;Q4JGY0;Q4JGY1;Q5QJR0;Q5U0E9;Q6PJI7;Q96NV3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding;GO:0003727 single-stranded RNA binding;GO:0045182 translation regulator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:2000767 positive regulation of cytoplasmic translation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "P62633-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "D6REC4-1", "uniprot_id": [ { "id": "CFA99_HUMAN", "url": "https://www.uniprot.org/uniprot/D6REC4", "type": "external" } ], "mass": 74945.0, "length": 646, "protein_name": "Cilia- and flagella-associated protein 99", "gene_name": "CFAP99", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 99", "refseq_ac": [ { "id": "NP_001180211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180211", "type": "external" } ], "gene_names_uniprotkb": "CFAP99", "gene_names_refseq": "CFAP99", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 99", "protein_names_refseq": "cilia- and flagella-associated protein 99", "tax_id": 9606, "disease": "", "pathway": " (hsa:402160)", "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": "A0A0U1RQC7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031514 motile cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "D6REC4-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JM3-1", "uniprot_id": [ { "id": "CHAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JM3", "type": "external" } ], "mass": 89099.0, "length": 812, "protein_name": "Chromosome alignment-maintaining phosphoprotein 1", "gene_name": "CHAMP1", "organism": "Human", "refseq_name": "chromosome alignment-maintaining phosphoprotein 1", "refseq_ac": [ { "id": "NP_001157616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157616", "type": "external" } ], "gene_names_uniprotkb": "CHAMP1; C13orf8; CAMP; CHAMP; KIAA1802; ZNF828", "gene_names_refseq": "C13orf8; CAMP; CHAMP1; CHAMP; MRD40; NEDHILD; ZNF828", "protein_names_uniprotkb": "Chromosome alignment-maintaining phosphoprotein 1; Zinc finger protein 828", "protein_names_refseq": "chromosome alignment-maintaining phosphoprotein 1; zinc finger protein 828", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 40 (Disease Ontology:DOID:0070070)", "pathway": " (hsa:283489)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "11237011;15302935;17081983;17287340;17322306;17924679;18212344;18452278;18491316;18669648;18707149;19007248;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19691289;20058876;20068230;20068231;20166139;20850016;21063390;21406692;23186163;24275569;24714562;24715725;25218447;25505266;25533962;25576301;25772364;25810538;26154972;26340335;26992070;27846572;27862975;28904123;29351928;29437277;29493099;29557506;30429286;31217245;31844290;32119511;32157095;32357974;32387766;32502341;32574038;32897882;32938616;32983136;33141586;33214551;33298915;33633747;33912179;33936100;33968037;34019948;34021018;34107118;34171305;34211107;34509645;34561969;34846842;34932366;35051231;35289036;35580925;36044844;36284347;36658409;38665916;39531497;39534244;39894887;40596516", "class_list": "", "function": "CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair., [RefSeq, PubMed]; Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ. Publication Status: Online-Only, [RefSeq, PubMed]; Chromosome alignment-maintaining phosphoprotein CHAMP1 plays a role in cell survival through regulating Mcl-1 expression., [RefSeq, PubMed]; De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment., [RefSeq, PubMed]; Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1. Publication Status: Online-Only, [RefSeq, PubMed]; Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore., [UniProtKB, PubMed]; The study reports a novel protein involved in kinetochore-microtubule attachment, chromosome alignment-maintaining phosphoprotein (CAMP) (C13orf8, ZNF828)., [RefSeq, PubMed]; This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 60, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B3KU06;Q6P181;Q8NC88;Q9BST0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005819 spindle;GO:0016604 nuclear body;GO:0000793 condensed chromosome", "go_biological_process": "GO:0051315 attachment of mitotic spindle microtubules to kinetochore;GO:0034501 protein localization to kinetochore;GO:0031134 sister chromatid biorientation;GO:0035372 protein localization to microtubule", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q96JM3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNY4-1", "uniprot_id": [ { "id": "TTF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNY4", "type": "external" } ], "mass": 129588.0, "length": 1162, "protein_name": "Transcription termination factor 2", "gene_name": "TTF2", "organism": "Human", "refseq_name": "transcription termination factor 2", "refseq_ac": [ { "id": "NP_003585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003585", "type": "external" } ], "gene_names_uniprotkb": "TTF2", "gene_names_refseq": "HuF2; TTF2; ZGRF6", "protein_names_uniprotkb": "Transcription termination factor 2; 3.6.4.-; F2; HuF2; Lodestar homolog; RNA polymerase II termination factor; Transcription release factor 2", "protein_names_refseq": "RNA polymerase II termination factor; human factor 2; lodestar homolog; lodestar protein; transcription release factor 2; transcription termination factor 2; transcription termination factor, RNA polymerase II; zinc finger, GRF-type containing 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:8458)", "pathway_count": 1, "publication_count": 98, "publication_id_list": "10.1101/2023.09.13.557529;10455150;11237011;12927788;15125840;15467445;17924679;18669648;18691976;18991276;19664994;20068231;20934997;22645359;23186163;23481700;24714562;24715725;25418920;25505266;25576301;25645385;26024233;26154972;26375851;26728094;26768311;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;30192525;30315122;30379171;30410026;30429286;30524438;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37217939;37938771;9748214", "class_list": "", "function": "DsDNA-dependent ATPase which acts as a transcription termination factor by coupling ATP hydrolysis with removal of RNA polymerase II from the DNA template. May contribute to mitotic transcription repression. May also be involved in pre-mRNA splicing., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; HLodestar/HuF2 interacts with CDC5L and is involved in pre-mRNA splicing, [RefSeq, PubMed]; Importantly, the mitotic phenotype seen with TTF2-siRNA is rescued by expression of the siRNA-resistant GFP-tagged TTF2 proving that reduced TTF2 is responsible for the retention of RNA polymerase II on mitotic chromosomes., [RefSeq, PubMed]; TTF2 is the only ATP-dependent termination activity associated with Pol II transcription elongation complexes, is largely unaffected by template position, and is impervious to the phosphorylation state of the polymerase., [RefSeq, PubMed]; This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K4Q2;O75921;Q5T2K7;Q5VVU8;Q8N6I8", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016887 ATP hydrolysis activity;GO:0008094 ATP-dependent activity, acting on DNA", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0008023 transcription elongation factor complex;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0006281 DNA repair;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0006353 DNA-templated transcription termination;GO:0006369 termination of RNA polymerase II transcription", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9UNY4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01871-2", "uniprot_id": [ { "id": "IGHM_HUMAN", "url": "https://www.uniprot.org/uniprot/P01871", "type": "external" } ], "mass": 51924.0, "length": 474, "protein_name": "Immunoglobulin heavy constant mu", "gene_name": "IGHM", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHM", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy constant mu; Ig mu chain C region BOT; Ig mu chain C region GAL; Ig mu chain C region OU; Ig mu chain C region", "protein_names_refseq": "", "tax_id": 9606, "disease": "agammaglobulinemia 1 (Disease Ontology:DOID:0081136); agammaglobulinemia (Disease Ontology:DOID:2583); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (R-HSA-202733); (R-HSA-5690714); (R-HSA-9679191); (R-HSA-983695)", "pathway_count": 4, "publication_count": 224, "publication_id_list": "37268159;10051622;10087012;10432293;10498607;10556826;10606205;10648173;10706702;10764623;10770799;1081164;10816579;10871054;10880360;10983984;11042164;11071869;11207550;11226282;11256994;11340299;11449366;11564780;11587642;11606584;11779189;11812992;11901194;11909947;11994425;12070135;12181444;12208882;12453414;12456653;12469115;12573241;12782713;12847249;1372019;1374290;1375264;1376928;14529530;14615387;1472500;14760718;15000751;15161916;15187135;1550550;15509800;15528364;15681301;15721307;1591491;15955802;1599430;16115318;16258728;16297198;16408005;16422668;16522641;16585556;16691243;16737840;16783819;16849466;16895553;16906149;1702903;1705565;17064312;17099249;17116209;17167768;17172599;17224452;17322099;17379836;17442946;17452328;17452516;17486119;17505016;17525755;17563375;17576170;17580308;17600130;17615384;17625065;17662961;18006696;18025150;18052078;18187424;18326500;18420269;18514042;18596693;18818202;18843204;18995841;19006321;19139490;19159218;19206206;19249086;19279206;19372136;2011584;20176268;20192804;20223979;2115996;21193412;21408196;21469132;21659548;21822214;22158414;22180443;22210847;22401777;22552008;22814904;2303036;2304550;23090970;23641311;23836650;23945545;24043627;24190977;24272870;24530628;24584101;24706782;24764293;24766575;24841998;2505237;2538457;25576301;25801024;25802287;26002965;26510530;26992070;28230186;28314751;28425720;29242379;29391424;29671580;29741879;29945920;29992770;30201761;30237853;30315122;30324136;30659065;31048504;3137579;32029689;32125861;3500860;35981043;36949194;37095205;38253038;4589993;468991;4742735;4803843;6335036;6425189;6777162;6777778;6795593;7509040;7521878;7524079;7528218;7538118;7561031;7592958;7618087;7687428;7687539;7688784;7691807;7706301;7927516;803528;8163536;8163559;8166770;8306975;8314844;8475064;8890099;8947047;9052782;9169774;9235916;9242610;9295288;9326643;9341187;9382878;9382888;9480991;9547345;9601638;9693095;9697839;9705962;9763524;9890995", "class_list": "", "function": "Constant region of immunoglobulin heavy chains. 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]; Constant region of membrane-bound IgM, part of the B cell receptor complex (BCR). IgM BCR provides constitutive tonic signaling for B cell survival. Mediates pre-BCR signaling that regulates B cell selection and rearrangement of Ig genes via allelic exclusion., [UniProtKB, UniProtKB, PubMed]; Constant region of secreted IgM (sIgM), also known as the Fc region of IgM antibody. Able to multimerize, forms high order polymers, mainly pentamers and occasionally hexamers, providing for multivalency and high avidity recognition of antigens (PubMed:32029689, PubMed:37095205). Natural sIgM are polyreactive and recognize conserved self- and pathogen-derived structures, whereas immune sIgM are secreted only upon exposure to pathogens and are antigen-specific. Both natural and immune sIgM are required for an efficient humoral immune response to infection (By similarity). Mediates sIgM effector functions mostly via Fc receptors and the complement system. On lymphoid cells binds high-affinity Fc receptor FCMR and promotes induction of an efficient neutralizing IgG response while maintaining tolerance to self-antigens. Recruits C1q complement component to initiate the classical complement pathway, facilitating the recognition and neutralization of pathogens by the host. Together with C1q and mannose-binding lectin promotes the phagocytosis of apoptotic cells by macrophages, ensuring the clearance of potential autoimmune epitopes from tissues (By similarity) (PubMed:12847249, PubMed:19006321, PubMed:28230186, PubMed:32029689). Involved in mucosal immunity. It is transported by transcytosis across mucosal epithelium by PIGR and secreted on the apical side in complex with PIGR secretory component to scan mucosal lining for pathogens. IgM-antigen complexes undergo FCMR-mediated retrotranscytosis across mucosal M cells toward antigen-presenting cells in mucosal lymphoid tissues (By similarity) (PubMed:32029689)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 9, "reported_phosphosites": 0, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 202, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A0A075B6N9;A0A0G2JQL4;P04220;P20769", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 43.5, "record_id": "P01871-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDW5-1", "uniprot_id": [ { "id": "SYTL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDW5", "type": "external" } ], "mass": 81523.0, "length": 730, "protein_name": "Synaptotagmin-like protein 5", "gene_name": "SYTL5", "organism": "Human", "refseq_name": "synaptotagmin-like protein 5 isoform 2", "refseq_ac": [ { "id": "NP_001156806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156806", "type": "external" } ], "gene_names_uniprotkb": "SYTL5; SLP5", "gene_names_refseq": "SYTL5; slp5", "protein_names_uniprotkb": "Synaptotagmin-like protein 5", "protein_names_refseq": "exophilin 9; synaptotagmin-like protein 5 isoform 2; synaptotagmin-like protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:94122)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1101/2023.09.13.557529;12051743;16630545;27846572;28218747;28904123;30429286;31530632;32357974;35580925;36378561", "class_list": "", "function": "May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids., [UniProtKB]; Molecular cloning of slp5:a novel Rab27A effector with C-terminal tandem C2 domains GeneRIF: Synaptotagmin-like protein 5 (Slp5) contains an N-terminal Slp homology domain (SHD) (PMID: 11327731). The SHD of Slp5 specifically and directly binds the GTP-bound form of Rab27A., [RefSeq, PubMed]; SYTL5 Promotes Papillary Thyroid Carcinoma Progression by Enhancing Activation of the NF-kappaB Signaling Pathway., [RefSeq, PubMed]; The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]; These observations decisively prove that Rab27a inhibits ENaC function through a complex mechanism that involves GTP/GDP status, and protein-protein interactions involving Munc13-4 and SLP-5 effector proteins., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A2RRF2", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0008270 zinc ion binding;GO:0031267 small GTPase binding;GO:0042043 neurexin family protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070382 exocytic vesicle", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8TDW5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96C24-1", "uniprot_id": [ { "id": "SYTL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96C24", "type": "external" } ], "mass": 76024.0, "length": 671, "protein_name": "Synaptotagmin-like protein 4", "gene_name": "SYTL4", "organism": "Human", "refseq_name": "synaptotagmin-like protein 4 isoform 1", "refseq_ac": [ { "id": "NP_001123368", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123368", "type": "external" } ], "gene_names_uniprotkb": "SYTL4", "gene_names_refseq": "SLP4; SYTL4", "protein_names_uniprotkb": "Synaptotagmin-like protein 4; Exophilin-2; Granuphilin", "protein_names_refseq": "exophilin-2; granuphilin-a; synaptotagmin-like protein 4 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:94121); (R-HSA-114608)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "11773082;1435334;14630798;15297306;17081983;18088087;18452278;18669648;23186163;23640497;24275569;26154972;27846572;28228285;29393594;29557506;30192525;31039795;31844290;32387766;32502341;33042263;33277360;33592498;33968037;35051231;35580925;36241641;37938771;6457647;8467233", "class_list": "", "function": "Modulates exocytosis of dense-core granules and secretion of hormones in the pancreas and the pituitary. Interacts with vesicles containing negatively charged phospholipids in a Ca(2+)-independent manner (By similarity)., [UniProtKB]; Multivalent lipid targeting by the calcium-independent C2A domain of synaptotagmin-like protein 4/granuphilin., [RefSeq, PubMed]; SYTL4 downregulates microtubule stability and confers paclitaxel resistance in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Synaptotagmin-like protein 4 (Slp4)/granuphilin-a contains an N-terminal Slp homology domain (SHD) (PMID: 11327731). The SHD of Slp4 specifically and directly binds the GTP-bound form of Rab3A, Rab8, and Rab27A., [RefSeq, PubMed]; This gene encodes a member of the synaptotagmin like protein family. Members of this family are characterized by an N-terminal Rab27 binding domain and C-terminal tandem C2 domains. The encoded protein binds specific small Rab GTPases and is involved in intracellular membrane trafficking. This protein binds Rab27 and may be involved in inhibiting dense core vesicle exocytosis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "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": "Q5H9J3;Q5JPG8;Q8N9P4;Q9H4R0;Q9H4R1", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0008270 zinc ion binding;GO:0031267 small GTPase binding;GO:0042043 neurexin family protein binding", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0030658 transport vesicle membrane;GO:0031092 platelet alpha granule membrane;GO:0070382 exocytic vesicle", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0071985 multivesicular body sorting pathway;GO:0006886 intracellular protein transport;GO:0050714 positive regulation of protein secretion;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q96C24-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WZ59-1", "uniprot_id": [ { "id": "TM190_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WZ59", "type": "external" } ], "mass": 19457.0, "length": 177, "protein_name": "Transmembrane protein 190", "gene_name": "TMEM190", "organism": "Human", "refseq_name": "transmembrane protein 190 precursor", "refseq_ac": [ { "id": "NP_631911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_631911", "type": "external" } ], "gene_names_uniprotkb": "TMEM190; MDAC1", "gene_names_refseq": "MDAC1; TMEM190", "protein_names_uniprotkb": "Transmembrane protein 190", "protein_names_refseq": "transmembrane protein 190 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:147744)", "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": 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": "A6NJL5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0002079 inner acrosomal membrane", "go_biological_process": "GO:0002244 hematopoietic progenitor cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8WZ59-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q63HK5-1", "uniprot_id": [ { "id": "TSH3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q63HK5", "type": "external" } ], "mass": 118566.0, "length": 1081, "protein_name": "Teashirt homolog 3", "gene_name": "TSHZ3", "organism": "Human", "refseq_name": "teashirt homolog 3", "refseq_ac": [ { "id": "NP_065907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907", "type": "external" } ], "gene_names_uniprotkb": "TSHZ3; KIAA1474; TSH3; ZNF537", "gene_names_refseq": "TSH3; TSHZ3; ZNF537", "protein_names_uniprotkb": "Teashirt homolog 3; Zinc finger protein 537", "protein_names_refseq": "teashirt family zinc finger 3; teashirt homolog 3; zinc finger protein 537", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:57616)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11230166;11237011;18776146;19343227;19413330;19664995;19745106;20877624;21406692;27600516;27668656;27846572;28780604;28834231;29557506;30059200;30429286;31060802;31844290;32162841;32938616;32938750;33592498;33968037;34405274;34932366;35051231;35138101;35318648;37541260;38665916", "class_list": "", "function": "Mutations in TSHZ2 and TSHZ3 are not a major cause of pelvi-ureteric junction obstruction, at least in Albanian and Macedonian populations. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; That miR-338-5p has a function in promoting glioma cell invasion by targeting TSHZ3 suppression on MMP2, [RefSeq, PubMed]; The study reveals a crucial postnatal role of TSHZ3 in the development and functioning of the corticostriatal circuitry and provides evidence that dysfunction in these circuits might be determinant for autism spectrum disorder pathogenesis., [RefSeq, PubMed]; This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]., [RefSeq]; Transcriptional regulator involved in developmental processes. Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter (By similarity). Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation (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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 78, "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": "A1L0U7;Q9H0G6;Q9P254", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0030426 growth cone;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0002087 regulation of respiratory gaseous exchange by nervous system process;GO:0045892 negative regulation of DNA-templated transcription;GO:0051968 positive regulation of synaptic transmission, glutamatergic", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q63HK5-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98187-1", "uniprot_id": [ { "id": "CP4F8_HUMAN", "url": "https://www.uniprot.org/uniprot/P98187", "type": "external" } ], "mass": 59995.0, "length": 520, "protein_name": "Cytochrome P450 4F8", "gene_name": "CYP4F8", "organism": "Human", "refseq_name": "cytochrome P450 4F8", "refseq_ac": [ { "id": "NP_009184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009184", "type": "external" } ], "gene_names_uniprotkb": "CYP4F8", "gene_names_refseq": "CPF8; CYP4F8; CYPIVF8", "protein_names_uniprotkb": "Cytochrome P450 4F8; 1.14.14.1; CYPIVF8", "protein_names_refseq": "cytochrome P450 4F8; cytochrome P450, family 4, subfamily F, polypeptide 8; cytochrome P450, subfamily IVF, polypeptide 8; flavoprotein-linked monooxygenase; microsomal monooxygenase", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); hypertension (Disease Ontology:DOID:10763); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); multiple sclerosis (Disease Ontology:DOID:2377); bipolar disorder (Disease Ontology:DOID:3312); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:11283); (R-HSA-211935); (R-HSA-211979); (R-HSA-2142691)", "pathway_count": 4, "publication_count": 59, "publication_id_list": "10064732;10405341;10779545;10791960;11162607;11237011;11844797;12464258;1359745;15006160;15604543;15789615;16112640;16436457;16795963;18184802;1848634;18647347;19343046;19743890;20436887;21281786;21447318;23076889;27046942;2753893;2768222;2836406;2864155;2866075;2877850;2882965;29133059;29557506;2995393;3006030;3020588;30669;3118366;3164719;32869209;34171305;35580925;3563417;3933675;6122208;6293969;6490615;7937884;8052639;8394361;8576264;8631948;8913342;8914854;9461497;9539102;9600267;9799565", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of endogenous polyunsaturated fatty acids (PUFAs) and their oxygenated derivatives (oxylipins). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes the hydroxylation of carbon hydrogen bonds, with preference for omega-1 and omega-2 positions (PubMed:10791960, PubMed:15789615, PubMed:16112640). Hydroxylates (5Z,8Z,11Z,14Z)-eicosatetraenoic acid (arachidonate) predominantly at omega-2 position to form (18R)-hydroxyeicosatetraenoic acid (18R-HETE) (PubMed:10791960). Exhibits omega-1 hydroxylase activity toward prostaglandin (PG) H1, PGH2 and PGI2 (PubMed:10791960, PubMed:15789615). Catalyzes the epoxidation of double bonds of PUFAs, including docosahexaenoic and docosapentaenoic acids (PubMed:16112640). Shows little activity against PGD2, PGE1, PGE2, PGF2alpha, and leukotriene B4., [UniProtKB, PubMed, PubMed, PubMed]; New Proluciferin Substrates for Human CYP4 Family Enzymes., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The PLA2G7, HPGD, EPHX2, and CYP4F8 genes are highly expressed in prostate cancer., [RefSeq, PubMed]; This gene, CYP4F8, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. [provided by RefSeq, Jul 2008]., [RefSeq]; We conclude that CYP4F8 and CYP4F12 catalyze epoxidation of 22:6n-3 and 22:5n-3, and CYP4F8 omega3-hydroxylation of 22:5n-6., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "1.14.13.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.n7", "type": "external" }, { "id": "1.14.14.55", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.55", "type": "external" }, { "id": "1.14.14.56", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.56", "type": "external" }, { "id": "1.14.14.73", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.73", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.14.14.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.51", "type": "external" }, { "id": "1.14.14.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.52", "type": "external" }, { "id": "1.14.14.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.53", "type": "external" }, { "id": "1.14.14.75", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.75", "type": "external" }, { "id": "1.14.14.78", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.78", "type": "external" }, { "id": "1.14.14.79", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.79", "type": "external" }, { "id": "1.14.14.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.94", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "type": "external" }, { "id": "1.14.14.177", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.177", "type": "external" }, { "id": "1.14.14.130", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.130", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;GO:0004497 monooxygenase activity;GO:0018685 alkane 1-monooxygenase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006690 icosanoid metabolic process;GO:0006693 prostaglandin metabolic process;GO:0042376 phylloquinone catabolic process;GO:0019369 arachidonate metabolic process;GO:0042361 menaquinone catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P98187-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M20-1", "uniprot_id": [ { "id": "CNBD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M20", "type": "external" } ], "mass": 67512.0, "length": 576, "protein_name": "Cyclic nucleotide-binding domain-containing protein 2", "gene_name": "CNBD2", "organism": "Human", "refseq_name": "cyclic nucleotide-binding domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001194005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001194005", "type": "external" } ], "gene_names_uniprotkb": "CNBD2; C20orf152", "gene_names_refseq": "C20orf152; CNBD2; CNMPD1", "protein_names_uniprotkb": "Cyclic nucleotide-binding domain-containing protein 2", "protein_names_refseq": "cyclic nucleotide (cNMP) binding domain containing 1; cyclic nucleotide-binding domain-containing protein 2 isoform 2; cyclic nucleotide-binding domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:140894)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;23481700;36010968", "class_list": "", "function": "Essential for male fertility. Plays an important role in spermatogenesis and regulates sperm motility by controlling the development of the flagellar bending of sperm., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q14C79;Q5JWY7;Q5T3S1;Q9BR36;Q9BWY5", "ec_number_list": [], "go_molecular_function": "GO:0030552 cAMP binding", "go_cellular_component": "GO:0005829 cytosol;GO:0097225 sperm midpiece", "go_biological_process": "GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96M20-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02765-1", "uniprot_id": [ { "id": "FETUA_HUMAN", "url": "https://www.uniprot.org/uniprot/P02765", "type": "external" } ], "mass": 39341.0, "length": 367, "protein_name": "Alpha-2-HS-glycoprotein", "gene_name": "AHSG", "organism": "Human", "refseq_name": "alpha-2-HS-glycoprotein isoform 2 preproprotein", "refseq_ac": [ { "id": "NP_001613", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001613", "type": "external" } ], "gene_names_uniprotkb": "AHSG; FETUA; PRO2743", "gene_names_refseq": "A2HS; AHSG; AHS; APMR1; FETUA; HSGA", "protein_names_uniprotkb": "Alpha-2-HS-glycoprotein; Alpha-2-Z-globulin; Ba-alpha-2-glycoprotein; Fetuin-A", "protein_names_refseq": "alpha-2-HS-glycoprotein isoform 2 preproprotein; alpha-2-Z-globulin; ba-alpha-2-glycoprotein; fetuin-A", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); alopecia-mental retardation syndrome (Disease Ontology:DOID:0080627); alopecia-mental retardation syndrome 1 (Disease Ontology:DOID:0080628); gestational diabetes (Disease Ontology:DOID:11714); coronary artery disease (Disease Ontology:DOID:3393); myocardial infarction (Disease Ontology:DOID:5844); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:197); (R-HSA-114608); (R-HSA-381426); (R-HSA-6798695); (R-HSA-8957275)", "pathway_count": 5, "publication_count": 154, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11415520;11439093;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12665801;12754519;12810533;12904166;1370451;1383255;1435334;1457416;14630798;14760718;15126567;15297306;15308688;15469690;15485880;15525596;15642270;16335952;16740002;17047378;17249697;17312271;17985932;18088087;18212344;18318008;18491316;18514042;18669648;19007248;19139490;19159218;19415658;19562805;19664994;19824718;19838169;20166139;20187088;21081667;22171320;23186163;23584533;23640497;23650620;24275569;24417605;24530628;2476804;2479552;24841998;26091039;2645941;26598643;27452731;2760061;27726376;28035807;28054173;28832583;29314611;29391424;29393594;29557506;29632711;29671580;29741879;29789417;29992770;30192525;30237853;30429286;30444036;30459171;31611695;31844290;32125861;32157095;32357974;33912179;34171305;34357683;34561969;34725484;3474608;35051231;35459695;35494241;35580925;36215666;36284347;37074911;37340703;37535244;37994275;38052855;38096518;38665916;39337398;3944104;6457647;6833285;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8467233;8692836;8781553;8817670;8894645;8964575;9003486;9322749;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "AHSG, a Gene Promoting Tumour Proliferation, Migration and Invasion, is an Independent Prognostic Factor for Poor Overall Survival in Lung Adenocarcinoma., [RefSeq, PubMed]; EVALUATION OF FETUIN-A LEVEL IN POLYCYSTIC OVARY SYNDROME AND ITS ASSOCIATION WITH ASPROSIN AND SOME BIOCHEMICAL PARAMETERS., [RefSeq, PubMed]; Enhanced Association of Novel Cardiovascular Biomarkers Fetuin-A and Catestatin with Serological and Inflammatory Markers in Rheumatoid Arthritis Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Evaluation of atherosclerotic risk in rosacea patients through serum fetuin-A and carotid intima media thickness., [RefSeq, PubMed]; Fetuin-A and its genetic association with cardiometabolic disease. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 4, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 182, "disease_count": 8, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "A8K9N6;B2R7G1;O14961;O14962;Q9P152", "ec_number_list": [], "go_molecular_function": "GO:0004866 endopeptidase inhibitor activity;GO:0004869 cysteine-type endopeptidase inhibitor activity;GO:0019210 kinase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0031012 extracellular matrix", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0006953 acute-phase response;GO:0001501 skeletal system development;GO:0050727 regulation of inflammatory response;GO:0050766 positive regulation of phagocytosis", "synthesized_glycan_count": 0, "hit_score": 35.3, "record_id": "P02765-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY35-1", "uniprot_id": [ { "id": "CLDN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY35", "type": "external" } ], "mass": 28603.0, "length": 253, "protein_name": "Claudin domain-containing protein 1", "gene_name": "CLDND1", "organism": "Human", "refseq_name": "claudin domain-containing protein 1 isoform a", "refseq_ac": [ { "id": "NP_001035271", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035271", "type": "external" } ], "gene_names_uniprotkb": "CLDND1; C3orf4; HSPC174; PRO6000; PSEC0054", "gene_names_refseq": "C3orf4; CLDN-25; CLDND1; GENX-3745; Z38", "protein_names_uniprotkb": "Claudin domain-containing protein 1; Claudin-25; Membrane protein GENX-3745", "protein_names_refseq": "claudin domain containing 1 protein; claudin domain-containing protein 1 isoform a; claudin domain-containing protein 1; claudin-25; membrane protein GENX-3745", "tax_id": 9606, "disease": "", "pathway": " (hsa:56650)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11752456;12036590;12975309;16303743;17316888;19349973;21276448;24190977;25880248;26083392;26992070;28063628;28130419;28218747;28244141;28832583;28834231;28849012;28904123;29242379;29314611;29393594;29437277;29493099;29632046;29741879;30315122;30410026;30429286;30573663;30779550;31154438;31217245;31611695;31844290;32157095;32265295;32350084;32897882;33037622;33592498;33912179;33936100;34357683;34433824;34932366;35051231;35154160;35580925;36241641;36284347;37074911;37938771;38493358", "class_list": "", "function": "A cDNA library consisting of 220 upregulated genes in tumour tissue was established and named as LSCC. Differential expression was confirmed in five of these genes, including IGFBP5, SQLE, RAP2B, CLDN1, and TBL1XR1., [RefSeq, PubMed]; CLDND1 as a novel survival factor in basal-like breast cancer cell lines Publication Status: Online-Only, [RefSeq, PubMed]; Findings strongly suggest that CLDND1 is a direct RORalpha target, [RefSeq, PubMed]; Plays a role in negatively regulating the permeability of cells to small molecules., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Suggest that the transient decrease of CLDND1 after cerebellar hemorrhage is responsible for low-molecular-weight selective vascular hyperpermeability, [RefSeq, PubMed]; Transcription of CLDND1 in human brain endothelial cells is regulated by the myeloid zinc finger 1., [RefSeq, PubMed]; Z38 was overexpressed in clinical patients with RCC and was associated with RCC stage. Knockdown of Z38 in A498 and ACHIN cells inhibited cell proliferation and metastasis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 8, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KQR1;D3DN36;F2Z2D9;Q502Y8;Q6UVX2;Q9BUZ9;Q9NZZ5;Q9Y4S9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005923 bicellular tight junction;GO:0009986 cell surface;GO:0016324 apical plasma membrane;GO:0016020 membrane;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9NY35-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1P7-1", "uniprot_id": [ { "id": "CRBG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1P7", "type": "external" } ], "mass": 177913.0, "length": 1661, "protein_name": "Beta/gamma crystallin domain-containing protein 2", "gene_name": "CRYBG2", "organism": "Human", "refseq_name": "beta/gamma crystallin domain-containing protein 2", "refseq_ac": [ { "id": "NP_001034864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034864", "type": "external" } ], "gene_names_uniprotkb": "CRYBG2; AIM1L", "gene_names_refseq": "AIM1L; CRYBG2", "protein_names_uniprotkb": "Beta/gamma crystallin domain-containing protein 2; Absent in melanoma 1-like protein", "protein_names_refseq": "absent in melanoma 1 like; absent in melanoma 1-like protein; beta-gamma crystallin domain containing 2; beta/gamma crystallin domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55057)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;17672918;30379171;31844290;34130591", "class_list": "glycogene", "function": "Absent in melanoma 1-like (AIM1L) serves as a novel candidate for overall survival in hepatocellular carcinoma., [RefSeq, PubMed]; The apparent occurrence of an unusual TG 3' splice site in intron 2 is critically discussed., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2087, "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": "B2RNG3;Q5T137;Q5T150", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8N1P7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FN4-1", "uniprot_id": [ { "id": "CPNE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FN4", "type": "external" } ], "mass": 61190.0, "length": 548, "protein_name": "Copine-2", "gene_name": "CPNE2", "organism": "Human", "refseq_name": "copine-2", "refseq_ac": [ { "id": "NP_689940", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689940", "type": "external" } ], "gene_names_uniprotkb": "CPNE2", "gene_names_refseq": "COPN2; CPN2; CPNE2", "protein_names_uniprotkb": "Copine-2; Copine II", "protein_names_refseq": "copine II; copine-2", "tax_id": 9606, "disease": "common variable immunodeficiency 6 (Disease Ontology:DOID:0081149)", "pathway": " (hsa:221184)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;12949241;20058876;20381070;22544926;25505266;25576301;25880248;26992070;27600516;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29786170;30429286;30524438;30779550;30833945;31154438;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33912179;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;35051231;35318648;35580925;36010968;36241641;36284347;37217939;37938771", "class_list": "", "function": "Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Exhibits calcium-dependent cell membrane binding properties., [UniProtKB, UniProtKB]; This protein has been found differentially expressed in the anterior cingulate cortex in women 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": 2, "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": "Q68D19;Q719H8;Q86XP9", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0071277 cellular response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q96FN4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16383-1", "uniprot_id": [ { "id": "GCFC2_HUMAN", "url": "https://www.uniprot.org/uniprot/P16383", "type": "external" } ], "mass": 89385.0, "length": 781, "protein_name": "Intron Large complex component GCFC2", "gene_name": "GCFC2", "organism": "Human", "refseq_name": "intron Large complex component GCFC2 isoform 2", "refseq_ac": [ { "id": "NP_001188263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188263", "type": "external" } ], "gene_names_uniprotkb": "GCFC2; C2orf3; GCF; TCF9", "gene_names_refseq": "C2orf3; DNABF; GCFC2; GCF; TCF9", "protein_names_uniprotkb": "Intron Large complex component GCFC2; GC-rich sequence DNA-binding factor 2; GC-rich sequence DNA-binding factor; TCF-9; Transcription factor 9", "protein_names_refseq": "GC binding factor; GC bindng factor; TCF-9; intron Large complex component GCFC2 isoform 2; intron Large complex component GCFC2; transcription factor 9 (binds GC-rich sequences)", "tax_id": 9606, "disease": "", "pathway": " (hsa:6936); (R-HSA-72163)", "pathway_count": 2, "publication_count": 119, "publication_id_list": "10500253;10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;15302935;16314458;16809785;17081983;17095540;17309879;17322306;17332742;17606899;18322460;18452278;18593880;18669648;18767875;19103666;19165350;19413330;19536130;19651622;19690332;20068231;20423332;20846247;20980672;21406692;21536652;2176635;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23301498;23345524;24196718;24275569;24304693;24448447;24737827;24914973;25555158;2556218;2558966;26385511;26420826;26915404;26969736;27377154;27459055;27683217;27920218;28062851;28076346;28502770;28781166;28832583;29242379;29301961;29360106;29361316;29437277;2963332;30315277;30524438;30705154;30728453;30765414;30975767;31409651;31844290;32157095;32179686;32329775;32387766;32494006;32897882;32938616;33243851;33392160;33446560;33717175;33912179;33968037;33981976;34301950;34509645;34822310;34932366;35318648;35385551;35561310;36284347;3757028;40307207;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Authors propose the GCF regulated transcriptional activity, at least in part, contributed to the upregulation of IER5 on radiation in HepG2 cells. The present findings provide insights into understanding the regulatory mechanisms of IER5., [RefSeq, PubMed]; C2ORF3 protein is required for pre-mRNA splicing through its presumable role in efficient intron turnover, [RefSeq, PubMed]; Involved in pre-mRNA splicing through regulating spliceosome C complex formation (PubMed:24304693). May play a role during late-stage splicing events and turnover of excised introns (PubMed:24304693)., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor 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": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4UHQ8;A4UHQ9;O95032;Q53TY0;Q6P2F2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0071008 U2-type post-mRNA release spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0000245 spliceosomal complex assembly", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "P16383-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00470-1", "uniprot_id": [ { "id": "MEIS1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00470", "type": "external" } ], "mass": 43016.0, "length": 390, "protein_name": "Homeobox protein Meis1", "gene_name": "MEIS1", "organism": "Human", "refseq_name": "homeobox protein Meis1", "refseq_ac": [ { "id": "NP_002389", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002389", "type": "external" } ], "gene_names_uniprotkb": "MEIS1", "gene_names_refseq": "MEIS1", "protein_names_uniprotkb": "Homeobox protein Meis1", "protein_names_refseq": "Meis1, myeloid ecotropic viral integration site 1 homolog; WUGSC:H_NH0444B04.1; homeobox protein Meis1; leukemogenic homolog protein", "tax_id": 9606, "disease": "restless legs syndrome (Disease Ontology:DOID:0050425); heart disease (Disease Ontology:DOID:114); leukemia (Disease Ontology:DOID:1240); restless legs syndrome, susceptibility to, 7 (MONDO:MONDO:0013022)", "pathway": " (hsa:4211); (R-HSA-5617472)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10777502;11237011;12609849;15867264;16079151;16549775;17081983;17185360;17428788;1756725;17660710;17713478;17761849;17851529;18452278;18781158;19115252;19232136;19620614;19651622;19747919;1975088;19782034;19799567;19854132;20085832;22569366;22705304;22879880;23219899;23301498;23534758;23630040;24174538;24312487;24586203;25101834;25135475;25576301;2570724;25913784;26550823;26992070;27846572;29557506;32157095;34948208;35289036;35351858;35624144;35805969;37938771;38665916;38824221;7488013;7501971;7831296;7906964;7908827;8674428;8759021;9218805;9226379;9272954;9482740", "class_list": "", "function": "3D Chromatin Organization Involving MEIS1 Factor in the cis-Regulatory Landscape of GJB2. Publication Status: Online-Only, [RefSeq, PubMed]; Acts as a transcriptional regulator of PAX6. Acts as a transcriptional activator of PF4 in complex with PBX1 or PBX2. Required for hematopoiesis, megakaryocyte lineage development and vascular patterning. May function as a cofactor for HOXA7 and HOXA9 in the induction of myeloid leukemias., [UniProtKB, PubMed]; Disparity of gene expression in coronary artery disease: insights from MEIS1, HIRA, and Myocardin. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of MEIS1 mediated by ELFN1-AS1/EZH2/DNMT3a axis promotes tumorigenesis and oxaliplatin resistance in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Elucidating the importance and regulation of key enhancers for human MEIS1 expression., [RefSeq, PubMed]; Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. [provided by RefSeq, Jul 2008]., [RefSeq]; The Small-Molecule Wnt Inhibitor ICG-001 Efficiently Inhibits Colorectal Cancer Stemness and Metastasis by Suppressing MEIS1 Expression. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MV50", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0001525 angiogenesis;GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "O00470-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46934-1", "uniprot_id": [ { "id": "NEDD4_HUMAN", "url": "https://www.uniprot.org/uniprot/P46934", "type": "external" } ], "mass": 149114.0, "length": 1319, "protein_name": "E3 ubiquitin-protein ligase NEDD4", "gene_name": "NEDD4", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase NEDD4 isoform 3", "refseq_ac": [ { "id": "NP_001271267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271267", "type": "external" } ], "gene_names_uniprotkb": "NEDD4; KIAA0093; NEDD4-1; PIG53; RPF1", "gene_names_refseq": "NEDD4-1; NEDD4; RPF1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase NEDD4; 2.3.2.26; Cell proliferation-inducing gene 53 protein; HECT-type E3 ubiquitin transferase NEDD4; NEDD-4; Neural precursor cell expressed developmentally down-regulated protein 4", "protein_names_refseq": "E3 ubiquitin-protein ligase NEDD4 isoform 3; HECT-type E3 ubiquitin transferase NEDD4; cell proliferation-inducing gene 53 protein; neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase; receptor-potentiating factor 1", "tax_id": 9606, "disease": "Liddle syndrome (Disease Ontology:DOID:0050477); muscular atrophy (Disease Ontology:DOID:767)", "pathway": " (hsa:4734); (R-HSA-1169408); (R-HSA-1253288); (R-HSA-8948747); (R-HSA-8948751); (R-HSA-983168)", "pathway_count": 6, "publication_count": 147, "publication_id_list": "10.1101/2023.09.13.557529;11035045;11062501;11095724;11112487;11157743;11237011;11342538;11350924;11598133;11788588;12297295;12525615;12559917;12582176;12646216;14581525;14734113;15131269;15224091;15224092;15485925;15571818;15702989;16009940;16112642;16122702;16139798;16352599;16407192;16428300;16595681;16699525;16715065;16775314;16815975;16849449;16872604;16914094;16954532;16959974;17218260;17218261;17289916;17376915;17463226;17681183;18199536;18287095;18305167;18327259;18353951;18562292;18583345;18662542;18669648;18716620;18819914;19028597;19047365;19073728;19125153;19193720;19270716;19345329;19352404;19452197;19473982;19487573;19489725;19690332;19729658;19851334;19874575;19920177;19940261;20080666;20086093;20133869;20159449;20219937;20223231;20308324;20385878;20388916;20559325;21191027;21399620;21532586;21765395;22000013;22096579;22179831;22223895;22374676;22427670;2261476;23166351;23186163;23230144;23419514;23644597;23665454;23856247;23873930;24270891;24367090;24379409;24714562;25547115;25631046;25892735;26183061;26280536;26854353;28904123;29242379;29314611;29393594;29557506;30379171;30784271;30833945;31217245;31373491;31844290;31848261;31937595;32101753;32157095;32350084;32938616;33592498;33936100;33968037;34171305;34357683;35051231;35251023;38634270;38783226;38888282;40596516;7559393;9380723;9525617;9668046", "class_list": "", "function": "(Microbial infection) Involved in the ubiquitination of Ebola virus protein VP40 which plays a role in viral budding., [UniProtKB, PubMed, PubMed]; DMT1 ubiquitination by Nedd4 protects against ferroptosis after intracerebral hemorrhage., [RefSeq, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Specifically ubiquitinates 'Lys-63' in target proteins (PubMed:19920177, PubMed:21399620, PubMed:23644597). Involved in the pathway leading to the degradation of VEGFR-2/KDFR, independently of its ubiquitin-ligase activity. Monoubiquitinates IGF1R at multiple sites, thus leading to receptor internalization and degradation in lysosomes (By similarity). Ubiquitinates FGFR1, leading to receptor internalization and degradation in lysosomes (PubMed:21765395). Promotes ubiquitination of RAPGEF2 (PubMed:11598133). According to PubMed:18562292 the direct link between NEDD4 and PTEN regulation through polyubiquitination described in PubMed:17218260 is questionable. Involved in ubiquitination of ERBB4 intracellular domain E4ICD (By similarity). Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development (By similarity). Ubiquitinates TNK2 and regulates EGF-induced degradation of EGFR and TNF2 (PubMed:20086093). Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Ubiquitinates DAZAP2, leading to its proteasomal degradation (PubMed:11342538). Ubiquitinates POLR2A (PubMed:19920177). Functions as a platform to recruit USP13 to form an NEDD4-USP13 deubiquitination complex that plays a critical role in cleaving the 'Lys-48'-linked ubiquitin chains of VPS34 and then stabilizing VPS34, thus promoting the formation of autophagosomes (PubMed:32101753)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; ECHDC2 inhibits the proliferation of gastric cancer cells by binding with NEDD4 to degrade MCCC2 and reduce aerobic glycolysis. Publication Status: Online-Only, [RefSeq, PubMed]; The Role of Ubiquitination and the E3 Ligase Nedd4 in Regulating Corneal Epithelial Wound Healing., [RefSeq, PubMed]; This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [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": 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": 5, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A1KY35;A6ND72;A7MD29;B4E2R7;B7ZM59;B7ZM60;B9EGN5;D6RF89", "ec_number_list": [ { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "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": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "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": "2.3.2.34", "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:0019870 potassium channel inhibitor activity;GO:0031698 beta-2 adrenergic receptor binding;GO:0019871 sodium channel inhibitor activity;GO:0019899 enzyme binding;GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus", "go_biological_process": "GO:1903765 negative regulation of potassium ion export across plasma membrane;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006955 immune response;GO:0007528 neuromuscular junction development;GO:0031175 neuron projection development", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "P46934-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NA66-1", "uniprot_id": [ { "id": "CNBD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NA66", "type": "external" } ], "mass": 50224.0, "length": 436, "protein_name": "Cyclic nucleotide-binding domain-containing protein 1", "gene_name": "CNBD1", "organism": "Human", "refseq_name": "cyclic nucleotide-binding domain-containing protein 1", "refseq_ac": [ { "id": "NP_775809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775809", "type": "external" } ], "gene_names_uniprotkb": "CNBD1", "gene_names_refseq": "CNBD1", "protein_names_uniprotkb": "Cyclic nucleotide-binding domain-containing protein 1", "protein_names_refseq": "cyclic nucleotide-binding domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:168975)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;18825932;28832583;29242379;29557506;35051231;35580925", "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": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NA66-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQW3-2", "uniprot_id": [ { "id": "COE4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQW3", "type": "external" } ], "mass": 64473.0, "length": 602, "protein_name": "Transcription factor COE4", "gene_name": "EBF4", "organism": "Human", "refseq_name": "transcription factor COE4 isoform 2", "refseq_ac": [ { "id": "NP_001382096", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382096", "type": "external" } ], "gene_names_uniprotkb": "EBF4; COE4; KIAA1442", "gene_names_refseq": "COE4; EBF4; O/E-4; OE-4", "protein_names_uniprotkb": "Transcription factor COE4; EBF-4; Early B-cell factor 4; O/E-4; OE-4; Olf-1/EBF-like 4", "protein_names_refseq": "Collier, Olf and EBF transcription factor 4; EBF family member 4; early B cell factor 4; olf-1/EBF-like 4; transcription factor COE4 isoform 2; transcription factor COE4", "tax_id": 9606, "disease": "", "pathway": " (hsa:57593)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "27846572;28832583;28904123;29485866;29643231;30379171;31154438;31844290;35939714", "class_list": "", "function": "EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]., [RefSeq]; Early B cell factor 4 modulates FAS-mediated apoptosis and promotes cytotoxic function in human immune cells., [RefSeq, PubMed]; Transcription factor (PubMed:35939714). Binds to specific sequence motif 5'-CCCNNG[GA]G-3' in regulatory elements of putative target immunoregulatory genes such as NKG7, GZMA, and TBX21 (PubMed:35939714). Positively modulates transcription of NKG7 (PubMed:35939714). May play a role in regulating FAS/CD95-mediated apoptosis in cytotoxic NK cells and T-cells, probably downstream of interleukin IL2 signaling (PubMed:35939714)., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q1MTP7;Q5JY53;Q9NUB6;Q9P2A6", "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:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0070231 T cell apoptotic process", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9BQW3-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49771-1", "uniprot_id": [ { "id": "FLT3L_HUMAN", "url": "https://www.uniprot.org/uniprot/P49771", "type": "external" } ], "mass": 26416.0, "length": 235, "protein_name": "Fms-related tyrosine kinase 3 ligand", "gene_name": "FLT3LG", "organism": "Human", "refseq_name": "fms-related tyrosine kinase 3 ligand isoform 1 precursor", "refseq_ac": [ { "id": "NP_001191431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191431", "type": "external" } ], "gene_names_uniprotkb": "FLT3LG", "gene_names_refseq": "FLG3L; FLT3LG; FLT3L; FL; IMD125", "protein_names_uniprotkb": "Fms-related tyrosine kinase 3 ligand; Flt3 ligand; Flt3L; SL cytokine", "protein_names_refseq": "flt3 ligand; fms related tyrosine kinase 3 ligand; fms-related tyrosine kinase 3 ligand isoform 1 precursor", "tax_id": 9606, "disease": "immunodeficiency 125 (Disease Ontology:DOID:0061091); aplastic anemia (Disease Ontology:DOID:12449); Fanconi anemia (Disease Ontology:DOID:13636); colon carcinoma (Disease Ontology:DOID:1520); pancreatic cancer (Disease Ontology:DOID:1793); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); myelofibrosis (Disease Ontology:DOID:4971); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:2323); (R-HSA-109704); (R-HSA-1257604); (R-HSA-2219530); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-9607240); (R-HSA-9645135); (R-HSA-9706369); (R-HSA-9706374); (R-HSA-9706377)", "pathway_count": 11, "publication_count": 182, "publication_id_list": "10.1101/2023.09.13.557529;10102273;10191262;10323868;10508167;10783894;10869344;10881197;11027663;11090077;11094066;11136978;11147812;11237011;11313946;11546808;11702783;11803464;12024036;12032311;12094235;12121613;12167717;12660731;12767043;1325671;1381348;14506247;14707138;14981546;15356145;1545823;15546878;15718470;15834429;16266983;16339315;16456541;16627759;16647110;16684964;16847462;17110436;1716764;17200115;17254966;17446348;17475912;17626883;17668209;17998941;18079394;18192505;18317450;18391968;18594509;18606717;18698078;18754654;18755892;18775330;18787071;18829560;18925875;1898771;19064725;19185485;19276253;19279408;19411071;19438505;19477218;19531498;19576174;19644473;19805105;19920141;19962665;20231295;20338997;20478380;20522708;20713702;21072051;21102635;21188471;21262971;21317208;21368164;21372320;21389326;21478295;21668414;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22438257;22569528;22588880;22589270;22750304;22802530;22942183;22952242;23103841;23168613;23246379;23300935;23303910;23443682;23548639;23575685;23707526;24525236;24705897;24897931;24937142;25219551;25781681;26085527;26308771;26848862;26895103;27458164;27666490;28086240;28522571;28576946;28611190;28778966;28851395;28904123;29062038;29309929;29557506;29880609;29964125;30429286;31066629;31135801;32157095;32350084;32938616;33298915;33369136;33968037;35051231;35281004;36010968;36081495;36845082;38701783;6148751;7543144;7566977;7637810;7692230;7744773;7809086;7935463;7972015;8052307;8145851;8180375;8394845;8479541;8493579;8645157;8657148;8665852;8710374;8939933;9604935;9736715;9895304;9918857;9927426", "class_list": "", "function": "A new cytokine-based dynamic stratification during induction is highly predictive of survivals in acute myeloid leukemia., [RefSeq, PubMed]; Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011]., [RefSeq]; Early-life hyperoxia-induced Flt3L drives neonatal lung dendritic cell expansion and proinflammatory responses. Publication Status: Online-Only, [RefSeq, PubMed]; FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice., [RefSeq, PubMed]; FLT3LG and IFITM3P6 consolidate T cell activity in the bone marrow microenvironment and are prognostic factors in acute myelocytic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Fast Maturation of Splenic Dendritic Cells Upon TBI Is Associated With FLT3/FLT3L Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Stimulates the proliferation of early hematopoietic cells by activating FLT3. Synergizes well with a number of other colony stimulating factors and interleukins. Required for the development of B cells, and dendritic cells (DCs)., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AVC2;B9EGH2;Q05C96", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0030971 receptor tyrosine kinase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0035162 embryonic hemopoiesis;GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0030183 B cell differentiation;GO:0097028 dendritic cell differentiation", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "P49771-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YL7-1", "uniprot_id": [ { "id": "PDPN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YL7", "type": "external" } ], "mass": 16698.0, "length": 162, "protein_name": "Podoplanin", "gene_name": "PDPN", "organism": "Human", "refseq_name": "podoplanin isoform c", "refseq_ac": [ { "id": "NP_001006625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006625", "type": "external" } ], "gene_names_uniprotkb": "PDPN; GP36; PSEC0003; PSEC0025", "gene_names_refseq": "AGGRUS; D2-40; GP36; GP40; Gp38; HT1A-1; OTS8; PA2.26; PDPN; T1A-2; T1A2; T1A; TI1A", "protein_names_uniprotkb": "Podoplanin; Aggrus; Glycoprotein 36; Gp36; PA2.26 antigen; T1-alpha; T1A", "protein_names_refseq": "PA2.26 antigen; T1-alpha; glycoprotein 36; glycoprotein, 36-KD; hT1alpha-1; hT1alpha-2; lung type I cell membrane associated glycoprotein; lung type-I cell membrane-associated glycoprotein (T1A-2); podoplanin isoform c", "tax_id": 9606, "disease": "adult respiratory distress syndrome (Disease Ontology:DOID:11394); oligohydramnios (Disease Ontology:DOID:12215); nephrosis (Disease Ontology:DOID:2527); glioblastoma (Disease Ontology:DOID:3068); germinoma (Disease Ontology:DOID:3304); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); in situ carcinoma (Disease Ontology:DOID:8719); bacterial pneumonia (Disease Ontology:DOID:874)", "pathway": " (hsa:10630); (R-HSA-114604); (R-HSA-9827857)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10.1038/emboj.2013.79;10026222;10393083;10469124;11237011;11262396;11481033;12813055;12832405;14522983;14978162;15231832;15515019;15708849;16174766;16303743;16938345;17046996;17222411;17616532;17944973;18215137;18541721;18589439;1874735;18955485;19268462;19409513;19700402;19850008;20962267;21376833;22267732;23541579;23584533;24275092;25458834;25486435;25543152;26189426;26492618;26492619;26872787;26937552;27148766;27328060;27564251;2841328;28736554;28985527;29091993;29485866;29557506;29713018;30459171;30590035;31154438;32127035;32921414;32938616;33470497;33592498;33608411;34065661;35411086;37658727;37891118;38384059;38470096;38619683;7624799;8246984;8617742;8673706;8986718;8990121;9028946;9438848;9651190;9768361;9895304", "class_list": "", "function": "Aggrus is a platelet aggregation-inducing factor expressed in colorectal tumors, [RefSeq, PubMed]; Exosome-transmitted podoplanin promotes tumor-associated macrophage-mediated immune tolerance in glioblastoma., [RefSeq, PubMed]; Expression of Claudin-4 and D2-40 and their significance in prostatic adenocarcinoma., [RefSeq, PubMed]; Inhibiting MMP13 Attenuates Deep Vein Thrombosis in a Mouse Model by Reducing the Expression of Pdpn., [RefSeq, PubMed]; Mediates effects on cell migration and adhesion through its different partners. During development plays a role in blood and lymphatic vessels separation by binding CLEC1B, triggering CLEC1B activation in platelets and leading to platelet activation and/or aggregation (PubMed:14522983, PubMed:15231832, PubMed:17222411, PubMed:17616532, PubMed:18215137). Interaction with CD9, on the contrary, attenuates platelet aggregation induced by PDPN (PubMed:18541721). Through MSN or EZR interaction promotes epithelial-mesenchymal transition (EMT) leading to ERZ phosphorylation and triggering RHOA activation leading to cell migration increase and invasiveness (PubMed:17046996, PubMed:21376833). Interaction with CD44 promotes directional cell migration in epithelial and tumor cells (PubMed:20962267). In lymph nodes (LNs), controls fibroblastic reticular cells (FRCs) adhesion to the extracellular matrix (ECM) and contraction of the actomyosin by maintaining ERM proteins (EZR; MSN and RDX) and MYL9 activation through association with unknown transmembrane proteins. Engagement of CLEC1B by PDPN promotes FRCs relaxation by blocking lateral membrane interactions leading to reduction of ERM proteins (EZR; MSN and RDX) and MYL9 activation (By similarity). Through binding with LGALS8 may participate in connection of the lymphatic endothelium to the surrounding extracellular matrix (PubMed:19268462). In keratinocytes, induces changes in cell morphology showing an elongated shape, numerous membrane protrusions, major reorganization of the actin cytoskeleton, increased motility and decreased cell adhesion (PubMed:15515019). Controls invadopodia stability and maturation leading to efficient degradation of the extracellular matrix (ECM) in tumor cells through modulation of RHOC activity in order to activate ROCK1/ROCK2 and LIMK1/LIMK2 and inactivation of CFL1 (PubMed:25486435). Required for normal lung cell proliferation and alveolus formation at birth (By similarity). Does not function as a water channel or as a regulator of aquaporin-type water channels (PubMed:9651190). Does not have any effect on folic acid or amino acid transport (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Podoplanin-positive cells located in the basal layer of Bowen disease include tumor cells with cancer stem cell properties., [RefSeq, PubMed]; Pre-operative incisional biopsy of oral squamous cell carcinoma: high podoplanin expression is related to perineural invasion and may be a useful predictor of disease progression., [RefSeq, PubMed]; This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 20, "predicted_n_glycosites": 0, "predicted_o_glycosites": 20, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 0, "mined_o_glycosites": 3, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 4, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 10, "glyco_site_count": 26, "binding_glycan_count": 0, "secondary_ac_list": "A9Z1Y2;B2R6J8;E9PB68;F6QWX5;O60836;O95128;Q7L375;Q8NBQ8;Q8NBR3", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0051087 protein-folding chaperone binding;GO:0019956 chemokine binding", "go_cellular_component": "GO:0061851 leading edge of lamellipodium;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:1900024 regulation of substrate adhesion-dependent cell spreading;GO:0060838 lymphatic endothelial cell fate commitment;GO:1904328 regulation of myofibroblast contraction;GO:0007155 cell adhesion;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q86YL7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010001000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L2K0-1", "uniprot_id": [ { "id": "TEDC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L2K0", "type": "external" } ], "mass": 46402.0, "length": 433, "protein_name": "Tubulin epsilon and delta complex protein 2", "gene_name": "TEDC2", "organism": "Human", "refseq_name": "tubulin epsilon and delta complex protein 2", "refseq_ac": [ { "id": "NP_079384", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079384", "type": "external" } ], "gene_names_uniprotkb": "TEDC2; C16orf59", "gene_names_refseq": "C16orf59; TEDC2", "protein_names_uniprotkb": "Tubulin epsilon and delta complex protein 2", "protein_names_refseq": "tubulin epsilon and delta complex protein 2; uncharacterized protein C16orf59", "tax_id": 9606, "disease": "", "pathway": " (hsa:80178)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;19413330;23186163;23481700;26375851;26992070;27920218;28228285;28834231;29242379;29493099;30315122;30779550;31844290;32157095;32387766;32502341;32938616;32983136;33141586;33298915;33717175;33936100;33968037;34171305;34561969;34932366;35051231;36241641;36973475;37867019;38239349;38253038", "class_list": "", "function": "A pan-cancer analysis of the prognostic implication and oncogenic role of tubulin epsilon and delta complex 2 (TEDC2) in human tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Acts as a positive regulator of ciliary hedgehog signaling. Required for centriole stability., [UniProtKB, UniProtKB]; TEDC2 correlated with prognosis and immune microenvironment in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; TEDC2 plays an oncogenic role and serves as a therapeutic target of hepatocellular carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DXD7;Q96H61;Q9H872", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005929 cilium;GO:0005814 centriole", "go_biological_process": "GO:0045880 positive regulation of smoothened signaling pathway;GO:0007010 cytoskeleton organization;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q7L2K0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q10570-1", "uniprot_id": [ { "id": "CPSF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q10570", "type": "external" } ], "mass": 160884.0, "length": 1443, "protein_name": "Cleavage and polyadenylation specificity factor subunit 1", "gene_name": "CPSF1", "organism": "Human", "refseq_name": "cleavage and polyadenylation specificity factor subunit 1", "refseq_ac": [ { "id": "NP_037423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037423", "type": "external" } ], "gene_names_uniprotkb": "CPSF1; CPSF160", "gene_names_refseq": "CPSF160; CPSF1; HSU37012; MYP27; P/cl.18", "protein_names_uniprotkb": "Cleavage and polyadenylation specificity factor subunit 1; CPSF 160 kDa subunit; Cleavage and polyadenylation specificity factor 160 kDa subunit", "protein_names_refseq": "CPSF 160 kDa subunit; cleavage and polyadenylation specific factor 1, 160kDa; cleavage and polyadenylation specificity factor 160 kDa subunit; cleavage and polyadenylation specificity factor subunit 1; polyadenylation specificity factor", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); primary cutaneous T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0060061); acute promyelocytic leukemia (Disease Ontology:DOID:0060318); chronic myelomonocytic leukemia (Disease Ontology:DOID:0080188); B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630); melanoma and neural system tumor syndrome (Disease Ontology:DOID:0111511); dysplastic nevus syndrome (Disease Ontology:DOID:10041); prostate cancer (Disease Ontology:DOID:10283); open-angle glaucoma (Disease Ontology:DOID:1067); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); myopia (Disease Ontology:DOID:11830); leukemia (Disease Ontology:DOID:1240); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); squamous cell carcinoma (Disease Ontology:DOID:1749); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); leiomyosarcoma (Disease Ontology:DOID:1967); nephroblastoma (Disease Ontology:DOID:2154); transitional cell carcinoma (Disease Ontology:DOID:2671); granulosa cell tumor (Disease Ontology:DOID:2999); invasive ductal carcinoma (Disease Ontology:DOID:3008); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); neurilemmoma (Disease Ontology:DOID:3192); germinoma (Disease Ontology:DOID:3304); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); renal cell carcinoma (Disease Ontology:DOID:4450); pancreatic carcinoma (Disease Ontology:DOID:4905); cholangiocarcinoma (Disease Ontology:DOID:4947); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603); uterine carcinosarcoma (Disease Ontology:DOID:6171); hepatocellular carcinoma (Disease Ontology:DOID:684); familial melanoma (Disease Ontology:DOID:6846); neuroblastoma (Disease Ontology:DOID:769); chronic myeloid leukemia (Disease Ontology:DOID:8552); in situ carcinoma (Disease Ontology:DOID:8719); erythema infectiosum (Disease Ontology:DOID:8743); skin melanoma (Disease Ontology:DOID:8923); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); acute myeloid leukemia (Disease Ontology:DOID:9119); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); myopia 27 (MONDO:MONDO:0032941)", "pathway": " (hsa:29894); (R-HSA-159231); (R-HSA-6784531); (R-HSA-72187); (R-HSA-73856); (R-HSA-77595); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 8, "publication_count": 205, "publication_id_list": "10.1101/2023.09.13.557529;10444065;10669729;11014198;11060040;11237011;11455963;11727826;11739730;11747608;11871657;11979277;12138183;12526808;12711671;12729736;12871933;14519844;14749727;14762106;15037765;15084397;15109492;15120988;15302935;15317868;15565158;15998806;16361254;16710424;17081983;17128255;17190602;17204286;17224653;17317185;17984224;18226598;18288197;18411249;18452278;18669648;18809514;18957205;18984158;19217410;19494120;19748539;19836239;20068231;2017161;20573985;20630994;20695905;20844015;21102410;21295486;21311021;21450806;21559454;21593607;21911577;21947206;22207203;22544926;22813749;22898188;22928037;22944664;23186163;23222130;23299939;23481700;23582887;23804756;23874216;24076191;24149845;24244187;24366607;24397554;2470644;24714562;24715725;24870230;25301780;25301781;25418920;25576301;25640237;25645385;25662211;25836925;25849199;25880248;25892735;26092250;26154972;26375851;26728094;26811146;26929215;26992070;27108190;27600516;27846572;27862975;27920218;28063628;28096519;28218747;28228285;28514659;28649982;28832583;28834231;28855257;28904123;28911096;29186539;29242379;29274231;29331515;29358758;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29902443;30139799;30257008;30315122;30379171;30429286;30524438;30599162;30689892;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32816001;32897882;32938616;32983136;33141586;33177556;33298915;33392160;33469008;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34405274;34509645;34932366;35051231;35177536;35215846;35318648;35494241;35580925;35874702;36010968;36215666;36241641;36284347;37938771;38665916;39302247;6930639;7590244;7759547;7828588;9512417;9659921;9660920", "class_list": "", "function": "Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]., [RefSeq]; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. This subunit is involved in the RNA recognition step of the polyadenylation reaction (PubMed:14749727). May play a role in eye morphogenesis and the development of retinal ganglion cell projections to the midbrain (By similarity)., [UniProtKB, PubMed, UniProtKB]; Cryo-electron microscopic analysis of a core CPSF module bound to the polyadenylation signal hexamer motif Erratum:[Nat Struct Mol Biol. 2018 Apr;25(4):355. doi: 10.1038/s41594-018-0044-6. PMID: 29540792], [RefSeq, PubMed]; Epidermal progenitors suppress GRHL3-mediated differentiation through intronic polyadenylation promoted by CPSF-HNRNPA3 collaboration. Publication Status: Online-Only, [RefSeq, PubMed]; Heterozygous loss-of-function mutations in CPSF1 are associated with early-onset high myopia and that CPSF1 may play an important role in the development of retinal ganglion cell axon projection., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 49, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q96AF0", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0035925 mRNA 3'-UTR AU-rich region binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005847 mRNA cleavage and polyadenylation specificity factor complex", "go_biological_process": "GO:0031124 mRNA 3'-end processing;GO:0180012 co-transcriptional RNA 3'-end processing, cleavage and polyadenylation pathway;GO:0031123 RNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 21.0, "record_id": "Q10570-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRQ2-1", "uniprot_id": [ { "id": "PLS4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRQ2", "type": "external" } ], "mass": 37005.0, "length": 329, "protein_name": "Phospholipid scramblase 4", "gene_name": "PLSCR4", "organism": "Human", "refseq_name": "phospholipid scramblase 4 isoform a", "refseq_ac": [ { "id": "NP_001121776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121776", "type": "external" } ], "gene_names_uniprotkb": "PLSCR4; GIG43", "gene_names_refseq": "PLSCR4; TRA1", "protein_names_uniprotkb": "Phospholipid scramblase 4; Ca(2+)-dependent phospholipid scramblase 4; Cell growth-inhibiting gene 43 protein; PL scramblase 4; TRA1", "protein_names_refseq": "Ca(2+)-dependent phospholipid scramblase 4; PL scramblase 4; cell growth inhibiting protein 43; phospholipid scramblase 4 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:57088)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10930526;11237011;18256029;19333378;19540310;21690087;23089641;25880248;27600516;28218747;28832583;29242379;29437277;30429286;31154438;32157095;32357974;32938616;33577029;34357683;34772994;35051231;35318648;35580925;36077184;36284347", "class_list": "", "function": "Catalyzes metal ion-induced ATP-independent rapid bidirectional and non-specific movement of phospholipids (lipid scrambling or lipid flip-flop) between the inner and outer leaflet of the plasma membrane and participates in the redistribution of phospholipids between membrane leaflets (PubMed:23089641). Metal ions bind to the calcium-binding site and induce conformation change in the protein (PubMed:23089641). Has a greater affi nity for Ca(2+) than Mg(2+) and Zn(2+) (PubMed:23089641)., [UniProtKB, PubMed]; Crystallographic analysis of mammalian importin alpha1 in complex with the hPLSCR4-NLS reveals this minimal NLS binds specifically and exclusively to the minor binding site of importin alpha, [RefSeq, PubMed]; LINC00641 induces the malignant progression of colorectal carcinoma through the miRNA-424-5p/PLSCR4 feedback loop., [RefSeq, PubMed]; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Phospholipid Scramblase 4 (PLSCR4) Regulates Adipocyte Differentiation via PIP3-Mediated AKT Activation. Publication Status: Online-Only, [RefSeq, PubMed]; Results show that binding affinities of the peptides are in the order hPLSCR1>hPLSCR3>hPLSCR2>hPLSCR4 for Ca2+ and in the order hPLSCR1>hPLSCR2>hPLSCR3>hPLSCR4 for Mg2+., [RefSeq, PubMed]; SLPI is a ligand for PLSCR1 and PLSCR4, which also interact directly with the CD4 receptor at the cell surface of T lymphocytes Erratum:[PLoS ONE. 2009;4(4). doi: 10.1371/annotation/657cd713-aaac-4ebb-80ad-3ec8dfb12b42], [RefSeq, PubMed]; Whole blood transcriptomic analysis reveals PLSCR4 as a potential marker for vaso-occlusive crises in sickle cell disease. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 4, "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": "A8K2E9;Q2TTR3;Q658L3;Q6ZR73;Q7Z505", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0019899 enzyme binding;GO:0005509 calcium ion binding;GO:0042609 CD4 receptor binding;GO:0017128 phospholipid scramblase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane", "go_biological_process": "GO:0071222 cellular response to lipopolysaccharide;GO:0017121 plasma membrane phospholipid scrambling;GO:0061589 calcium activated phosphatidylserine scrambling;GO:0061590 calcium activated phosphatidylcholine scrambling", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9NRQ2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08684-1", "uniprot_id": [ { "id": "CP3A4_HUMAN", "url": "https://www.uniprot.org/uniprot/P08684", "type": "external" } ], "mass": 57343.0, "length": 503, "protein_name": "Cytochrome P450 3A4", "gene_name": "CYP3A4", "organism": "Human", "refseq_name": "cytochrome P450 3A4 isoform 2", "refseq_ac": [ { "id": "NP_001189784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189784", "type": "external" } ], "gene_names_uniprotkb": "CYP3A4; CYP3A3", "gene_names_refseq": "CP33; CP34; CYP3A3; CYP3A4; CYP3A; CYPIIIA3; CYPIIIA4; HLP; NF-25; P450C3; P450PCN1; VDDR3", "protein_names_uniprotkb": "Cytochrome P450 3A4; 1,4-cineole 2-exo-monooxygenase; 1,8-cineole 2-exo-monooxygenase; 1.14.14.1; 1.14.14.55; 1.14.14.56; 1.14.14.73; Albendazole monooxygenase (sulfoxide-forming); Albendazole sulfoxidase; CYPIIIA3; CYPIIIA4; Cholesterol 25-hydroxylase; Cytochrome P450 3A3; Cytochrome P450 HLp; Cytochrome P450 NF-25; Cytochrome P450-PCN1; Nifedipine oxidase; Quinine 3-monooxygenase", "protein_names_refseq": "1,4-cineole 2-exo-monooxygenase; 1,8-cineole 2-exo-monooxygenase; P450-III, steroid inducible; albendazole monooxygenase (sulfoxide-forming); albendazole sulfoxidase; cholesterol 25-hydroxylase; cytochrome P450 3A3; cytochrome P450 3A4 isoform 2; cytochrome P450 3A4; cytochrome P450 HLp; cytochrome P450 NF-25; cytochrome P450, family 3, subfamily A, polypeptide 4; cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 3; cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4; cytochrome P450-PCN1; glucocorticoid-inducible P450; nifedipine oxidase; quinine 3-monooxygenase; taurochenodeoxycholate 6-alpha-hydroxylase", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); alcohol-associated liver disease (Disease Ontology:DOID:0070658); cholestasis (Disease Ontology:DOID:13580); breast cancer (Disease Ontology:DOID:1612); anxiety disorder (Disease Ontology:DOID:2030); familial Mediterranean fever (Disease Ontology:DOID:2987); liver cirrhosis (Disease Ontology:DOID:5082); end stage renal disease (Disease Ontology:DOID:783); vitamin D-dependent rickets, type 3 (MONDO:MONDO:0033640)", "pathway": " (hsa:1576); (R-HSA-211945); (R-HSA-211981); (R-HSA-5423646); (R-HSA-9027307); (R-HSA-9749641); (R-HSA-9754706); (R-HSA-9757110)", "pathway_count": 8, "publication_count": 251, "publication_id_list": "10220572;10322772;10383923;10434065;10445380;10484077;10601278;10665657;10668853;10673364;10681376;10729196;10759686;10945627;11038166;11093772;11154734;11159812;11181494;11237011;11266076;11409944;11422004;11470997;11504826;11555828;11581266;11695850;11714865;11726664;11875366;11902585;11904223;11950779;12144777;12379510;12464245;12466373;12604685;12616642;12629583;12673034;12725862;12727802;12732646;12781776;12865317;12933810;1351198;1352877;1356264;1359686;13741103;14559847;14661924;1504254;15175422;15196988;15256616;15258162;15350128;15365656;15373842;15454734;15469410;15472518;15492766;15497697;15523003;15535985;15665333;15764715;15801541;15904907;16258079;16359177;16385575;1643250;16614850;16765324;16837570;16858120;16943252;16970545;17200165;17400359;17482904;1783992;18254726;18256025;18282684;18285471;18357469;18416522;18513745;18545703;18720283;19053771;19094056;19095658;19103148;19359404;19447222;19463;19588076;1968359;19764817;19794410;19836360;19862647;19965576;19965612;20007405;20177059;20190787;2025243;20422440;20542992;20583968;20621639;20702771;21112969;21278621;21490593;21576599;21839062;21852972;22101235;22344233;22674043;22700792;22773874;22813719;23063411;23481700;23531488;23562342;23616950;23953689;24423752;2463251;24677340;24715725;24799396;24900196;25144769;25200603;25425164;25446851;2563251;2570070;2573352;25800201;25840124;25923589;26208431;2639662;26412035;26988023;26992070;2732228;27411675;27862975;28132103;28677105;2876781;2897122;2898143;29109094;29461981;29557506;30137266;31154438;31701669;32152082;32171872;32187464;32205870;32210741;32325220;3243766;32488085;3267210;32758877;32981041;33392160;3342084;3372534;34045219;34171305;34185709;3460094;3464943;3472246;35051231;35580925;3593903;36284347;3705620;3709632;38199567;38457234;38884784;3898085;38996572;39079373;3931076;5013373;5773090;5862532;6220203;6492791;6777177;6838677;7073761;7195405;7206363;7217086;7310640;7400951;7588203;7764673;7766804;7802672;7865904;7894497;7903454;7980644;8035341;8439558;8647857;8703034;8812420;8968357;8975785;8985016;9144407;9169443;9278457;931988;9367528;9414488;9435160;9543163;9576847;9644715;9652413;9653080;975718;9816258;9842986", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of sterols, steroid hormones, retinoids and fatty acids (PubMed:10681376, PubMed:11093772, PubMed:11555828, PubMed:12865317, PubMed:14559847, PubMed:15373842, PubMed:15764715, PubMed:19965576, PubMed:20702771, PubMed:21490593, PubMed:21576599). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds (PubMed:12865317, PubMed:14559847, PubMed:15373842, PubMed:15764715, PubMed:21490593, PubMed:21576599, PubMed:2732228). Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E2, as well as D-ring hydroxylated E1 and E2 at the C-16 position (PubMed:11555828, PubMed:12865317, PubMed:14559847). Plays a role in the metabolism of androgens, particularly in oxidative deactivation of testosterone (PubMed:15373842, PubMed:15764715, PubMed:22773874, PubMed:2732228). Metabolizes testosterone to less biologically active 2beta- and 6beta-hydroxytestosterones (PubMed:15373842, PubMed:15764715, PubMed:2732228). Contributes to the formation of hydroxycholesterols (oxysterols), particularly A-ring hydroxylated cholesterol at the C-4beta position, and side chain hydroxylated cholesterol at the C-25 position, likely contributing to cholesterol degradation and bile acid biosynthesis (PubMed:21576599). Catalyzes bisallylic hydroxylation of polyunsaturated fatty acids (PUFA) (PubMed:9435160). Catalyzes the epoxidation of double bonds of PUFA with a preference for the last double bond (PubMed:19965576). Metabolizes endocannabinoid arachidonoylethanolamide (anandamide) to 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling (PubMed:20702771). Plays a role in the metabolism of retinoids. Displays high catalytic activity for oxidation of all-trans-retinol to all-trans-retinal, a rate-limiting step for the biosynthesis of all-trans-retinoic acid (atRA) (PubMed:10681376). Further metabolizes atRA toward 4-hydroxyretinoate and may play a role in hepatic atRA clearance (PubMed:11093772). Responsible for oxidative metabolism of xenobiotics. Acts as a 2-exo-monooxygenase for plant lipid 1,8-cineole (eucalyptol) (PubMed:11159812). Metabolizes the majority of the administered drugs. Catalyzes sulfoxidation of the anthelmintics albendazole and fenbendazole (PubMed:10759686). Hydroxylates antimalarial drug quinine (PubMed:8968357). Acts as a 1,4-cineole 2-exo-monooxygenase (PubMed:11695850). Also involved in vitamin D catabolism and calcium homeostasis. Catalyzes the inactivation of the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)) (PubMed:29461981)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics., [UniProtKB, UniProtKB]; Effects of CYP3A4 genetic polymorphisms on the pharmacokinetics and efficacy of perampanel in Chinese pediatric patients with epilepsy., [RefSeq, PubMed]; Functional maturation of cytochromes P450 3A4 and 2D6 relies on GAPDH- and Hsp90-Dependent heme allocation., [RefSeq, PubMed]; Genetic variation present in the CYP3A4 gene in Ni-Vanuatu and Kenyan populations in malaria endemicity., [RefSeq, PubMed]; Polymorphism of CYP3A4*18 is associated with anti-tuberculosis drug-induced hepatotoxicity., [RefSeq, PubMed]; Probe Substrate Dependencies in CYP3A4 Allosteric Inhibition: A Novel Molecular Mechanism Involving F-F' Loop Perturbations., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "response; prognostic", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P05184;Q16757;Q9UK50", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "1.14.13.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.n7", "type": "external" }, { "id": "1.14.14.55", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.55", "type": "external" }, { "id": "1.14.14.56", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.56", "type": "external" }, { "id": "1.14.14.73", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.73", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.14.14.14", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.14", "type": "external" }, { "id": "1.14.14.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.51", "type": "external" }, { "id": "1.14.14.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.52", "type": "external" }, { "id": "1.14.14.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.53", "type": "external" }, { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" }, { "id": "1.14.14.75", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.75", "type": "external" }, { "id": "5.4.4.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.4.7", "type": "external" }, { "id": "1.14.14.74", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.74", "type": "external" }, { "id": "1.14.14.78", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.78", "type": "external" }, { "id": "1.14.14.79", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.79", "type": "external" }, { "id": "1.14.14.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.94", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "type": "external" }, { "id": "1.14.14.130", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.130", "type": "external" }, { "id": "5.3.99.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.5", "type": "external" }, { "id": "1.14.14.25", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.25", "type": "external" } ], "go_molecular_function": "GO:0008401 retinoic acid 4-hydroxylase activity;GO:0101020 estrogen 16-alpha-hydroxylase activity;GO:0005506 iron ion binding;GO:0019899 enzyme binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0002933 lipid hydroxylation;GO:0008210 estrogen metabolic process;GO:0016098 monoterpenoid metabolic process;GO:0042359 vitamin D metabolic process;GO:0042369 vitamin D catabolic process", "synthesized_glycan_count": 0, "hit_score": 25.2, "record_id": "P08684-1", "record_type": "protein", "filter_code": "0001010.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35606-1", "uniprot_id": [ { "id": "COPB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P35606", "type": "external" } ], "mass": 102487.0, "length": 906, "protein_name": "Coatomer subunit beta'", "gene_name": "COPB2", "organism": "Human", "refseq_name": "coatomer subunit beta' isoform 1", "refseq_ac": [ { "id": "NP_004757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004757", "type": "external" } ], "gene_names_uniprotkb": "COPB2", "gene_names_refseq": "COPB2; MCPH19; OPDD; beta'-COP", "protein_names_uniprotkb": "Coatomer subunit beta'; Beta'-COP; Beta'-coat protein; p102", "protein_names_refseq": "COPI coat complex subunit beta 2; beta'-coat protein; betaprime-COP; coatomer binding complex, beta prime subunit; coatomer protein complex subunit beta 2; coatomer protein complex subunit beta prime; coatomer protein complex, subunit beta 2 (beta prime); coatomer subunit beta' isoform 1; coatomer subunit beta'; p102", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); paroxysmal nocturnal hemoglobinuria (Disease Ontology:DOID:0060284); primary autosomal recessive microcephaly 19 (Disease Ontology:DOID:0070281); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); lupus nephritis (Disease Ontology:DOID:0080162); atypical hemolytic-uremic syndrome (Disease Ontology:DOID:0080301); COVID-19 (Disease Ontology:DOID:0080600); erythema nodosum (Disease Ontology:DOID:0080750); age related macular degeneration 7 (Disease Ontology:DOID:0110019); age related macular degeneration 9 (Disease Ontology:DOID:0110021); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); dry eye syndrome (Disease Ontology:DOID:10140); silicosis (Disease Ontology:DOID:10325); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); lepromatous leprosy (Disease Ontology:DOID:10887); microcephaly (Disease Ontology:DOID:10907); sickle cell anemia (Disease Ontology:DOID:10923); membranous glomerulonephritis (Disease Ontology:DOID:10976); pneumocystosis (Disease Ontology:DOID:11339); adult respiratory distress syndrome (Disease Ontology:DOID:11394); sciatic neuropathy (Disease Ontology:DOID:11446); Fuchs' endothelial dystrophy (Disease Ontology:DOID:11555); factor VIII deficiency (Disease Ontology:DOID:12134); neurodegenerative disease (Disease Ontology:DOID:1289); pulmonary sarcoidosis (Disease Ontology:DOID:13406); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); anterior uveitis (Disease Ontology:DOID:1407); boutonneuse fever (Disease Ontology:DOID:14095); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); opiate dependence (Disease Ontology:DOID:2559); asthma (Disease Ontology:DOID:2841); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); glomerulonephritis (Disease Ontology:DOID:2921); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); atopic dermatitis (Disease Ontology:DOID:3310); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); mood disorder (Disease Ontology:DOID:3324); middle cerebral artery infarction (Disease Ontology:DOID:3525); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); rhinitis (Disease Ontology:DOID:4483); arteriolosclerosis (Disease Ontology:DOID:5162); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); pneumonia (Disease Ontology:DOID:552); myocardial infarction (Disease Ontology:DOID:5844); conjunctivitis (Disease Ontology:DOID:6195); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); complement component 3 deficiency (Disease Ontology:DOID:8354); retinal degeneration (Disease Ontology:DOID:8466); systemic lupus erythematosus (Disease Ontology:DOID:9074); ocular hypertension (Disease Ontology:DOID:9282); acute myocardial infarction (Disease Ontology:DOID:9408); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); osteoporosis, childhood- or juvenile-onset, with developmental delay (MONDO:MONDO:0859253)", "pathway": " (hsa:9276); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 3, "publication_count": 264, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11172815;11237011;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12388752;12634853;12665801;14504276;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17081983;17113389;17253781;17274799;17360540;17429068;17451557;17760859;17924679;17927562;17956946;18083107;18086915;18182008;18283113;18287528;18452278;18491316;18524849;18669648;18691976;18809720;1898986;19015319;19109418;19151722;19164740;19296914;19369418;19413330;1957170;19608861;19631211;19651622;19664995;19690332;19758564;20005805;20058876;20068231;20112406;20136777;20166139;20357002;20427317;20462495;20534429;20637885;21136679;21209280;21219331;21406692;21550981;21689688;21844168;21872626;21993680;22013193;22094269;22304919;22424782;22544926;22869377;23186163;23396477;23481700;23783831;23839779;24119662;24275569;24366607;24714562;24715725;24806965;25129144;25364732;25418920;25436559;25492864;25502872;25505266;25576301;25645385;25802875;25810538;25880248;25892735;26154972;26375851;26728094;26811146;26929215;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28855257;28904123;29036432;29242379;29314611;29331515;29351928;29393594;29437277;29485866;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31020640;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34450031;34509645;34676262;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35561310;35580925;35715770;36010968;36215666;36241641;36284347;36581221;37217939;37296621;37938771;38665916;40596516;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8335000;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "An Integrative Pan-Cancer Analysis of the Oncogenic Role of COPB2 in Human Tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Beta-COP Suppresses the Surface Expression of the TREK2. Publication Status: Online-Only, [RefSeq, PubMed]; Comprehensive analysis reveals COPB2 and RYK associated with tumor stages of larynx squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]., [RefSeq]; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This coatomer complex protein, essential for Golgi budding and vesicular trafficking, is a selective binding protein (RACK) for protein kinase C, epsilon type. It binds to Golgi membranes in a GTP-dependent manner (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 63, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DZI8", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0030133 transport vesicle;GO:0030126 COPI vesicle coat", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0006891 intra-Golgi vesicle-mediated transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 26.8, "record_id": "P35606-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00409-1", "uniprot_id": [ { "id": "FOXN3_HUMAN", "url": "https://www.uniprot.org/uniprot/O00409", "type": "external" } ], "mass": 53835.0, "length": 490, "protein_name": "Forkhead box protein N3", "gene_name": "FOXN3", "organism": "Human", "refseq_name": "forkhead box protein N3 isoform 1", "refseq_ac": [ { "id": "NP_001078940", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078940", "type": "external" } ], "gene_names_uniprotkb": "FOXN3; C14orf116; CHES1", "gene_names_refseq": "C14orf116; CHES1; FOXN3; PRO1635", "protein_names_uniprotkb": "Forkhead box protein N3; Checkpoint suppressor 1", "protein_names_refseq": "checkpoint suppressor 1; forkhead box protein N3 isoform 1; forkhead box protein N3", "tax_id": 9606, "disease": "", "pathway": " (hsa:1112)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;16102918;19690332;25576301;26992070;28228285;28832583;28834231;29242379;29371260;29393594;29485866;29493099;29557506;30429286;31154438;31844290;32157095;32161166;32357974;32387766;32619584;32983136;33317407;33537174;33968037;34185709;34511432;35580925;36010968;37016167;38718846;9154802", "class_list": "", "function": "Acts as a transcriptional repressor. May be involved in DNA damage-inducible cell cycle arrests (checkpoints)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; CHES1 modulated tumorigenesis and senescence of pancreas cancer cells through repressing AKR1B10., [RefSeq, PubMed]; Data suggest that CHES1 recruits Ski-interacting protein (SKIP) to repress genes important for tumorigenesis and the response to cancer treatments., [RefSeq, PubMed]; FOXN3 inhibits cell proliferation and invasion via modulating the AKT/MDM2/p53 axis in human glioma., [RefSeq, PubMed]; FOXN3 inhibits the progression of ovarian cancer through negatively regulating the expression of RPS15A., [RefSeq, PubMed]; FOXN3 suppresses the growth and invasion of papillary thyroid cancer through the inactivation of Wnt/beta-catenin pathway., [RefSeq, PubMed]; MiR-574-5p Targets FOXN3 to Regulate the Invasion of Nasopharyngeal Carcinoma Cells via Wnt/beta-Catenin Pathway., [RefSeq, PubMed]; This gene is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 and G2. Checkpoint suppressor 1 suppresses multiple yeast checkpoint mutations including mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. Alternative splicing is observed at the locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "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": "Q96II7;Q9UIE7", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0000987 cis-regulatory region sequence-specific DNA binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0007095 mitotic G2 DNA damage checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "O00409-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MX0-1", "uniprot_id": [ { "id": "CKLF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MX0", "type": "external" } ], "mass": 19714.0, "length": 182, "protein_name": "CKLF-like MARVEL transmembrane domain-containing protein 3", "gene_name": "CMTM3", "organism": "Human", "refseq_name": "CKLF-like MARVEL transmembrane domain-containing protein 3", "refseq_ac": [ { "id": "NP_653202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653202", "type": "external" } ], "gene_names_uniprotkb": "CMTM3; CKLFSF3", "gene_names_refseq": "BNAS2; CKLFSF3; CMTM3", "protein_names_uniprotkb": "CKLF-like MARVEL transmembrane domain-containing protein 3; Chemokine-like factor superfamily member 3", "protein_names_refseq": "CKLF-like MARVEL transmembrane domain-containing protein 3; chemokine-like factor superfamily member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:123920)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12782130;17002874;18402773;25502872;28228285;28782576;28904123;29345297;30315122;31217245;31844290;32357974;34048099;34357683", "class_list": "", "function": "Bioinformatics based on CKLF2 cDNA and protein sequences in combination with experimental validation identified CKLFSF1-8 gene clusters, between the SCY and the TM4SF gene families. The 8 family members were cloned and characterized., [RefSeq, PubMed]; CMTM3 exhibited a lower expression pattern in gastric cancer tissues.MiR-135b-5p promotes gastric cancer progression by targeting CMTM3., [RefSeq, PubMed]; CMTM3 inhibits prostate-specific antigen expression at both mRNA and protein levels with no obvious influence on androgen receptor expression., [RefSeq, PubMed]; CMTM3 was significantly hypermethylated in colorectal cancer tissues when compared with adjacent normal colorectal tissues., [RefSeq, PubMed]; CMTM3/CKLFSF3 is an evolutionarily conserved gene that may have important roles in the male reproductive system and immune system., [RefSeq, PubMed]; Familial hypereosinophilia associated with eosinophilic gastrointestinal symptoms in individuals with a missense mutation in CKLF-like MARVEL transmembrane domain containing 3., [RefSeq, PubMed]; This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5' UTRs, but encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A6NCL9;Q8IUU8;Q8IWQ6;Q8IYE2;Q8IZ39;Q8IZ59", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0006935 chemotaxis", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q96MX0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99807-1", "uniprot_id": [ { "id": "COQ7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99807", "type": "external" } ], "mass": 24277.0, "length": 217, "protein_name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial", "gene_name": "COQ7", "organism": "Human", "refseq_name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001177912", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177912", "type": "external" } ], "gene_names_uniprotkb": "COQ7", "gene_names_refseq": "CAT5; COQ10D8; COQ7; HMNR9", "protein_names_uniprotkb": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial; 1.14.13.253; 3-demethoxyubiquinone 3-hydroxylase (NADH); Timing protein clk-1 homolog; Ubiquinone biosynthesis monooxygenase COQ7", "protein_names_refseq": "3-demethoxyubiquinone 3-hydroxylase (NADH); 5-demethoxyubiquinone hydroxylase, mitochondrial; COQ7 coenzyme Q, 7 homolog ubiquinone; DMQ hydroxylase; NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial isoform 2; NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial; coenzyme Q biosynthesis protein 7 homolog; coenzyme Q7 homolog, ubiquinone; placental protein KG-20; timing protein clk-1 homolog; ubiquinone biosynthesis monooxygenase COQ7; ubiquinone biosynthesis protein COQ7 homolog", "tax_id": 9606, "disease": "Lambert-Eaton myasthenic syndrome (Disease Ontology:DOID:0050214); childhood electroclinical syndrome (Disease Ontology:DOID:0050704); cerebellar ataxia (Disease Ontology:DOID:0050753); generalized dystonia (Disease Ontology:DOID:0050835); hereditary ataxia (Disease Ontology:DOID:0050951); spinocerebellar ataxia 6 (Disease Ontology:DOID:0050956); episodic ataxia type 2 (Disease Ontology:DOID:0050990); familial hemiplegic migraine (Disease Ontology:DOID:0060178); primary coenzyme Q10 deficiency 8 (Disease Ontology:DOID:0070245); absence epilepsy (Disease Ontology:DOID:0070309); developmental and epileptic encephalopathy 42 (Disease Ontology:DOID:0080454); autosomal recessive distal hereditary motor neuronopathy 9 (Disease Ontology:DOID:0081428); familial hemiplegic migraine 1 (Disease Ontology:DOID:0111181); migraine with aura (Disease Ontology:DOID:10024); childhood absence epilepsy (Disease Ontology:DOID:1825); epilepsy (Disease Ontology:DOID:1826); generalized epilepsy (Disease Ontology:DOID:1827); temporal lobe epilepsy (Disease Ontology:DOID:3328); migraine (Disease Ontology:DOID:6364)", "pathway": " (hsa:10229); (R-HSA-2142789)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10373327;10501970;10777520;11230166;11237011;12721307;15153069;16262699;16624818;17374725;17916383;21540551;21944752;23354120;23445365;24270420;24714562;25152161;25339443;25961505;26084283;26375851;26728094;26992070;27155576;27499296;27600516;28218747;28409910;28649982;28855257;28904123;29437277;29493099;29557506;30315122;31154438;31240163;31844290;32157095;32387766;32502341;32707086;32897882;32938616;32983136;33215859;33936100;33981976;34171305;34471290;35051231;35561310;35580925;35782625;36306796;36658222;36758993;37170631;37392700;38425362;38702428;8621692;9020081;9083049", "class_list": "", "function": "Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs., [RefSeq, PubMed]; COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction., [RefSeq, PubMed]; Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner., [UniProtKB, HAMAP]; Catalyzes the hydroxylation of the 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone at the C6 position and participates in the biosynthesis of ubiquinone (Probable). Catalyzes the reaction through a substrate-mediated reduction pathway, whereby NADH shuttles electrons to 5-methoxy-2-methyl-3-(all-trans-decaprenyl)benzoquinone, which then transfers the electrons to the two Fe(3+) centers (PubMed:23445365). The binding of 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone (DMQn) mediates reduction of the diiron center by nicotinamide adenine dinucleotide (NADH) and initiates oxygen activation for subsequent DMQ hydroxylation (PubMed:23445365). The physiological substrates are 5-methoxy-2-methyl-3-(all-trans-nonaprenyl)benzoquinone (DMQ(9)) and 5-methoxy-2-methyl-3-(all-trans-decaprenyl)benzoquinone (DMQ(10)), however in vitro the enzyme does not have any specificity concerning the length of the polyprenyl tail, and accepts tails of various lengths with similar efficiency (PubMed:23445365, PubMed:28409910). Also has a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner (By similarity). Plays a role in modulating mitochondrial stress responses, acting in the nucleus, perhaps via regulating gene expression, independent of its characterized mitochondrial function in ubiquinone biosynthesis (PubMed:25961505)., [UniProtKB, HAMAP, PubMed, PubMed, PubMed, PubMed]; Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities., [RefSeq, PubMed]; The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 19, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDA9;Q9BTT7;Q9H0T5;Q9UEW5;Q9UNR5", "ec_number_list": [ { "id": "2.1.1.201", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.201", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" }, { "id": "1.14.99.60", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.60", "type": "external" }, { "id": "1.14.13.253", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.253", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.114", "type": "external" }, { "id": "2.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.64", "type": "external" }, { "id": "1.14.15.45", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.45", "type": "external" }, { "id": "1.14.15.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.46", "type": "external" }, { "id": "4.1.1.130", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.130", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0046872 metal ion binding;GO:0160224 3-demethoxyubiquinone 3-hydroxylase (NADH) activity;GO:0004497 monooxygenase activity;GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen", "go_cellular_component": "GO:0031314 extrinsic component of mitochondrial inner membrane;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005694 chromosome", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:2000377 regulation of reactive oxygen species metabolic process;GO:0006744 ubiquinone biosynthetic process;GO:0008340 determination of adult lifespan", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q99807-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5I9-1", "uniprot_id": [ { "id": "NOPC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5I9", "type": "external" } ], "mass": 20123.0, "length": 185, "protein_name": "NOP protein chaperone 1", "gene_name": "NOPCHAP1", "organism": "Human", "refseq_name": "NOP protein chaperone 1", "refseq_ac": [ { "id": "NP_689531", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689531", "type": "external" } ], "gene_names_uniprotkb": "NOPCHAP1; C12orf45", "gene_names_refseq": "C12orf45; DDSR1; NOPCHAP1", "protein_names_uniprotkb": "NOP protein chaperone 1", "protein_names_refseq": "DNA damage-sensitive RNA 1; NOP protein chaperone 1; uncharacterized protein C12orf45", "tax_id": 9606, "disease": "", "pathway": " (hsa:121053)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;18220336;18452278;18669648;19413330;19651622;19664994;19664995;19690332;20068231;21406692;23186163;26992070;31848261;32161166;33367824;34357683;35051231;35580925;39014289;39531497;40307207", "class_list": "", "function": "Client-loading PAQosome/R2TP complex cofactor that selects NOP58 to promote box C/D small nucleolar ribonucleoprotein (snoRNP) assembly. Acts as a bridge between NOP58 and the R2TP complex via RUVBL1:RUVBL2., [UniProtKB, PubMed]; Expression of DDSR1 Long Non-Coding RNA and Genes Involved in the DNA Damage Response in Sperm with DNA Fragmentation., [RefSeq, PubMed]; NOPCHAP1 is a PAQosome cofactor that helps loading NOP58 on RUVBL1/2 during box C/D snoRNP biogenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0062064 box C/D methylation guide snoRNP complex binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000492 box C/D snoRNP assembly", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8N5I9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75943-1", "uniprot_id": [ { "id": "RAD17_HUMAN", "url": "https://www.uniprot.org/uniprot/O75943", "type": "external" } ], "mass": 77055.0, "length": 681, "protein_name": "Cell cycle checkpoint protein RAD17", "gene_name": "RAD17", "organism": "Human", "refseq_name": "cell cycle checkpoint protein RAD17 isoform 1", "refseq_ac": [ { "id": "NP_001265551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265551", "type": "external" } ], "gene_names_uniprotkb": "RAD17; R24L", "gene_names_refseq": "CCYC; HRAD17; R24L; RAD17SP; RAD17; RAD24", "protein_names_uniprotkb": "Cell cycle checkpoint protein RAD17; RF-C/activator 1 homolog; hRad17", "protein_names_refseq": "RAD1 homolog; RAD17 homolog; RF-C activator 1 homolog; Rad17-like protein; cell cycle checkpoint protein (RAD17); cell cycle checkpoint protein RAD17 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5884); (R-HSA-176187); (R-HSA-5685938); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-9709570)", "pathway_count": 8, "publication_count": 219, "publication_id_list": "10051570;10208430;10212258;10232579;10373362;10373512;10435622;10438626;10480350;10500146;10551859;10570149;10570174;10593953;10604467;10608806;10673500;10673501;10710310;10733923;10744977;10777662;10827953;10859164;10884347;10884395;10921897;11080452;11139606;11230166;11237011;11239457;11301010;11376695;11390642;11418864;11447225;11511362;11546806;11551930;11571269;11572977;11602352;11687627;11698410;11715513;11740489;11751635;11780126;11799063;11832208;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12399544;12400013;12545175;12578958;12672690;12676583;12676925;12702766;12750383;12759351;12791985;12851404;12914926;12963847;14500360;14500819;14576433;14603323;14605214;14611806;14624239;14702041;14734547;14871926;15053879;15189136;15190204;15226314;15235112;15359272;15485900;15538388;15665856;15703751;15707391;15743907;15833913;15866171;16148040;16153896;16322561;16327781;16360315;16407120;16530042;16885023;17108107;17349958;17515903;17575048;17591690;17924679;17928296;17962301;17965729;18171670;18317453;18480045;18490454;18539610;18541667;18757400;18805091;18923075;18971343;19121998;19357644;19419957;19965871;20154705;20233725;20729832;20729858;20729859;20959462;20965415;21052091;21240188;21263215;21317932;21325134;21335604;21565612;21659603;21680713;21777809;21804533;22021381;22024395;22194698;22231403;22635276;22661229;22661230;22792074;22977173;23000554;23149936;23186163;23345434;23468639;23481700;23485397;23676219;23810717;24013206;24145406;24534091;24874608;25113031;25122754;25558984;25659039;26145171;27186329;28218747;28228285;28238011;28832583;29242379;29393594;29557506;30315122;30379171;30429286;31092671;31154438;31844290;31848261;32157095;32387766;32488085;32938616;33912179;33968037;33978741;34174284;34185709;34440403;34511607;34561969;35051231;35580925;36010968;36172813;36841485;37713925;38872153;8196638;8702565;8943031;9278511;9278512;9660800;9705271;9837724;9878245;9925639;9933569", "class_list": "", "function": "Essential for sustained cell growth, maintenance of chromosomal stability, and ATR-dependent checkpoint activation upon DNA damage. Has a weak ATPase activity required for binding to chromatin. Participates in the recruitment of the 9-1-1 (RAD1-RAD9-HUS1) complex and RHNO1 onto chromatin, and in CHEK1 activation. Involved in homologous recombination by mediating recruitment of the MRN complex to DNA damage sites. May also serve as a sensor of DNA replication progression., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear translocation promotes proteasomal degradation of human Rad17 protein through the N-terminal destruction boxes., [RefSeq, PubMed]; The C-terminal tail of Rad17, iVERGE, binds the 9-1-1 complex independently of AAA+ ATPase domains to provide another clamp-loader interface., [RefSeq, PubMed]; The Cell Cycle Checkpoint Gene, RAD17 rs1045051, Is Associated with Prostate Cancer Risk., [RefSeq, PubMed]; The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K8X2;D3DWA5;O75714;Q7Z3S4;Q9UNK7;Q9UNR7;Q9UNR8;Q9UPF5", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0003689 DNA clamp loader activity;GO:0140463 chromatin-protein adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000785 chromatin;GO:0035861 site of double-strand break", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:0000076 DNA replication checkpoint signaling;GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0031573 mitotic intra-S DNA damage checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "O75943-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6SA08-1", "uniprot_id": [ { "id": "TSSK4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6SA08", "type": "external" } ], "mass": 37454.0, "length": 328, "protein_name": "Testis-specific serine/threonine-protein kinase 4", "gene_name": "TSSK4", "organism": "Human", "refseq_name": "testis-specific serine/threonine-protein kinase 4 isoform 1", "refseq_ac": [ { "id": "NP_001171668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171668", "type": "external" } ], "gene_names_uniprotkb": "TSSK4; C14orf20; STK22E; TSSK5", "gene_names_refseq": "C14orf20; STK22E; TSK-4; TSK4; TSSK4; TSSK5", "protein_names_uniprotkb": "Testis-specific serine/threonine-protein kinase 4; 2.7.11.1; Serine/threonine-protein kinase 22E; TSK-4; TSSK-4; Testis-specific kinase 4", "protein_names_refseq": "serine/threonine kinase 22E; serine/threonine-protein kinase 22E; testis-specific serine/threonine-protein kinase 4 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:283629)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;15964553;17344846;17525332;18390560;20378615;23054012;25877358;30379171;30683861;35051231", "class_list": "", "function": "Association of some single nucleotide polymorphisms in TSSK4 with male infertility. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Serine/threonine kinase which is involved in male germ cell development and in mature sperm function (By similarity). May be involved in the Cre/Creb signaling pathway (By similarity). Phosphorylates CREB1 on 'Ser-133' in vitro and can stimulate Cre/Creb pathway in cells (PubMed:15964553). Phosphorylates CREM on 'Ser-116' in vitro (By similarity). Phosphorylates ODF2 on 'Ser-95' (By similarity)., [UniProtKB, PubMed, UniProtKB]; TSSK4 was able to induce cell apoptosis in vitro depending on its kinase activity, which leads to abnormal testes weight and apoptosis, shedding light on its function in the process of spermatogenesis and/or spermiogenesis, [RefSeq, PubMed]; This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2TA60;Q6ZNM2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum;GO:0005819 spindle", "go_biological_process": "GO:0009566 fertilization;GO:0030317 flagellated sperm motility;GO:0007286 spermatid development;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q6SA08-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99788-1", "uniprot_id": [ { "id": "CML1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99788", "type": "external" } ], "mass": 42322.0, "length": 373, "protein_name": "Chemerin-like receptor 1", "gene_name": "CMKLR1", "organism": "Human", "refseq_name": "chemerin-like receptor 1 isoform a", "refseq_ac": [ { "id": "NP_001135815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135815", "type": "external" } ], "gene_names_uniprotkb": "CMKLR1; CHEMR23; DEZ", "gene_names_refseq": "CHEMERINR; CMKLR1; ChemR23; DEZ; ERV1; RVER1", "protein_names_uniprotkb": "Chemerin-like receptor 1; Chemokine-like receptor 1; G protein-coupled receptor ChemR23; G protein-coupled receptor DEZ", "protein_names_refseq": "G-protein coupled receptor ChemR23; G-protein coupled receptor DEZ; chemerin receptor; chemerin-like receptor 1 isoform a; chemerin-like receptor 1; chemokine receptor-like 1; chemokine-like receptor 1; orphan G-protein coupled receptor, Dez; resolvin E1 receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:1240); (R-HSA-373076)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "11237011;12522134;12524422;12955148;14530373;14617636;14675762;14759258;15141213;15280385;15326175;15728234;15753205;15929991;16540462;1656963;16754668;16844083;16863918;17139494;17339491;17462861;17876302;18242188;18588883;20044979;21796212;2263478;25892735;27397612;27716822;27862975;28228285;29242379;29279348;29331515;29557506;29769354;30429286;31154438;31217245;31844290;32350084;32488085;32983136;33091337;33717175;33912179;33968037;34087483;35580925;36284347;37539056;37993706;38640229;7498464;7568007;7689702;7775459;7946354;8976386;9144535;9603476", "class_list": "", "function": "(Microbial infection) Acts as a coreceptor for several SIV strains (SIVMAC316, SIVMAC239, SIVMACL7E-FR and SIVSM62A), as well as a primary HIV-1 strain (92UG024-2)., [UniProtKB, PubMed]; Association of Single Nucleotide Polymorphisms (SNPs) of Chemoattractant Receptor23 (ChemR23) Gene with Susceptibility to Allergic Rhinitis., [RefSeq, PubMed]; ChemR23 activation reprograms macrophages toward a less inflammatory phenotype and dampens carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; GPR1 and CMKLR1 Control Lipid Metabolism to Support the Development of Clear Cell Renal Cell Carcinoma., [RefSeq, PubMed]; Receptor for the chemoattractant adipokine chemerin/RARRES2 and for the omega-3 fatty acid derived molecule resolvin E1. Interaction with RARRES2 initiates activation of G proteins G(i)/G(o) and beta-arrestin pathways inducing cellular responses via second messenger pathways such as intracellular calcium mobilization, phosphorylation of MAP kinases MAPK1/MAPK3 (ERK1/2), TYRO3, MAPK14/P38MAPK and PI3K leading to multifunctional effects, like reduction of immune responses, enhancing of adipogenesis and angionesis (PubMed:27716822). Resolvin E1 down-regulates cytokine production in macrophages by reducing the activation of MAPK1/3 (ERK1/2) and NF-kappa-B. Positively regulates adipogenesis and adipocyte metabolism., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K6Y5;O75748;Q3KP37;Q5U0H0;Q99789", "ec_number_list": [], "go_molecular_function": "GO:0004875 complement receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0004950 chemokine receptor activity;GO:0038023 signaling receptor activity;GO:0097003 adipokinetic hormone receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002430 complement receptor mediated signaling pathway;GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q99788-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWT3-1", "uniprot_id": [ { "id": "CUL9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWT3", "type": "external" } ], "mass": 281229.0, "length": 2517, "protein_name": "Cullin-9", "gene_name": "CUL9", "organism": "Human", "refseq_name": "cullin-9", "refseq_ac": [ { "id": "NP_055904", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055904", "type": "external" } ], "gene_names_uniprotkb": "CUL9; H7AP1; KIAA0708; PARC", "gene_names_refseq": "CUL9; H7AP1; PARC", "protein_names_uniprotkb": "Cullin-9; CUL-9; UbcH7-associated protein 1; p53-associated parkin-like cytoplasmic protein", "protein_names_refseq": "CUL-9; UbcH7-associated protein 1; cullin-9; p53-associated parkin-like cytoplasmic protein; parkin-like cytoplasmic p53 binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23113); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 171, "publication_id_list": "10.1101/2023.09.13.557529;10521492;10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15964813;16171779;16401342;16547496;16647857;16672220;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18691976;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23186163;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25576301;25645385;25880248;25892735;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27846572;27862975;27920218;28115426;28218747;28228285;28514659;28832583;28904123;29153394;29242379;29393594;29508533;29557506;29769354;29786170;29789417;29930882;30315122;30410026;30429286;30524438;30610225;30779550;31092671;31844290;32005965;32157095;32284348;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33392160;33444648;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34405274;34509645;34561969;34932366;35051231;35318648;36010968;36284347;38605244;9790970;9887101;9891082", "class_list": "", "function": "Core component of a Cul9-RING ubiquitin-protein ligase complex composed of CUL9 and RBX1 (PubMed:38605244). The CUL9-RBX1 complex mediates ubiquitination and subsequent degradation of BIRC5 and is required to maintain microtubule dynamics and genome integrity. Acts downstream of the 3M complex, which inhibits the ubiquitination of BIRC5 (PubMed:24793696). The CUL9-RBX1 complex also mediates mono-ubiquitination of p53/TP53 (PubMed:38605244). Acts as a cytoplasmic anchor protein in p53/TP53-associated protein complex. Regulates the subcellular localization of p53/TP53 and its subsequent function (PubMed:12526791, PubMed:17332328). Ubiquitinates apurinic/apyrimidinic endodeoxyribonuclease APEX2 (PubMed:38605244). Ubiquitination by the CUL9-RBX1 complex is predominantly mediated by E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2D2 (PubMed:38605244)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; FUBP1 is an authentic substrate of Parkin that might play an important role in development of Parkinson disease pathology along with aminoacyl-tRNA synthetase interacting multifunctional protein type 2, [RefSeq, PubMed]; Noncanonical assembly, neddylation and chimeric cullin-RING/RBR ubiquitylation by the 1.8 MDa CUL9 E3 ligase complex., [RefSeq, PubMed]; Parc, a Parkin-like ubiquitin ligase,is a critical regulator in controlling p53 subcellular cytoplasmic localization and subsequent function., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 58, "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": "O75188;Q5TCY3;Q68CP2;Q68D92;Q8N3W9;Q9BU56", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0031625 ubiquitin protein ligase binding;GO:0061630 ubiquitin protein ligase activity;GO:0160072 ubiquitin ligase complex scaffold activity", "go_cellular_component": "GO:0031467 Cul7-RING ubiquitin ligase complex;GO:0005829 cytosol;GO:0031461 cullin-RING ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0000226 microtubule cytoskeleton organization;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0007088 regulation of mitotic nuclear division", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "Q8IWT3-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6J7-1", "uniprot_id": [ { "id": "CSTP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6J7", "type": "external" } ], "mass": 37353.0, "length": 331, "protein_name": "Centriolar satellite-associated tubulin polyglutamylase complex regulator 1", "gene_name": "CSTPP1", "organism": "Human", "refseq_name": "centriolar satellite-associated tubulin polyglutamylase complex regulator 1 isoform 1", "refseq_ac": [ { "id": "NP_001003676", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003676", "type": "external" } ], "gene_names_uniprotkb": "CSTPP1; C11orf49", "gene_names_refseq": "C11orf49; CSTPP1", "protein_names_uniprotkb": "Centriolar satellite-associated tubulin polyglutamylase complex regulator 1", "protein_names_refseq": "UPF0705 protein C11orf49; centriolar satellite-associated tubulin polyglutamylase complex regulator 1 isoform 1; centriolar satellite-associated tubulin polyglutamylation protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79096)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11230166;11237011;26992070;28218747;28228285;28514659;28904123;29437277;29557506;30410026;30429286;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33936100;33968037;34509645;34782749;35051231;36010968;36241641;39894887;8889548", "class_list": "", "function": "Regulator of the tubulin polyglutamylase complex (TPGC) that controls cytoskeletal organization, nuclear shape, and cilium disassembly by balancing microtubule and actin assembly (PubMed:34782749). Regulates the assembly and stability of the TPGC and thereby modulates polyglutamylation of the microtubule, which antagonizes MAP4 binding (PubMed:34782749)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DQQ8;E9PAX7;Q7L077;Q96CS8;Q9BQH4;Q9BUW5", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005874 microtubule;GO:0034451 centriolar satellite", "go_biological_process": "GO:0061635 regulation of protein complex stability", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9H6J7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20674-1", "uniprot_id": [ { "id": "COX5A_HUMAN", "url": "https://www.uniprot.org/uniprot/P20674", "type": "external" } ], "mass": 16762.0, "length": 150, "protein_name": "Cytochrome c oxidase subunit 5A, mitochondrial", "gene_name": "COX5A", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 5A, mitochondrial precursor", "refseq_ac": [ { "id": "NP_004246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004246", "type": "external" } ], "gene_names_uniprotkb": "COX5A", "gene_names_refseq": "COX-VA; COX5A; COX; MC4DN20; VA", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 5A, mitochondrial; Cytochrome c oxidase polypeptide Va", "protein_names_refseq": "cytochrome c oxidase polypeptide Va; cytochrome c oxidase polypeptide, mitochondrial; cytochrome c oxidase subunit 5A, mitochondrial precursor; cytochrome c oxidase subunit 5A, mitochondrial; cytochrome c oxidase subunit Va; mitochondrial cytochrome c oxidase subunit Va", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); ciliopathy (Disease Ontology:DOID:0060340); mitochondrial complex IV deficiency nuclear type 20 (Disease Ontology:DOID:0070505); traumatic brain injury (Disease Ontology:DOID:0081292); hereditary spastic paraplegia 76 (Disease Ontology:DOID:0110821); aortic atherosclerosis (Disease Ontology:DOID:10230); intellectual disability (Disease Ontology:DOID:1059); Alzheimer's disease (Disease Ontology:DOID:10652); sciatic neuropathy (Disease Ontology:DOID:11446); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); epilepsy (Disease Ontology:DOID:1826); hereditary spastic paraplegia (Disease Ontology:DOID:2476); acute kidney failure (Disease Ontology:DOID:3021); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9377); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9837999); (R-HSA-9864848)", "pathway_count": 6, "publication_count": 240, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11029283;11034341;11237011;11340051;11486029;11545734;11695836;11923310;11959846;12161445;12198491;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1327877;13298683;13538944;14607829;14623864;14651849;14741580;15105503;15223;15250827;15522782;15589136;15870080;16115876;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17101804;17264172;17297443;17298220;17486094;17540029;17579211;18197981;18198340;18344994;18512783;186667;18692468;18991276;19113821;19439913;19487573;19503089;19690164;19822145;19841671;19968714;20068231;20080666;20182617;20351271;20378837;20929863;21750704;21872626;21958598;22262461;22342701;22363791;22427940;22710082;23125284;23150584;23201127;23260140;23270816;23345593;23481700;23564345;23746447;23747254;23775793;23931759;239860;24066844;24275569;24315374;24366874;24383451;24403053;24520911;24714562;24715725;24718924;25418920;25564869;25576301;25579166;25810538;25880248;25926683;25959673;26321642;26375851;26504172;26652033;26759378;26923599;26992070;27496948;27543614;27600516;27642048;27693358;27846572;27893789;28063628;28082314;28199844;28218747;28228285;28247525;28330871;28377575;28396416;28489076;28510447;2853101;28698372;28832583;28834231;28844695;28904123;29154948;29242379;29301859;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;29932645;30030519;30120231;30192525;30315122;30429286;30484775;30524438;30833945;31092671;31154438;31217245;31222486;31327635;31530632;31536960;31611695;31695197;31844290;32157095;32161166;32265295;32317297;32357974;32375044;32387766;32488085;32502341;32758616;32897882;32938616;32983136;33091337;33141586;33257573;33298915;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34211107;3427020;34357683;34509645;34704252;3475708;34932366;34943861;34969438;35051231;35154160;35318648;35561310;35580925;35750769;35870450;36010968;36215666;36241641;36284347;36629048;37373547;37891386;37938771;38297121;38665916;4288886;5666113;6094553;7498159;7623837;7979252;7989588;8119488;8313870;9843204;9878551;9926927", "class_list": "", "function": "COX5A Alleviates Doxorubicin-Induced Cardiotoxicity by Suppressing Oxidative Stress, Mitochondrial Dysfunction and Cardiomyocyte Apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; COX5A as a potential biomarker for disease activity and organ damage in lupus., [RefSeq, PubMed]; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]., [RefSeq]; MiR-204/COX5A axis contributes to invasion and chemotherapy resistance in estrogen receptor-positive breast cancers., [RefSeq, PubMed]; Study points to a role for surfeit 1(SURF1) in promoting the association of cytochrome c oxidase II with the cytochrome c oxidase I.cytochrome c oxidase subunit 4.cytochrome c oxidase subunit 5A subassembly, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 15, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P30045;Q8TB65", "ec_number_list": [], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0046872 metal ion binding;GO:0004129 cytochrome-c oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 24.3, "record_id": "P20674-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27105-1", "uniprot_id": [ { "id": "STOM_HUMAN", "url": "https://www.uniprot.org/uniprot/P27105", "type": "external" } ], "mass": 31731.0, "length": 288, "protein_name": "Stomatin", "gene_name": "STOM", "organism": "Human", "refseq_name": "stomatin isoform a", "refseq_ac": [ { "id": "NP_004090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004090", "type": "external" } ], "gene_names_uniprotkb": "STOM; BND7; EPB72", "gene_names_refseq": "BND7; EPB72; EPB7; STOM", "protein_names_uniprotkb": "Stomatin; Erythrocyte band 7 integral membrane protein; Erythrocyte membrane protein band 7.2; Protein 7.2b", "protein_names_refseq": "erythrocyte band 7 integral membrane protein; erythrocyte membrane protein band 7.2 (stomatin); erythrocyte surface protein band 7.2; protein 7.2b; stomatin 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:2040); (R-HSA-2672351); (R-HSA-6798695); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013406); (R-HSA-9013407); (R-HSA-9013409)", "pathway_count": 10, "publication_count": 465, "publication_id_list": 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"class_list": "", "function": "Mechanosensitive Pannexin 1 Activity Is Modulated by Stomatin in Human Red Blood Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity., [UniProtKB]; Stomatin promotes neutrophil degranulation and vascular leakage in the early stage after severe burn via enhancement of the intracellular binding of neutrophil primary granules to F-actin., [RefSeq, PubMed]; This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B1AM77;Q14087;Q15609;Q5VX96;Q96FK4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0008200 ion channel inhibitor activity;GO:0070063 RNA polymerase binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0044829 host-mediated activation of viral genome replication;GO:0090314 positive regulation of protein targeting to membrane;GO:0034765 regulation of monoatomic ion transmembrane transport;GO:0048524 positive regulation of viral process", "synthesized_glycan_count": 0, "hit_score": 47.5, "record_id": "P27105-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CD2-1", "uniprot_id": [ { "id": "COAC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CD2", "type": "external" } ], "mass": 22395.0, "length": 204, "protein_name": "Phosphopantothenoylcysteine decarboxylase", "gene_name": "PPCDC", "organism": "Human", "refseq_name": "phosphopantothenoylcysteine decarboxylase isoform b", "refseq_ac": [ { "id": "NP_001288030", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288030", "type": "external" } ], "gene_names_uniprotkb": "PPCDC; COAC; MDS018; PRO34154", "gene_names_refseq": "MDS018; PPC-DC; PPCDC; coaC", "protein_names_uniprotkb": "Phosphopantothenoylcysteine decarboxylase; 4.1.1.36; CoaC; PPC-DC", "protein_names_refseq": "phosphopantothenoylcysteine decarboxylase isoform b", "tax_id": 9606, "disease": "neurodegeneration with brain iron accumulation (Disease Ontology:DOID:0110734); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:60490); (R-HSA-196783)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "11237011;11479594;11923312;11994049;12095677;12554685;12906824;12975309;14501115;14514684;14523052;15105273;15581364;15893380;16040613;16272150;17242360;19615748;22424782;22544926;23301498;23481700;24715725;25576301;25645385;25892735;26154972;26375851;26992070;27600516;28218747;28228285;28649982;28832583;28860189;29242379;29437277;29493099;29508533;29557506;29632046;29786170;30379171;30524438;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35318648;36010968;36215666;36241641;36284347;36983025", "class_list": "", "function": "Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]., [RefSeq]; Catalyzes the decarboxylation of the cysteine moiety of 4-phosphopantothenoylcysteine to form 4'-phosphopantotheine and this reaction forms part of the biosynthesis of coenzyme A., [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": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96SX0;Q9HC17", "ec_number_list": [ { "id": "4.1.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.36", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0010181 FMN binding;GO:0004633 phosphopantothenoylcysteine decarboxylase activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005829 cytosol;GO:0071513 phosphopantothenoylcysteine decarboxylase complex", "go_biological_process": "GO:0015937 coenzyme A biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q96CD2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUM3-1", "uniprot_id": [ { "id": "S39A9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUM3", "type": "external" } ], "mass": 32251.0, "length": 307, "protein_name": "Zinc transporter ZIP9", "gene_name": "SLC39A9", "organism": "Human", "refseq_name": "zinc transporter ZIP9 isoform 2", "refseq_ac": [ { "id": "NP_001239077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239077", "type": "external" } ], "gene_names_uniprotkb": "SLC39A9; PRO1377; ZIP9", "gene_names_refseq": "SLC39A9; ZIP-9; ZIP9", "protein_names_uniprotkb": "Zinc transporter ZIP9; Solute carrier family 39 member 9; ZIP-9; Zrt- and Irt-like protein 9", "protein_names_refseq": "ZRT/IRT-like protein 9; solute carrier family 39 (zinc transporter), member 9; zinc transporter 9; zinc transporter SLC39A9; zinc transporter ZIP9 isoform 2; zinc transporter ZIP9; zrt- and Irt-like protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:55334)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;12975309;19064571;19420709;23481700;23505453;23584533;24715725;25014355;25502872;25576301;25813380;25892735;26154972;26992070;27846572;28219737;28228285;28832583;28834231;28904123;29242379;29314611;29557506;29632711;29769354;30315122;30429286;30573663;31154438;31217245;31506605;31844290;31937595;32157095;32161166;32350084;32387766;32488085;32502341;32938616;33141586;33298915;33592498;33912179;33936100;33968037;34171305;34357683;34509645;34555425;34706862;35051231;35154160;35251023;35580925;36010968;39173055", "class_list": "", "function": "Androgens promote vascular endothelial cell proliferation through activation of a ZIP9-dependent inhibitory G protein/PI3K-Akt/Erk/cyclin D1 pathway., [RefSeq, PubMed]; Genome-wide CRISPR/Cas9 screen identifies SLC39A9 and PIK3C3 as crucial entry factors for Ebola virus infection. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SLC39A9 functions to regulate zinc homeostasis in the secretory pathway without significantly altering cytosolic zinc homeostasis., [RefSeq, PubMed]; Study found that the androgen dihydrotestosterone (DHT) might function via a novel membrane androgen receptor (mAR-SLC39A9) to increase nuclear androgen receptor (nAR)-negative bladder cancer (BCa) cell migration and invasion. DHT/mAR-SLC39A9 might function by altering Galphai protein-mediated MAPK/MMP9 intracellular signaling to increase nAR-negative BCa cell migration and invasion., [RefSeq, PubMed]; Transports zinc ions across cell and organelle membranes into the cytoplasm and regulates intracellular zinc homeostasis. Participates in the zinc ions efflux out of the secretory compartments. Also functions as membrane androgen receptor that mediates, through a G protein, the non-classical androgen signaling pathway, characterized by the activation of MAPK3/MAPK1 (Erk1/2) and transcription factors CREB1 or ATF1. Moreover, has dual functions as membrane-bound androgen receptor and as an androgen-dependent zinc transporter both of which are mediated through an inhibitory G protein (Gi) that mediates both MAP kinase and zinc signaling leading to the androgen-dependent apoptotic process., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; ZIP9 Is a Druggable Determinant of Sex Differences in Melanoma., [RefSeq, PubMed]; ZIP9 mediates testosterone promotion of apoptosis and is widely expressed in human tissues and up-regulated in malignant breast and prostate tissues, suggesting that it is a potential therapeutic target for treating breast and prostate cancers., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "G3V5J8;Q53HN3;Q5MJQ0;Q6P2Q1;Q86WY2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0004930 G protein-coupled receptor activity;GO:0005497 androgen binding;GO:0022883 zinc efflux transmembrane transporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0031966 mitochondrial membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0070830 bicellular tight junction assembly;GO:0006882 intracellular zinc ion homeostasis;GO:1905562 regulation of vascular endothelial cell proliferation;GO:2000654 regulation of cellular response to testosterone stimulus", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9NUM3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14435-1", "uniprot_id": [ { "id": "GALT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14435", "type": "external" } ], "mass": 72610.0, "length": 633, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 3", "gene_name": "GALNT3", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 3 isoform 1", "refseq_ac": [ { "id": "NP_004473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004473", "type": "external" } ], "gene_names_uniprotkb": "GALNT3", "gene_names_refseq": "GALNT3; GalNAc-T3; HFTC1; HFTC; HHS", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 3; 2.4.1.41; GalNAc-T3; Polypeptide GalNAc transferase 3; Protein-UDP acetylgalactosaminyltransferase 3; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3; pp-GaNTase 3", "protein_names_refseq": "GalNAc transferase 3; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3); polypeptide GalNAc transferase 3; polypeptide GalNAc-transferase T3; polypeptide N-acetylgalactosaminyltransferase 3 isoform 1; pp-GaNTase 3; protein-UDP acetylgalactosaminyltransferase 3", "tax_id": 9606, "disease": "hyperphosphatemic familial tumoral calcinosis (Disease Ontology:DOID:0111063); obsolete tumoral calcinosis, hyperphosphatemic, familial, 1 (MONDO:MONDO:0008897)", "pathway": " (hsa:2591); (R-HSA-190372); (R-HSA-5083625); (R-HSA-913709)", "pathway_count": 4, "publication_count": 84, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10330415;10430883;10753916;11042166;11237011;11283017;11294897;11304796;11821425;12464682;12708471;12855678;1329093;1379698;15133511;15486459;15489334;15560372;15599692;15620693;15687324;15815621;15863029;16151858;16528452;1656221;16597617;16638743;16940445;17113861;17311862;17351710;18537974;20358599;21269460;22183981;23090970;23481700;23584533;24038392;24190977;24643043;25153226;25576301;28904123;29242379;29393594;29632046;29741879;29786170;30917321;31071912;31932717;32125652;32157095;32350084;32776306;33052627;33298915;33537174;33968037;33981976;34185709;35051231;35414641;35580925;36056254;36162588;37074911;37919050;38775215;7655172;8338191;8622701;8663203;9295285;9394011;9417100;9435216;9592121;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 (PubMed:16638743, PubMed:31932717, PubMed:8663203, PubMed:9295285). Has activity toward HIV envelope glycoprotein gp120, EA2, MUC2, MUC1A and MUC5AC (PubMed:8663203, PubMed:9295285). Probably glycosylates fibronectin in vivo (PubMed:9295285). Glycosylates FGF23 (PubMed:16638743, PubMed:31932717)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Downregulation of circ-RAPGEF5 inhibits colorectal cancer progression by reducing the expression of polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3)., [RefSeq, PubMed]; GALNT3 protects against phosphate-induced calcification in vascular smooth muscle cells by enhancing active FGF23 and inhibiting the wnt/beta-catenin signaling pathway. Erratum:[Cell Signal. 2025 Aug;132:111853. doi: 10.1016/j.cellsig.2025.111853. PMID: 40348615], [RefSeq, PubMed]; Polypeptide N-acetylgalactosamine transferase 3: a post-translational writer on human health. Review article, [RefSeq, PubMed]; Relationship between rs7586085, GALNT3 and CCDC170 gene polymorphisms and the risk of osteoporosis among the Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; The EMT-Related Genes GALNT3 and OAS1 are Associated with Immune Cell Infiltration and Poor Prognosis in Lung Adenocarcinoma., [RefSeq, PubMed]; This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 779, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q53TG9;Q7Z476", "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:0030145 manganese ion binding;GO:0005509 calcium ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity;GO:0016740 transferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0008543 fibroblast growth factor receptor signaling pathway", "synthesized_glycan_count": 7434, "hit_score": 9.7, "record_id": "Q14435-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100010010000.111.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22415-1", "uniprot_id": [ { "id": "USF1_HUMAN", "url": "https://www.uniprot.org/uniprot/P22415", "type": "external" } ], "mass": 33538.0, "length": 310, "protein_name": "Upstream stimulatory factor 1", "gene_name": "USF1", "organism": "Human", "refseq_name": "upstream stimulatory factor 1 isoform 1", "refseq_ac": [ { "id": "NP_001263302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263302", "type": "external" } ], "gene_names_uniprotkb": "USF1; BHLHB11; USF", "gene_names_refseq": "FCHL1; FCHL; HYPLIP1; MLTFI; MLTF; UEF; USF1; bHLHb11", "protein_names_uniprotkb": "Upstream stimulatory factor 1; Class B basic helix-loop-helix protein 11; Major late transcription factor 1; bHLHb11", "protein_names_refseq": "class B basic helix-loop-helix protein 11; major late transcription factor 1; upstream stimulatory factor 1 isoform 1; upstream stimulatory factor 1", "tax_id": 9606, "disease": "cardiovascular system disease (Disease Ontology:DOID:1287); type 2 diabetes mellitus (Disease Ontology:DOID:9352); hyperlipidemia, combined, 1 (MONDO:MONDO:0011237)", "pathway": " (hsa:7391); (R-HSA-9018519); (R-HSA-9824585)", "pathway_count": 3, "publication_count": 230, "publication_id_list": "10500157;10587587;10828826;10873660;11010967;11034064;11103799;11136970;11165043;11237011;11345900;11410592;11452016;11532965;11581164;11682626;11856727;11964381;12062444;12498683;12612073;12851711;12959972;1321344;14573800;14631847;14675539;14991056;15001666;15276198;15282324;15343269;15345050;1537333;1537334;15514030;15543135;15695812;15729346;15986123;16009131;16046058;16087863;16113099;16303920;1630819;16531745;16980581;17013392;17182843;17277772;17463000;17495528;17510434;17637753;17666587;17690249;17952075;18187655;18219272;18256232;18322535;18358809;18476782;18483556;18533032;18697795;18762174;18805503;18812475;19001364;19020303;19098913;19274700;19295514;19303849;19321454;19383337;19389701;19717472;19718048;20068231;20219941;20220130;20498280;20570965;20682797;21106759;21151129;21445275;21573489;2181374;21835891;21873430;21878914;21934649;21940756;22056668;22265404;22492511;2249772;22545144;22704330;23145106;23172872;23192763;23303788;23403292;23435229;23723241;23906331;24167369;24267888;24371278;24714562;24715725;24735615;24854081;24885040;24973012;24998469;25194820;25218447;25296600;25365482;25433557;25542856;25576301;25633194;25645385;25663755;25674852;25728767;25880248;26056233;26153859;26154972;26204489;26375851;26462610;26479350;26694611;26728094;26758079;26811146;26992070;27062924;27397612;27600516;27846572;27862975;27886276;27920218;28218747;28228285;28539435;28832583;28834231;28904123;2919170;29242379;29331515;29437277;29485866;29493099;29508533;29557506;29632711;29786170;29871931;30315122;30410026;3045126;30515787;30779550;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32488085;32502341;3281094;32897882;32938616;32983136;33100333;33141586;33298915;33392160;33592498;33691108;33912179;33968037;34561969;34932366;3498214;35051231;35318648;35580127;35580925;36284347;36376872;3677090;37938771;38578825;39385481;7559524;7813420;7935485;7937828;8195246;8197458;8306960;8306979;8419924;8876171;8921401;9201922;9338790;9388265;9611253;9671459;9731700;9758418", "class_list": "", "function": "Aging-related defects in macrophage function are driven by MYC and USF1 transcriptional programs., [RefSeq, PubMed]; Hepatitis B virus suppresses complement C9 synthesis by limiting the availability of transcription factor USF-1 and inhibits formation of membrane attack complex: implications in disease pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013]., [RefSeq]; Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters., [UniProtKB]; USF1 Silencing Reduces Ferroptosis Resistance in Prostate Cancer Cells., [RefSeq, PubMed]; Upstream transcription factor 1 has a part in the etiology of familial combined hyperlipidemia and its component traits, although the mechanism of causality still remains largely unknown. Review article, [RefSeq, PubMed]; We report the molecular cloning and functional characterization of a novel alternative splicing variant of human USF1 (hUSF1), termed USF1/BD., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBZ4;Q5SY46;Q7Z5Y1", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0019086 late viral transcription;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0032869 cellular response to insulin stimulus;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 23.3, "record_id": "P22415-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15432-1", "uniprot_id": [ { "id": "COPT2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15432", "type": "external" } ], "mass": 15681.0, "length": 143, "protein_name": "Protein SLC31A2", "gene_name": "SLC31A2", "organism": "Human", "refseq_name": "protein SLC31A2", "refseq_ac": [ { "id": "NP_001851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001851", "type": "external" } ], "gene_names_uniprotkb": "SLC31A2; COPT2; CTR2", "gene_names_refseq": "COPT2; CTR2; SLC31A2; hCTR2", "protein_names_uniprotkb": "Protein SLC31A2; Copper transporter 2; Solute carrier family 31 member 2; hCTR2", "protein_names_refseq": "copper transporter 2; probable low affinity copper uptake protein 2; protein SLC31A2; solute carrier family 31 (copper transporter), member 2; solute carrier family 31 (copper transporters), member 2", "tax_id": 9606, "disease": "Wilson disease (Disease Ontology:DOID:893)", "pathway": " (hsa:1318)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;17081983;17617060;17944601;19509135;23481700;23564780;25892735;26154972;26205368;26411550;26992070;27920218;28507097;28737129;29557506;29786170;30429286;31083932;31154438;31848261;32938616;32983136;35051231;35580925;36010968;36284347;9207117", "class_list": "", "function": "11 single-nucleotide polymorphisms (SNPs) in CTR1, CTR2, ATP7A, and ATP7B were genotyped in these patients., [RefSeq, PubMed]; CTR2 functions by limiting drug accumulation, and its expression correlates with the sensitivity of human ovarian carcinoma cell lines to cisplatin., [RefSeq, PubMed]; Ctr2 promotes copper uptake at the plasma membrane and plays a role in regulating copper levels in COS-7 cells, [RefSeq, PubMed]; Decreased expression of CTR2 is associated with clear cell renal cell carcinoma., [RefSeq, PubMed]; Does not function as a copper(1+) importer in vivo (By similarity). However, in vitro functions as a low-affinity copper(1+) importer (PubMed:17617060, PubMed:17944601). Regulator of SLC31A1 which facilitates the cleavage of the SLC31A1 ecto-domain or which stabilizes the truncated form of SLC31A1 (Truncated CTR1 form), thereby drives the SLC31A1 truncated form-dependent endosomal copper export and modulates the copper and cisplatin accumulation via SLC31A1 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Gene duplication and neo-functionalization in the evolutionary and functional divergence of the metazoan copper transporters Ctr1 and Ctr2, [RefSeq, PubMed]; HCTR2 is as an oligomeric membrane protein localized in lysosomes, which stimulates copper delivery to the cytosol of human cells at relatively high copper concentrations., [RefSeq, PubMed]; Increased CTR2 expression is associated with platinum resistance in epithelial ovarian cancer., [RefSeq, PubMed]; Studied the interaction of CTR1 and CTR2 in fully malignant HEK293T and OVCAR8 human ovarian cancer cells using a CRISPR-Cas9 knock out system., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005375 copper ion transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0055037 recycling endosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0006825 copper ion transport;GO:0015677 copper ion import;GO:1902311 regulation of copper ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "O15432-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1W2PPG7-1", "uniprot_id": [ { "id": "GBG14_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1W2PPG7", "type": "external" } ], "mass": 11506.0, "length": 107, "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-14", "gene_name": "GNG14", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-14", "refseq_ac": [ { "id": "NP_001303621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303621", "type": "external" } ], "gene_names_uniprotkb": "GNG14", "gene_names_refseq": "GNG14; HG3K", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-14", "protein_names_refseq": "guanine nucleotide binding protein (G protein), gamma 12-like; guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-14; heterotrimeric guanine nucleotide-binding protein 3K; putative guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-14", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:105372280)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "A0A1W2PRI1", "ec_number_list": [], "go_molecular_function": "GO:0031681 G-protein beta-subunit binding", "go_cellular_component": "GO:0005834 heterotrimeric G-protein complex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1W2PPG7-1", "record_type": "protein", "filter_code": "0000000.0000011.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08034-1", "uniprot_id": [ { "id": "CXB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P08034", "type": "external" } ], "mass": 32025.0, "length": 283, "protein_name": "Gap junction beta-1 protein", "gene_name": "GJB1", "organism": "Human", "refseq_name": "gap junction beta-1 protein", "refseq_ac": [ { "id": "NP_000157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000157", "type": "external" } ], "gene_names_uniprotkb": "GJB1; CX32", "gene_names_refseq": "CMTX1; CMTX; CX32; GJB1", "protein_names_uniprotkb": "Gap junction beta-1 protein; Connexin-32; Cx32; GAP junction 28 kDa liver protein", "protein_names_refseq": "GAP junction 28 kDa liver protein; connexin-32; gap junction beta-1 protein; gap junction protein, beta 1, 32kDa", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 3 (Disease Ontology:DOID:0050540); Charcot-Marie-Tooth disease X-linked dominant 1 (Disease Ontology:DOID:0110209); extrahepatic cholestasis (Disease Ontology:DOID:13619); autoimmune thyroiditis (Disease Ontology:DOID:7188)", "pathway": " (hsa:2705); (R-HSA-190704); (R-HSA-190827); (R-HSA-190861)", "pathway_count": 4, "publication_count": 89, "publication_id_list": "10071100;10191254;10220155;10234007;10586284;10646523;10732813;10737979;10873293;10894999;10923043;10938190;11030070;11140841;11180613;11237011;11437164;11438991;11562788;11571214;11723288;11835375;11891346;12185164;12207932;12325071;12402337;12460545;12477701;12497641;12536289;12707076;14627639;15241803;15383278;15468313;15536180;15852376;15947997;17200141;1850831;20166139;2170122;23481700;24275569;2460334;27234031;27600516;2875078;29557506;30429286;32157095;32488085;35051231;36394156;36397455;38250613;38347637;7477983;7500030;7833935;7929580;8004109;8162049;8266101;8390988;8628473;8698335;8733054;8737658;8807343;8829637;8889588;8956046;8990008;9018031;9099841;9184217;9187667;9272161;9361298;9401007;9452025;9452099;9469569;9633821;9818870;9856562;9888385", "class_list": "", "function": "A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease., [RefSeq, PubMed]; Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report., [RefSeq, PubMed]; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell., [UniProtKB]; Role of connexin 32 in the directional differentiation of induced pluripotent stem cells into hepatocytes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8R2;D3DVV2;Q5U0S4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0007399 nervous system development;GO:0016264 gap junction assembly;GO:0007154 cell communication", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "P08034-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99062-1", "uniprot_id": [ { "id": "CSF3R_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99062", "type": "external" } ], "mass": 92156.0, "length": 836, "protein_name": "Granulocyte colony-stimulating factor receptor", "gene_name": "CSF3R", "organism": "Human", "refseq_name": "granulocyte colony-stimulating factor receptor isoform a precursor", "refseq_ac": [ { "id": "NP_000751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000751", "type": "external" } ], "gene_names_uniprotkb": "CSF3R; GCSFR", "gene_names_refseq": "CD114; CSF3R; GCSFR; SCN7", "protein_names_uniprotkb": "Granulocyte colony-stimulating factor receptor; G-CSF receptor; G-CSF-R", "protein_names_refseq": "CD114 antigen; G-CSF receptor; G-CSF-R; colony stimulating factor 3 receptor (granulocyte); granulocyte colony-stimulating factor receptor isoform a precursor", "tax_id": 9606, "disease": "severe congenital neutropenia (Disease Ontology:DOID:0050590); myelodysplastic syndrome (Disease Ontology:DOID:0050908); chronic neutrophilic leukemia (Disease Ontology:DOID:0080187); chronic myelomonocytic leukemia (Disease Ontology:DOID:0080188); hereditary neutrophilia (Disease Ontology:DOID:0090120); severe congenital neutropenia 7 (Disease Ontology:DOID:0112129); neutropenia (Disease Ontology:DOID:1227); cystic fibrosis (Disease Ontology:DOID:1485); myeloproliferative neoplasm (Disease Ontology:DOID:2226); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:1441); (R-HSA-449836); (R-HSA-9616222); (R-HSA-9674555); (R-HSA-9705462)", "pathway_count": 5, "publication_count": 102, "publication_id_list": "10233885;10330422;10395686;10438516;10449521;10537111;10643150;11237011;11242107;11340171;11369759;11564866;11684017;11867521;12133942;12242300;12469119;12558796;12702500;12869508;14512302;14517214;15107455;1530796;15601820;16488976;16492764;16720384;16751774;1701053;17063141;17127321;1717255;17363902;17562868;17879956;18467591;18644434;18776924;19120359;19453968;19620628;20661648;21471526;2147944;21716315;21993314;22371011;22474248;23001182;23291588;23604229;23744080;24212483;24220695;24379003;24584857;24753537;25180155;2524830;25491280;25662098;25784653;25821085;25858548;26095744;26324699;26637732;26875968;2721961;27581359;27587251;29431622;29557506;30644389;32387766;32938616;32983136;35580925;38642470;38879086;39359028;7512720;7514305;7521688;7615501;7805849;7862113;8197119;8554326;8695841;8846917;8977235;9177240;9187659;9226159;9368043;9422780;9790917;9864141;9864153;9885206", "class_list": "", "function": "Analysis of CSF3R mutations in atypical chronic myeloid leukemia and other myeloid malignancies., [RefSeq, PubMed]; CSF3R mutated myeloid neoplasms: Beyond chronic neutrophilic leukemia., [RefSeq, PubMed]; Interactions of the CSF3R polymorphism and early stress on future orientation: evidence for the differential model of stress-related growth. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differentiation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface., [UniProtKB, PubMed]; The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 69, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0019955 cytokine binding;GO:0004896 cytokine receptor activity;GO:0038023 signaling receptor activity;GO:0051916 granulocyte colony-stimulating factor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0005765 lysosomal membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006952 defense response;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0019221 cytokine-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q99062-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15194-1", "uniprot_id": [ { "id": "CTDSL_HUMAN", "url": "https://www.uniprot.org/uniprot/O15194", "type": "external" } ], "mass": 31129.0, "length": 276, "protein_name": "CTD small phosphatase-like protein", "gene_name": "CTDSPL", "organism": "Human", "refseq_name": "CTD small phosphatase-like protein isoform 1", "refseq_ac": [ { "id": "NP_001008393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008393", "type": "external" } ], "gene_names_uniprotkb": "CTDSPL; C3orf8; NIF1; NIFL; SCP3; YA22", "gene_names_refseq": "C3orf8; CTDSPL; HYA22; PSR1; RBSP3; SCP3", "protein_names_uniprotkb": "CTD small phosphatase-like protein; 3.1.3.16; CTDSP-like; Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 3; NIF-like protein; NLI-interacting factor 1; Nuclear LIM interactor-interacting factor 1; Protein YA22; RBSP3; SCP3; Small C-terminal domain phosphatase 3; Small CTD phosphatase 3; hYA22", "protein_names_refseq": "CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like; CTD small phosphatase-like protein isoform 1; CTD small phosphatase-like protein; CTDSP-like; NIF-like protein; NLI-interacting factor 1; RB protein serine phosphatase from chromosome 3; carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 3; nuclear LIM interactor-interacting factor 1; small C-terminal domain phosphatase 3; small CTD phosphatase 3", "tax_id": 9606, "disease": "lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:10217)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;12721286;15051889;15681389;16533400;18058037;19413330;29093164;29382357;29493099;29557506;29672635;29786170;31774910;31844290;33141586;33537174;33592498;33968037;34087483;34171305;34185709;35051231;37341065;37938771;9179494", "class_list": "", "function": "Analysis of RBSP3/HYA22located in the AP20 region, and evidence for tumor suppressor function, [RefSeq, PubMed]; Hsa-miR-503-5p regulates CTDSPL to accelerate cisplatin resistance and angiogenesis of lung adenocarcinoma cells., [RefSeq, PubMed]; Our data also suggests the importance ofLIMD1 and CDC25A in conjunction with HPV for use as diagnostic and prognostic markers of HNSCC, whereas RBSP3 as a prognostic marker only. Publication Status: Online-Only, [RefSeq, PubMed]; Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells (By similarity). Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation., [UniProtKB, PubMed]; Tumor suppressor properties of the small C-terminal domain phosphatases in non-small cell lung cancer., [RefSeq, PubMed]; We have presented herein the novel finding that miR-181b contributes to cell cycle progression through depressing the expression of CTDSPL, which in turn activates the downstream effector E2F1 and promotes S-phase entry. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3ZTU0;Q70KI4;Q7Z5Q2", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008420 RNA polymerase II CTD heptapeptide repeat phosphatase activity;GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "O15194-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6Q6R5-1", "uniprot_id": [ { "id": "CRIP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6Q6R5", "type": "external" } ], "mass": 24088.0, "length": 217, "protein_name": "Cysteine-rich protein 3", "gene_name": "CRIP3", "organism": "Human", "refseq_name": "cysteine-rich protein 3 isoform 1", "refseq_ac": [ { "id": "NP_996805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_996805", "type": "external" } ], "gene_names_uniprotkb": "CRIP3; CRP3", "gene_names_refseq": "CRIP3; CRP-3; TLP-A; TLP; h6LIMo", "protein_names_uniprotkb": "Cysteine-rich protein 3; CRP-3; Chromosome 6 LIM domain only protein; h6LIMo", "protein_names_refseq": "chromosome 6 LIM domain only protein; cysteine-rich protein 3 isoform 1; thymus LIM protein TLP-A", "tax_id": 9606, "disease": "", "pathway": " (hsa:401262)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;15380775;30890736", "class_list": "", "function": "TLP-mediated global transcriptional repression after double-strand DNA breaks slows down DNA repair and induces apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2A436;Q5T043;Q6Q6R4;Q6Q6R6;Q6Q6R7", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6Q6R5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYJ2-1", "uniprot_id": [ { "id": "CJ067_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYJ2", "type": "external" } ], "mass": 63656.0, "length": 551, "protein_name": "Uncharacterized protein C10orf67, mitochondrial", "gene_name": "C10orf67", "organism": "Human", "refseq_name": "uncharacterized protein C10orf67, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_714925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_714925", "type": "external" } ], "gene_names_uniprotkb": "C10orf67; LINC01552", "gene_names_refseq": "C10orf115; C10orf67; LINC01552", "protein_names_uniprotkb": "Uncharacterized protein C10orf67, mitochondrial", "protein_names_refseq": "long intergenic non-protein coding RNA 1552; uncharacterized protein C10orf67, mitochondrial isoform 1; uncharacterized protein C10orf67, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:256815)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;18723019;27812135;28411811;32983136;35051231;36010968", "class_list": "", "function": "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": 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": "A8MUP9;Q5QP74;Q5SWD4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8IYJ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NMK7-1", "uniprot_id": [ { "id": "CPS4L_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NMK7", "type": "external" } ], "mass": 20727.0, "length": 179, "protein_name": "Putative cleavage and polyadenylation specificity factor subunit 4-like protein", "gene_name": "CPSF4L", "organism": "Human", "refseq_name": "putative cleavage and polyadenylation specificity factor subunit 4-like protein", "refseq_ac": [ { "id": "NP_001123357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123357", "type": "external" } ], "gene_names_uniprotkb": "CPSF4L", "gene_names_refseq": "CPSF4L", "protein_names_uniprotkb": "Putative cleavage and polyadenylation specificity factor subunit 4-like protein", "protein_names_refseq": "putative cleavage and polyadenylation specificity factor subunit 4-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:642843)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. CPSF4 binds RNA polymers with a preference for poly(U)., [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": "A8MU95;B2RXI9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005847 mRNA cleavage and polyadenylation specificity factor complex", "go_biological_process": "GO:0031124 mRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NMK7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAZ1-1", "uniprot_id": [ { "id": "CLK4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAZ1", "type": "external" } ], "mass": 57492.0, "length": 481, "protein_name": "Dual specificity protein kinase CLK4", "gene_name": "CLK4", "organism": "Human", "refseq_name": "dual specificity protein kinase CLK4", "refseq_ac": [ { "id": "NP_065717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065717", "type": "external" } ], "gene_names_uniprotkb": "CLK4", "gene_names_refseq": "CLK4", "protein_names_uniprotkb": "Dual specificity protein kinase CLK4; 2.7.12.1; CDC-like kinase 4", "protein_names_refseq": "dual specificity protein kinase CLK4; protein serine threonine kinase Clk4", "tax_id": 9606, "disease": "", "pathway": " (hsa:57396)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11170754;11237011;12705895;12824502;17081983;17344846;18452278;18669648;18691976;19168442;19369195;23186163;25880248;27126587;29242379;31217245;31844290;32157095;32357974;32897882;32938616;32983136;33592498;33717175;33912179;33936100;33968037;34171305;35494241;36010968", "class_list": "", "function": "Cdc2-like kinases and DNA topoisomerase I regulate alternative splicing of tissue factor in human endothelial cells., [RefSeq, PubMed]; Clk1, Clk2 and Clk4 prevent chromatin breakage by regulating the Aurora B-dependent abscission checkpoint. Publication Status: Online-Only, [RefSeq, PubMed]; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex and may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates SRSF1 and SRSF3. Required for the regulation of alternative splicing of MAPT/TAU. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0004712 protein serine/threonine/tyrosine kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9HAZ1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQ75-1", "uniprot_id": [ { "id": "CMS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ75", "type": "external" } ], "mass": 31884.0, "length": 279, "protein_name": "Protein CMSS1", "gene_name": "CMSS1", "organism": "Human", "refseq_name": "protein CMSS1 isoform 2", "refseq_ac": [ { "id": "NP_001161396", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161396", "type": "external" } ], "gene_names_uniprotkb": "CMSS1; C3orf26", "gene_names_refseq": "C3orf26; CMSS1", "protein_names_uniprotkb": "Protein CMSS1; Cms1 ribosomal small subunit homolog", "protein_names_refseq": "protein CMSS1 isoform 2; protein CMSS1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84319)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;20068231;24129315;25576301;25645385;26154972;26992070;27543614;27600516;28510447;28832583;28834231;28904123;29242379;29557506;30379171;31154438;31217245;31844290;32157095;32357974;32897882;32938616;33298915;33465208;33592498;33912179;33968037;33981976;34087483;34171305;34405274;34932366;35051231;35318648;35580925;36284347;40596516;40914422", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K5S7;B4DUM1;E9PHS3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9BQ75-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50416-1", "uniprot_id": [ { "id": "CPT1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P50416", "type": "external" } ], "mass": 88368.0, "length": 773, "protein_name": "Carnitine O-palmitoyltransferase 1, liver isoform", "gene_name": "CPT1A", "organism": "Human", "refseq_name": "carnitine O-palmitoyltransferase 1, liver isoform isoform 2", "refseq_ac": [ { "id": "NP_001027017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027017", "type": "external" } ], "gene_names_uniprotkb": "CPT1A; CPT1", "gene_names_refseq": "CPT I; CPT1-L; CPT1A; CPT1; CPTI-L; L-CPT1", "protein_names_uniprotkb": "Carnitine O-palmitoyltransferase 1, liver isoform; 2.3.1.-; 2.3.1.21; CPT I; CPT1-L; CPTI-L; Carnitine O-palmitoyltransferase I, liver isoform; Carnitine palmitoyltransferase 1A; Succinyltransferase CPT1A", "protein_names_refseq": "carnitine O-palmitoyltransferase 1, liver isoform isoform 2; carnitine palmitoyltransferase 1A (liver); carnitine palmitoyltransferase I, liver; succinyltransferase CPT1A", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); carnitine palmitoyltransferase I deficiency (Disease Ontology:DOID:0090129); alcoholic hepatitis (Disease Ontology:DOID:12351); lipid metabolism disorder (Disease Ontology:DOID:3146); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); prolactinoma (Disease Ontology:DOID:5394); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1374); (R-HSA-1989781); (R-HSA-200425); (R-HSA-9933387)", "pathway_count": 4, "publication_count": 156, "publication_id_list": "10559218;10677481;10777541;11237011;11267664;11350182;11356169;11441142;11790793;12111367;12118000;12177166;12189492;12377782;12505311;12582161;14517221;14711372;15060529;15067378;15110323;15130092;15635043;15669684;16271724;16380219;16651524;16972786;17223360;18540824;18556348;18719978;18848529;19088433;19710929;1971514;19934321;20110263;20233797;20457939;20538056;21990363;22123817;22871568;23481700;24196956;24277613;24715725;25418920;25576301;25645385;25810538;25880248;25892735;26154972;26768311;26811146;26828774;26992070;27397612;27452731;27846572;27862975;27920218;28218747;28510447;28832583;28834231;28904123;29242379;29331515;29393594;29425493;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34932366;35051231;35083852;35318648;35580925;36010968;36241641;36284347;36581221;37938771;38016475;38494680;38665916;38767438;38823763;38904677;39456670;40596516;7685352;7711730;7892212;8060328;8156598;8402897;8622974;8647822;9012850;9048718;9062340;9099716;9344464;9399886;9685390;9691089;9706223;9748239", "class_list": "", "function": "Augmenter of liver regeneration knockout aggravates tubular ferroptosis and macrophage activation by regulating carnitine palmitoyltransferase-1A-induced lipid metabolism in diabetic nephropathy., [RefSeq, PubMed]; CPT1A loss disrupts BCAA metabolism to confer therapeutic vulnerability in TP53-mutated liver cancer., [RefSeq, PubMed]; CPT1A mediates the succinylation of SP5 which activates transcription of PDPK1 to promote the viability and glycolysis of prostate cancer cells., [RefSeq, PubMed]; Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion (PubMed:11350182, PubMed:14517221, PubMed:16651524, PubMed:9691089). Also possesses a lysine succinyltransferase activity that can regulate enzymatic activity of substrate proteins such as ENO1 and metabolism independent of its classical carnitine O-palmitoyltransferase activity (PubMed:29425493). Plays an important role in hepatic triglyceride metabolism (By similarity). Also plays a role in inducible regulatory T-cell (iTreg) differentiation once activated by butyryl-CoA that antagonizes malonyl-CoA-mediated CPT1A repression (By similarity). Sustains the IFN-I response by recruiting ZDHCC4 to palmitoylate MAVS at the mitochondria leading to MAVS stabilization and activation (PubMed:38016475). Promotes ROS-induced oxidative stress in liver injury via modulation of NFE2L2 and NLRP3-mediated signaling pathways (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CircHIPK3/miR-124 affects angiogenesis in early-onset preeclampsia via CPT1A-mediated fatty acid oxidation., [RefSeq, PubMed]; Oral Microbiome and CPT1A Function in Fatty Acid Metabolism in Oral Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8TCU0;Q9BWK0", "ec_number_list": [ { "id": "2.3.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.21", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" } ], "go_molecular_function": "GO:0004095 carnitine O-palmitoyltransferase activity;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0003824 catalytic activity;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane", "go_biological_process": "GO:0043279 response to alkaloid;GO:0001676 long-chain fatty acid metabolic process;GO:0006631 fatty acid metabolic process;GO:0006635 fatty acid beta-oxidation;GO:0006641 triglyceride metabolic process", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "P50416-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21964-1", "uniprot_id": [ { "id": "COMT_HUMAN", "url": "https://www.uniprot.org/uniprot/P21964", "type": "external" } ], "mass": 30037.0, "length": 271, "protein_name": "Catechol O-methyltransferase", "gene_name": "COMT", "organism": "Human", "refseq_name": "catechol O-methyltransferase isoform MB-COMT", "refseq_ac": [ { "id": "NP_000745", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000745", "type": "external" } ], "gene_names_uniprotkb": "COMT", "gene_names_refseq": "COMT; HEL-S-98n", "protein_names_uniprotkb": "Catechol O-methyltransferase; 2.1.1.6", "protein_names_refseq": "catechol O-methyltransferase isoform MB-COMT; epididymis secretory sperm binding protein Li 98n; testicular tissue protein Li 42", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); Parkinsonism (Disease Ontology:DOID:0080855); prostate cancer (Disease Ontology:DOID:10283); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); obsessive-compulsive disorder (Disease Ontology:DOID:10933); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); urinary bladder cancer (Disease Ontology:DOID:11054); polycystic ovary syndrome (Disease Ontology:DOID:11612); bulimia nervosa (Disease Ontology:DOID:12129); vitiligo (Disease Ontology:DOID:12306); pathological gambling (Disease Ontology:DOID:12399); intermittent explosive disorder (Disease Ontology:DOID:12401); leiomyoma (Disease Ontology:DOID:127); eumycotic mycetoma (Disease Ontology:DOID:13078); lung cancer (Disease Ontology:DOID:1324); endometrial cancer (Disease Ontology:DOID:1380); cholesterol ester storage disease (Disease Ontology:DOID:14502); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); cannabis dependence (Disease Ontology:DOID:1849); ovarian cancer (Disease Ontology:DOID:2394); opiate dependence (Disease Ontology:DOID:2559); morphine dependence (Disease Ontology:DOID:2560); bipolar disorder (Disease Ontology:DOID:3312); renal cell carcinoma (Disease Ontology:DOID:4450); uremia (Disease Ontology:DOID:4676); schizophrenia (Disease Ontology:DOID:5419); fibromyalgia (Disease Ontology:DOID:631); amphetamine abuse (Disease Ontology:DOID:670); psoriasis (Disease Ontology:DOID:8893); cannabis abuse (Disease Ontology:DOID:9505); neonatal abstinence syndrome (Disease Ontology:DOID:9828); obesity (Disease Ontology:DOID:9970); drug dependence (Disease Ontology:DOID:9974); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1312); (R-HSA-156581); (R-HSA-379397); (R-HSA-379398); (R-HSA-9679191)", "pathway_count": 5, "publication_count": 152, "publication_id_list": "10087012;10331075;10391209;10395222;10514445;10644686;10978155;11237011;11434504;11511179;11559542;12163696;12590576;13416264;13981612;14504192;14575568;14656940;15386537;15645182;15788214;16115318;16126332;16191465;16267626;16407288;16522641;16569655;1707278;17217814;17385677;17562079;1765063;17662961;17760745;18424824;18442637;18474266;1847521;18477386;18486144;18539146;18794526;18953341;1993083;20068231;20130981;20223014;20223979;20976142;20979431;21193388;21221767;21846718;21974969;22124994;22297695;22401777;22552008;22814904;23039364;23096092;23116175;23257985;23301498;23370603;23641311;23783831;23869875;24146281;24272870;24390993;24584101;24715725;24734162;24847974;25013436;25124595;25576301;25801024;25880248;26002965;26154972;26491354;26992070;27055785;27397612;27452731;27570878;27846572;27939670;28218747;28228285;28425720;28832583;28834231;28904123;29242379;29485866;29557506;29786170;29945920;30201761;30315122;30429286;31020640;31048504;31611695;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33936100;33968037;34087483;34171305;34185709;34357683;34509645;34932366;35051231;35251023;35580925;36010968;36284347;37938771;38665916;38861573;38862067;38863909;39358340;4398930;6408492;7703232;8020475;8055944;8515683;8807664;8968737;9175157;9586999", "class_list": "", "function": "Age and Sex-related Chromogranin A Gene Polymorphisms and its Association with Metabolic Syndrome Components., [RefSeq, PubMed]; Association of catechol-o-methyltransferase gene polymorphism with preeclampsia and biomarkers of oxidative stress: Study protocol for a prospective case-control study in Pakistan. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]., [RefSeq]; Neural indices of heritable impulsivity: Impact of the COMT Val158Met polymorphism on frontal beta power during early motor preparation., [RefSeq, PubMed]; The relationship between COMT, proline, and negative symptoms in clinical high risk and recent psychosis onset. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 41, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MPV9;Q6IB07;Q6ICE6;Q9BWC7", "ec_number_list": [ { "id": "2.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.6", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0008168 methyltransferase activity;GO:0008171 O-methyltransferase activity;GO:0016206 catechol O-methyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0032502 developmental process;GO:0042417 dopamine metabolic process;GO:0042420 dopamine catabolic process;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "P21964-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100100000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P80303-1", "uniprot_id": [ { "id": "NUCB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P80303", "type": "external" } ], "mass": 50223.0, "length": 420, "protein_name": "Nucleobindin-2", "gene_name": "NUCB2", "organism": "Human", "refseq_name": "nucleobindin-2 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_005004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005004", "type": "external" } ], "gene_names_uniprotkb": "NUCB2; NEFA", "gene_names_refseq": "HEL-S-109; NEFA; NUCB2", "protein_names_uniprotkb": "Nucleobindin-2; DNA-binding protein NEFA; Epididymis secretory protein Li 109; Gastric cancer antigen Zg4; Prepronesfatin", "protein_names_refseq": "DNA-binding protein NEFA; epididymis secretory protein Li 109; gastric cancer antigen Zg4; nesfatin 1; novel DNA binding/EF-hand/leucine zipper protein; nucleobindin-2 isoform 1 preproprotein; nucleobinding 2; prepronesfatin", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:4925)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;11749975;12087473;19690332;20068231;20427483;23399548;23584533;25418920;25502872;25813380;26768311;26992070;28467828;28832583;28834231;29242379;29314611;29317506;29393594;29557506;30194280;30429286;30459171;30779550;31020640;31154438;31217245;31611695;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33392160;33465208;33592498;33717175;33936100;33968037;33981976;34019948;34357683;34433824;34509645;35051231;35154160;35251023;35494241;35513511;35561310;35580925;35705054;36010968;36215666;37385089;37714885;37830634;38636892;38665916;38760405;39562740;40307207;7811391;9639681", "class_list": "", "function": "Anorexigenic peptide, seems to play an important role in hypothalamic pathways regulating food intake and energy homeostasis, acting in a leptin-independent manner. May also exert hypertensive roles and modulate blood pressure through directly acting on peripheral arterial resistance. In intestinal epithelial cells, plays a role in the inhibition of hepatic glucose production via MC4R receptor leading to increased cyclic adenosine monophosphate (cAMP) levels and glucagon-like peptide 1 (GLP-1) secretion (PubMed:39562740)., [UniProtKB, UniProtKB, PubMed]; Calcium-binding protein which may have a role in calcium homeostasis (By similarity). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein (G protein) alpha subunit GNAI3 (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; High plasma nesfatin-1 level in Chinese adolescents with depression. Publication Status: Online-Only, [RefSeq, PubMed]; NUCB2 inhibition antagonizes osteosarcoma progression and promotes anti-tumor immunity through inactivating NUCKS1/CXCL8 axis., [RefSeq, PubMed]; NUCB2/nesfatin-1 in the acute stress response of obese women with high and low anxiety., [RefSeq, PubMed]; Nucleobindin 2 inhibits senescence in gastric carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Role of Nucleobindin-2 in the Clinical Pathogenesis and Treatment Resistance of Glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 23, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 24, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 24, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "A8K642;D3DQX5;Q8NFT5;V9HW75", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005509 calcium ion binding;GO:0001965 G-protein alpha-subunit binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "P80303-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHV5-1", "uniprot_id": [ { "id": "MOSMO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHV5", "type": "external" } ], "mass": 18250.0, "length": 167, "protein_name": "Modulator of smoothened protein", "gene_name": "MOSMO", "organism": "Human", "refseq_name": "modulator of smoothened protein precursor", "refseq_ac": [ { "id": "NP_001158051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158051", "type": "external" } ], "gene_names_uniprotkb": "MOSMO; ATTHOG; C16orf52", "gene_names_refseq": "ATTHOG; BC030336; C16orf52; MOSMO", "protein_names_uniprotkb": "Modulator of smoothened protein; Attenuator of hedgehog", "protein_names_refseq": "Attenuator of Hedgehog; modulator of smoothened protein precursor; modulator of smoothened protein; uncharacterized protein C16orf52", "tax_id": 9606, "disease": "chromosome 16p12.1 deletion syndrome (Disease Ontology:DOID:0060399)", "pathway": " (hsa:730094)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;28228285;30833945;31844290;34171305;36241641", "class_list": "", "function": "Acts as a negative regulator of hedgehog signaling probably by promoting internalization and subsequent degradation of smoothened protein (SMO) present in the ciliary membrane. Plays a role in sonic hedgehog (SHH)-induced spinal neural progenitor cells differentiation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "H3BNM6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0060170 ciliary membrane", "go_biological_process": "GO:0030154 cell differentiation;GO:0045664 regulation of neuron differentiation;GO:0031647 regulation of protein stability;GO:0045879 negative regulation of smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NHV5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6X5-1", "uniprot_id": [ { "id": "CS044_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6X5", "type": "external" } ], "mass": 71343.0, "length": 657, "protein_name": "Uncharacterized protein C19orf44", "gene_name": "C19orf44", "organism": "Human", "refseq_name": "uncharacterized protein C19orf44 isoform 1", "refseq_ac": [ { "id": "NP_115583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115583", "type": "external" } ], "gene_names_uniprotkb": "C19orf44", "gene_names_refseq": "C19orf44; FCAP71", "protein_names_uniprotkb": "Uncharacterized protein C19orf44", "protein_names_refseq": "uncharacterized protein C19orf44 isoform 1; uncharacterized protein C19orf44", "tax_id": 9606, "disease": "", "pathway": " (hsa:84167)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;23186163;28832583;28834231;29242379;29632711;30779550;31154438;31844290;32161166;32488085;33592498;33912179;33968037;33981976;34171305;35051231;35494241;36010968;36241641;37938771;39894887", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8N6Y7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9H6X5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0V3-1", "uniprot_id": [ { "id": "SH3B4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0V3", "type": "external" } ], "mass": 107496.0, "length": 963, "protein_name": "SH3 domain-binding protein 4", "gene_name": "SH3BP4", "organism": "Human", "refseq_name": "SH3 domain-binding protein 4", "refseq_ac": [ { "id": "NP_055336", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055336", "type": "external" } ], "gene_names_uniprotkb": "SH3BP4; BOG25; EHB10; TTP", "gene_names_refseq": "BOG25; SH3BP4; TTP", "protein_names_uniprotkb": "SH3 domain-binding protein 4; EH-binding protein 10; Transferrin receptor-trafficking protein", "protein_names_refseq": "EH-binding protein 10; SH3 domain-binding protein 4; transferrin receptor-trafficking protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23677); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "10644451;11237011;15616480;15854902;15878852;16098514;16325581;16964243;17081983;17470430;18497260;18578522;18604198;18669648;18691976;19122209;19651622;19664995;20058876;20068231;20381137;22053050;22575674;22980980;23186163;23723238;24081491;24095279;24275569;25259925;25263562;25457612;25561175;25567906;25576301;25645385;25819761;26449471;26586190;26972053;27308486;27487210;27600516;27648300;27862975;28066558;28199306;28199315;29053970;29056322;29123071;29236692;29242379;29393594;29557506;29786170;30061680;30181260;30429286;30484775;30651352;30833945;31154438;31844290;31848261;32157095;32488085;32897882;32938616;32983136;33592498;33968037;33981976;34087483;35051231;35318648;35580925;36010968;36241641;38665916;7499430;9303539", "class_list": "", "function": "May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin-mediated endocytosis. Alternatively, may act as a negative regulator of the amino acid-induced TOR signaling by inhibiting the formation of active Rag GTPase complexes. Preferentially binds inactive Rag GTPase complexes and prevents their interaction with the mTORC1 complex inhibiting its relocalization to lysosomes and its activation. Thereby, may indirectly regulate cell growth, proliferation and autophagy., [UniProtKB, PubMed, PubMed]; This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "O95082;Q309A3;Q53QD0;Q53TD1", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031267 small GTPase binding;GO:0005092 GDP-dissociation inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005905 clathrin-coated pit;GO:0070062 extracellular exosome;GO:0030136 clathrin-coated vesicle", "go_biological_process": "GO:0006897 endocytosis;GO:0007015 actin filament organization;GO:0008285 negative regulation of cell population proliferation;GO:0007266 Rho protein signal transduction;GO:0050790 regulation of catalytic activity", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9P0V3-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19838-1", "uniprot_id": [ { "id": "NFKB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P19838", "type": "external" } ], "mass": 105356.0, "length": 968, "protein_name": "Nuclear factor NF-kappa-B p105 subunit", "gene_name": "NFKB1", "organism": "Human", "refseq_name": "nuclear factor NF-kappa-B p105 subunit isoform 2 proprotein", "refseq_ac": [ { "id": "NP_001158884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158884", "type": "external" } ], "gene_names_uniprotkb": "NFKB1", "gene_names_refseq": "CVID12; EBP-1; KBF1; NF-kB1; NF-kB; NF-kappa-B1; NF-kappaB; NF-kappabeta; NFKB-p105; NFKB-p50; NFKB1; NFkappaB", "protein_names_uniprotkb": "Nuclear factor NF-kappa-B p105 subunit; DNA-binding factor KBF1; EBP-1; Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1", "protein_names_refseq": "DNA-binding factor KBF1; nuclear factor NF-kappa-B p105 subunit isoform 2 proprotein; nuclear factor NF-kappa-B p105 subunit; nuclear factor NF-kappa-B p50 subunit; nuclear factor kappa-B DNA binding subunit; nuclear factor of kappa light polypeptide gene enhancer in B-cells 1", "tax_id": 9606, "disease": "opportunistic bacterial infectious disease (Disease Ontology:DOID:0050340); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); common variable immunodeficiency 12 (Disease Ontology:DOID:0081154); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); alcoholic hepatitis (Disease Ontology:DOID:12351); neurodegenerative disease (Disease Ontology:DOID:1289); lung cancer (Disease Ontology:DOID:1324); breast cancer (Disease Ontology:DOID:1612); melanoma (Disease Ontology:DOID:1909); transient cerebral ischemia (Disease Ontology:DOID:224); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); lung non-small cell carcinoma (Disease Ontology:DOID:3908); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); hepatocellular carcinoma (Disease Ontology:DOID:684); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:4790); (R-HSA-1169091); (R-HSA-1810476); (R-HSA-193692); (R-HSA-202424); (R-HSA-209560); (R-HSA-2559582); (R-HSA-2871837); (R-HSA-3134963); (R-HSA-3214841); (R-HSA-381340); (R-HSA-445989); (R-HSA-448706); (R-HSA-5603029); (R-HSA-5607764); (R-HSA-5621575); (R-HSA-5660668); (R-HSA-5684264); (R-HSA-6798695); (R-HSA-844456); (R-HSA-8853884); (R-HSA-9020702); (R-HSA-933542); (R-HSA-9609690); (R-HSA-9660826); (R-HSA-9692916); (R-HSA-9818749); (R-HSA-9860927); (R-HSA-9909649); (R-HSA-9958825)", "pathway_count": 30, "publication_count": 531, "publication_id_list": 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"class_list": "", "function": "Assessing the association between common functional Nuclear Factor Kappa-b gene polymorphisms (NFKB1, NFKBIZ, NFKBIA) and Alzheimer s disease., [RefSeq, PubMed]; Association of nuclear factor-kappa B1 (NF-kappaB1) Ins/Del gene polymorphism with Hepatitis C virus outcomes., [RefSeq, PubMed]; Constitutes the active form, which associates with RELA/p65 to form the NF-kappa-B p65-p50 complex to form a transcription factor (PubMed:1740106, PubMed:7830764). Together with RELA/p65, binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions (PubMed:1740106, PubMed:7830764)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric p65-p50 and RelB-p50 complexes are transcriptional activators. The NF-kappa-B p50-p50 homodimer is a transcriptional repressor, but can act as a transcriptional activator when associated with BCL3. NFKB1 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p105 and generation of p50 by a cotranslational processing. The proteasome-mediated process ensures the production of both p50 and p105 and preserves their independent function, although processing of NFKB1/p105 also appears to occur post-translationally. p50 binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. In a complex with MAP3K8, NFKB1/p105 represses MAP3K8-induced MAPK signaling; active MAP3K8 is released by proteasome-dependent degradation of NFKB1/p105., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; P105 is the precursor of the active p50 subunit (Nuclear factor NF-kappa-B p50 subunit) of the nuclear factor NF-kappa-B (PubMed:1423592). Acts as a cytoplasmic retention of attached NF-kappa-B proteins by p105 (PubMed:1423592)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. NFKB is a critical regulator of the immediate-early response to viral infection. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 33, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K5Y5;B3KVE8;Q68D84;Q86V43;Q8N4X7;Q9NZC0", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0033256 I-kappaB/NF-kappaB complex;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:1904385 cellular response to angiotensin;GO:0010957 negative regulation of vitamin D biosynthetic process;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 53.8, "record_id": "P19838-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5B0-1", "uniprot_id": [ { "id": "CTDP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5B0", "type": "external" } ], "mass": 104399.0, "length": 961, "protein_name": "RNA polymerase II subunit A C-terminal domain phosphatase", "gene_name": "CTDP1", "organism": "Human", "refseq_name": "RNA polymerase II subunit A C-terminal domain phosphatase isoform 3", "refseq_ac": [ { "id": "NP_001189433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189433", "type": "external" } ], "gene_names_uniprotkb": "CTDP1; FCP1", "gene_names_refseq": "CCFDN; CTDP1; FCP1", "protein_names_uniprotkb": "RNA polymerase II subunit A C-terminal domain phosphatase; 3.1.3.16; TFIIF-associating CTD phosphatase", "protein_names_refseq": "CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1; CTD of POLR2A, phosphatase of, subunit 1; RNA polymerase II subunit A C-terminal domain phosphatase isoform 3; RNA polymerase II subunit A C-terminal domain phosphatase; TFIIF-associating CTD phosphatase 1; serine phosphatase FCP1a; transcription factor IIF-associating CTD phosphatase 1", "tax_id": 9606, "disease": "arthus reaction (Disease Ontology:DOID:1556); obesity (Disease Ontology:DOID:9970); congenital cataracts-facial dysmorphism-neuropathy syndrome (MONDO:MONDO:0011402)", "pathway": " (hsa:9150); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167200); (R-HSA-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-674695); (R-HSA-6796648); (R-HSA-75955)", "pathway_count": 15, "publication_count": 126, "publication_id_list": "10.1101/2023.09.13.557529;10199401;10385623;10757782;10866664;10916156;10984493;11237011;11313498;11313499;11350971;11425311;11859374;11884399;11971958;11988847;12370301;12560496;12591939;12591941;12653964;12676794;14517542;14701750;15489290;15781865;17081983;17234882;17322306;18452278;18669648;18767875;1939271;19608861;19651622;19664994;19664995;19952111;20068231;20159561;21406692;22012619;22424782;22692537;22988298;23186163;23481700;23538671;24354960;2449431;24554720;24662513;24715725;25429106;25505266;25548167;25561469;25576301;25645385;25712099;25880248;26154972;26590573;26659056;26992070;27600516;27777341;27846572;28218747;28228285;2825027;28510447;28514659;28832583;28904123;29242379;29493099;29786170;29789417;30192525;30315122;30410026;30429286;30524438;30779550;31092671;31154438;31217245;31240132;31373491;31530632;31844290;31848261;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34171305;34509645;35051231;35494241;35561310;35580925;36010968;37938771;40914422;7660122;7660129;7660130;7853496;8370526;8486697;9063748;9450929;9489704;9765293;9857195", "class_list": "", "function": "Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for M-phase-promoting factor (MPF)/CDK1 inactivation., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Results demonstrated that CTDP1 was upregulated in human lung cancer tissues. In addition, it implied that CTDP1 played an important role in cell proliferation and may be a useful therapeutic target in human lung cancer., [RefSeq, PubMed]; Study identifies CTDP1 as an autoantigen specific for Behcet Disease., [RefSeq, PubMed]; This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]; This promotes the activity of RNA polymerase II., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8MY97;Q7Z644;Q96BZ1;Q9Y6F5", "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "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:0030957 Tat protein binding;GO:0004721 phosphoprotein phosphatase activity;GO:0001096 TFIIF-class transcription factor complex binding;GO:0008420 RNA polymerase II CTD heptapeptide repeat phosphatase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005819 spindle", "go_biological_process": "GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development;GO:0051301 cell division;GO:0006470 protein dephosphorylation;GO:0010458 exit from mitosis;GO:0006368 transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q9Y5B0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28472-1", "uniprot_id": [ { "id": "GBRB3_HUMAN", "url": "https://www.uniprot.org/uniprot/P28472", "type": "external" } ], "mass": 54116.0, "length": 473, "protein_name": "Gamma-aminobutyric acid receptor subunit beta-3", "gene_name": "GABRB3", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000805", "type": "external" } ], "gene_names_uniprotkb": "GABRB3", "gene_names_refseq": "DEE43; ECA5; EIEE43; GABRB3", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit beta-3; GABA(A) receptor subunit beta-3; GABAAR subunit beta-3", "protein_names_refseq": "GABA-alpha receptor beta-2 subunit; GABAA receptor beta-3 subunit; GABAAR subunit beta-3; gamma-aminobutyric acid (GABA) A receptor, beta 3; gamma-aminobutyric acid A receptor beta 3; gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor; gamma-aminobutyric acid type A receptor beta3 subunit; gamma-aminobutyric acid type A receptor subunit beta 3", "tax_id": 9606, "disease": "Lennox-Gastaut syndrome (Disease Ontology:DOID:0050561); fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); developmental disorder of mental health (Disease Ontology:DOID:0060037); autism spectrum disorder (Disease Ontology:DOID:0060041); developmental and epileptic encephalopathy 43 (Disease Ontology:DOID:0080447); alcohol use disorder (Disease Ontology:DOID:1574); status epilepticus (Disease Ontology:DOID:1824); childhood absence epilepsy (Disease Ontology:DOID:1825); epilepsy (Disease Ontology:DOID:1826); heroin dependence (Disease Ontology:DOID:9976); epilepsy, childhood absence, susceptibility to, 5 (MONDO:MONDO:0012843)", "pathway": " (hsa:2562); (R-HSA-1236394); (R-HSA-977443)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10.1101/2023.09.13.557529;10449790;10542332;10867024;11237011;12189488;1315307;1321750;14993607;15024690;1664410;1714232;17364682;17398006;17545517;18281286;18382465;1849271;18514161;18721752;19828786;22243422;22303015;23934111;2465923;24909990;25356899;25489750;25645385;26950270;26993267;27476654;27864847;2847710;28544625;28904123;29557506;30140029;30602789;31154438;32938616;33592498;34087483;34171305;35051231;35355020;37647766;38287309;38623967;7565730;7929212;8264558;8382267;8382702;8391122;8617750;8632757;8719414;8719416;9135143;9168115;9275162;9556621", "class_list": "", "function": "Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:18514161, PubMed:22243422, PubMed:22303015, PubMed:24909990, PubMed:26950270, PubMed:30602789). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (PubMed:24909990, PubMed:30140029, PubMed:30602789). GABAARs containing beta-3/GABRB3 subunit are found at both synaptic and extrasynaptic sites (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:14993607, PubMed:22303015, PubMed:26950270, PubMed:30602789). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (PubMed:22303015, PubMed:26950270). GABAARs containing alpha-1 and beta-3 subunits exhibit synaptogenic activity; the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation (PubMed:25489750). Extrasynaptic beta-3 receptors contribute to the tonic GABAergic inhibition (By similarity). GABAARs containing alpha-1, beta-3 and epsilon subunits may also permit spontaneous chloride channel activity while preserving the structural information required for GABA-gated openings (By similarity). Beta-containing GABAARs can simultaneously bind GABA and histamine where histamine binds at the interface of two neighboring beta subunits, which may be involved in the regulation of sleep and wakefulness (PubMed:18281286, PubMed:24909990, PubMed:35355020). Plays an important role in somatosensation and in the production of antinociception (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity., [RefSeq, PubMed]; Integrated analysis identifies GABRB3 as a biomarker in prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Role of beta3 subunit of the GABA type A receptor in triple negative breast cancer proliferation, migration, and cell cycle progression., [RefSeq, PubMed]; This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "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": 6, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 12, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7Z2W1;B7Z825;F5H3D2;H7BYV8;Q14352;Q96FM5", "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:0042802 identical protein binding;GO:0004890 GABA-A receptor activity;GO:0022851 GABA-gated chloride ion channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0005230 extracellular ligand-gated monoatomic ion channel activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043197 dendritic spine;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0060384 innervation;GO:0007165 signal transduction;GO:0007214 gamma-aminobutyric acid signaling pathway;GO:0032229 negative regulation of synaptic transmission, GABAergic;GO:0060080 inhibitory postsynaptic potential", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P28472-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2M7-1", "uniprot_id": [ { "id": "CING_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2M7", "type": "external" } ], "mass": 137057.0, "length": 1203, "protein_name": "Cingulin", "gene_name": "CGN", "organism": "Human", "refseq_name": "cingulin", "refseq_ac": [ { "id": "NP_065821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065821", "type": "external" } ], "gene_names_uniprotkb": "CGN; KIAA1319", "gene_names_refseq": "CGN", "protein_names_uniprotkb": "Cingulin", "protein_names_refseq": "cingulin", "tax_id": 9606, "disease": "", "pathway": " (hsa:57530); (R-HSA-2173791)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10877843;11042084;11237011;11447115;12023291;12665801;12953056;14657501;15761148;16083285;18077418;18220336;18669648;19413330;19608861;19664995;19690332;20068231;20166139;21258369;21406692;23186163;24275569;25683918;28228285;28832583;29242379;29393594;29789417;31473225;36284347;37691516;38338691;39990658;9233797", "class_list": "", "function": "Cingulin (KIAA1319 protein) is localized in the cytoplasmic domain of vertebrate epithelial tight junctions, and it interacts with other tight junction proteins such as ZO-1, and with the actomyosin cytoskeleton., [RefSeq, PubMed]; Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse., [RefSeq, PubMed]; Probably plays a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier., [UniProtKB]; The Roles and Regulatory Mechanisms of Tight Junction Protein Cingulin and Transcription Factor Forkhead Box Protein O1 in Human Lung Adenocarcinoma A549 Cells and Normal Lung Epithelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 26, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A6H8L3;A7MD22;Q5T386;Q9NR25", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008017 microtubule binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0030054 cell junction;GO:0016459 myosin complex", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9P2M7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13469-1", "uniprot_id": [ { "id": "NFAC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13469", "type": "external" } ], "mass": 100146.0, "length": 925, "protein_name": "Nuclear factor of activated T-cells, cytoplasmic 2", "gene_name": "NFATC2", "organism": "Human", "refseq_name": "nuclear factor of activated T-cells, cytoplasmic 2 isoform D", "refseq_ac": [ { "id": "NP_001129493", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129493", "type": "external" } ], "gene_names_uniprotkb": "NFATC2; NFAT1; NFATP", "gene_names_refseq": "JCOSL; NFAT1; NFATC2; NFATP", "protein_names_uniprotkb": "Nuclear factor of activated T-cells, cytoplasmic 2; NF-ATc2; NF-ATp; NFAT pre-existing subunit; NFATc2; T-cell transcription factor NFAT1", "protein_names_refseq": "NF-ATc2; NFAT pre-existing subunit; NFAT transcription complex, preexisting component; T cell transcription factor NFAT1; nuclear factor of activated T-cells, cytoplasmic 2 isoform D; nuclear factor of activated T-cells, cytoplasmic 2; nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2; nuclear factor of activated T-cells, preexisting component; preexisting nuclear factor of activated T-cells 2", "tax_id": 9606, "disease": "pulmonary hypertension (Disease Ontology:DOID:6432); joint contractures, osteochondromas, and B-cell lymphoma (MONDO:MONDO:0859369)", "pathway": " (hsa:4773); (R-HSA-2025928); (R-HSA-2871809); (R-HSA-5607763); (R-HSA-8877330); (R-HSA-9976102)", "pathway_count": 6, "publication_count": 103, "publication_id_list": "10089876;10533284;10860980;11015619;11030334;11231878;11395409;12021260;12220513;12573241;12975316;15144186;15790681;16873067;1715244;17287340;17377532;17398070;17467953;17502104;18218901;18296442;18675896;19651622;19690332;19800266;20068231;21458306;21871017;23105117;23186163;24275569;24366607;2445721;24715725;25645385;26154972;26248042;26766444;26992070;27846572;27863227;27920218;28063628;28218747;28514659;28832583;29242379;29351928;29357353;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30294901;30315122;30410026;30429286;31092671;31154438;31844290;31848261;32157095;32161166;32265295;32387766;32502341;32897882;33123756;33298915;33691108;33912179;33936100;33981976;34509645;34561969;35051231;35132862;35289036;35580925;35789258;37933452;37938771;38035702;38254207;38448411;38528665;40914422;7518558;7657645;8576111;8629002;8630736;8631904;8668213;8684469;8799126;9106655;9312192;9727000", "class_list": "", "function": "Effect of NFATc2- and Sp1-mediated TNFalpha Regulation on the Proliferation and Migration Behavior of Pancreatic Cancer Cells., [RefSeq, PubMed]; Genetic deficiency of the transcription factor NFAT1 confers protection against fibrogenic responses independent of immune influx., [RefSeq, PubMed]; Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF or GM-CSF (PubMed:15790681). Promotes invasive migration through the activation of GPC6 expression and WNT5A signaling pathway (PubMed:21871017). Is involved in the negative regulation of chondrogenesis (PubMed:35789258). Recruited by AKAP5 to ORAI1 pore-forming subunit of CRAC channels in Ca(2+) signaling microdomains where store-operated Ca(2+) influx is coupled to calmodulin and calcineurin signaling and activation of NFAT-dependent transcriptional responses., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Report and literature review of four cases of EWSR1::NFATC2 round cell sarcoma. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The Dual Role of the NFATc2/galectin-9 Axis in Modulating Tumor-Initiating Cell Phenotypes and Immune Suppression in Lung Adenocarcinoma., [RefSeq, PubMed]; The RNA m[6]A reader IGF2BP3 regulates NFAT1/IRF1 axis-mediated anti-tumor activity in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [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": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 45, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B5B2N8;B5B2N9;B5B2P0;B5B2P2;B5B2P3;Q13468;Q5TFW7;Q5TFW8;Q9NPX6;Q9NQH3;Q9UJR2", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005667 transcription regulator complex", "go_biological_process": "GO:1905064 negative regulation of vascular associated smooth muscle cell differentiation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q13469-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9Q2-1", "uniprot_id": [ { "id": "SR1IP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9Q2", "type": "external" } ], "mass": 18177.0, "length": 155, "protein_name": "Protein SREK1IP1", "gene_name": "SREK1IP1", "organism": "Human", "refseq_name": "protein SREK1IP1", "refseq_ac": [ { "id": "NP_776190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776190", "type": "external" } ], "gene_names_uniprotkb": "SREK1IP1; P18SRP; SFRS12IP1", "gene_names_refseq": "P18SRP; SFRS12IP1; SREK1IP1", "protein_names_uniprotkb": "Protein SREK1IP1; SFRS12-interacting protein 1; SREK1-interacting protein 1; Splicing regulatory protein of 18 kDa; p18SRP", "protein_names_refseq": "SFRS12-interacting protein 1; p18 splicing regulatory protein; protein SFRS12IP1; protein SREK1IP1; splicing regulatory protein of 18 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:285672)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "15456940;17081983;18669648;19651622;20068231;23186163;30379171;31530632;37217939;39894887", "class_list": "", "function": "P18SRP is a lysine-rich zinc finger domain-containing protein that interacts with the serine-arginine-rich splicing regulatory protein SRrp86; it is downregulated in brain of Alzheimer disease patients., [RefSeq, PubMed]; Possible splicing regulator involved in the control of cellular survival., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q32NC8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8N9Q2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43310-1", "uniprot_id": [ { "id": "CTIF_HUMAN", "url": "https://www.uniprot.org/uniprot/O43310", "type": "external" } ], "mass": 67587.0, "length": 598, "protein_name": "CBP80/20-dependent translation initiation factor", "gene_name": "CTIF", "organism": "Human", "refseq_name": "CBP80/20-dependent translation initiation factor isoform 2", "refseq_ac": [ { "id": "NP_001135869", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135869", "type": "external" } ], "gene_names_uniprotkb": "CTIF; KIAA0427", "gene_names_refseq": "CTIF; Gm672; KIAA0427", "protein_names_uniprotkb": "CBP80/20-dependent translation initiation factor", "protein_names_refseq": "CBP80/20-dependent translation initiation factor isoform 2; CBP80/20-dependent translation initiation factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:9811)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16959974;18088087;18669648;19413330;19648179;19664994;20166139;21840310;23186163;24275569;25418920;26929215;26992070;27600516;27862975;28218747;28832583;28904123;29393594;29437277;29557506;29786170;29789535;30429286;31154438;31844290;32157095;32387766;32897882;32938616;33103564;33592498;33968037;33981976;34171305;34232997;34509645;35051231;35494241;35580925;38665916", "class_list": "", "function": "A new MIF4G domain-containing protein, CTIF that interacts directly with CBP80 and is part of the CBP80/20-dependent translation initiation complex [CBP80/20-dependent translation initiation factor, CTIF], [RefSeq, PubMed]; CBP80/20-dependent translation initiation factor (CTIF) inhibits HIV-1 Gag synthesis by targeting the function of the viral protein Rev., [RefSeq, PubMed]; CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]., [RefSeq]; CTIF was identified as a novel PARylation target of the TNKS2 in the centrosomal region of cells, which plays a role in the distribution of the centrosomal satellites. Publication Status: Online-Only, [RefSeq, PubMed]; Specifically required for the pioneer round of mRNA translation mediated by the cap-binding complex (CBC), that takes place during or right after mRNA export via the nuclear pore complex (NPC). Acts via its interaction with the NCBP1/CBP80 component of the CBC complex and recruits the 40S small subunit of the ribosome via eIF3. In contrast, it is not involved in steady state translation, that takes place when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. Also required for nonsense-mediated mRNA decay (NMD), the pioneer round of mRNA translation mediated by the cap-binding complex playing a central role in nonsense-mediated mRNA decay (NMD)., [UniProtKB, PubMed]; Study reveals that Ago2, but not Ago2F2V2, inhibits the binding of CBP80/20 to cap structure., [RefSeq, PubMed]; Translation mediated by the nuclear cap-binding complex is confined to the perinuclear region via a CTIF-DDX19B interaction., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "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": "B3KTR8;Q8IVD5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008494 translation activator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0006446 regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O43310-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31146-1", "uniprot_id": [ { "id": "COR1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P31146", "type": "external" } ], "mass": 51026.0, "length": 461, "protein_name": "Coronin-1A", "gene_name": "CORO1A", "organism": "Human", "refseq_name": "coronin-1A", "refseq_ac": [ { "id": "NP_001180262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180262", "type": "external" } ], "gene_names_uniprotkb": "CORO1A; CORO1", "gene_names_refseq": "CLABP; CLIPINA; CORO1A; HCORO1; IMD8; TACO; p57", "protein_names_uniprotkb": "Coronin-1A; Clipin-A; Coronin-like protein A; Coronin-like protein p57; TACO; Tryptophan aspartate-containing coat protein", "protein_names_refseq": "clipin-A; coronin, actin binding protein, 1A; coronin-1A; coronin-1; coronin-like protein A; coronin-like protein p57; tryptophan aspartate-containing coat protein", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); coronin-1A deficiency (Disease Ontology:DOID:0060019); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); severe combined immunodeficiency 104 (Disease Ontology:DOID:0090014); alcoholic hepatitis (Disease Ontology:DOID:12351); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); breast cancer (Disease Ontology:DOID:1612); ovarian cancer (Disease Ontology:DOID:2394); high grade glioma (Disease Ontology:DOID:3070); osteosarcoma (Disease Ontology:DOID:3347); breast carcinoma (Disease Ontology:DOID:3459); lung non-small cell carcinoma (Disease Ontology:DOID:3908); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); skin melanoma (Disease Ontology:DOID:8923); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:11151); (R-HSA-9636383)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10338208;11237011;1286667;15280044;17652161;18474358;19097825;19608861;20098737;21850230;22016387;22967762;23100250;23481700;23522482;24714562;24715725;25469497;25502872;25642820;25802875;25892735;26024233;26154972;26375851;26768311;26823173;26992070;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28467828;28649982;28832583;28834231;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29789417;30315122;30410026;30429286;30524438;31217245;31611695;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32983136;33043033;33123756;33141586;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;34171305;34189278;34357683;34433824;34509645;34932366;35051231;35154160;35526384;35580925;35915349;36284347;37938771;40914422;7758584", "class_list": "", "function": "Carbamazepine-modified HLA-A*24:02-bound peptidome: Implication of CORO1A in skin rash., [RefSeq, PubMed]; May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. In mycobacteria-infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes., [UniProtKB, PubMed]; Serum exosomal coronin 1A and dynamin 2 as neural tube defect biomarkers., [RefSeq, PubMed]; This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [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": 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": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 18, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RBL1;Q2YD73", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0003785 actin monomer binding;GO:0042803 protein homodimerization activity;GO:0051015 actin filament binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0001891 phagocytic cup;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0007015 actin filament organization;GO:0016477 cell migration;GO:0032956 regulation of actin cytoskeleton organization;GO:0045087 innate immune response;GO:0006909 phagocytosis", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P31146-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY22-1", "uniprot_id": [ { "id": "CMIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY22", "type": "external" } ], "mass": 86331.0, "length": 773, "protein_name": "C-Maf-inducing protein", "gene_name": "CMIP", "organism": "Human", "refseq_name": "C-Maf-inducing protein isoform Tc-Mip", "refseq_ac": [ { "id": "NP_085132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085132", "type": "external" } ], "gene_names_uniprotkb": "CMIP; KIAA1694; TCMIP", "gene_names_refseq": "CMIP; TCMIP", "protein_names_uniprotkb": "C-Maf-inducing protein; Tc-Mip; Truncated c-Maf-inducing protein; c-Mip", "protein_names_refseq": "C-Maf-inducing protein isoform Tc-Mip; C-Maf-inducing protein; tc-Mip", "tax_id": 9606, "disease": "", "pathway": " (hsa:80790)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11237011;12939343;15128042;15565337;18220336;18669648;19019440;19646677;23186163;23481700;24275569;25418920;25502872;25576301;26154972;26992070;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29314611;29331515;29351928;29437277;29485866;29493099;29508533;29557506;29632046;29632711;29786170;30410026;31020640;31822364;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33091337;33112407;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34323419;34357683;34509645;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36609599", "class_list": "", "function": "C-mip inhibits the degradation of I-kappaBalpha and impedes the dissociation of the NF-kappaB/I-kappaBalpha complexes., [RefSeq, PubMed]; CMIP SNPs and their haplotypes are associated with dyslipidaemia and clinicopathologic features of IgA nephropathy., [RefSeq, PubMed]; CMIP interacts with WT1 and targets it on the proteasome degradation pathway., [RefSeq, PubMed]; CMIP modulates phonological short-term memory in language impairment., [RefSeq, PubMed]; CMIP promotes Herceptin resistance of HER2 positive gastric cancer cells., [RefSeq, PubMed]; Dnmt1/Tet2-mediated changes in Cmip methylation regulate the development of nonalcoholic fatty liver disease by controlling the Gbp2-Ppargamma-CD36 axis., [RefSeq, PubMed]; Filamin-A interacts with c-mip/Tc-mip in a new T-cell signaling pathway., [RefSeq, PubMed]; Plays a role in T-cell signaling pathway. Isoform 2 may play a role in T-helper 2 (Th2) signaling pathway and seems to represent the first proximal signaling protein that links T-cell receptor-mediated signal to the activation of c-Maf Th2 specific factor., [UniProtKB, PubMed, PubMed]; Results suggest that Tc-mip plays a critical role in Th2 signaling pathway and represents the first proximal signaling protein which links TCR-mediated signal to the activation of c-maf Th2 specific factor, [RefSeq, PubMed]; This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9C0G9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q8IY22-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0A0-1", "uniprot_id": [ { "id": "CNTP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0A0", "type": "external" } ], "mass": 145274.0, "length": 1308, "protein_name": "Contactin-associated protein-like 4", "gene_name": "CNTNAP4", "organism": "Human", "refseq_name": "contactin-associated protein-like 4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_207837", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_207837", "type": "external" } ], "gene_names_uniprotkb": "CNTNAP4; CASPR4; KIAA1763", "gene_names_refseq": "CASPR4; CNTNAP4", "protein_names_uniprotkb": "Contactin-associated protein-like 4; Cell recognition molecule Caspr4", "protein_names_refseq": "cell recognition molecule Caspr4; contactin associated protein like 4; contactin-associated protein-like 4 isoform 1 precursor", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal recessive intellectual developmental disorder (Disease Ontology:DOID:0060308)", "pathway": " (hsa:85445)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;18398821;18669648;19664995;19844255;20361982;23395182;23481700;24715725;26154972;28968899;29557506;30429286;32157095;32194851;33141586;33298915;33392160;33968037;34405274;35051231;38479556", "class_list": "", "function": "CNTNAP4 deficiency in dopaminergic neurons initiates parkinsonian phenotypes. Publication Status: Online-Only, [RefSeq, PubMed]; Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through directly regulating contactin-associated protein-like 4 (CNTNAP4) transcription: An experimental study., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Presynaptic protein involved in both dopaminergic synaptic transmission and GABAergic system, thereby participating in the structural maturation of inhibitory interneuron synapses. Involved in the dopaminergic synaptic transmission by attenuating dopamine release through a presynaptic mechanism. Also participates in the GABAergic system (By similarity)., [UniProtKB]; This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016]., [RefSeq]; We demonstrated that the expression of contactin-associated protein-like 4 (CNTNAP4) was decreased in the temporal neocortex of epileptic patients, [RefSeq, PubMed]", "predicted_glycosites": 12, "predicted_n_glycosites": 12, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 76, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "E9PFZ6;Q86YZ7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0042734 presynaptic membrane;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0032225 regulation of synaptic transmission, dopaminergic;GO:0032228 regulation of synaptic transmission, GABAergic", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9C0A0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H5F2-1", "uniprot_id": [ { "id": "CFA68_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H5F2", "type": "external" } ], "mass": 17785.0, "length": 150, "protein_name": "Cilia- and flagella-associated protein 68", "gene_name": "CFAP68", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 68 isoform 2", "refseq_ac": [ { "id": "NP_001317300", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317300", "type": "external" } ], "gene_names_uniprotkb": "CFAP68; C11orf1", "gene_names_refseq": "C11orf1; CFAP68", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 68", "protein_names_refseq": "UPF0686 protein C11orf1; cilia- and flagella-associated protein 68 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64776)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10873569;11237011;25892735;26992070;28218747;28832583;28904123;29242379;29437277;29769354;30315122;30410026;31154438;31217245;31844290;32157095;33717175;33912179;35580925;36191189;36284347;38538594", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6I9X7;Q9NQC6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9H5F2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q71U36-1", "uniprot_id": [ { "id": "TBA1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q71U36", "type": "external" } ], "mass": 50136.0, "length": 451, "protein_name": "Tubulin alpha-1A chain", "gene_name": "TUBA1A", "organism": "Human", "refseq_name": "tubulin alpha-1A chain isoform 1", "refseq_ac": [ { "id": "NP_001257328", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257328", "type": "external" } ], "gene_names_uniprotkb": "TUBA1A; TUBA3", "gene_names_refseq": "B-ALPHA-1; LIS3; TUBA1A; TUBA3", "protein_names_uniprotkb": "Tubulin alpha-1A chain; 3.6.5.-; Alpha-tubulin 3; Tubulin B-alpha-1; Tubulin alpha-3 chain", "protein_names_refseq": "hum-a-tub1; hum-a-tub2; tubulin B-alpha-1; tubulin alpha-1A chain isoform 1; tubulin alpha-3 chain; tubulin, alpha, brain-specific", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); polymicrogyria (Disease Ontology:DOID:0080918); lissencephaly 3 (Disease Ontology:DOID:0112232); microlissencephaly (Disease Ontology:DOID:0112234); microcephaly (Disease Ontology:DOID:10907); Down syndrome (Disease Ontology:DOID:14250); congenital nervous system abnormality (Disease Ontology:DOID:2490)", "pathway": " (hsa:7846); (R-HSA-1445148); (R-HSA-190840); (R-HSA-190861); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-2565942); (R-HSA-3371497); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-389957); (R-HSA-389960); (R-HSA-389977); (R-HSA-437239); (R-HSA-5610787); (R-HSA-5620912); (R-HSA-5620920); (R-HSA-5620924); (R-HSA-5626467); (R-HSA-5663220); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8852276); (R-HSA-8854518); (R-HSA-8955332); (R-HSA-9609690); (R-HSA-9609736); (R-HSA-9619483); (R-HSA-9646399); (R-HSA-9648025); (R-HSA-9668328); (R-HSA-983189); (R-HSA-9833482)", "pathway_count": 38, "publication_count": 889, 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"class_list": "", "function": "Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies., [RefSeq, PubMed]; Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]., [RefSeq]; TUBA1A licenses APC/C-mediated mitotic progression to drive glioblastoma growth by inhibiting PLK3., [RefSeq, PubMed]; TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics. Publication Status: Online-Only, [RefSeq, PubMed]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "A8K0B8;G3V1U9;P04687;P05209", "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": "6.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.-", "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": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "5.6.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.3", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "3.4.22.49", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.49", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "2.3.1.108", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.108", "type": "external" }, { "id": "3.4.17.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.-", "type": "external" }, { "id": "3.4.17.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.24", "type": "external" }, { "id": "3.4.17.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.17", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "6.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.25", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.124", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "6.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-", "type": "external" }, { "id": "5.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" } ], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0008017 microtubule binding;GO:0016787 hydrolase activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:0046785 microtubule polymerization;GO:0021696 cerebellar cortex morphogenesis;GO:0001964 startle response;GO:0000278 mitotic cell cycle;GO:0006886 intracellular protein transport", "synthesized_glycan_count": 0, "hit_score": 91.1, "record_id": "Q71U36-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PUV4-1", "uniprot_id": [ { "id": "CPLX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PUV4", "type": "external" } ], "mass": 15394.0, "length": 134, "protein_name": "Complexin-2", "gene_name": "CPLX2", "organism": "Human", "refseq_name": "complexin-2", "refseq_ac": [ { "id": "NP_001008221", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008221", "type": "external" } ], "gene_names_uniprotkb": "CPLX2", "gene_names_refseq": "921-L; CPLX2; CPX-2; CPX2; Hfb1", "protein_names_uniprotkb": "Complexin-2; CPX II; Complexin II; Synaphin-1", "protein_names_refseq": "CPX II; complexin II; complexin-2; synaphin 1", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:10814)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;11483314;11576753;15906159;16162394;16499873;19531498;25692331;27866231;29393594;29557506;30833945;34171305;36107387;38427133;7553862;9853440", "class_list": "", "function": "CPLX2 Regulates Ferroptosis and Apoptosis Through NRF2 Pathway in Human Hepatocellular Carcinoma Cells., [RefSeq, PubMed]; CPLX2 is a novel tumor suppressor and improves the prognosis in glioma., [RefSeq, PubMed]; Negatively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles. Also involved in mast cell exocytosis (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; These results suggested that CPLX2 participated in synaptic taste transduction., [RefSeq, PubMed]; This study demonstrated that complexin-II differentially influence cognitive function in early and late stages of Alzheimer's disease., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAG2;O09056;Q13329;Q28184;Q52M15;Q64386", "ec_number_list": [], "go_molecular_function": "GO:0048306 calcium-dependent protein binding;GO:0000149 SNARE binding;GO:0017075 syntaxin-1 binding;GO:0019905 syntaxin binding", "go_cellular_component": "GO:0070554 synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex;GO:0098978 glutamatergic synapse;GO:0044305 calyx of Held;GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0050804 modulation of chemical synaptic transmission;GO:0031915 positive regulation of synaptic plasticity;GO:0031630 regulation of synaptic vesicle fusion to presynaptic active zone membrane", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q6PUV4-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96D53-1", "uniprot_id": [ { "id": "COQ8B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96D53", "type": "external" } ], "mass": 60069.0, "length": 544, "protein_name": "Atypical kinase COQ8B, mitochondrial", "gene_name": "COQ8B", "organism": "Human", "refseq_name": "atypical kinase COQ8B, mitochondrial isoform b", "refseq_ac": [ { "id": "NP_001136027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136027", "type": "external" } ], "gene_names_uniprotkb": "COQ8B; ADCK4", "gene_names_refseq": "ADCK4; COQ8B; NPHS9", "protein_names_uniprotkb": "Atypical kinase COQ8B, mitochondrial; 2.7.-.-; AarF domain-containing protein kinase 4; Coenzyme Q protein 8B", "protein_names_refseq": "aarF domain containing kinase 4; aarF domain-containing protein kinase 4; atypical kinase COQ8B, mitochondrial isoform b; atypical kinase COQ8B, mitochondrial; coenzyme Q protein 8B", "tax_id": 9606, "disease": "coenzyme Q10 deficiency disease (Disease Ontology:DOID:0050730); primary coenzyme Q10 deficiency 4 (Disease Ontology:DOID:0070241); nephrotic syndrome type 9 (Disease Ontology:DOID:0080391); nephrotic syndrome (Disease Ontology:DOID:1184)", "pathway": " (hsa:79934); (R-HSA-2142789)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10501970;10777520;11237011;12721307;15153069;16262699;16624818;17344846;17374725;17916383;20877624;21540551;21944752;23354120;24270420;25152161;25216398;25339443;25967120;27155576;27499296;27846572;30315122;31844290;32707086;33141586;34172776;34471290;35051231;36010968;36302899;36306796;36658222;38425362;39226897;8621692;9083049", "class_list": "", "function": "Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:24270420, PubMed:36302899, PubMed:38425362). Its substrate specificity is still unclear: may act as a protein kinase that mediates phosphorylation of COQ3 (PubMed:38425362). According to other reports, acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates (By similarity). However, the small molecule kinase activity was not confirmed by another publication (PubMed:38425362). Required for podocyte migration (PubMed:24270420)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa., [RefSeq, PubMed]; Mutations in ADCK4 resulted in reduced CoQ10 levels and reduced mitochondrial respiratory enzyme activity in cells isolated from individuals with steroid-resistant nephrotic syndrome & transformed lymphoblasts., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]; Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8TAJ1;Q9HA52", "ec_number_list": [ { "id": "2.1.1.201", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.201", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" }, { "id": "1.14.99.60", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.60", "type": "external" }, { "id": "1.14.13.253", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.253", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.114", "type": "external" }, { "id": "2.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.64", "type": "external" }, { "id": "1.14.15.45", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.45", "type": "external" }, { "id": "1.14.15.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.46", "type": "external" }, { "id": "4.1.1.130", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.130", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0008289 lipid binding;GO:0016740 transferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006744 ubiquinone biosynthetic process;GO:0021692 cerebellar Purkinje cell layer morphogenesis", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q96D53-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43889-2", "uniprot_id": [ { "id": "CREB3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43889", "type": "external" } ], "mass": 41379.0, "length": 371, "protein_name": "Cyclic AMP-responsive element-binding protein 3", "gene_name": "CREB3", "organism": "Human", "refseq_name": "cyclic AMP-responsive element-binding protein 3", "refseq_ac": [ { "id": "NP_006359", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006359", "type": "external" } ], "gene_names_uniprotkb": "CREB3; LZIP", "gene_names_refseq": "CREB3; LUMAN; LZIP; sLZIP", "protein_names_uniprotkb": "Cyclic AMP-responsive element-binding protein 3; CREB-3; Leucine zipper protein; Luman; Transcription factor LZIP-alpha; cAMP-responsive element-binding protein 3", "protein_names_refseq": "basic leucine zipper protein; cyclic AMP response element (CRE)-binding protein/activating transcription factor 1; cyclic AMP-responsive element-binding protein 3; leucin zipper proitein; small leucine zipper protein; transcription factor LZIP-alpha", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); lung cancer (Disease Ontology:DOID:1324); alcohol use disorder (Disease Ontology:DOID:1574); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); congenital myasthenic syndrome (Disease Ontology:DOID:3635); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); lung large cell carcinoma (Disease Ontology:DOID:4556); lung small cell carcinoma (Disease Ontology:DOID:5409); cocaine abuse (Disease Ontology:DOID:809); nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:10488); (R-HSA-8874211)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10.1101/2023.09.13.557529;10623756;10629049;10675342;10984507;11353085;11830526;12138176;15001559;15705566;15845366;16236796;16469704;16940180;17054986;17117415;17296613;17712038;17875199;18391022;18587271;19779205;19883396;20546900;21767813;22705851;23256041;23481700;24126059;24190977;25625847;25892735;25955804;26375851;26728094;26810754;27058226;27920218;28832583;28834231;29242379;29508533;29557506;29632711;29786170;30379171;30429286;30833945;31154438;31217245;31530632;31844290;32157095;32161166;32387766;32488085;32938616;32983136;33298915;33592498;33803345;33968037;34171305;34509645;34932366;35051231;35318648;35580925;35746643;38151984;38480902;9271389;9389645", "class_list": "", "function": "(Microbial infection) Activates transcription of genes required for reactivation of the latent HSV-1 virus. Its transcriptional activity is inhibited by CREBZF in a HCFC1-dependent manner, by the viral transactivator protein VP16. Binds DNA to the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]-3') and C/EBP sequences present in many viral promoters., [UniProtKB, PubMed]; (Microbial infection) Its transcriptional activity is inhibited by CREBZF in a HCFC1-dependent manner, by the viral transactivator HCV core protein., [UniProtKB, PubMed]; (Microbial infection) May play a role as a cellular tumor suppressor that is targeted by the hepatitis C virus (HCV) core protein., [UniProtKB, PubMed]; (Microbial infection) Plays a role in herpes simplex virus-1 (HSV-1) latent infection and reactivation from latency. Represses the VP16-mediated transactivation of immediate early genes of the HSV-1 virus by sequestering host cell factor-1 HCFC1 in the ER membrane of sensory neurons, thereby preventing the initiation of the replicative cascade leading to latent infection., [UniProtKB, PubMed, PubMed]; (Microbial infection) Plays a role in human immunodeficiency virus type 1 (HIV-1) virus protein expression., [UniProtKB, PubMed]; CREB3 Plays an Important Role in HPSE-Facilitated HSV-1 Release in Human Corneal Epithelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Comparative Analysis of CREB3 and CREB3L2 Protein Expression in HEK293 Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Dysregulated CREB3 cleavage at the nuclear membrane induces karyoptosis-mediated cell death., [RefSeq, PubMed]; Endoplasmic reticulum (ER)-bound sequence-specific transcription factor that directly binds DNA and activates transcription (PubMed:10984507, PubMed:15845366, PubMed:16940180, PubMed:19779205, PubMed:9271389). Plays a role in the unfolded protein response (UPR), promoting cell survival versus ER stress-induced apoptotic cell death (PubMed:15845366, PubMed:16940180). Also involved in cell proliferation, migration and differentiation, tumor suppression and inflammatory gene expression. Acts as a positive regulator of LKN-1/CCL15-induced chemotaxis signaling of leukocyte cell migration (PubMed:15001559, PubMed:17296613, PubMed:19779205). Associates with chromatin to the HERPUD1 promoter (PubMed:16940180). Also induces transcriptional activation of chemokine receptors (PubMed:17296613, PubMed:18587271)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Functions as a negative transcriptional regulator in ligand-induced transcriptional activation of the glucocorticoid receptor NR3C1 by recruiting and activating histone deacetylases (HDAC1, HDAC2 and HDAC6). Also decreases the acetylation level of histone H4. Does not promote the chemotactic activity of leukocyte cells., [UniProtKB, PubMed]; Potentially functional genetic variants in ferroptosis-related CREB3 and GALNT14 genes predict survival of hepatitis B virus-related hepatocellular carcinoma., [RefSeq, PubMed]; This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-response element and regulates cell proliferation. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. This protein also plays a role in leukocyte migration, tumor suppression, and endoplasmic reticulum stress-associated protein degradation. Additional transcript variants have been identified, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]., [RefSeq]; This is the transcriptionally active form that translocates to the nucleus and activates unfolded protein response (UPR) target genes during endoplasmic reticulum (ER) stress response. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]-3') and C/EBP sequences present in many promoters to activate transcription of the genes. Binds to the unfolded protein response element (UPRE) consensus sequences sites. Binds DNA to the 5'-CCAC[GA]-3'half of ERSE II (5'-ATTGG-N-CCACG-3')., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 10, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 13, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D0PTW6;O14671;O14919;Q5TCV1;Q96GK8;Q9H2W3;Q9UE77", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0019046 release from viral latency;GO:0090045 positive regulation of deacetylase activity;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006935 chemotaxis", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "O43889-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UUV9-1", "uniprot_id": [ { "id": "CRTC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UUV9", "type": "external" } ], "mass": 67300.0, "length": 634, "protein_name": "CREB-regulated transcription coactivator 1", "gene_name": "CRTC1", "organism": "Human", "refseq_name": "CREB-regulated transcription coactivator 1 isoform 3", "refseq_ac": [ { "id": "NP_001091952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952", "type": "external" } ], "gene_names_uniprotkb": "CRTC1; KIAA0616; MECT1; TORC1; WAMTP1", "gene_names_refseq": "CRTC1; MAML2; MECT1; Mam-2; TORC-1; TORC1; WAMTP1", "protein_names_uniprotkb": "CREB-regulated transcription coactivator 1; Mucoepidermoid carcinoma translocated protein 1; TORC-1; Transducer of CREB protein 1; Transducer of regulated cAMP response element-binding protein 1", "protein_names_refseq": "CREB-regulated transcription coactivator 1 isoform 3; Mastermind-like protein 2; mucoepidermoid carcinoma translocated protein 1; transducer of regulated cAMP response element-binding protein (CREB) 1", "tax_id": 9606, "disease": "major depressive disorder (Disease Ontology:DOID:1470); middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:23373); (R-HSA-2151201); (R-HSA-9707616); (R-HSA-9931509); (R-HSA-9931510)", "pathway_count": 5, "publication_count": 110, "publication_id_list": "10.1101/2023.09.13.557529;10198158;10381560;10412986;10643692;10713165;10857746;11237011;11340167;11387216;11809803;12130498;12356737;12374852;12377782;12511571;12539049;12563009;12745923;14506290;14536081;14720503;14750904;15175654;15589160;15665827;15684387;15729701;15761026;16079181;16079853;16788062;16809310;16817901;16890199;16908542;16911507;16980408;17031457;17081983;17210223;17437997;17525332;17715127;17923681;17994337;18006707;18037887;18215119;18317514;18343819;18669648;18680753;19001277;19244510;19356719;19417006;19710360;1971514;19951946;20581824;20817722;21479263;21628546;23186163;23699513;24196956;2539258;25505266;26388727;27754849;28111073;29242379;29314611;29393594;29632046;30429286;30611118;31748741;31848261;32157095;32354867;32357974;32387766;32695117;33298915;3345742;33912179;33968037;34509645;34932366;35051231;35993578;36010968;36115844;36675234;38253038;38972355;39531497;7629110;7799916;8108407;8333869;8415693;8622974;8887638;9079689;9144434;9178750;9286700", "class_list": "", "function": "(Microbial infection) Plays a role of coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR)., [UniProtKB, PubMed]; Cloning and functional analyses of the t(11;19) fusion oncogene: t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway. Erratum:[Nat Genet. 2003 Mar;33(3):430], [RefSeq, PubMed]; Cloning of a novel fusion gene in mucoepidermoid carcinomas & benign Warthin's tumors; the fusion, which results from a translocation, creates a chimeric gene in which exon 1 of a novel gene designated WAMTP1 is linked to exons 2-5 of MAML2 [WAMPT1], [RefSeq, PubMed]; Cutaneous Melanocytic Tumor With CRTC1::TRIM11 Translocation : An Emerging Entity Analyzed in a Series of 41 Cases., [RefSeq, PubMed]; Establishment of Mucoepidermoid Carcinoma Cell Lines from Surgical and Recurrence Biopsy Specimens. Publication Status: Online-Only, [RefSeq, PubMed]; Oncogenic RAS commandeers amino acid sensing machinery to aberrantly activate mTORC1 in multiple myeloma. Erratum:[Nat Commun. 2022 Oct 3;13(1):5830. doi: 10.1038/s41467-022-33618-w. PMID: 36192480] Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PGC1alpha and inducer of mitochondrial biogenesis in muscle cells. In the hippocampus, involved in late-phase long-term potentiation (L-LTP) maintenance at the Schaffer collateral-CA1 synapses. May be required for dendritic growth of developing cortical neurons (By similarity). In concert with SIK1, regulates the light-induced entrainment of the circadian clock. In response to light stimulus, coactivates the CREB-mediated transcription of PER1 which plays an important role in the photic entrainment of the circadian clock., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Undifferentiated Round Cell Sarcoma With CRTC1::SS18 Fusion: Expanding Clinicopathologic Features of a Rare Translocation Sarcoma With Prominent Desmoplastic Stroma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NMG5;O75114;Q6Y3A3;Q7LDZ2;Q8IUL3;Q8IZ34;Q8IZL1;Q8N6W3;Q96AI8;Q9H801", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008140 cAMP response element binding protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051289 protein homotetramerization;GO:0071320 cellular response to cAMP;GO:0048511 rhythmic process", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q6UUV9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T0N5-1", "uniprot_id": [ { "id": "FBP1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T0N5", "type": "external" } ], "mass": 70065.0, "length": 605, "protein_name": "Formin-binding protein 1-like", "gene_name": "FNBP1L", "organism": "Human", "refseq_name": "formin-binding protein 1-like isoform 1", "refseq_ac": [ { "id": "NP_001020119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020119", "type": "external" } ], "gene_names_uniprotkb": "FNBP1L; C1orf39; TOCA1", "gene_names_refseq": "C1orf39; FNBP1L; TOCA1", "protein_names_uniprotkb": "Formin-binding protein 1-like; Toca-1; Transducer of Cdc42-dependent actin assembly protein 1", "protein_names_refseq": "formin-binding protein 1-like isoform 1; toca-1; transducer of Cdc42-dependent actin assembly 1; transducer of Cdc42-dependent actin assembly protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54874); (R-HSA-8856828); (R-HSA-9013148); (R-HSA-9013409)", "pathway_count": 4, "publication_count": 365, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10535736;10542231;10559246;10559856;10559861;10559924;10579713;10625686;10699171;10699464;10724160;10766823;10873802;10967094;11007481;11058585;11082044;11085924;11149925;11231140;11237011;11239472;11306516;11373293;11396949;11431473;11432776;11470803;11516654;11517213;11532990;11577110;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11877457;11877461;11884391;11889126;11912491;11948177;12057195;12071859;12093360;12096337;12172552;12195014;12213833;12221096;12351724;12432077;12447393;12456725;12464619;12531887;12547822;12650940;12773384;12847086;12857875;12860998;12877655;12907671;12952949;14506234;14512443;14555962;14581451;14617351;14622578;14622579;15023524;15064355;15107133;15133129;15147912;15157669;15252009;15260957;15260990;15302923;15304341;15318165;15339664;15342493;15485661;15502812;15502813;15601624;15611138;15649145;15703209;15710388;15728722;15802264;15850391;15895077;15897194;15916959;16103228;16112081;16116428;16184169;16215232;16217026;16326391;16410077;16418535;16516836;16519628;16630611;16707488;16714282;16757518;16777452;16777849;16798879;16862148;16880396;16896804;16903783;16968698;17018281;17035995;17064668;17077126;17145773;17158794;17196961;17214551;17244649;17494869;17512409;17540576;17599059;17609109;17681954;17702745;17762867;17765681;17804252;17932950;17976533;17978091;18045877;18056264;18093523;18218625;18363964;18388313;18426980;1847920;18653540;18669648;18786931;18790740;18835169;18838382;18929667;18981233;19092055;19287005;19296720;19342671;19458185;19536138;19575674;19603039;19605563;19696796;19713939;19776351;19798448;19809571;19934221;20033059;20059951;20068231;20211604;20231386;20428113;20448150;20679435;20826345;20946875;21148482;2115402;21187331;21278753;21316588;21406692;21445324;21454492;21482805;21499258;21542010;21565175;21613211;21613550;21685891;21779028;21841790;21865595;21883765;21927000;21927001;21962517;21989057;22004470;22096251;22099461;22233676;22298643;22461490;22484487;22505844;22571869;22608513;22815487;22863004;22970203;22971344;23029280;23186163;23200924;23255595;23297414;23406282;23434736;23536704;23572525;23718289;23823722;23861397;23891661;24086303;24130457;24186068;24259668;24275569;24335996;24352656;24581490;24584464;24789820;24933155;24966051;24996924;25024229;25107275;25211221;25303366;25341920;25418920;25547174;25576301;25704760;25721503;25795300;25862245;25963737;26042225;26129894;26299518;26403691;26529257;26598554;26887924;26992070;27096001;27129201;27145964;27216196;27481945;27555588;27600516;27798618;27846572;28028151;28196833;28218747;28825699;28832583;28834231;28860633;28904123;29242379;29437277;29488864;29557506;30061681;30484775;30853411;31844290;31871319;32157095;32203420;32302585;32488085;32938616;33298915;33592498;33968037;33981976;34087483;34185709;35580925;36010968;36215666;37938771;38665916;6146630;7479768;7512369;7673236;7721814;7753201;7877694;8021274;8524399;8537347;8552632;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9092476;9100026;9113980;9268338;9305890;9405671;9427626;9428629;9438849;9490638;9497316;9635431;9659915;9670022;9736607;9829970;9843499;9846874", "class_list": "", "function": "During Shigella flexneri infection host protein Toca-1 precipitate not only the Shigella type 3 secreted effector protein IcsB, but also the type 3 secreted proteins OspC3, IpgD and IpaB. In infected cells, OspC3-mediated restriction of IL-18 production does not require the interaction with Toca-1., [RefSeq, PubMed]; Loss of p53 tumor suppressor function in breast cancers leads to upregulation of Toca-1, and results in enhanced risk of developing metastatic disease. Publication Status: Online-Only, [RefSeq, PubMed]; Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. May bind to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promote membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by activating the WASL/N-WASP-WASPIP/WIP complex, the predominant form of WASL/N-WASP in cells. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Essential for autophagy of intracellular bacterial pathogens., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; This suggests that TOCA1 binding to Cdc42 is an early step in the Cdc42-dependent pathways that govern actin dynamics, and the differential binding affinities of the effectors facilitate a handover from TOCA1 to N-WASP, which can then drive recruitment of the actin-modifying machinery., [RefSeq, PubMed]; Toca-1 promotes actin nucleation by activating the N-WASP-WIP/CR16 complex, the predominant form of N-WASP in cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "J3QSS4;Q5T0N6;Q6B097;Q6P653;Q6R4Q4;Q9NXG1", "ec_number_list": [], "go_molecular_function": "GO:0045296 cadherin binding;GO:0008289 lipid binding;GO:0051020 GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0010324 membrane invagination;GO:0007165 signal transduction;GO:0006914 autophagy;GO:0060271 cilium assembly;GO:0006900 vesicle budding from membrane", "synthesized_glycan_count": 0, "hit_score": 36.8, "record_id": "Q5T0N5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52564-1", "uniprot_id": [ { "id": "MP2K6_HUMAN", "url": "https://www.uniprot.org/uniprot/P52564", "type": "external" } ], "mass": 37492.0, "length": 334, "protein_name": "Dual specificity mitogen-activated protein kinase kinase 6", "gene_name": "MAP2K6", "organism": "Human", "refseq_name": "dual specificity mitogen-activated protein kinase kinase 6 isoform 1", "refseq_ac": [ { "id": "NP_002749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002749", "type": "external" } ], "gene_names_uniprotkb": "MAP2K6; MEK6; MKK6; PRKMK6; SKK3", "gene_names_refseq": "CRCMSL; MAP2K6; MAPKK6; MEK6; MKK6; PRKMK6; SAPKK-3; SAPKK3", "protein_names_uniprotkb": "Dual specificity mitogen-activated protein kinase kinase 6; 2.7.12.2; MAP kinase kinase 6; MAPK/ERK kinase 6; MAPKK 6; MEK 6; SAPK kinase 3; SAPKK-3; SAPKK3; Stress-activated protein kinase kinase 3", "protein_names_refseq": "Colorectal Cancer Metastasis-Suppressed LncRNA; MAPK/ERK kinase 6; MAPKK 6; MEK 6; SAPK kinase 3; dual specificity mitogen-activated protein kinase kinase 6 isoform 1; dual specificity mitogen-activated protein kinase kinase 6; protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6); stress-activated protein kinase kinase 3", "tax_id": 9606, "disease": "Pick's disease (Disease Ontology:DOID:11870); Parkinson's disease (Disease Ontology:DOID:14330); restrictive cardiomyopathy (Disease Ontology:DOID:397); ovarian carcinoma (Disease Ontology:DOID:4001); cervical cancer (Disease Ontology:DOID:4362); progressive supranuclear palsy (Disease Ontology:DOID:678); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:5608); (R-HSA-168638); (R-HSA-2559580); (R-HSA-450302); (R-HSA-525793); (R-HSA-6811555); (R-HSA-9020702); (R-HSA-9833482)", "pathway_count": 8, "publication_count": 333, "publication_id_list": "10075690;10082513;10094049;10224040;10329646;10330143;10347217;10347227;10348343;10400669;10497253;10514433;10601328;10620360;10626894;10648614;10698683;10702308;10722742;10772813;10805738;10848580;10854325;10866685;10871633;10882101;10918611;10961885;11087742;11094434;11096080;11104681;11134010;11152499;11156368;11237011;11238103;11238927;11278865;11279118;11313968;11337501;11350938;11438540;11460167;11500375;11564866;11689443;11727828;11781817;11782431;11909525;11939789;11960013;11985496;12134156;12171911;12189133;12193592;12231563;12397061;12421820;12435631;12496252;12514169;12527755;12538665;12634428;12791687;12791997;12796777;12808055;12859901;12860405;12882984;12917691;13130464;1373135;14507994;14514672;14532106;14585331;14625308;14633987;15229216;15287722;15299030;15327770;15375157;15458637;15550393;15563468;15620648;15737233;15752359;15837794;15866172;15907845;15917247;16024799;16179258;16179259;16186825;16337592;16373505;16431927;16436515;16600570;16717090;16728640;16826196;16949365;1695551;16982605;17047224;17079286;17135271;17141195;17196820;17210787;17254968;17255097;17303577;17322306;17332741;17344414;17395714;17496917;17507369;17562858;17675297;17765224;17825402;17854274;17875933;17890055;17940011;17997719;18070982;18079694;18096616;18180283;1828071;1833184;18365017;18438411;18669648;18691976;18767875;18793328;18835251;18957415;19141286;19229320;19264966;19416861;19451217;19451218;19462008;19528227;19535145;19564926;19664994;19710021;19733181;19804757;19838063;19903815;20160094;20300203;20364819;20395957;20519500;20583997;20685959;20869211;21072047;21123651;21294215;2139180;2147937;21518807;21636578;21937648;21978664;21986495;21994559;22020331;22214662;22325352;22336108;2247437;22683641;22802624;22986343;23084476;23157661;23193159;23229543;23732991;23744074;24347309;24623135;24659800;24753571;24936062;25653431;25848059;26432638;26446704;26488609;26716879;26817845;27208315;27269119;27423063;27466718;27974558;28069888;28167698;28218747;28228285;28281686;28510447;28765891;28904123;29170442;29175459;29231267;29242379;29348664;29394925;29395325;29437277;29440070;2946959;29501855;29557506;30174290;30315122;30379171;30770398;31031002;31844290;32093270;32716602;32801355;33298915;33808629;33911136;34174402;34974812;35192930;35685460;35689709;35947956;36205565;36349938;36712380;37127961;37217939;40596516;7491766;7515177;7535770;7545299;7565688;7588633;7628694;7693978;7737357;7816143;7859739;7903669;8001816;8078588;8259215;8319905;8327496;8332913;8533096;8576172;8576179;8599092;8621675;8622669;8622688;8626550;8626699;8661426;8663074;8741839;8774846;8810342;8837778;8846784;8861944;8910500;8974401;9030721;9034343;9069290;9079663;9162092;9195981;9218798;9346484;9371760;9418854;9430229;9430721;9442054;9521856;9528799;9529249;9564042;9628874;9687506;9712898;9737981;9744859;9768359;9779990;9786951;9819388;9824166;9841871;9858528;9859996;9920933;9988769;9990852;9990853", "class_list": "", "function": "APEX1 promotes the oncogenicity of hepatocellular carcinoma via regulation of MAP2K6., [RefSeq, PubMed]; Circ_0005925 Promotes Granulosa Cell Growth by Targeting MiR-324-3p to Upregulate MAP2K6 in Polycystic Ovary Syndrome., [RefSeq, PubMed]; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. With MAP3K3/MKK3, catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinases p38 MAPK11, MAPK12, MAPK13 and MAPK14 and plays an important role in the regulation of cellular responses to cytokines and all kinds of stresses. Especially, MAP2K3/MKK3 and MAP2K6/MKK6 are both essential for the activation of MAPK11 and MAPK13 induced by environmental stress, whereas MAP2K6/MKK6 is the major MAPK11 activator in response to TNF. MAP2K6/MKK6 also phosphorylates and activates PAK6. The p38 MAP kinase signal transduction pathway leads to direct activation of transcription factors. Nuclear targets of p38 MAP kinase include the transcription factors ATF2 and ELK1. Within the p38 MAPK signal transduction pathway, MAP3K6/MKK6 mediates phosphorylation of STAT4 through MAPK14 activation, and is therefore required for STAT4 activation and STAT4-regulated gene expression in response to IL-12 stimulation. The pathway is also crucial for IL-6-induced SOCS3 expression and down-regulation of IL-6-mediated gene induction; and for IFNG-dependent gene transcription. Has a role in osteoclast differentiation through NF-kappa-B transactivation by TNFSF11, and in endochondral ossification and since SOX9 is another likely downstream target of the p38 MAPK pathway. MAP2K6/MKK6 mediates apoptotic cell death in thymocytes. Acts also as a regulator for melanocytes dendricity, through the modulation of Rho family GTPases., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MiR-1298-5p level downregulation induced by Helicobacter pylori infection inhibits autophagy and promotes gastric cancer development by targeting MAP2K6., [RefSeq, PubMed]; PPM1G promotes the progression of lung adenocarcinoma by inhibiting p38 activation via dephosphorylation of MEK6., [RefSeq, PubMed]; This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.149", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0000165 MAPK cascade;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 33.6, "record_id": "P52564-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0T7-1", "uniprot_id": [ { "id": "RAB17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0T7", "type": "external" } ], "mass": 23491.0, "length": 212, "protein_name": "Ras-related protein Rab-17", "gene_name": "RAB17", "organism": "Human", "refseq_name": "ras-related protein Rab-17", "refseq_ac": [ { "id": "NP_071894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071894", "type": "external" } ], "gene_names_uniprotkb": "RAB17", "gene_names_refseq": "RAB17", "protein_names_uniprotkb": "Ras-related protein Rab-17; 3.6.5.2", "protein_names_refseq": "ras-related protein Rab-17", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); carcinoma (Disease Ontology:DOID:305); kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:64284); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "11141079;11230166;11237011;11389151;11447212;11675392;16401880;1648736;17114793;17411337;18532927;19603039;21291502;22328529;22694141;24023390;25341920;26969162;28471261;29557506;30484775;31841274;31959474;32157095;35051231;39242574;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "ALS2, the small GTPase Rab17-interacting protein, regulates maturation and sorting of Rab17-associated endosomes., [RefSeq, PubMed]; Downregulation of Rab17 promotes cell proliferation and invasion in non-small cell lung cancer through STAT3/HIF-1alpha/VEGF signaling., [RefSeq, PubMed]; RAB17 promotes endometrial cancer progression by inhibiting TFRC-dependent ferroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Rab17 is rapidly recruited to efferosomes, followed by migration of the efferosome to the cell center where it intermixes with lysosomes and undergoes Rab17-dependent vesiculation., [RefSeq, PubMed]; The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009]., [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 set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). RAB17 is involved in transcytosis, the directed movement of endocytosed material through the cell and its exocytosis from the plasma membrane at the opposite side. Mainly observed in epithelial cells, transcytosis mediates for instance, the transcellular transport of immunoglobulins from the basolateral surface to the apical surface. Most probably controls membrane trafficking through apical recycling endosomes in a post-endocytic step of transcytosis. Required for melanosome transport and release from melanocytes, it also regulates dendrite and dendritic spine development (By similarity). May also play a role in cell migration (PubMed:22328529)., [UniProtKB, UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53QV6;Q6IA73;Q6PJZ0;Q9BVU1;Q9H9U9", "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:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0030425 dendrite", "go_biological_process": "GO:0002415 immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor;GO:0006886 intracellular protein transport;GO:0046847 filopodium assembly;GO:0060271 cilium assembly;GO:0051963 regulation of synapse assembly", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9H0T7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48378-1", "uniprot_id": [ { "id": "RFX2_HUMAN", "url": "https://www.uniprot.org/uniprot/P48378", "type": "external" } ], "mass": 79987.0, "length": 723, "protein_name": "DNA-binding protein RFX2", "gene_name": "RFX2", "organism": "Human", "refseq_name": "DNA-binding protein RFX2 isoform a", "refseq_ac": [ { "id": "NP_000626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000626", "type": "external" } ], "gene_names_uniprotkb": "RFX2", "gene_names_refseq": "RFX2", "protein_names_uniprotkb": "DNA-binding protein RFX2; Regulatory factor X 2", "protein_names_refseq": "DNA-binding protein RFX2 isoform a; DNA-binding protein RFX2; HLA class II regulatory factor RFX2; regulatory factor X 2; regulatory factor X, 2 (influences HLA class II expression); trans-acting regulatory factor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5990)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10330134;11237011;16959974;23186163;23481700;24714562;26992070;29557506;30315122;30429286;31844290;32157095;32357974;32387766;32897882;32938616;33298915;33392160;33453283;33592498;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34405274;34509645;34762273;35051231;35494241;35580925;36010968;38057505;38665916;39894887;8289803", "class_list": "", "function": "Androglobin gene expression patterns and FOXJ1-dependent regulation indicate its functional association with ciliogenesis., [RefSeq, PubMed]; Novel variations in spermatogenic transcription regulators RFX2 and TAF7 increase risk of azoospermia., [RefSeq, PubMed]; RFX2 promotes tumor cell stemness through epigenetic regulation of PAF1 in spinal ependymoma., [RefSeq, PubMed]; This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that acts as a key regulator of spermatogenesis. Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (By similarity). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters (PubMed:10330134). Probably activates transcription of the testis-specific histone gene H1-6 (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "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": "A8K581;B3KNC4;Q6IQ44;Q8SNA2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007286 spermatid development;GO:0060271 cilium assembly;GO:0001675 acrosome assembly", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P48378-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UH99-1", "uniprot_id": [ { "id": "SUN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UH99", "type": "external" } ], "mass": 80311.0, "length": 717, "protein_name": "SUN domain-containing protein 2", "gene_name": "SUN2", "organism": "Human", "refseq_name": "SUN domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001186508", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186508", "type": "external" } ], "gene_names_uniprotkb": "SUN2; FRIGG; KIAA0668; RAB5IP; UNC84B", "gene_names_refseq": "SUN2; UNC84B; rab5IP", "protein_names_uniprotkb": "SUN domain-containing protein 2; Protein unc-84 homolog B; Rab5-interacting protein; Rab5IP; Sad1/unc-84 protein-like 2", "protein_names_refseq": "SUN domain-containing protein 2 isoform 1; SUN domain-containing protein 2; Sad1 unc-84 domain protein 2; nuclear envelope protein; protein unc-84 homolog B; rab5-interacting protein; sad1/unc-84 protein-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:25777); (R-HSA-1221632); (R-HSA-9918487)", "pathway_count": 3, "publication_count": 153, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10375507;10818110;11237011;11673449;12239280;12393179;12958361;14615979;15082709;15125634;15235794;17074750;17081983;17132086;17724119;18077418;18396275;18477386;18845190;19146767;19159218;19413330;19651622;19690332;20058876;20068231;20634189;21391237;21993680;22170055;22544926;22632968;22945352;23186163;23481700;23584533;24190977;24275569;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26244732;26375851;26735137;26768311;26811146;26992070;27543614;27600516;27846572;27862975;27869121;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29117567;29242379;29331515;29351928;29393594;29437277;29493099;29557506;29632046;29632711;29741879;29769354;29786170;29789417;30059200;30315122;30379171;30410026;30429286;30524438;30779550;31154438;31217245;31515493;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32890404;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34171305;34185709;34509645;34561969;34696522;34725712;34846842;34932366;35051231;35138101;35251023;35254053;35289036;35318648;35435724;35525855;35580925;35585045;36010968;36241641;36284347;37074911;37217939;37541260;37938771;38177122;38665916;39531497;40307207;40596516;40914422;8794855;9008167;9285814", "class_list": "", "function": "As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration. Required for nuclear migration in retinal photoreceptor progenitors implicating association with cytoplasmic dynein-dynactin and kinesin motor complexes, and probably B-type lamins; SUN1 and SUN2 seem to act redundantly. The SUN1/2:KASH5 LINC complex couples telomeres to microtubules during meiosis; SUN1 and SUN2 seem to act at least partial redundantly. Anchors chromosome movement in the prophase of meiosis and is involved in selective gene expression of coding and non-coding RNAs needed for gametogenesis. Required for telomere attachment to nuclear envelope and gametogenesis. May also function on endocytic vesicles as a receptor for RAB5-GDP and participate in the activation of RAB5., [UniProtKB, PubMed, UniProtKB]; FBXO2 targets glycosylated SUN2 for ubiquitination and degradation to promote ovarian cancer development. Publication Status: Online-Only, [RefSeq, PubMed]; SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]., [RefSeq]; SUN2 Modulates the Propagation of HSV-1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 21, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 15, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B0QY62;O75156;Q2NKN8;Q2T9F7;Q504T5;Q6B4H1;Q7Z3E3", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0043495 protein-membrane adaptor activity;GO:0005521 lamin binding;GO:0140444 cytoskeleton-nuclear membrane anchor activity", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005635 nuclear envelope;GO:0031965 nuclear membrane;GO:0010008 endosome membrane;GO:0005637 nuclear inner membrane", "go_biological_process": "GO:0021817 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;GO:0031022 nuclear migration along microfilament;GO:0090292 nuclear matrix anchoring at nuclear membrane;GO:0030335 positive regulation of cell migration;GO:0007052 mitotic spindle organization", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "Q9UH99-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSE2-1", "uniprot_id": [ { "id": "TMM79_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSE2", "type": "external" } ], "mass": 43520.0, "length": 394, "protein_name": "Transmembrane protein 79", "gene_name": "TMEM79", "organism": "Human", "refseq_name": "transmembrane protein 79", "refseq_ac": [ { "id": "NP_115699", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115699", "type": "external" } ], "gene_names_uniprotkb": "TMEM79; MATT", "gene_names_refseq": "MATT; TMEM79", "protein_names_uniprotkb": "Transmembrane protein 79; Mattrin", "protein_names_refseq": "mattrin; transmembrane protein 79", "tax_id": 9606, "disease": "atopic dermatitis (Disease Ontology:DOID:3310)", "pathway": " (hsa:84283)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;17081983;24060273;24084074;28904123;31154438;31844290;33592498;33936100;33968037;37936239;38809063", "class_list": "", "function": "Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation (By similarity)., [UniProtKB]; Overexpression of TMEM79 combined with SMG5 is related to prognosis, tumor immune infiltration and drug sensitivity in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM79 Ameliorates Cerebral Ischemia/Reperfusion Injury Through Regulating Inflammation and Oxidative Stress via the Nrf2/NLRP3 Pathway., [RefSeq, PubMed]; Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects. Erratum:[J Allergy Clin Immunol. 2015 Dec;136(6):1710. doi: 10.1016/j.jaci.2015.10.002. PMID: 28843836], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RE22;D3DVB8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0032588 trans-Golgi network membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0045055 regulated exocytosis;GO:0061436 establishment of skin barrier;GO:0002070 epithelial cell maturation;GO:0045684 positive regulation of epidermis development", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BSE2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBC4-1", "uniprot_id": [ { "id": "UBA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBC4", "type": "external" } ], "mass": 51852.0, "length": 463, "protein_name": "NEDD8-activating enzyme E1 catalytic subunit", "gene_name": "UBA3", "organism": "Human", "refseq_name": "NEDD8-activating enzyme E1 catalytic subunit isoform 1", "refseq_ac": [ { "id": "NP_003959", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003959", "type": "external" } ], "gene_names_uniprotkb": "UBA3; UBE1C", "gene_names_refseq": "NAE2; UBA3; UBE1C; hUBA3", "protein_names_uniprotkb": "NEDD8-activating enzyme E1 catalytic subunit; 6.2.1.64; NEDD8-activating enzyme E1C; Ubiquitin-activating enzyme 3; Ubiquitin-activating enzyme E1C; Ubiquitin-like modifier-activating enzyme 3", "protein_names_refseq": "NEDD8-activating enzyme E1 catalytic subunit isoform 1; NEDD8-activating enzyme E1 catalytic subunit; NEDD8-activating enzyme E1 subunit 2; NEDD8-activating enzyme E1C; Nedd8-activating enzyme hUba3; UBA3, ubiquitin-activating enzyme E1 homolog; ubiquitin-activating enzyme 3; ubiquitin-activating enzyme E1C (UBA3 homolog, yeast); ubiquitin-activating enzyme E1C (homologous to yeast UBA3)", "tax_id": 9606, "disease": "", "pathway": " (hsa:9039); (R-HSA-5607761); (R-HSA-5676590); (R-HSA-8951664); (R-HSA-983168); (R-HSA-9918485)", "pathway_count": 6, "publication_count": 223, "publication_id_list": "10207026;10535940;10597293;10811609;10878807;10973499;11062501;11069780;11230166;11237011;11239468;11259415;11292861;11292862;11337487;11350924;11454738;11520989;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12646924;12682069;12682107;12740388;12759363;12816948;14676825;14690597;14734113;14757770;15098107;15140882;15224091;15224092;15282312;15340381;15361859;15367669;15507651;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15838506;16171779;16303288;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17047224;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18212344;18266465;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19122653;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;20068231;20501935;21447816;21463634;21778237;21863050;21940857;22223895;22306028;22466964;22537386;2261476;22718757;22959436;23084921;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23658209;23912815;23986495;24074594;24076655;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25880248;26056282;26154972;26212330;26344709;26460955;26468529;26632597;26906416;27030794;27222660;27565346;27600516;27832191;27846572;27920218;28115426;28228285;28510447;28514659;28832583;28834231;28904123;29153394;29242379;29331515;29393594;29493099;29557506;29610346;29742433;29786170;30315122;30484775;30610225;30779550;31720911;31844290;31848261;31937595;31998317;32005965;32157095;32161166;32265295;32284348;32387766;32488085;32502341;32938616;32983136;33141586;33444648;33592498;33691108;33912179;33968037;34211107;34229054;34509645;34725712;35051231;35561310;35580925;36010968;36215666;36241641;36284347;37656220;37668436;37938771;38298057;40914422;8706131;8921937;9346238;9380723;9520446;9668046;9694792;9742107;9790970;9887101;9891082;9931503", "class_list": "", "function": "Catalytic subunit of the dimeric E1 enzyme, which activates NEDD8., [UniProtKB, UniProtKB, UniProtKB]; Catalytic subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Down-regulates steroid receptor activity. Necessary for cell cycle progression., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Conservation in the mechanism of Nedd8 activation by the human AppBp1-Uba3 heterodimer., [RefSeq, PubMed]; Structure and mutational analysis of human APPBP1-UBA3, the heterodimeric E1 enzyme for NEDD8, [RefSeq, PubMed]; The NEDD8-activating enzyme E1 UBA3 orchestrates the immunosuppressive microenvironment in lung adenocarcinoma via the NF-small ka, CyrillicB pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; UBA3 promotes the occurrence and metastasis of intrahepatic cholangiocarcinoma through MAPK signaling pathway., [RefSeq, PubMed]; UBE1C is upregulated and promotes neddylation of p53 in 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 24, "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": "A6NLB5;A8K027;O76088;Q9NTU3", "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": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0019781 NEDD8 activating enzyme activity;GO:0019788 NEDD8 transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0036211 protein modification process;GO:0006508 proteolysis;GO:0043687 post-translational protein modification;GO:0045116 protein neddylation", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "Q8TBC4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BW1-1", "uniprot_id": [ { "id": "UPP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BW1", "type": "external" } ], "mass": 33786.0, "length": 309, "protein_name": "Uracil phosphoribosyltransferase homolog", "gene_name": "UPRT", "organism": "Human", "refseq_name": "uracil phosphoribosyltransferase homolog isoform 1", "refseq_ac": [ { "id": "NP_659489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659489", "type": "external" } ], "gene_names_uniprotkb": "UPRT", "gene_names_refseq": "FUR1; UPP; UPRT", "protein_names_uniprotkb": "Uracil phosphoribosyltransferase homolog", "protein_names_refseq": "RP11-311P8.3; UMP pyrophosphorylase; UPRTase; uracil phosphoribosyltransferase (FUR1) homolog; uracil phosphoribosyltransferase homolog isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:139596)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;17384901;18626508;23301498;23481700;25645385;26992070;28228285;28832583;28834231;28904123;29242379;29557506;30429286;31154438;31217245;31844290;32157095;32488085;32502341;32938616;33592498;33691108;33968037;34932366;35051231;35580925;36010968", "class_list": "", "function": "Isolation, expression, purification, and characterization of human uracil phosphoribosyltransferase, [RefSeq, PubMed]; The efficacy of 5-FU-based chemotherapy in prostate cancers can be significantly improved by targeted expression of the suicide gene UPRT under the control of prostate-specific membrane antigen promoter/enhancer, [RefSeq, PubMed]; This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide metabolism, specifically the pyrimidine salvage pathway. The enzyme localizes to the nucleus and cytoplasm. The protein is a potential target for rational design of drugs to treat parasitic infections and cancer. [provided by RefSeq, Nov 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5JRL1;Q5JRL3;Q68DN0;Q96MW2", "ec_number_list": [], "go_molecular_function": "GO:0050262 ribosylnicotinamide kinase activity;GO:0061769 nicotinate riboside kinase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0007565 female pregnancy;GO:0032868 response to insulin;GO:0007595 lactation;GO:0006222 UMP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96BW1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B2RUY7-1", "uniprot_id": [ { "id": "VWC2L_HUMAN", "url": "https://www.uniprot.org/uniprot/B2RUY7", "type": "external" } ], "mass": 24570.0, "length": 222, "protein_name": "von Willebrand factor C domain-containing protein 2-like", "gene_name": "VWC2L", "organism": "Human", "refseq_name": "von Willebrand factor C domain-containing protein 2-like isoform 1 precursor", "refseq_ac": [ { "id": "NP_001073969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073969", "type": "external" } ], "gene_names_uniprotkb": "VWC2L", "gene_names_refseq": "VWC2L", "protein_names_uniprotkb": "von Willebrand factor C domain-containing protein 2-like; Brorin-like; VWC2-like protein", "protein_names_refseq": "VWC2-like protein; brorin-like; von Willebrand factor C domain containing protein 2 like; von Willebrand factor C domain-containing protein 2-like isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:402117)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "19852960;20468071;22209847;29242379", "class_list": "", "function": "May play a role in neurogenesis. May play a role in bone differentiation and matrix mineralization., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Vwc2l is a novel secreted protein that promotes matrix mineralization by modulating Osterix expression likely through TGF-beta superfamily growth factor signaling pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NC69;B2RUW7;B7X8X1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0045202 synapse;GO:0032281 AMPA glutamate receptor complex", "go_biological_process": "GO:0030514 negative regulation of BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "B2RUY7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNY5-1", "uniprot_id": [ { "id": "ZN232_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNY5", "type": "external" } ], "mass": 50697.0, "length": 444, "protein_name": "Zinc finger protein 232", "gene_name": "ZNF232", "organism": "Human", "refseq_name": "zinc finger protein 232 isoform c", "refseq_ac": [ { "id": "NP_001307882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307882", "type": "external" } ], "gene_names_uniprotkb": "ZNF232; ZSCAN11", "gene_names_refseq": "ZNF232; ZSCAN11", "protein_names_uniprotkb": "Zinc finger protein 232; Zinc finger and SCAN domain-containing protein 11", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 11; zinc finger protein 232 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:7775)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;11311944;16959974;29393594", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "I3L4J6", "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:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9UNY5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H972-1", "uniprot_id": [ { "id": "CN093_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H972", "type": "external" } ], "mass": 58697.0, "length": 538, "protein_name": "Uncharacterized protein C14orf93", "gene_name": "C14orf93", "organism": "Human", "refseq_name": "uncharacterized protein C14orf93 isoform a precursor", "refseq_ac": [ { "id": "NP_001124178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124178", "type": "external" } ], "gene_names_uniprotkb": "C14orf93", "gene_names_refseq": "C14orf93; RTFC", "protein_names_uniprotkb": "Uncharacterized protein C14orf93", "protein_names_refseq": "regulator of thyroid function and cancer; uncharacterized protein C14orf93 isoform a precursor; uncharacterized protein C14orf93", "tax_id": 9606, "disease": "", "pathway": " (hsa:60686)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;18452278;23186163;26992070;27846572;27864143;28904123;29393594;29786170;31844290;32357974;32488085;32897882;32938616;32983136;33298915;33912179;39894887", "class_list": "", "function": "RTFC promotes thyroid cancer cell survival under starving conditions, and thyroid cancer cell migration. The R115Q, V205M and G209D RTFC mutants enhance the colony forming capacity of thyroid cancer cells, and are able to transform normal thyroid cells. In summary, our data suggest the roles of RTFC in thyroid 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B7WP03;D3DS38;D3DS39;Q86SE6;Q96CF7;Q9HA68", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9H972-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3J2-1", "uniprot_id": [ { "id": "VP35L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3J2", "type": "external" } ], "mass": 109563.0, "length": 963, "protein_name": "VPS35 endosomal protein-sorting factor-like", "gene_name": "VPS35L", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "VPS35L; 101F10.2; C16orf62", "gene_names_refseq": "", "protein_names_uniprotkb": "VPS35 endosomal protein-sorting factor-like; Esophageal cancer-associated protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "Ritscher-Schinzel syndrome (Disease Ontology:DOID:0060565); Ritscher-Schinzel syndrome 3 (MONDO:MONDO:0030864)", "pathway": " (hsa:57020); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "11230166;11237011;22424782;23186163;23481700;23650620;25355947;25576301;25645385;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27920218;28228285;28832583;28834231;28892079;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;31020640;31092671;31217245;31712251;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34211107;34405274;34509645;34561969;34932366;35051231;35580925;36010968;37938771;38253038;8692836", "class_list": "", "function": "(Microbial infection) The heterotrimeric retriever complex, in collaboration with the CCC complex, mediates the exit of human papillomavirus to the cell surface., [UniProtKB, PubMed]; Acts as a component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) (PubMed:28892079). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes (PubMed:28892079). In the endosomes, drives the retrieval and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling (PubMed:28892079). Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association with the CCC complex and cooperation with the WASH complex on early endosomes. Does not seem to be required for CCC complex stability (PubMed:25355947)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K2M1;O43329;Q69YI1;Q6PDA0;Q7L371;Q86W66;Q8WXA5;Q9H0L7;Q9H7C8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0101003 ficolin-1-rich granule membrane;GO:0010008 endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0015031 protein transport;GO:0032456 endocytic recycling;GO:0006893 Golgi to plasma membrane transport", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q7Z3J2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULV3-1", "uniprot_id": [ { "id": "CIZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULV3", "type": "external" } ], "mass": 100045.0, "length": 898, "protein_name": "Cip1-interacting zinc finger protein", "gene_name": "CIZ1", "organism": "Human", "refseq_name": "cip1-interacting zinc finger protein isoform 2", "refseq_ac": [ { "id": "NP_001124487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124487", "type": "external" } ], "gene_names_uniprotkb": "CIZ1; LSFR1; NP94; ZNF356", "gene_names_refseq": "CIZ1; LSFR1; NP94; ZNF356", "protein_names_uniprotkb": "Cip1-interacting zinc finger protein; CDKN1A-interacting zinc finger protein 1; Nuclear protein NP94; Zinc finger protein 356", "protein_names_refseq": "Cip1-interacting zinc finger protein; cip1-interacting zinc finger protein isoform 2; nuclear protein NP94; zinc finger protein 356", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:25792)", "pathway_count": 1, "publication_count": 106, "publication_id_list": "10369878;10529385;11237011;12824700;17525332;18669648;19664995;19690332;20068231;21136679;22424782;22447717;22544926;22645359;22869377;23186163;23301498;23481700;24715725;25218447;25418920;25576301;25645385;25736292;25755297;25772364;26024233;26154972;26768311;26811146;26992070;27543614;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28860189;28904123;29242379;29331515;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30524438;30779550;31154438;31217245;31222486;31252164;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32196604;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771", "class_list": "", "function": "Data indicate that Ciz1 is localized in the nucleus and is expressed in a wide range of tissues, especially the pancreas and the brain; formulated a consensus DNA sequence, ARYSR(0-2)YYAC, recognized by Ciz1, [RefSeq, PubMed]; May regulate the subcellular localization of CIP/WAF1., [UniProtKB]; Silencing of CIZ1 suppressed bladder cancer cell proliferation through inducing apoptosis and reducing cell cycle progression, [RefSeq, PubMed]; The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]; Upregulation of lncRNA DANCR functions as an oncogenic role in non-small lung cancer by regulating miR-214-5p/CIZ1 axis., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "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": "A8K9J8;B4E131;B7ZAS8;Q5SYW3;Q5SYW5;Q8WU72;Q9H868;Q9NYM8;Q9UHK4;Q9Y3F9;Q9Y3G0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding;GO:0030332 cyclin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0060816 random inactivation of X chromosome", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q9ULV3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13586-1", "uniprot_id": [ { "id": "STIM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13586", "type": "external" } ], "mass": 77423.0, "length": 685, "protein_name": "Stromal interaction molecule 1", "gene_name": "STIM1", "organism": "Human", "refseq_name": "stromal interaction molecule 1 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001264891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264891", "type": "external" } ], "gene_names_uniprotkb": "STIM1; GOK", "gene_names_refseq": "D11S4896E; GOK; IMD10; STIM1; STRMK; TAM1; TAM", "protein_names_uniprotkb": "Stromal interaction molecule 1", "protein_names_refseq": "stromal interaction molecule 1 isoform 3 precursor", "tax_id": 9606, "disease": "Stormorken syndrome (Disease Ontology:DOID:0060354); tubular aggregate myopathy 1 (Disease Ontology:DOID:0080089); immunodeficiency 10 (Disease Ontology:DOID:0111970); stomach cancer (Disease Ontology:DOID:10534); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); nephrogenic diabetes insipidus (Disease Ontology:DOID:12387); dilated cardiomyopathy (Disease Ontology:DOID:12930); lung cancer (Disease Ontology:DOID:1324); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hepatocellular carcinoma (Disease Ontology:DOID:684); gastrointestinal stromal tumor (Disease Ontology:DOID:9253); colorectal cancer (Disease Ontology:DOID:9256); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6786); (R-HSA-139853); (R-HSA-5578775); (R-HSA-983695)", "pathway_count": 4, "publication_count": 277, "publication_id_list": "10.1101/2023.09.13.557529;10051622;10220561;10432293;10498607;10556826;10648173;10706702;10770799;1081164;10880360;10913253;10983984;11004585;11042164;11062458;11071869;11226282;11237011;11449366;11463338;11606584;11805119;11901194;11904675;11909947;11983428;12119109;12181444;12453414;12456653;12573241;12754519;12832055;12953268;1372019;1374290;1375264;1376928;15161916;15174025;15187135;15260953;1550550;15509800;15598648;15754088;15866891;1599430;16005298;16208375;16263699;16537481;16733527;16754674;16766533;16807233;16849466;16906149;1693919;1702903;1705565;17081983;17224452;17357072;17452328;17486119;17905723;17924679;18006696;18025150;18052078;18088087;18187424;18326500;18420269;18452278;18578522;18596693;18669648;18767875;18818202;18843204;18854159;18995841;19159218;19182790;19206206;19249086;19278978;19367720;19372136;19413330;19415658;19420366;19622606;19632184;19651622;19664994;19690332;19706554;19751721;19754898;19881501;20058876;20068231;2011584;20166139;20192804;20388710;20418871;20876309;21108950;21408196;21469132;21788372;21822214;22084111;22180443;22190180;22210847;2226863;22298426;22427649;22451904;22464749;22494970;22586105;22707725;22914293;22972900;2303036;2304550;23090970;23186163;23212906;23332920;23362265;23481700;23549614;23610579;23687376;24069340;24095720;24114840;24190977;24275569;2430951;24351972;24570283;2457808;24591628;24619930;24621671;2477373;25326555;25384971;25418920;25447552;25504574;25562429;25576301;25577287;2559024;25645385;25892735;25953320;25994790;25996873;26154972;26322679;26375851;26929215;26992070;27185316;27452731;27846572;27865927;28063628;28218747;28219928;28341841;2838329;28510447;28645727;28832583;28834231;28855257;28904123;29242379;29326165;29393594;29437277;29493099;29508533;2953725;29557506;29632046;29632711;29741879;29769354;29786170;30059200;30315122;30410026;30481768;30643259;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32387766;32415068;32488085;32502341;32897882;32938616;32983136;33023909;33141586;33298915;33592498;33730587;33968037;34019948;34171305;34561969;3500860;35051231;35251023;35254053;35580925;35705054;36010968;36215666;36284347;37074911;39531497;40307207;40498864;40596516;41289387;4589993;6328127;6335036;7524079;7528218;7538118;7592958;7687428;7687539;7688784;7691807;7702581;7927516;7929371;803528;8163536;8306975;8646775;8798450;8918259;8921403;8947047;9235916;9326643;9341187;9346285;9377559;9382888;9565569;9697839;9705962;9930701", "class_list": "", "function": "A short isoform of STIM1 confers frequency-dependent synaptic enhancement., [RefSeq, PubMed]; Acts as a Ca(2+) sensor that gates two major inward rectifying Ca(2+) channels at the plasma membrane: Ca(2+) release-activated Ca(2+) (CRAC) channels and arachidonate-regulated Ca(2+)-selective (ARC) channels (PubMed:15866891, PubMed:16005298, PubMed:16208375, PubMed:16537481, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:18854159, PubMed:19182790, PubMed:19249086, PubMed:19622606, PubMed:19706554, PubMed:22464749, PubMed:24069340, PubMed:24351972, PubMed:24591628, PubMed:25326555, PubMed:26322679, PubMed:28219928, PubMed:32415068). Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates CRAC channel pore-forming subunits ORA1, ORA2 and ORAI3 to generate sustained and oscillatory Ca(2+) entry (PubMed:16208375, PubMed:16537481, PubMed:32415068). Involved in enamel formation (PubMed:24621671). Plays a role in regulating the type I interferon response by retaining the signaling adapter STING at the endoplasmic reticulum (PubMed:30643259)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Lack of STIM1 or ORAI1 in human patients and mice strongly compromises T cell function[review] Review article, [RefSeq, PubMed]; STIM1 T cell deficiency precipitated the development of lethal KS in this child upon infection with HHV-8., [RefSeq, PubMed]; STIM1L was expressed in several mammalian tissues, suggesting that many cell types rely on this Ca(2+) sensor for their Ca(2+) homeostasis and intracellular signaling, [RefSeq, PubMed]; Studies indicate that in vertebrates, stromal interaction molecule proteins STIM1 and STIM2 are expressed ubiquitously throughout cell types. Review article, [RefSeq, PubMed]; Study reports 3 siblings from 1 kindred with a syndrome of immunodeficiency, hepatosplenomegaly, autoimmune hemolytic anemia, thrombocytopenia, muscular hypotonia & defective enamel dentition; 2 of the patients have homozygous nonsense mutation in STIM1, [RefSeq, PubMed]; The molecular kinetics of STIM1 and Orai1 are major determinants of calcium influx in cultured cell., [RefSeq, PubMed]; This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 32, "reported_mutagensis": 29, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 13, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "E9PQJ4;Q8N382", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0042802 identical protein binding;GO:0005246 calcium channel regulator activity;GO:0005509 calcium ion binding;GO:0051010 microtubule plus-end binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005874 microtubule;GO:0005886 plasma membrane;GO:0044853 plasma membrane raft;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006874 intracellular calcium ion homeostasis;GO:0045766 positive regulation of angiogenesis;GO:0051924 regulation of calcium ion transport;GO:0070166 enamel mineralization;GO:0005513 detection of calcium ion", "synthesized_glycan_count": 0, "hit_score": 29.9, "record_id": "Q13586-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZC6-1", "uniprot_id": [ { "id": "CORA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZC6", "type": "external" } ], "mass": 186892.0, "length": 1860, "protein_name": "Collagen alpha-1(XXVII) chain", "gene_name": "COL27A1", "organism": "Human", "refseq_name": "collagen alpha-1(XXVII) chain preproprotein", "refseq_ac": [ { "id": "NP_116277", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116277", "type": "external" } ], "gene_names_uniprotkb": "COL27A1; KIAA1870", "gene_names_refseq": "COL27A1; STLS", "protein_names_uniprotkb": "Collagen alpha-1(XXVII) chain", "protein_names_refseq": "collagen alpha-1(XXVII) chain preproprotein; collagen alpha-1(XXVII) chain; collagen, type XXVII, alpha 1", "tax_id": 9606, "disease": "Steel syndrome (MONDO:MONDO:0014061)", "pathway": " (hsa:85301); (R-HSA-1650814); (R-HSA-2022090); (R-HSA-8874081); (R-HSA-8948216); (R-HSA-9925563)", "pathway_count": 6, "publication_count": 67, "publication_id_list": "10479448;10521801;10596943;10934207;10966814;11237011;12473679;12475640;12482924;12646579;12714037;12766169;1323838;1400327;14500733;14602708;15044469;15265795;1577494;15837520;15922909;16591531;16782899;17081983;171650;17574028;17693149;18487197;18978678;19075007;19693541;20470363;20802513;21878990;21967573;2307289;24480479;24715725;24986830;2543975;25576301;30459171;31482140;3173483;31903681;32360765;32376988;32387766;33359165;35051231;38253038;3905801;3938630;40596516;6307276;6809411;710450;7509446;8054685;8207089;9008168;9054364;9417118;9545296;9560306;9582318;9856810", "class_list": "", "function": "Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities., [RefSeq, PubMed]; First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature. Review article, [RefSeq, PubMed]; Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide., [RefSeq, PubMed]; Molecular cloning, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role during the calcification of cartilage and the transition of cartilage to bone., [UniProtKB, PubMed]; SOX9 may play an important role in the transcriptional activation of the newest collagen gene, COL27A1., [RefSeq, PubMed]; This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]., [RefSeq]; Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation., [RefSeq, PubMed]; Two loci in or near GDF5 and COL27A1 that are associated with knee pain, were identified. Erratum:[Commun Biol. 2020 Mar 26;3(1):149. doi: 10.1038/s42003-020-0880-x. PMID: 32218487] Publication Status: Online-Only, [RefSeq, PubMed]; Type XXVII collagen has unusual molecular features such as no minor helical domain, a major helical domain that is short and interrupted, and a short chain selection sequence within the NC1 domain, [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 2, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q66K43;Q96JF7", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005583 fibrillar collagen trimer;GO:0030937 collagen type XVII trimer", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q8IZC6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61923-1", "uniprot_id": [ { "id": "COPZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/P61923", "type": "external" } ], "mass": 20198.0, "length": 177, "protein_name": "Coatomer subunit zeta-1", "gene_name": "COPZ1", "organism": "Human", "refseq_name": "coatomer subunit zeta-1 isoform 2", "refseq_ac": [ { "id": "NP_001258663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258663", "type": "external" } ], "gene_names_uniprotkb": "COPZ1; CGI-120; COPZ; HSPC181", "gene_names_refseq": "CGI-120; COPZ1; COPZ; HSPC181; SCN12; zeta-COP; zeta1-COP", "protein_names_uniprotkb": "Coatomer subunit zeta-1; Zeta-1 COP; Zeta-1-coat protein", "protein_names_refseq": "COPI coat complex subunit zeta 1; coatomer protein complex subunit zeta 1; coatomer protein complex, subunit zeta; coatomer subunit zeta-1 isoform 2; coatomer subunit zeta-1; zeta-1 COP; zeta-1-coat protein", "tax_id": 9606, "disease": "neutropenia, severe congenital, 12, autosomal recessive (MONDO:MONDO:0980936)", "pathway": " (hsa:22818); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 3, "publication_count": 206, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11056392;11172815;11237011;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12388752;12634853;14504276;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17113389;17253781;17274799;17360540;17429068;17451557;17525332;17760859;17927562;17956946;18086915;18182008;18283113;18287528;18524849;18809720;1898986;18991276;19015319;19109418;19151722;19164740;19167404;19296914;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21550981;21689688;21844168;22013193;22094269;22223895;22304919;22424782;22645359;22898188;23396477;23481700;23646949;23839779;24029068;24119662;24366607;24715725;24806965;25364732;25436559;25492864;25576301;25645385;25880248;25892735;26154972;26811146;26992070;27600516;27862975;27920218;28218747;28228285;28446606;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632711;29769354;30315122;30429286;30524438;30779550;30833945;31154438;31222486;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33420375;33537174;33592498;33633747;33691108;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34229054;34509645;34561969;34932366;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36580660;36581221;37938771;38665916;39181476;39642330;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "COPZ1 regulates ferroptosis through NCOA4-mediated ferritinophagy in lung adenocarcinoma., [RefSeq, PubMed]; Component of the coatomer complex, involved in retrograde Golgi-to-ER transport (PubMed:39642330). The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins (By similarity). The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properties with the coatomer complex (By similarity)., [UniProtKB, UniProtKB, PubMed]; Loss of COPZ1 induces NCOA4 mediated autophagy and ferroptosis in glioblastoma cell lines., [RefSeq, PubMed]; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properties with the coatomer complex., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DDX8;B4DHZ0;F8VS17;F8VWL5;Q549N6;Q9Y3C3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0030133 transport vesicle;GO:0030126 COPI vesicle coat", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0006891 intra-Golgi vesicle-mediated transport;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 20.9, "record_id": "P61923-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZ76-1", "uniprot_id": [ { "id": "CNTP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZ76", "type": "external" } ], "mass": 140690.0, "length": 1288, "protein_name": "Contactin-associated protein-like 3", "gene_name": "CNTNAP3", "organism": "Human", "refseq_name": "contactin-associated protein-like 3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_387504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_387504", "type": "external" } ], "gene_names_uniprotkb": "CNTNAP3; CASPR3; KIAA1714", "gene_names_refseq": "CASPR3; CNTNAP3A; CNTNAP3", "protein_names_uniprotkb": "Contactin-associated protein-like 3; Cell recognition molecule Caspr3", "protein_names_refseq": "cell recognition molecule Caspr3; contactin associated protein like 3; contactin-associated protein-like 3 isoform 1 precursor", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal recessive intellectual developmental disorder (Disease Ontology:DOID:0060308)", "pathway": " (hsa:79937)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12093160;25424124;25883416;26992070;27862975;28413940;29393594;29557506;30833945;31150793;33239613;37217939", "class_list": "", "function": "CNTNAP3 could upregulate the expression of ATG16L1 and increase autophagy vacuoles, [RefSeq, PubMed]; CircCNTNAP3-TP53-positive feedback loop suppresses malignant progression of esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Considering that CASPR3 is involved in building the brain neural network and autophagy in circulating leukocytes, abnormal CASPR3 expression in SCZ subjects may be associated with the pathogenesis of SCZ., [RefSeq, PubMed]; Loss of 9p13.1-p12 was the novel copy number variant shared by twins with testicular germ cell tumors, confirming the involvement of CNTNAP3. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; There are 5 mutations of CNTNAP3 (G410S, P614A, R786C/H, R1219X) which were reported to be found in autism spectrum disorders patients yet, which caused 4 amino acid changed and one stop-gain de novo mutation, [RefSeq, PubMed]", "predicted_glycosites": 12, "predicted_n_glycosites": 9, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B1AMA0;Q9C0E9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0008037 cell recognition", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9BZ76-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ89-1", "uniprot_id": [ { "id": "FERY3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ89", "type": "external" } ], "mass": 63801.0, "length": 552, "protein_name": "Ferry endosomal RAB5 effector complex subunit 3", "gene_name": "FERRY3", "organism": "Human", "refseq_name": "ferry endosomal RAB5 effector complex subunit 3 isoform a", "refseq_ac": [ { "id": "NP_001291740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291740", "type": "external" } ], "gene_names_uniprotkb": "FERRY3; C12orf4", "gene_names_refseq": "C12orf4; FERRY3; Fy-3; MRT66", "protein_names_uniprotkb": "Ferry endosomal RAB5 effector complex subunit 3; Fy-3", "protein_names_refseq": "ferry endosomal RAB5 effector complex subunit 3 isoform a; protein C12orf4", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 66 (Disease Ontology:DOID:0081227)", "pathway": " (hsa:57102)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11062477;11237011;22424782;22645359;23481700;24715725;25122211;25558065;25645385;26024233;26992070;27311568;27600516;27846572;28097321;28904123;29437277;29557506;30410026;30429286;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;34171305;34211107;34357683;34405274;34509645;34561969;34932366;34967075;35051231;35580925;36010968;36215666;36284347;37267905;37938771", "class_list": "", "function": "A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion., [RefSeq, PubMed]; Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distribution of specific mRNAs most likely by mediating their endosomal transport. The complex recruits mRNAs and ribosomes to early endosomes through direct mRNA-interaction (PubMed:37267905). Plays a role in mast cell degranulation., [UniProtKB, UniProtKB, PubMed]; Mass spectrometry analysis identified protein RGD1311164 (C12orf4), with no previously described function. Our data demonstrate that RGD1311164 is a cytoplasmic protein implicated in the early signaling events following FcepsilonRI-induced cell activation Publication Status: Online-Only, [RefSeq, PubMed]; Results indicate a founder missense variant (p.Leu328Pro) in seven affected individuals from two Finnish consanguineous families and a deletion (p.Gln267fs) in one affected individual from a consanguineous Dutch family in the C12orf4 gene on chromosome 12., [RefSeq, PubMed]; This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "D3DUQ8;Q6MZH5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0032991 protein-containing complex", "go_biological_process": "GO:0043304 regulation of mast cell degranulation;GO:1904580 regulation of intracellular mRNA localization", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9NQ89-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IV36-1", "uniprot_id": [ { "id": "HID1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IV36", "type": "external" } ], "mass": 88745.0, "length": 788, "protein_name": "Protein HID1", "gene_name": "HID1", "organism": "Human", "refseq_name": "protein HID1", "refseq_ac": [ { "id": "NP_085133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085133", "type": "external" } ], "gene_names_uniprotkb": "HID1; C17orf28; DMC1", "gene_names_refseq": "17orf28; C17orf28; DEE105; DMC1; HID-1; HID1", "protein_names_uniprotkb": "Protein HID1; Down-regulated in multiple cancers 1; HID1 domain-containing protein; Protein hid-1 homolog", "protein_names_refseq": "HID1 domain-containing protein; UPF0663 transmembrane protein C17orf28; down-regulated in multiple cancers 1; downregulated in multiple cancer 1; protein HID1; protein hid-1 homolog", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 105 (Disease Ontology:DOID:0070391)", "pathway": " (hsa:283987)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;11281419;19664994;20166139;21337012;21406692;25043870;26154972;26375851;26992070;27862975;28834231;29074564;29557506;29789417;30379171;30429286;31154438;31492838;31844290;32157095;32161166;32387766;32938616;33392160;33537174;33968037;33999436;34087483;34509645;35051231;35580925;36284347;37751424;41018975", "class_list": "", "function": "Authors propose that HID-1 influences early steps in LDCV formation by controlling dense core formation at the TGN., [RefSeq, PubMed]; Mammalian HID-1 localized to the medial- and trans- Golgi apparatus as well as the cytosol., [RefSeq, PubMed]; Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism., [RefSeq, PubMed]; Plays a role in the biogenesis of large dense core vesicles (LDCVs) at the trans-Golgi network; necessary for the proper sorting of cargo into LDCVs and is required for proper regulated exocytosis (also known as regulated secretory pathway)., [UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 29, "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": "Q8N5L6;Q8TE83;Q9NT34", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q8IV36-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RG2-1", "uniprot_id": [ { "id": "PASK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RG2", "type": "external" } ], "mass": 142929.0, "length": 1323, "protein_name": "PAS domain-containing serine/threonine-protein kinase", "gene_name": "PASK", "organism": "Human", "refseq_name": "PAS domain-containing serine/threonine-protein kinase isoform 1", "refseq_ac": [ { "id": "NP_001239048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239048", "type": "external" } ], "gene_names_uniprotkb": "PASK; KIAA0135", "gene_names_refseq": "PASKIN; PASK; STK37", "protein_names_uniprotkb": "PAS domain-containing serine/threonine-protein kinase; 2.7.11.1; PAS-kinase; PASKIN; hPASK", "protein_names_refseq": "PAS domain-containing serine/threonine-protein kinase isoform 1; PAS domain-containing serine/threonine-protein kinase; per-arnt-sim (PAS) domain kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:23178)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "11237011;11459942;11688972;12377121;15148392;15302935;16275910;17052199;17344846;17595531;18669648;18767875;19189049;20068231;20943661;21181396;21418524;22065581;23186163;23301498;23853095;24366607;24715725;25418920;25576301;25645385;25880248;26811146;26992070;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;29242379;29393594;29437277;29508533;29557506;29632046;29769354;30315122;30381292;30410026;30429286;30484775;30833945;31072927;31092671;31217245;31529049;31844290;32157095;32161166;32265295;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34932366;35051231;35580925;36241641", "class_list": "", "function": "MTORC1-PASK signaling is required for the rise of myogenin-positive committed myoblasts., [RefSeq, PubMed]; Molecular cloning, gene expression, and comparison with mouse protein, [RefSeq, PubMed]; PASK is involved in the regulation of glucagon secretion by glucose and may be a useful target for the treatment of type 2 diabetes., [RefSeq, PubMed]; PASK phosphorylates and inactivates GSK3beta, thereby preventing PDX-1 serine phosphorylation and alleviating GSK3beta-mediated PDX-1 protein degradation in pancreatic beta-cells., [RefSeq, PubMed]; Results suggest that elevated glucose concentrations rapidly increase Per-Arnt-Sim kinase activity in pancreatic islet beta cells, followed by up-regulation by glucose of preproinsulin and pancreatic duodenum homeobox 1 gene expression., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in energy homeostasis and protein translation. Phosphorylates EEF1A1, GYS1, PDX1 and RPS6. Probably plays a role under changing environmental conditions (oxygen, glucose, nutrition), rather than under standard conditions. Acts as a sensor involved in energy homeostasis: regulates glycogen synthase synthesis by mediating phosphorylation of GYS1, leading to GYS1 inactivation. May be involved in glucose-stimulated insulin production in pancreas and regulation of glucagon secretion by glucose in alpha cells; however such data require additional evidences. May play a role in regulation of protein translation by phosphorylating EEF1A1, leading to increase translation efficiency. May also participate in respiratory regulation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; We provide the first evidence for a role of USF1 in respiration since it appeared to complement Cbf1 in vivo as determined by respiration phenotypes. In addition, we confirmed USF1 as a substrate of human PAS kinase (hPASK) in vitro Combined, our data supports a model in which Cbf1/USF1 functions to partition glucose toward respiration and away from lipid biogenesis Publication Status: Online-Only, [RefSeq, PubMed]; We show that the nuclear PASK associates with the mammalian H3K4 MLL2 methyltransferase complex and enhances H3K4 di- and tri-methylation. We also show that PASK is a histone kinase that phosphorylates H3 at T3, T6, S10 and T11., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "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": "G5E9F1;Q05BE4;Q68DY3;Q6GSJ5;Q86XH6;Q99763;Q9UFR7", "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_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0097009 energy homeostasis;GO:0046777 protein autophosphorylation;GO:0045727 positive regulation of translation", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q96RG2-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20340-1", "uniprot_id": [ { "id": "RAB6A_HUMAN", "url": "https://www.uniprot.org/uniprot/P20340", "type": "external" } ], "mass": 23593.0, "length": 208, "protein_name": "Ras-related protein Rab-6A", "gene_name": "RAB6A", "organism": "Human", "refseq_name": "ras-related protein Rab-6A isoform d", "refseq_ac": [ { "id": "NP_001230647", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230647", "type": "external" } ], "gene_names_uniprotkb": "RAB6A; RAB6", "gene_names_refseq": "RAB6A; RAB6", "protein_names_uniprotkb": "Ras-related protein Rab-6A; 3.6.5.2; Rab-6", "protein_names_refseq": "RAB6, member RAS oncogene family; Rab GTPase; ras-related protein Rab-6A isoform d; ras-related protein Rab-6A", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:5870); (R-HSA-1912420); (R-HSA-6798695); (R-HSA-6811436); (R-HSA-6811440); (R-HSA-8854214); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 8, "publication_count": 386, "publication_id_list": "10075724;10202141;10209123;10359595;10366590;10445031;10459009;10545110;10559959;10559986;10562278;10637310;10669757;10818110;10865125;10935626;10935637;10990452;10996854;11038176;11054569;11071909;11080672;11135303;11141079;11179213;11237011;11303027;11346801;11359012;11389151;11447212;11483508;11516400;11530204;11675392;11689439;11703925;11707585;11746448;11784320;11827983;11839770;11917121;12049766;12058051;12070132;12221131;12244319;12364329;12377769;12401177;12427552;12432908;12447383;12475894;12620188;12620189;12684051;12925777;12944476;1295745;12972505;14580338;14718928;15029241;15037235;15077113;15077114;15096524;15128430;15138286;1516130;15247254;15269279;15388334;15483056;15528189;15561770;15654769;15692570;15758030;15870108;15878329;15914536;15958533;16034420;16042553;16055087;16129887;16207721;16314391;16332443;16373702;16395330;16401880;16410077;1648736;16525024;16525121;16571673;16571679;16641372;16754960;16880209;16885419;16912714;16936697;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17451557;17488286;17488291;17562788;17574030;17646400;1764995;17658474;17671165;17678623;17684057;17698061;17827179;17901050;18044744;18076383;18094055;18195106;18199687;18243103;18256213;18319245;18354496;18367545;1845915;18466115;18477474;18532927;18559336;18578522;18585354;18641641;18664496;18701652;18779367;18804435;18946081;18997784;1900457;19109890;19141279;19164740;19345684;19403694;19490898;19603039;19620288;19635840;19656848;19701457;19725050;19729655;19745841;19753100;20008558;20068231;20095038;20116244;20154091;20159109;20159556;20170518;20197277;20305638;20308558;20363736;20386726;20404108;20420828;20434987;20592283;20643351;20685960;20797862;20851765;20937701;21041651;21097675;2115402;21173190;21183348;21187289;21216617;21273506;21330364;21383079;21411515;21421921;21436057;21445324;21458671;21532587;21554507;21586568;21683469;21689688;21706022;21718402;21776405;21807881;21822290;21951725;22013193;22065758;22072793;22130221;22171327;22219378;22223895;22335553;22354037;22365832;22433857;22511774;22562055;22581368;22595670;22613832;22622570;22648168;22653444;22694141;22705394;22717455;22762500;22795129;22854040;22908308;22983554;23019362;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23437303;23444368;23478338;23562278;23645161;23650620;23664119;23678941;23684622;23713133;23737971;23783758;23839779;24023390;24296415;24366607;24397554;24644286;24694596;24715725;24719330;24794632;24891604;24917561;24967941;2501306;25074980;25233431;25341920;25343031;25453831;25472813;25492866;25502872;25576301;25648148;25713415;25925668;25962623;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26969162;26992070;27041585;27044746;27103185;27246931;27329675;27452731;27846572;29557506;30484775;30573663;31154438;31844290;31848261;32157095;32350084;32357974;32938616;32983136;33012781;33247182;33465208;33691108;33968037;34078123;34229054;34357683;34433824;35051231;35251023;35561310;36010968;36215666;36241641;37278569;40596516;7688123;7909812;7911226;7918097;7957092;7991565;8144603;8164745;8221884;8293978;8349690;8375503;8408203;8440258;8513495;8522602;8620540;8631982;8636227;8662963;8670882;8681805;8692836;8836150;8863739;9020086;9020161;9030515;9050864;9136770;9177194;9187150;9207795;9230071;9244302;9323142;9590177;9653148;9671731;9727485;9733780", "class_list": "", "function": "RAB6A functions as a critical modulator of the stem-like subsets in cholangiocarcinoma., [RefSeq, PubMed]; Rab6 regulates recycling and retrograde trafficking of MR1 molecules. Publication Status: Online-Only, [RefSeq, PubMed]; Small GTPase RAB6 deficiency promotes alveolar progenitor cell renewal and attenuates PM2.5-induced lung injury and fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:25962623). 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:25962623). RAB6A acts as a regulator of COPI-independent retrograde transport from the Golgi apparatus towards the endoplasmic reticulum (ER) (PubMed:25962623). Has a low GTPase activity (PubMed:25962623). Recruits VPS13B to the Golgi membrane (PubMed:25492866). Plays a role in neuron projection development (Probable)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K133;B7Z772;F5H668;Q1W5D8;Q5U0A8;Q9UBE4", "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": "7.2.2.10", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.10", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.4.24.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.4.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.2", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "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": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "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:0019904 protein domain specific binding;GO:0031489 myosin V binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0031175 neuron projection development;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0042147 retrograde transport, endosome to Golgi;GO:0034067 protein localization to Golgi apparatus", "synthesized_glycan_count": 0, "hit_score": 38.9, "record_id": "P20340-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H079-1", "uniprot_id": [ { "id": "KTBL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H079", "type": "external" } ], "mass": 34767.0, "length": 304, "protein_name": "KATNB1-like protein 1", "gene_name": "KATNBL1", "organism": "Human", "refseq_name": "KATNB1-like protein 1", "refseq_ac": [ { "id": "NP_078989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078989", "type": "external" } ], "gene_names_uniprotkb": "KATNBL1; C15orf29", "gene_names_refseq": "C15orf29; KATNBL1", "protein_names_uniprotkb": "KATNB1-like protein 1; Katanin p80 subunit B-like 1", "protein_names_refseq": "KATNB1-like protein 1; katanin p80 subunit B-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79768)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;23186163;23481700;25576301;25645385;26154972;26929214;26992070;27600516;28832583;28834231;28904123;29242379;29493099;31844290;32157095;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;36010968;36241641", "class_list": "", "function": "Regulates microtubule-severing activity of KATNAL1 in a concentration-dependent manner in vitro., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 12, "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": "A8KAF6;Q2TAC0;Q9H670", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0015630 microtubule cytoskeleton;GO:0097431 mitotic spindle pole", "go_biological_process": "GO:0051495 positive regulation of cytoskeleton organization;GO:0031122 cytoplasmic microtubule organization", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9H079-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYT2-1", "uniprot_id": [ { "id": "CMTR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYT2", "type": "external" } ], "mass": 88120.0, "length": 770, "protein_name": "Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2", "gene_name": "CMTR2", "organism": "Human", "refseq_name": "cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2", "refseq_ac": [ { "id": "NP_001093112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093112", "type": "external" } ], "gene_names_uniprotkb": "CMTR2; AFT; FTSJD1", "gene_names_refseq": "AFT; CMTR2; FTSJD1; HMTr2; MTr2", "protein_names_uniprotkb": "Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2; 2.1.1.296; Cap methyltransferase 2; Cap2 2'O-ribose methyltransferase 2; FtsJ methyltransferase domain-containing protein 1; HMTr2; MTr2; Protein adrift homolog", "protein_names_refseq": "FtsJ methyltransferase domain containing 1; adrift homolog; cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2; cap2 2'O-ribose methyltransferase 2; ftsJ methyltransferase domain-containing protein 1; protein adrift homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:55783)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;21310715;23481700;24402442;24715725;25576301;26992070;27846572;27920218;28218747;28228285;28514659;28832583;28904123;29242379;29437277;29493099;29557506;29632046;29786170;29789417;30315122;30410026;30429286;30833945;31844290;31848261;32157095;32387766;32502341;32897882;32938616;32983136;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34932366;35051231;35561310;35580925;36284347", "class_list": "", "function": "A report on the validation of a human enzyme that methylates the ribose of the second transcribed nucleotide encoded by FTSJD1., [RefSeq, PubMed]; Crystal structures of the active CMTr2 catalytic domain in complex with a methyl group donor and a capped oligoribonucleotide are examined, thereby revealing the mechanism of specific recognition of capped RNA., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap2 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the second nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) (cap0) to produce m(7)GpppRmpNm (cap2). Recognizes a guanosine cap on RNA independently of its N(7) methylation status. Display cap2 methylation on both cap0 and cap1. Displays a preference for cap1 RNAs., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 13, "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": "B2RCD5;D3DWS1;Q8NE77;Q8NFR5;Q9H8Z4;Q9NUS3;Q9NXF5", "ec_number_list": [ { "id": "2.1.1.296", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.296", "type": "external" } ], "go_molecular_function": "GO:0004483 methyltransferase cap1 activity;GO:0120550 methyltransferase cap2 activity;GO:0008173 RNA methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0032259 methylation;GO:0006370 7-methylguanosine mRNA capping", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q8IYT2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H741-1", "uniprot_id": [ { "id": "SPRNG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H741", "type": "external" } ], "mass": 23594.0, "length": 205, "protein_name": "SREBP regulating gene protein", "gene_name": "SPRING1", "organism": "Human", "refseq_name": "SREBP regulating gene protein isoform 1", "refseq_ac": [ { "id": "NP_079014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079014", "type": "external" } ], "gene_names_uniprotkb": "SPRING1; C12orf49; SPRING", "gene_names_refseq": "C12orf49; LUR1; POST1; SPRING1; SPRING", "protein_names_uniprotkb": "SREBP regulating gene protein; SREBF pathway regulator in Golgi 1", "protein_names_refseq": "SREBP regulating gene protein isoform 1; SREBP regulating gene protein; UPF0454 protein C12orf49; partner of site-1 protease", "tax_id": 9606, "disease": "", "pathway": " (hsa:79794)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;23090970;23584533;24190977;32111832;32157095;32350084;32666500;32694731;32694732;35251023;36348128", "class_list": "", "function": "Chromosome 12 Open Reading Frame 49 Promotes Tumor Growth and Predicts Poor Prognosis in Colorectal Cancer. Erratum:[Dig Dis Sci. 2025 Apr;70(4):1587. doi: 10.1007/s10620-025-08901-7. PMID: 40057665], [RefSeq, PubMed]; Metabolic coessentiality mapping identifies C12orf49 as a regulator of SREBP processing and cholesterol metabolism., [RefSeq, PubMed]; POST1/C12ORF49 regulates the SREBP pathway by promoting site-1 protease maturation., [RefSeq, PubMed]; Positively regulates hepatic SREBP signaling pathway by modulating the proper localization of SCAP (SREBP cleavage-activating protein) to the endoplasmic reticulum, thereby controlling the level of functional SCAP., [UniProtKB, PubMed]; Sterol-regulatory element binding proteins (SREBP) regulating gene (SPRING/C12ORF49) is a glycosylated Golgi membrane protein and its ablation reduces SREBP signaling. Attenuated SREBP signaling in SPRING(KO) cells results from reduced SREBP cleavage-activating protein (SCAP) and its mislocalization to Golgi irrespective of cellular sterol status. A wide range of tumor cell lines display dependency on SPRING expression. Publication Status: Online-Only, [RefSeq, PubMed]; Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "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": 6, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 19, "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": "Q53GE8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:2000640 positive regulation of SREBP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9H741-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N815-1", "uniprot_id": [ { "id": "CNTD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N815", "type": "external" } ], "mass": 36921.0, "length": 330, "protein_name": "Cyclin N-terminal domain-containing protein 1", "gene_name": "CNTD1", "organism": "Human", "refseq_name": "cyclin N-terminal domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001317151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317151", "type": "external" } ], "gene_names_uniprotkb": "CNTD1; CNTD", "gene_names_refseq": "CNTD1; CNTD; COSA1", "protein_names_uniprotkb": "Cyclin N-terminal domain-containing protein 1", "protein_names_refseq": "cyclin N-terminal domain-containing protein 1 isoform 2; cyclin N-terminal domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:124817)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;30379171;34509645", "class_list": "", "function": "Plays a role in the different steps of crossover formation during meiotic recombination. Participates in the crossover differentiation step of crossover-specific recombination intermediates through its interaction with PRR19. In addition, stimulates crossover formation through the interactions with RFC3 and RFC4 and simultaneously regulates cell-cycle progression through interactions with CDC34 and subsequent ubiquitination of WEE1. May also participates in an active deselection process that destabilizes or removes excess pre-CO intermediates., [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": "Q658Q6;Q8NEP1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0035861 site of double-strand break;GO:0005694 chromosome", "go_biological_process": "GO:0051445 regulation of meiotic cell cycle;GO:0007131 reciprocal meiotic recombination", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N815-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75323-1", "uniprot_id": [ { "id": "NIPS2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75323", "type": "external" } ], "mass": 33743.0, "length": 286, "protein_name": "Protein NipSnap homolog 2", "gene_name": "NIPSNAP2", "organism": "Human", "refseq_name": "protein NipSnap homolog 2 isoform 2", "refseq_ac": [ { "id": "NP_001189398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398", "type": "external" } ], "gene_names_uniprotkb": "NIPSNAP2; GBAS", "gene_names_refseq": "GBAS; NIPSNAP2", "protein_names_uniprotkb": "Protein NipSnap homolog 2; Glioblastoma-amplified sequence; NipSnap2", "protein_names_refseq": "4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 2; glioblastoma amplified sequence; protein NipSnap homolog 2 isoform 2; protein NipSnap homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:2631); (R-HSA-9013407); (R-HSA-9013409)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10967094;11237011;11368848;11809807;12456725;15304341;15710388;17028588;17064668;20184954;20851766;20888800;22971344;23029280;23255595;23481700;25645385;25892735;26299518;26387735;27481945;27726376;28011268;28218747;28228285;28510447;28832583;29242379;29437277;29510700;29557506;29632711;29769354;29806744;30315122;30982665;31611695;31844290;31871319;32161166;32302585;32938616;33592498;33936100;34036378;34078123;34357683;34509645;35154160;36010968;36215666;36241641;36581221;37217939;37938771;38665916;9615231;9661659", "class_list": "", "function": "CHCHD10 and GBAS are involved in oxidative phosphorylation., [RefSeq, PubMed]; Knockdown of GBAS regulates esophageal cancer cell viability and apoptosis., [RefSeq, PubMed]; NIP-SNAP-1 and -2 localized in the mitochondrial inner membrane space, whereas HSP60 localized in the matrix. Expression levels of NIP-SNAP-1 and -2 in cells were decreased by knockdown of HSP60, but not HSP10. The findings indicate that HSP60 promotes folding and maintains the stability of NIP-SNAP-1 and -2., [RefSeq, PubMed]; NIPSNAP1 and NIPSNAP2 have a redundant function in mitophagy and are predominantly expressed in different tissues., [RefSeq, PubMed]; Protein involved in mitophagy by facilitating recruitment of the autophagy machinery required for clearance of damaged mitochondria (PubMed:30982665). Accumulates on the mitochondria surface in response to mitochondrial depolarization and acts as a 'eat me' signal by recruiting proteins involved in selective autophagy, such as autophagy receptors (CALCOCO2/NDP52, NBR1, SQSTM1/p62, TAX1BP1 and WDFY3/ALFY) and ATG8 family proteins (MAP1LC3A, MAP1LC3B, MAP1LC3C, GABARAP, GABARAPL1 and GABARAPL2) (PubMed:30982665)., [UniProtKB, PubMed]; Results show that the rs9642391C>G variant, which is located in the intron region of EGFR, is associated with GBAS expression and survival outcomes in surgically resected early-stage non-small cell lung cancer patients., [RefSeq, PubMed]; This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms 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": 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": "C9IYJ3;O43801;Q53X96", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0007005 mitochondrion organization;GO:0000423 mitophagy;GO:1901843 positive regulation of high voltage-gated calcium channel activity", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "O75323-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H175-1", "uniprot_id": [ { "id": "CSRN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H175", "type": "external" } ], "mass": 59591.0, "length": 543, "protein_name": "Cysteine/serine-rich nuclear protein 2", "gene_name": "CSRNP2", "organism": "Human", "refseq_name": "cysteine/serine-rich nuclear protein 2", "refseq_ac": [ { "id": "NP_110436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110436", "type": "external" } ], "gene_names_uniprotkb": "CSRNP2; C12orf22; FAM130A1; TAIP12", "gene_names_refseq": "C12ORF2; C12orf22; CSRNP2; FAM130A1; PPP1R72; TAIP-12", "protein_names_uniprotkb": "Cysteine/serine-rich nuclear protein 2; CSRNP-2; Protein FAM130A1; TAIP-12; TGF-beta-induced apoptosis protein 12", "protein_names_refseq": "CSRNP-2; TGF-beta-induced apoptosis protein 12; cysteine/serine-rich nuclear protein 2; family with sequence similarity 130, member A1; protein phosphatase 1, regulatory subunit 72", "tax_id": 9606, "disease": "", "pathway": " (hsa:81566)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;20800603;23481700;24366607;24715725;25418920;25576301;26154972;26992070;28832583;28834231;29242379;29351928;29393594;29557506;30315122;31844290;31848261;32157095;32161166;32387766;32938616;32983136;33592498;33912179;33968037;35051231;35580925;36010968;36284347", "class_list": "", "function": "Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity (By similarity). May play a role in apoptosis., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9H175-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13073-1", "uniprot_id": [ { "id": "COX41_HUMAN", "url": "https://www.uniprot.org/uniprot/P13073", "type": "external" } ], "mass": 19577.0, "length": 169, "protein_name": "Cytochrome c oxidase subunit 4 isoform 1, mitochondrial", "gene_name": "COX4I1", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_001305715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305715", "type": "external" } ], "gene_names_uniprotkb": "COX4I1; COX4", "gene_names_refseq": "COX IV-1; COX4-1; COX4I1; COX4; COXIV-1; COXIV; MC4DN16", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 4 isoform 1, mitochondrial; COX IV-1; Cytochrome c oxidase polypeptide IV; Cytochrome c oxidase subunit IV isoform 1", "protein_names_refseq": "cytochrome c oxidase polypeptide IV; cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 1 precursor; cytochrome c oxidase subunit IV", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 16 (Disease Ontology:DOID:0070501); protein-energy malnutrition (Disease Ontology:DOID:11801)", "pathway": " (hsa:1327); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9837999); (R-HSA-9864848)", "pathway_count": 6, "publication_count": 257, "publication_id_list": "10327278;10329961;10337626;10716435;10745013;10980602;11029283;11034341;11237011;11340051;11486029;11545734;11695836;11923310;11959846;12161445;12198491;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1311608;1327877;13298683;13538944;14623864;14651849;14741580;15105503;15223;15250827;15522782;15589136;15870080;16115876;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17101804;17264172;17297443;17298220;17486094;17540029;17579211;18198340;18344994;186667;18692468;19113821;19439913;19487573;19503089;19608861;19690164;19822145;19841671;19968714;20068231;20080666;20182617;20351271;20378837;20929863;2157630;21750704;21958598;21993680;22262461;22342701;22363791;22427940;22710082;22869377;23125284;23150584;23201127;23260140;23270816;23345593;23481700;23564345;23746447;23747254;23775793;23931759;239860;24066844;24315374;24366874;24383451;24403053;2444497;24520911;24714562;24715725;24718924;25418920;25469497;25564869;25576301;25579166;25645385;25802875;25810538;25880248;25892735;25926683;25959673;26154972;26321642;26375851;26504172;26652033;26759378;26768311;26811146;26923599;26929215;26992070;27397612;27452731;27496948;27600516;27642048;27693358;27846572;27893789;27920218;28063628;28082314;28199844;28218747;28228285;28330871;28377575;28396416;28698372;28766551;28832583;28834231;28844695;28904123;29154948;29242379;29301859;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29932645;30030519;30120231;30315122;30410026;30429286;30444036;30779550;30833945;31020640;31092671;31154438;31217245;31222486;31290619;31327635;31530632;31536960;31611695;31695197;31844290;31848261;31998317;32157095;32161166;32265295;32317297;32350084;32357974;32375044;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33141586;33257573;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;3427020;34357683;34405274;34704252;3475708;34932366;34943861;34969438;35051231;35154160;35251023;35318648;35456968;35580925;35750769;35870450;36010968;36215666;36241641;36284347;36581221;36629048;37938771;38149324;38665916;38718733;4288886;5666113;6094553;7623837;7979252;7989588;8119488;9843204;9878551;9926927", "class_list": "", "function": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]., [RefSeq]; Cytochrome c oxidase IV isoform 1 (COX4-1) regulates the proliferation, migration and invasion of trophoblast cells via modulating mitochondrial function., [RefSeq, PubMed]; Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; The ratio of cytochrome c oxidase subunit 4 isoform 4I1 and 4I2 mRNA is changed in permanent atrial fibrillation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4J2;D3DUM7;Q6P666", "ec_number_list": [], "go_molecular_function": "GO:0004129 cytochrome-c oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0007584 response to nutrient;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 26.0, "record_id": "P13073-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0S2-1", "uniprot_id": [ { "id": "COX16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0S2", "type": "external" } ], "mass": 12293.0, "length": 106, "protein_name": "Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial", "gene_name": "COX16", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly protein COX16 homolog, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_057552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057552", "type": "external" } ], "gene_names_uniprotkb": "COX16; C14orf112; HSPC203; PTD019", "gene_names_refseq": "C14orf112; COX16; HSPC203; MC4DN22; hCOX16", "protein_names_uniprotkb": "Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial; hCOX16", "protein_names_refseq": "COX16, cytochrome c oxidase assembly homolog; cytochrome c oxidase assembly protein COX16 homolog, mitochondrial isoform 1 precursor; cytochrome c oxidase assembly protein COX16 homolog, mitochondrial", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 22 (Disease Ontology:DOID:0070507)", "pathway": " (hsa:51241); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11237011;12446688;15596615;19503089;22342701;23125284;23260140;23345593;23746447;24403053;25892735;25926683;25959673;26321642;26992070;27693358;28082314;28199844;28330871;28467828;29154948;29355485;29381136;29493099;29769354;31536960;32317297;32350084;32375044;33169484;33392160;34357683;34969438;35251023;35750769;37938771;9843204", "class_list": "", "function": "COX16 is required for assembly of cytochrome C oxidase in human cells and is involved in copper delivery to COX2., [RefSeq, PubMed]; Here, the authors find that COX16, a protein required for cytochrome c oxidase assembly, interacts specifically with newly synthesized COX2 and its copper center-forming metallochaperones SCO1, SCO2, and COA6. The recruitment of SCO1 to the COX2-module is COX16- dependent and patient-mimicking mutations in SCO1 affect interaction with COX16. Publication Status: Online-Only, [RefSeq, PubMed]; Required for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:29355485, PubMed:29381136, PubMed:33169484). Promotes the insertion of copper into the active site of cytochrome c oxidase subunit II (MT-CO2/COX2) (PubMed:29355485, PubMed:29381136). Interacts specifically with newly synthesized MT-CO2/COX and its copper center-forming metallochaperones SCO1, SCO2 and COA6 (PubMed:29381136). Probably facilitates MT-CO2/COX2 association with the MITRAC assembly intermediate containing MT-CO1/COX1, thereby participating in merging the MT-CO1/COX1 and MT-CO2/COX2 assembly lines (PubMed:29381136)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "A6NDT5;A8K3X8;B8XYC5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9P0S2-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15954-1", "uniprot_id": [ { "id": "COX7C_HUMAN", "url": "https://www.uniprot.org/uniprot/P15954", "type": "external" } ], "mass": 7246.0, "length": 63, "protein_name": "Cytochrome c oxidase subunit 7C, mitochondrial", "gene_name": "COX7C", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 7C, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001858", "type": "external" } ], "gene_names_uniprotkb": "COX7C", "gene_names_refseq": "COX7C", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 7C, mitochondrial; Cytochrome c oxidase polypeptide VIIc", "protein_names_refseq": "cytochrome c oxidase polypeptide VIIc; cytochrome c oxidase subunit 7C, mitochondrial precursor; cytochrome c oxidase subunit 7C, mitochondrial; cytochrome c oxidase subunit VIIc; cytochrome-c oxidase chain VIIc", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:1350); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 197, "publication_id_list": "10072584;10327278;10329961;10716435;10745013;10980602;11029283;11034341;11237011;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1309697;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;18198340;18344994;186667;18692468;18991276;19113821;19439913;19487573;19503089;19690164;19822145;19968714;20080666;20182617;20351271;20378837;20929863;20934997;2155413;21654843;21750704;21958598;22342701;22363791;22427940;22544926;23125284;23150584;23260140;23270816;23345593;23564345;23739916;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24718924;25469497;25502872;25564869;25576301;25579166;25645385;25892735;25926683;25959673;26154972;26321642;26652033;26811146;26992070;27600516;27693358;27726376;27846572;27862975;27893789;28082314;28199844;28228285;28330871;28467828;28649982;28698372;28832583;28834231;28844695;28855257;28904123;29154948;29242379;29331515;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30030519;30192525;30315122;30429286;30484775;30524438;30833945;31092671;31154438;31217245;31222486;31536960;31611695;31844290;31848261;32157095;32161166;32265295;32317297;32350084;32357974;32375044;32387766;32488085;32653968;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34078123;34171305;3427020;34357683;34433824;34509645;34561969;3475708;34932366;34969438;35051231;35251023;35318648;35580925;35750769;36010968;36215666;36241641;36284347;37938771;4288886;5666113;6094553;7979252;7989588;8119488;9843204;9878551;9926927", "class_list": "", "function": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008]., [RefSeq]; The expression level of COX7C associates with venous thromboembolism in colon cancer patients., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q6NR81", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 19.8, "record_id": "P15954-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4D1-1", "uniprot_id": [ { "id": "DAAM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4D1", "type": "external" } ], "mass": 123473.0, "length": 1078, "protein_name": "Disheveled-associated activator of morphogenesis 1", "gene_name": "DAAM1", "organism": "Human", "refseq_name": "disheveled-associated activator of morphogenesis 1 isoform 2", "refseq_ac": [ { "id": "NP_001257449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257449", "type": "external" } ], "gene_names_uniprotkb": "DAAM1; KIAA0666", "gene_names_refseq": "DAAM1", "protein_names_uniprotkb": "Disheveled-associated activator of morphogenesis 1", "protein_names_refseq": "disheveled-associated activator of morphogenesis 1 isoform 2", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036)", "pathway": " (hsa:23002); (R-HSA-4086400); (R-HSA-5663220); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148)", "pathway_count": 7, "publication_count": 413, "publication_id_list": "10037681;10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10600384;10619026;10678165;10698942;10699171;10699464;10724160;10862746;10873388;10873802;10958683;11007481;11058585;11085924;11101902;11149925;11207612;11237011;11306516;11358862;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11751577;11756552;11773441;11779461;11804587;11804589;11804590;11884391;11912491;11948177;12015986;12071859;12093360;12096337;12134165;12172552;12195014;12221077;12221096;12351724;12429848;12432077;12464619;12473120;12531887;12533515;12547822;12577064;12650940;12732141;12773384;12805219;12839624;12857875;12860998;12877655;12907671;14506234;14512443;14636582;15006353;15023524;15064355;15085137;15107133;15133129;15143170;15147912;15157669;15169958;15260990;15302923;15304341;15342493;15485661;15501440;15507212;15601624;15608632;15611138;15728722;15850391;15864301;15866170;15897194;15936275;15944396;16112081;16116428;16116452;16184169;16217026;16280981;16292343;16439214;16467373;16495441;16519628;16602827;16622419;16622420;16630611;16714282;16723543;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16943183;16968698;16971168;17021034;17030981;17064668;17077126;17081983;17129783;17130287;17145773;17196961;17198702;17214551;17244649;1737036;17373907;17433286;17482208;17562871;17599059;17627283;17702745;17765681;17804252;17932950;17942708;17976533;18001770;18045877;18056264;18097444;18158243;18160138;18162551;18215320;18218625;18256687;18363964;18426980;18653540;18719708;18786931;18798527;18802007;18829452;18835169;18838382;18923426;18929667;19350017;19365405;19494238;19523939;19530173;19589360;19605563;19635168;19673492;19713215;19815554;19934221;20004982;20006983;20030946;20101212;20400958;20591975;20628200;20660154;20679435;20803696;20940229;21148482;21316585;21351730;21373644;21397845;21454492;21542010;21565175;21576392;21613211;21685891;21699497;21757538;21865595;21868368;21936715;21989057;22004470;22094460;22096251;22275430;22298643;22305756;22461490;22571869;22608513;22673745;22773843;22790947;22911862;22970203;22992742;23109420;23140633;23144463;23186163;23200924;23222643;23255595;23396967;23406282;23434736;23572525;23718289;23801653;23821037;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24584464;24914801;24933155;24996924;25024229;25211221;25425145;25502872;25645385;25673874;25704760;25721503;25795300;25862245;25892735;25963737;26129894;26154972;26299518;26371245;26529257;26598554;26644512;26887924;26992070;27096001;27145964;27216196;27481945;27555588;27600516;27798618;27846572;27862975;27920218;27986909;28028151;28112683;28196833;28228285;28284839;28514659;28584191;28825699;28832583;28834231;28860633;28904123;29146911;29242379;29317506;29331515;29393594;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30061681;30315122;30429286;30626607;30779550;30833945;30853411;31092671;31105010;31154438;31217245;31530632;31844290;31848261;31871319;32157095;32161166;32203420;32265295;32350084;32488085;32502341;32897882;32938616;32983136;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34360857;34433824;34561969;34932366;35051231;35251023;35289036;35494241;35561310;35580925;36215666;36241641;36284347;37562219;37938771;38945423;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8994827;9013646;9111050;9113980;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9649308;9659915;9670022;9674432;9716412;9792683;9822605;9829970;9843499;9846874", "class_list": "", "function": "Binds to disheveled (Dvl) and Rho, and mediates Wnt-induced Dvl-Rho complex formation. May play a role as a scaffolding protein to recruit Rho-GDP and Rho-GEF, thereby enhancing Rho-GTP formation. Can direct nucleation and elongation of new actin filaments. Involved in building functional cilia (PubMed:16630611, PubMed:17482208). Involved in the organization of the subapical actin network in multiciliated epithelial cells (By similarity). Together with DAAM2, required for myocardial maturation and sarcomere assembly (By similarity). During cell division, may regulate RHOA activation that signals spindle orientation and chromosomal segregation., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012]., [RefSeq]; DAAM1 was shown to bind to the SH3 domain of CIP4 in vivo., [RefSeq, PubMed]; Formin Binding Protein 1 (FNBP1) regulates non-canonical Wnt signaling and vertebrate gastrulation., [RefSeq, PubMed]; Preliminary Investigation on the Involvement of Cytoskeleton-Related Proteins, DAAM1 and PREP, in Human Testicular Disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Results report that Profilin1 is an effector downstream of Daam1 required for cytoskeletal changes during gastrulation., [RefSeq, PubMed]; The DAAM1 FH2 domain structure, determined at 2.25 A resolution, and DAAM1 actin binding activity, [RefSeq, PubMed]; The formin DAAM1 regulates the deubiquitinase activity of USP10 and integrin homeostasis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 1, "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": "Q86U34;Q8N1Z8;Q8TB39", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0016020 membrane;GO:0031514 motile cilium;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0060071 Wnt signaling pathway, planar cell polarity pathway;GO:0099140 presynaptic actin cytoskeleton organization;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 41.7, "record_id": "Q9Y4D1-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRQ5-1", "uniprot_id": [ { "id": "ORAI3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRQ5", "type": "external" } ], "mass": 31499.0, "length": 295, "protein_name": "Protein orai-3", "gene_name": "ORAI3", "organism": "Human", "refseq_name": "protein orai-3", "refseq_ac": [ { "id": "NP_689501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689501", "type": "external" } ], "gene_names_uniprotkb": "ORAI3; TMEM142C", "gene_names_refseq": "ORAI3; TMEM142C", "protein_names_uniprotkb": "Protein orai-3; Transmembrane protein 142C", "protein_names_refseq": "protein orai-3; transmembrane protein 142C", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:93129)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "10.1038/emboj.2013.79;11237011;16582901;16807233;17442569;17452328;17991693;18403424;18491316;19182790;19622606;19706554;20354224;20418871;23481700;23584533;25645385;26992070;27600516;27920218;28228285;28832583;29242379;29557506;30315122;30429286;30459171;30524438;30779550;31154438;31844290;31848261;31937595;31998317;32157095;32350084;32387766;32415068;32488085;32502341;32897882;32938616;33141586;33392160;33968037;34087483;34185709;34405274;34626722;34768857;34943998;35051231;35251023;36010968;36241641;36581221;37759448;37938771;39135143", "class_list": "", "function": "Expression of a dominant-negative mutant Orai3, either alone or in cells expressing wild-type Orai1, profoundly and specifically reduces currents through the ARC channels without affecting those through the CRAC channels., [RefSeq, PubMed]; High ORAI3 expression correlates with good prognosis in human muscle-invasive bladder cancer., [RefSeq, PubMed]; Orai1 and Orai3 act through distinct signalling axes to promote stemness and tumorigenicity of breast cancer stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Orai3 Calcium Channel Contributes to Oral/Oropharyngeal Cancer Stemness through the Elevation of ID1 Expression. Publication Status: Online-Only, [RefSeq, PubMed]; Orai3 Calcium Channel Regulates Breast Cancer Cell Migration through Calcium-Dependent and -Independent Mechanisms. Publication Status: Online-Only, [RefSeq, PubMed]; Pore-forming subunit of two major inward rectifying Ca(2+) channels at the plasma membrane: Ca(2+) release-activated Ca(2+) (CRAC) channels and arachidonate-regulated Ca(2+)-selective (ARC) channels (PubMed:16807233, PubMed:17442569, PubMed:19182790, PubMed:19622606, PubMed:19706554, PubMed:20354224, PubMed:32415068). Assembles with ORAI1 and ORAI2 to form hexameric CRAC channels that mediate Ca(2+) influx upon depletion of endoplasmic reticulum Ca(2+) store and channel activation by Ca(2+) sensor STIM1, a process known as store-operated Ca(2+) entry (SOCE). Various pore subunit combinations may account for distinct CRAC channel spatiotemporal and cell-type specific dynamics. ORAI1 mainly contributes to the generation of Ca(2+) plateaus involved in sustained Ca(2+) entry and is dispensable for cytosolic Ca(2+) oscillations, whereas ORAI2 and ORAI3 generate oscillatory patterns. CRAC channels assemble in Ca(2+) signaling microdomains where Ca(2+) influx is coupled to calmodulin and calcineurin signaling and activation of NFAT transcription factors recruited to ORAI1 via AKAP5. CRAC channels are the main pathway for Ca(2+) influx in T cells and promote the immune response to pathogens by activating NFAT-dependent cytokine and chemokine transcription (PubMed:16807233, PubMed:17442569, PubMed:19182790, PubMed:19706554, PubMed:20354224, PubMed:32415068). Assembles with ORAI1 to form channels that mediate store-independent Ca(2+) influx in response to inflammatory metabolites arachidonate or its derivative leukotriene C4, termed ARC and LRC channels respectively (PubMed:19622606, PubMed:32415068)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Results suggest that Orai1, -2, and -3 channels are similarly inhibited by extracellular calcium, indicating similar affinities for Ca(2+) within the selectivity filter., [RefSeq, PubMed]; Role of Orai3 in the Pathophysiology of Cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The effects of 2-aminoethoxydiphenyl borate on orai1, orai2, orai3 metabolism in HEK293 cells with and without STIM1 are reported., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 3, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q96BI8", "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:0015279 store-operated calcium channel activity;GO:0005262 calcium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002115 store-operated calcium entry", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9BRQ5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CG8-1", "uniprot_id": [ { "id": "CTHR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CG8", "type": "external" } ], "mass": 26224.0, "length": 243, "protein_name": "Collagen triple helix repeat-containing protein 1", "gene_name": "CTHRC1", "organism": "Human", "refseq_name": "collagen triple helix repeat-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001243028", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243028", "type": "external" } ], "gene_names_uniprotkb": "CTHRC1; PRO1550", "gene_names_refseq": "CTHRC1", "protein_names_uniprotkb": "Collagen triple helix repeat-containing protein 1", "protein_names_refseq": "collagen triple helix repeat-containing protein 1 isoform 2; collagen triple helix repeat-containing protein 1", "tax_id": 9606, "disease": "Barrett's esophagus (Disease Ontology:DOID:9206)", "pathway": " (hsa:115908)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;12975309;15340161;15618538;16778098;18467647;21791690;22590977;25645385;27600516;29242379;29786170;30429286;31844290;31848261;32157095;32488085;32938616;36924985;37109608;37205792;37987774;38040222;38665916", "class_list": "", "function": "Aberrant expression of CTHRC1 is widely present in human solid cancers and seems to be associated with cancer tissue invasion and metastasis., [RefSeq, PubMed]; Activated CTHRC1 promotes glycolysis in endothelial cells: Implications for metabolism and angiogenesis., [RefSeq, PubMed]; Activation of CTHRC1 by HOXB9 Promotes Angiogenesis through Fatty Acid Metabolism in Lung Adenocarcinoma., [RefSeq, PubMed]; CTHRC1 is transiently expressed in the arterial wall in response to injury where it may contribute to vascular remodeling by limiting collagen matrix deposition and promoting cell migration., [RefSeq, PubMed]; CTHRC1 promotes colorectal cancer progression by recruiting tumor-associated macrophages via up-regulation of CCL15., [RefSeq, PubMed]; Data indicate that the upregulated expression of collagen triple helix repeat containing 1 (CTHRC1) in gastric carcinogenesis contributes to tumor cell invasion and metastasis., [RefSeq, PubMed]; Elevated Levels of Plasma Collagen Triple Helix Repeat Containing 1 (CTHRC1) Are Strongly Associated with eGFR and Albuminuria in Chronic Kidney Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Intracellular localization of Cthrc1 characterizes differentiated smooth muscle., [RefSeq, PubMed]; May act as a negative regulator of collagen matrix deposition., [UniProtKB]; Sox2ot /miR-9 /Cthrc1 Promote Proliferation and Migration of Schwann Cells Following Nerve Injury., [RefSeq, PubMed]; This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]., [RefSeq]; Three major genes, MSR1, ASCC1, and CTHRC1 were associated with Barrett esophagus/esophageal adenocarcinoma, [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "G3V141;Q6UW91;Q8IX63", "ec_number_list": [], "go_molecular_function": "GO:0004666 prostaglandin-endoperoxide synthase activity;GO:0005109 frizzled binding;GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0031012 extracellular matrix;GO:0043005 neuron projection", "go_biological_process": "GO:0019371 cyclooxygenase pathway", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96CG8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96C57-1", "uniprot_id": [ { "id": "CSTOS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96C57", "type": "external" } ], "mass": 28171.0, "length": 262, "protein_name": "Protein CUSTOS", "gene_name": "C12orf43; CUSTOS", "organism": "Human", "refseq_name": "protein CUSTOS isoform a", "refseq_ac": [ { "id": "NP_001273120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273120", "type": "external" } ], "gene_names_uniprotkb": "C12orf43; CUSTOS; C12orf43", "gene_names_refseq": "C12orf43; Custos", "protein_names_uniprotkb": "Protein CUSTOS", "protein_names_refseq": "protein CUSTOS isoform a; protein CUSTOS; uncharacterized protein C12orf43", "tax_id": 9606, "disease": "", "pathway": " (hsa:64897)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10.1021/acs.analchem.6b02887;11237011;17081983;18452278;18669648;19413330;20068231;23186163;23301498;24715725;27263109;28035807;29557506;30315122;31154438;31373491;31844290;31848261;31937595;32502341;33298915;34087483;34171305;35051231;35580925;36241641;38430045", "class_list": "", "function": "Association of a single-nucleotide polymorphism in C12orf43 region with the risk of coronary artery disease. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the regulation of Wnt signaling pathway during early development., [UniProtKB, UniProtKB]; Study provides evidence that C12orf43/rs2258287 was associated with the risk of coronary artery disease in the studied Pakistani cohort., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q53HF0;Q9H9Z7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005730 nucleolus", "go_biological_process": "GO:0016055 Wnt signaling pathway;GO:0030178 negative regulation of Wnt signaling pathway;GO:0060061 Spemann organizer formation", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q96C57-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02679-1", "uniprot_id": [ { "id": "FIBG_HUMAN", "url": "https://www.uniprot.org/uniprot/P02679", "type": "external" } ], "mass": 51512.0, "length": 453, "protein_name": "Fibrinogen gamma chain", "gene_name": "FGG", "organism": "Human", "refseq_name": "fibrinogen gamma chain isoform gamma-A precursor", "refseq_ac": [ { "id": "NP_000500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000500", "type": "external" } ], "gene_names_uniprotkb": "FGG; PRO2061", "gene_names_refseq": "FGG", "protein_names_uniprotkb": "Fibrinogen gamma chain", "protein_names_refseq": "fibrinogen gamma chain isoform gamma-A precursor; fibrinogen, gamma polypeptide; testicular tissue protein Li 70", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); infantile parkinsonism-dystonia 2 (Disease Ontology:DOID:0070490); brain small vessel disease (Disease Ontology:DOID:0112313); Parkinson's disease (Disease Ontology:DOID:14330); Machado-Joseph disease (Disease Ontology:DOID:1440); anxiety disorder (Disease Ontology:DOID:2030); congenital afibrinogenemia (Disease Ontology:DOID:2236); substance-related disorder (Disease Ontology:DOID:303); toxic encephalopathy (Disease Ontology:DOID:3602); pancreatitis (Disease Ontology:DOID:4989); myocardial infarction (Disease Ontology:DOID:5844); amphetamine abuse (Disease Ontology:DOID:670); cocaine abuse (Disease Ontology:DOID:809); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary embolism (Disease Ontology:DOID:9477); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); familial dysfibrinogenemia (MONDO:MONDO:0014452)", "pathway": " (hsa:2266); (R-HSA-114608); (R-HSA-1236974); (R-HSA-166058); (R-HSA-216083); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-381426); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5674135); (R-HSA-5686938); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-8957275); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9769733); (R-HSA-9936686)", "pathway_count": 22, "publication_count": 449, "publication_id_list": "37268159;10026136;10074346;10077652;10209034;10209122;10218588;10366422;10391209;10409742;10438935;10446041;10465784;10512690;10543983;10593924;10605720;10614670;10640428;10673366;10681634;10713152;10725339;10777559;10810289;10811134;10891492;10896934;10898936;10912521;10951195;10964917;10982388;10990447;11158056;11158588;11237011;11250653;11264294;11307817;11316783;11325826;11435303;11476890;11509636;11518510;11522292;11544529;11572855;11606061;11713259;11724772;11739083;11751371;11788658;11802164;11802165;11940607;11960013;11980922;11986213;12005431;12068308;12110890;12138165;12140561;12214235;12241545;12297423;12379487;12447441;12447442;12466191;12473660;12479806;12496264;12585966;12637671;12640026;12682293;12724322;12807887;12810533;12817025;12832465;12904166;1370451;1383255;1421174;1435334;1455400;14625308;14630798;14636584;14754902;14760718;14970219;15035987;15118098;15126567;15157149;15239952;15240572;15260967;15297306;15308688;15330449;15334074;15345499;15383545;15469690;15469846;15485880;15520807;15525596;15543157;15547943;15585605;15630448;15632207;15642270;15713743;1588291;15899827;15944945;16002701;16005629;16024789;16040750;16051604;16076873;16115959;16135787;16213021;16239428;16263699;16335952;16364920;16439361;16508002;16581250;16702958;16731529;16751103;16754661;16754682;16757337;16834340;1685103;16855214;16878026;16879721;16919435;16933105;17018604;17047378;17141195;17145850;17178906;17218263;1722201;17249697;17312271;17339034;1733971;17485511;17496912;17563371;17603482;17603483;17624957;17726518;17767165;17878161;17878374;17890055;17893200;17968485;17985932;18070880;18070982;18287029;18354232;18434644;18438411;18559343;18559533;18562239;18669862;18692471;18710925;18775695;18780401;18829464;1892842;18974108;18990700;19091303;19112167;19139490;19159218;19217269;19219045;19224918;19242111;19279408;19296670;19467855;19498957;19502598;19506249;19509286;19592493;19592497;19933846;20033473;20037584;20052757;2010551;20130576;20141835;20179705;20473308;20485341;20526349;20705068;2071611;20818844;20858867;20966070;21081667;21107323;21424530;2143188;21514245;21606490;21639808;21779496;21784453;21871094;21993244;22043453;22113612;22153078;22177953;22292133;22344226;22356324;22395615;22454496;22489132;22510884;22539938;22569528;2257302;22589270;22661428;22745804;22826437;22884367;23090970;23171796;2328317;23288408;23352452;23374253;23446148;23453624;23583981;23613522;23614898;23640497;23667175;23680146;23875798;23934108;24121058;24135138;24202393;24316379;24345920;24651010;24746704;2476804;2478231;2479552;24833748;24840642;24937142;24957944;2496144;25083866;25195011;25204415;25313996;25427968;25435214;25880347;25907612;26091039;26214590;27227380;27363989;2738036;27397612;2742826;27452731;27726376;27742543;27862975;2819242;28228285;2866798;28904123;28939558;29242379;29467321;29493099;29557506;29605689;29632711;29671580;2971042;2971046;29741879;2976995;29789417;2990550;30034615;30115681;30237853;30397120;30429286;30794926;30833945;31154438;31530632;3160702;31608988;31844290;31848261;32125861;32157095;32357974;32373127;3287375;33123756;3337908;34171305;34932366;35051231;35318648;35580925;3563970;36284347;36599322;36828807;37074911;37076872;3708159;37906135;37938771;38233949;38374144;6092346;6325435;6326808;6383194;6451630;6457647;6575689;6592597;6688357;6689067;6860649;6933547;7107587;7306501;7356959;7505120;7513017;7519608;7523391;7525263;7525578;7525634;7525824;7527330;7538844;7541634;7542249;7543116;7559467;7565670;7565795;7588299;7654933;7683646;7685013;7685021;7689487;7731720;7841300;7929275;7935411;7997267;8051079;8080993;8118028;8157000;8344274;8400260;8467233;8470043;8509453;8560266;8621540;8631894;8649368;8755247;8781553;8798654;8817670;8837778;8838667;8894645;8910476;8964575;9008162;9016719;9020159;9207064;9251239;9333233;9351824;936108;9430229;9443892;9497324;9565552;9566877;9628725;9709957;9733512;9733769;9786878;9858236;9858547;9922210", "class_list": "", "function": "A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]., [RefSeq]; Together with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerizes to form an insoluble fibrin matrix. Has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the antibacterial immune response via both innate and T-cell mediated pathways., [UniProtKB, UniProtKB]; Two Novel Heterozygous Mutations (p.gammaPhe230Val and p.AalphaAsn839Thr) Cause Hereditary Hypodysfibrinogenemia in Two Chinese Independent Families., [RefSeq, PubMed]; [Genetic analysis of a Chinese pedigree affected with Congenital dysfibrinogenemia due to variant of FGG gene]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 5, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 109, "disease_count": 19, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K057;P04469;P04470;Q53Y18;Q96A14;Q96KJ3;Q9UC62;Q9UC63;Q9UCF3", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0046872 metal ion binding;GO:0005198 structural molecule activity;GO:0050839 cell adhesion molecule binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0051592 response to calcium ion;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0007160 cell-matrix adhesion;GO:0050714 positive regulation of protein secretion;GO:0042730 fibrinolysis", "synthesized_glycan_count": 0, "hit_score": 56.3, "record_id": "P02679-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75293-1", "uniprot_id": [ { "id": "GA45B_HUMAN", "url": "https://www.uniprot.org/uniprot/O75293", "type": "external" } ], "mass": 17818.0, "length": 160, "protein_name": "Growth arrest and DNA damage-inducible protein GADD45 beta", "gene_name": "GADD45B", "organism": "Human", "refseq_name": "growth arrest and DNA damage-inducible protein GADD45 beta", "refseq_ac": [ { "id": "NP_056490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056490", "type": "external" } ], "gene_names_uniprotkb": "GADD45B; MYD118", "gene_names_refseq": "GADD45BETA; GADD45B; MYD118", "protein_names_uniprotkb": "Growth arrest and DNA damage-inducible protein GADD45 beta; Myeloid differentiation primary response protein MyD118; Negative growth regulatory protein MyD118", "protein_names_refseq": "growth arrest and DNA damage-inducible protein GADD45 beta; myeloid differentiation primary response protein MyD118; negative growth regulatory protein MyD118", "tax_id": 9606, "disease": "", "pathway": " (hsa:4616)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "10773677;11237011;12716909;22645359;23481700;24714562;24715725;25505266;25576301;26024233;26154972;26992070;27862975;28218747;28228285;28832583;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30779550;30833945;31154438;31844290;31848261;31998317;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33633747;33691108;33912179;33968037;33981976;34087483;34171305;34509645;35051231;35318648;35561310;35580925;36010968;36215666;36241641;37534585;37608794;37662480;38070141;38614306;9029102;9827804", "class_list": "", "function": "Expression of GADD45B in Renal Tissue of Children with IgA Nephropathy and Correlation with Mesangial Hypercellularity., [RefSeq, PubMed]; GADD45B in the ventral hippocampal CA1 modulates aversive memory acquisition and spatial cognition., [RefSeq, PubMed]; GADD45B regulates the carcinogenesis process of chronic atrophic gastritis and the metabolic pathways of gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Has-miR-300-GADD45B promotes melanoma growth via cell cycle. Erratum:[Aging (Albany NY). 2024 Jan 14;16(1):983. doi: 10.18632/aging.205515. PMID: 38219232], [RefSeq, PubMed]; Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK., [UniProtKB]; Key Roles of p53 Signaling Pathway-Related Factors GADD45B and SERPINE1 in the Occurrence and Development of Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8KAM2;O75960;Q17R46", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0030154 cell differentiation;GO:0043065 positive regulation of apoptotic process;GO:0046330 positive regulation of JNK cascade;GO:0006915 apoptotic process;GO:1900745 positive regulation of p38MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "O75293-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TD97-1", "uniprot_id": [ { "id": "FHL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TD97", "type": "external" } ], "mass": 32720.0, "length": 284, "protein_name": "Four and a half LIM domains protein 5", "gene_name": "FHL5", "organism": "Human", "refseq_name": "four and a half LIM domains protein 5", "refseq_ac": [ { "id": "NP_001164278", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164278", "type": "external" } ], "gene_names_uniprotkb": "FHL5; ACT", "gene_names_refseq": "1700027G07Rik; ACT; FHL-5; FHL5; dJ393D12.2", "protein_names_uniprotkb": "Four and a half LIM domains protein 5; Activator of CREM in testis; Activator of cAMP-responsive element modulator in testis; FHL-5", "protein_names_refseq": "LIM protein ACT; activator of cAMP-responsive element modulator (CREM) in testis; activator of cAMP-responsive element modulator in testis; four and a half LIM domains protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:9457)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;11327716;12039695;32938616;33762637;35580925;37017084;37452735", "class_list": "", "function": "Association of FHL5 and LPA genetic polymorphisms with diabetes mellitus risk: a case-control study., [RefSeq, PubMed]; Common variants in KCNK5 and FHL5 genes contributed to the susceptibility of migraine without aura in Han Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; FHL5 Controls Vascular Disease-Associated Gene Programs in Smooth Muscle Cells., [RefSeq, PubMed]; May be involved in the regulation of spermatogenesis. Stimulates CREM transcriptional activity in a phosphorylation-independent manner., [UniProtKB, PubMed, UniProtKB, UniProtKB]; No difference was found in the levels of ICER transcripts in thyroid adenomas and surrounding normal tissue (obtained at surgery), independently of the TSH receptor gene status., [RefSeq, PubMed]; The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Polymorphisms in this gene may be associated with susceptibility for migraine headaches. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Apr 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B2RBD1;E1P526;Q5TD98;Q8WW21;Q9NQU2", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0030018 Z disc", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q5TD97-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94886-1", "uniprot_id": [ { "id": "TM63A_HUMAN", "url": "https://www.uniprot.org/uniprot/O94886", "type": "external" } ], "mass": 92126.0, "length": 807, "protein_name": "Mechanosensitive cation channel TMEM63A", "gene_name": "TMEM63A", "organism": "Human", "refseq_name": "mechanosensitive cation channel TMEM63A", "refseq_ac": [ { "id": "NP_055513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055513", "type": "external" } ], "gene_names_uniprotkb": "TMEM63A; KIAA0489; KIAA0792", "gene_names_refseq": "HLD19; KIAA0792; TMEM63A; hTMEM63A", "protein_names_uniprotkb": "Mechanosensitive cation channel TMEM63A; Transmembrane protein 63A; hTMEM63A", "protein_names_refseq": "CSC1-like protein 1; mechanosensitive cation channel TMEM63A", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 19 (Disease Ontology:DOID:0070400); central nervous system disease (Disease Ontology:DOID:331)", "pathway": " (hsa:9725); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19913121;20628086;20957757;23481700;23650620;24190977;24715725;25645385;26154972;26992070;27452731;28467828;28834231;29242379;29393594;29557506;29632046;29632711;30315122;30379171;30382938;30410026;30429286;30779550;31092671;31154438;31587869;31844290;32157095;32161166;32350084;32357974;32897882;32938616;32983136;33392160;33691108;33785861;33912179;33968037;34185709;34357683;34598833;35051231;35154160;35251023;35580925;36284347;37074911;37402734;37543036;37938771;38127458;38189136;38217391;38665916;38790154;38951194;39716028;8692836", "class_list": "", "function": "A monomeric structure of human TMEM63A protein., [RefSeq, PubMed]; Mechanosensitive cation channel with low conductance and high activation threshold (PubMed:30382938, PubMed:31587869, PubMed:37543036). In contrast to TMEM63B, does not show phospholipid scramblase activity (PubMed:39716028). Acts as a regulator of lysosomal morphology by mediating lysosomal mechanosensitivity (By similarity). Important for the baby's first breath and respiration throughout life (PubMed:38127458). Upon lung inflation conducts cation currents in alveolar type 1 and 2 cells triggering lamellar body exocytosis and surfactant secretion into airspace (PubMed:38127458). Also acts as an osmosensitive cation channel preferentially activated by hypotonic stress (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Stretch response of the mechano-gated channel TMEM63A in membrane patches and single 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q53GI7;Q5TE96;Q8N2U2", "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:0003676 nucleic acid binding;GO:0005227 calcium-activated cation channel activity;GO:0008381 mechanosensitive monoatomic ion channel activity;GO:1990760 osmolarity-sensing monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0070062 extracellular exosome;GO:0070821 tertiary granule membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0007040 lysosome organization;GO:0160069 surfactant secretion", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "O94886-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Y22-1", "uniprot_id": [ { "id": "CONA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Y22", "type": "external" } ], "mass": 51944.0, "length": 540, "protein_name": "Collagen alpha-1(XXIII) chain", "gene_name": "COL23A1", "organism": "Human", "refseq_name": "collagen alpha-1(XXIII) chain", "refseq_ac": [ { "id": "NP_775736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775736", "type": "external" } ], "gene_names_uniprotkb": "COL23A1", "gene_names_refseq": "COL23A1", "protein_names_uniprotkb": "Collagen alpha-1(XXIII) chain", "protein_names_refseq": "collagen alpha-1(XXIII) chain; collagen, type XXIII, alpha 1; procollagen, type XXIII, alpha 1", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:91522); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-216083); (R-HSA-8948216)", "pathway_count": 5, "publication_count": 139, "publication_id_list": "10049780;10209034;10366422;10438935;10479448;10543983;10551873;10593924;10605720;10640428;10673366;10713152;10809722;10811134;10934207;10982388;11013208;11119712;11158588;11237011;11518510;11572855;11577169;11713259;11927537;11980922;12473679;12475640;12496264;12579531;12585966;12644459;12646579;12682293;12807887;1323838;14500733;15005656;15044469;15240572;15257288;15330449;15345499;15383545;15713743;1577494;1588291;15899827;15950618;16002701;16051604;16239428;16591531;16728390;16731529;16754661;16825197;16933105;1704217;17088321;171650;17339034;17627939;17968485;18487197;18622425;18710925;18775695;19075007;19502598;19693541;19724895;20033473;2005102;2010551;20470363;20705068;21593211;21652699;2169335;21878990;21935455;21967573;22241472;22382088;2253219;22539938;22884367;23374253;2537292;2543975;2548603;2551898;2834383;2845110;28510447;3038863;3173483;31844290;3223920;32387766;34509645;35051231;35251023;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7505120;7525578;7541634;7542249;7559467;7685013;7890717;8118028;8344274;8463259;8560266;8576151;8798654;8838667;8910476;8920930;8999957;9054364;9092507;9251239;9443892;9545296;9560306;9565552;9582318;9651395;9858236", "class_list": "", "function": "Analysis of collagen XXIII mRNA and protein, [RefSeq, PubMed]; COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]., [RefSeq]; Data suggest that extracellular membrane-bound CAIV, but not cytosolic CAII, augments transport activity of MCT2 in a non-catalytic manner, possibly by facilitating a proton pathway other than His-88, [RefSeq, PubMed]; Identification and cloning; a new member of the transmembrane collagen family, showing structural homology with the transmembrane collagens XIII and XXV, [RefSeq, PubMed]; Newly synthesized collagen XXIII either is cleaved inside the Golgi/trans-Golgi network or reaches the cell surface, where it becomes protected from processing by being localized in lipid rafts., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8IVR4;Q9NT93", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "Q86Y22-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T2E6-1", "uniprot_id": [ { "id": "ARMD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T2E6", "type": "external" } ], "mass": 78710.0, "length": 689, "protein_name": "Armadillo-like helical domain-containing protein 3", "gene_name": "ARMH3", "organism": "Human", "refseq_name": "armadillo-like helical domain-containing protein 3", "refseq_ac": [ { "id": "NP_078817", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078817", "type": "external" } ], "gene_names_uniprotkb": "ARMH3; C10orf76", "gene_names_refseq": "ARMH3; C10orf76; DGARM", "protein_names_uniprotkb": "Armadillo-like helical domain-containing protein 3", "protein_names_refseq": "UPF0668 protein C10orf76; armadillo-like helical domain-containing protein 3; distal Golgi armadillo repeat protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79591)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;16385451;22544926;23481700;23572552;25576301;25892735;26154972;26375851;26992070;27846572;27862975;28904123;29242379;29557506;30429286;31217245;31519766;31844290;32157095;32350084;32387766;32502341;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34171305;34211107;34932366;35051231;35580925;36010968;36284347;37195633", "class_list": "", "function": "Involved in GBF1 recruitment, Golgi maintenance and protein secretion., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The C10orf76-PI4KB axis orchestrates CERT-mediated ceramide trafficking to the distal Golgi., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2TB87;Q9H8Z9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:1903358 regulation of Golgi organization", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q5T2E6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14867-1", "uniprot_id": [ { "id": "GBRA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P14867", "type": "external" } ], "mass": 51802.0, "length": 456, "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-1", "gene_name": "GABRA1", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit alpha-1 precursor", "refseq_ac": [ { "id": "NP_000797", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000797", "type": "external" } ], "gene_names_uniprotkb": "GABRA1", "gene_names_refseq": "DEE19; ECA4; EIEE19; EJM5; EJM; GABRA1", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit alpha-1; GABA(A) receptor subunit alpha-1; GABAAR subunit alpha-1", "protein_names_refseq": "GABA(A) receptor subunit alpha-1; GABA(A) receptor, alpha 1; GABAAR subunit alpha-1; gamma-aminobutyric acid (GABA) A receptor, alpha 1; gamma-aminobutyric acid receptor subunit alpha-1 precursor; gamma-aminobutyric acid receptor subunit alpha-1; gamma-aminobutyric acid type A receptor alpha1 subunit", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 19 (Disease Ontology:DOID:0080431); obsolete idiopathic generalized epilepsy 13 (Disease Ontology:DOID:0111314); hepatic encephalopathy (Disease Ontology:DOID:13413); generalized epilepsy (Disease Ontology:DOID:1827); epilepsy with generalized tonic-clonic seizures (Disease Ontology:DOID:7725)", "pathway": " (hsa:2554); (R-HSA-1236394); (R-HSA-977443)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10.1101/2023.09.13.557529;10449790;10542332;10867024;11237011;11992121;1315307;1321750;15024690;1664410;16718694;17364682;17398006;17545517;18382465;1849271;18721752;19828786;21714819;23909897;24623842;2465923;25489750;27864847;2847710;28978485;29557506;29742426;29950725;30266951;30602789;31844290;34740144;35051231;35150350;36010968;37703949;7565730;7929212;8264558;8382267;8391122;8617750;8632757;8719414;8719416;9135143;9168115;9275162;9556621", "class_list": "", "function": "Alpha subunit of the heteropentameric ligand-gated chloride channel gated by Gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:23909897, PubMed:25489750, PubMed:29950725, PubMed:30602789). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (PubMed:29950725, PubMed:30602789). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:23909897, PubMed:29950725, PubMed:30602789). Alpha-1/GABRA1-containing GABAARs are largely synaptic (By similarity). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (By similarity). GABAARs containing alpha-1 and beta-2 or -3 subunits exhibit synaptogenic activity; the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation (PubMed:23909897, PubMed:25489750). GABAARs function also as histamine receptor where histamine binds at the interface of two neighboring beta subunits and potentiates GABA response (By similarity). GABAARs containing alpha, beta and epsilon subunits also permit spontaneous chloride channel activity while preserving the structural information required for GABA-gated openings (By similarity). Alpha-1-mediated plasticity in the orbitofrontal cortex regulates context-dependent action selection (By similarity). Together with rho subunits, may also control neuronal and glial GABAergic transmission in the cerebellum (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human., [RefSeq, PubMed]; GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients., [RefSeq, PubMed]; Impact of GABAA receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study., [RefSeq, PubMed]; This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 12, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DQK6;Q8N629", "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:0004890 GABA-A receptor activity;GO:0022851 GABA-gated chloride ion channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0005254 chloride channel activity;GO:0005230 extracellular ligand-gated monoatomic ion channel activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0043197 dendritic spine;GO:0030659 cytoplasmic vesicle membrane;GO:0098794 postsynapse", "go_biological_process": "GO:0007214 gamma-aminobutyric acid signaling pathway;GO:1902476 chloride transmembrane transport;GO:0051932 synaptic transmission, GABAergic;GO:1904862 inhibitory synapse assembly;GO:0160001 extrasynaptic signaling via GABA", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "P14867-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NA57-1", "uniprot_id": [ { "id": "CL050_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NA57", "type": "external" } ], "mass": 47326.0, "length": 414, "protein_name": "Uncharacterized protein C12orf50", "gene_name": "C12orf50", "organism": "Human", "refseq_name": "uncharacterized protein C12orf50 isoform 1", "refseq_ac": [ { "id": "NP_689802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689802", "type": "external" } ], "gene_names_uniprotkb": "C12orf50", "gene_names_refseq": "C12orf50; ZC3H11D", "protein_names_uniprotkb": "Uncharacterized protein C12orf50", "protein_names_refseq": "uncharacterized protein C12orf50 isoform 1; uncharacterized protein C12orf50", "tax_id": 9606, "disease": "", "pathway": " (hsa:160419)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;18452278;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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6P674", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8NA57-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MU93-1", "uniprot_id": [ { "id": "CQ100_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MU93", "type": "external" } ], "mass": 13000.0, "length": 118, "protein_name": "Uncharacterized protein C17orf100", "gene_name": "C17orf100", "organism": "Human", "refseq_name": "uncharacterized protein C17orf100", "refseq_ac": [ { "id": "NP_001098990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098990", "type": "external" } ], "gene_names_uniprotkb": "C17orf100", "gene_names_refseq": "C17orf100", "protein_names_uniprotkb": "Uncharacterized protein C17orf100", "protein_names_refseq": "hCG1985469; uncharacterized protein C17orf100", "tax_id": 9606, "disease": "", "pathway": " (hsa:388327)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DTM5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A8MU93-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG12-1", "uniprot_id": [ { "id": "DERPC_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG12", "type": "external" } ], "mass": 51391.0, "length": 524, "protein_name": "Decreased expression in renal and prostate cancer protein", "gene_name": "DERPC", "organism": "Human", "refseq_name": "decreased expression in renal and prostate cancer protein isoform 1", "refseq_ac": [ { "id": "NP_001002847", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002847", "type": "external" } ], "gene_names_uniprotkb": "DERPC", "gene_names_refseq": "DERPC", "protein_names_uniprotkb": "Decreased expression in renal and prostate cancer protein", "protein_names_refseq": "Protein DERPC; chromosome transmission fidelity protein 8 homolog; decreased expression in renal and prostate cancer protein isoform 1; decreased expression in renal and prostate cancer protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:113455421)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "12477976;18213475;23186163;24715725;25576301;25892735;27600516;27846572;28649982;28657654;28832583;29242379;29351928;29393594;29508533;29557506;29632711;30379171;30429286;31492838;31844290;32350084;32357974;32387766;32488085;32938616;32938750;32983136;33043033;33298915;33592498;33912179;33968037;34357683;34509645;35051231;35132862;35251023;35254053;35513511;35580925;35705054;36284347;36581221;37541260;37938771;39302247;40307207", "class_list": "", "function": "Decreased expression of DERPC may be implicated in tumorigenesis of prostate and renal tumors, [RefSeq, PubMed]; Potential tumor suppressor. Inhibits prostate tumor cell growth, when overexpressed., [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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A8MYX8;Q71E72;Q8NDH8;Q8WV66;Q9NX73", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "P0CG12-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14376-1", "uniprot_id": [ { "id": "GALE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14376", "type": "external" } ], "mass": 38282.0, "length": 348, "protein_name": "UDP-glucose 4-epimerase", "gene_name": "GALE", "organism": "Human", "refseq_name": "UDP-glucose 4-epimerase", "refseq_ac": [ { "id": "NP_000394", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000394", "type": "external" } ], "gene_names_uniprotkb": "GALE", "gene_names_refseq": "GALE; SDR1E1; THC13", "protein_names_uniprotkb": "UDP-glucose 4-epimerase; 5.1.3.2; 5.1.3.7; Galactowaldenase; UDP-GalNAc 4-epimerase; UDP-GlcNAc 4-epimerase; UDP-N-acetylgalactosamine 4-epimerase; UDP-N-acetylglucosamine 4-epimerase; UDP-galactose 4-epimerase", "protein_names_refseq": "UDP galactose-4'-epimerase; UDP-GalNAc 4-epimerase; UDP-GlcNAc 4-epimerase; UDP-N-acetylgalactosamine 4-epimerase; UDP-N-acetylglucosamine 4-epimerase; UDP-glucose 4-epimerase; epididymis secretory sperm binding protein; galactose-4-epimerase, UDP-; galactowaldenase; short chain dehydrogenase/reductase family 1E, member 1", "tax_id": 9606, "disease": "galactose epimerase deficiency (Disease Ontology:DOID:0111458); thrombocytopenia (Disease Ontology:DOID:1588); galactosemia (Disease Ontology:DOID:9870); thrombocytopenia 13, syndromic (MONDO:MONDO:0958333)", "pathway": " (hsa:2582); (R-HSA-5609977); (R-HSA-70370)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10801319;11117433;11237011;11279032;11279193;11903335;12753898;15026423;15175331;15639193;16301867;16302980;16385452;18188677;1897530;20068231;2011574;22613355;22654673;23732289;25505266;25645385;25892735;27600516;27846572;28218747;28834231;28904123;29242379;29314611;29769354;30247636;30315122;30573663;31092671;31217245;31827638;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32938616;32983136;33298915;33510604;33592498;33912179;33968037;34159722;34509645;34725712;36284347;36395340;36846897;39894887;40914422;6408303;7305435;7542884;7851421;8593531;9326324;9538513;9973283", "class_list": "glycogene", "function": "Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids., [UniProtKB, PubMed, PubMed]; Expansion of the clinical phenotype of GALE deficiency., [RefSeq, PubMed]; GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction., [RefSeq, PubMed]; High GALE expression is associated with differentiation Grade of Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis., [RefSeq, PubMed]; This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 469, "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": "A0A024RAH5;B3KQ39;Q38G75;Q86W41;Q9BVE3;Q9UJB4", "ec_number_list": [ { "id": "5.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.2", "type": "external" }, { "id": "5.1.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.7", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0003978 UDP-glucose 4-epimerase activity;GO:0003974 UDP-N-acetylglucosamine 4-epimerase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0019388 galactose catabolic process;GO:0033499 galactose catabolic process via UDP-galactose, Leloir pathway;GO:0006012 galactose metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q14376-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PEY0-1", "uniprot_id": [ { "id": "CXB7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PEY0", "type": "external" } ], "mass": 25860.0, "length": 223, "protein_name": "Gap junction beta-7 protein", "gene_name": "GJB7", "organism": "Human", "refseq_name": "gap junction beta-7 protein", "refseq_ac": [ { "id": "NP_940970", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940970", "type": "external" } ], "gene_names_uniprotkb": "GJB7; CX25", "gene_names_refseq": "CX25; GJB7; bA136M9.1; connexin25", "protein_names_uniprotkb": "Gap junction beta-7 protein; Connexin-25; Cx25", "protein_names_refseq": "connexin-25; gap junction beta-7 protein; gap junction protein, beta 7, 25kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:375519); (R-HSA-190861)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "10191254;11237011;12064583;12108537;12881038;15536180;17200141;1850831;26375552;29557506;35580925;7929580", "class_list": "", "function": "Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]., [RefSeq]; High CX25 expression is associated with leukemia., [RefSeq, PubMed]; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KXL0;Q96KP0", "ec_number_list": [], "go_molecular_function": "GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0055085 transmembrane transport;GO:0007154 cell communication", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6PEY0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75534-1", "uniprot_id": [ { "id": "CSDE1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75534", "type": "external" } ], "mass": 88885.0, "length": 798, "protein_name": "Cold shock domain-containing protein E1", "gene_name": "CSDE1", "organism": "Human", "refseq_name": "cold shock domain-containing protein E1 isoform 1", "refseq_ac": [ { "id": "NP_001007554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554", "type": "external" } ], "gene_names_uniprotkb": "CSDE1; D1S155E; KIAA0885; NRU; UNR", "gene_names_refseq": "CSDE1; D1S155E; UNR", "protein_names_uniprotkb": "Cold shock domain-containing protein E1; N-ras upstream gene protein; Protein UNR", "protein_names_refseq": "N-ras upstream gene protein; NRAS-related; cold shock domain containing E1, RNA binding; cold shock domain-containing protein E1 isoform 1; cold shock domain-containing protein E1; upstream of NRAS", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:7812)", "pathway_count": 1, "publication_count": 141, "publication_id_list": "10.1101/2023.09.13.557529;10049359;10931946;11051545;11237011;15314026;16356927;17081983;17287340;18669648;18991276;19413330;19608861;19651622;19664994;20068231;20213426;20305658;2052355;21406692;22424782;22544926;23186163;23301498;23481700;23783831;24029068;24366607;24714562;24715725;25218447;25418920;25502872;25576301;25645385;25810538;25880248;25892735;26154972;26375851;26728094;26992070;27342281;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29395067;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30484775;30524438;30620550;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32354837;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33214551;33298915;33392160;33465208;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34405274;34509645;34561969;34725712;34932366;35021076;35051231;35138101;35251023;35318648;35490208;35561310;35580925;36010968;36103516;36215666;36241641;36284347;36581221;37316325;37493604;37938771;38665916;40596516;40914422;8439573", "class_list": "", "function": "(Microbial infection) Required for internal initiation of translation of human rhinovirus RNA., [UniProtKB, PubMed]; CSDE1 promotes miR-451 biogenesis., [RefSeq, PubMed]; Cold shock domain-containing protein E1 is a posttranscriptional regulator of the LDL receptor., [RefSeq, PubMed]; Coordinated post-transcriptional control of oncogene-induced senescence by UNR/CSDE1., [RefSeq, PubMed]; RNA-binding protein involved in translationally coupled mRNA turnover (PubMed:11051545, PubMed:15314026). Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain (PubMed:11051545, PubMed:15314026). Required for efficient formation of stress granules (PubMed:29395067)., [UniProtKB, PubMed, PubMed, PubMed]; RNA-binding protein involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. Required for efficient formation of stress granules., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Reduced miR-371b-5p expression drives tumor progression via CSDE1/RAC1 regulation in triple-negative breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K281;E9PGZ0;G5E9Q2;O94961;Q5TF04;Q5TF05;Q68DF1;Q68DI9;Q9Y2S4", "ec_number_list": [], "go_molecular_function": "GO:1905172 RISC complex binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0035613 RNA stem-loop binding;GO:0140517 protein-RNA adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0000932 P-body;GO:0010494 cytoplasmic stress granule;GO:0070937 CRD-mediated mRNA stability complex;GO:0106002 mCRD-mediated mRNA stability complex", "go_biological_process": "GO:0070934 CRD-mediated mRNA stabilization;GO:2000767 positive regulation of cytoplasmic translation;GO:0075522 IRES-dependent viral translational initiation;GO:0008584 male gonad development;GO:0045727 positive regulation of translation", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "O75534-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZR85-1", "uniprot_id": [ { "id": "CQ107_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZR85", "type": "external" } ], "mass": 19931.0, "length": 190, "protein_name": "Uncharacterized protein C17orf107", "gene_name": "C17orf107", "organism": "Human", "refseq_name": "uncharacterized protein C17orf107", "refseq_ac": [ { "id": "NP_001139008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139008", "type": "external" } ], "gene_names_uniprotkb": "C17orf107", "gene_names_refseq": "C17orf107", "protein_names_uniprotkb": "Uncharacterized protein C17orf107", "protein_names_refseq": "uncharacterized protein C17orf107", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130311)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;29632711", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "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": "Q6ZR85-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHS1-1", "uniprot_id": [ { "id": "CLDN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHS1", "type": "external" } ], "mass": 17984.0, "length": 167, "protein_name": "Claudin domain-containing protein 2", "gene_name": "CLDND2", "organism": "Human", "refseq_name": "claudin domain-containing protein 2", "refseq_ac": [ { "id": "NP_689566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689566", "type": "external" } ], "gene_names_uniprotkb": "CLDND2", "gene_names_refseq": "CLDND2", "protein_names_uniprotkb": "Claudin domain-containing protein 2", "protein_names_refseq": "claudin domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:125875)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8NHS1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47211-1", "uniprot_id": [ { "id": "GALR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P47211", "type": "external" } ], "mass": 38953.0, "length": 349, "protein_name": "Galanin receptor type 1", "gene_name": "GALR1", "organism": "Human", "refseq_name": "galanin receptor type 1", "refseq_ac": [ { "id": "NP_001471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001471", "type": "external" } ], "gene_names_uniprotkb": "GALR1; GALNR1; GALNR", "gene_names_refseq": "GALNR1; GALNR; GALR1", "protein_names_uniprotkb": "Galanin receptor type 1; GAL1-R; GALR-1", "protein_names_refseq": "GAL1-R; GALR-1; galanin receptor type 1", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); opioid abuse (Disease Ontology:DOID:11206); opiate dependence (Disease Ontology:DOID:2559); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2587); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;23446738;23690594;24906252;2534964;25691535;26365466;2649896;26992070;2748346;27496565;2834384;31844290;3202875;32757697;33150179;3366244;35051231;3525564;35409094;35606503;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9367674;9425310;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "A Three Protein-Coding Gene Prognostic Model Predicts Overall Survival in Bladder Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Further evidence for the association of GAL, GALR1 and NPY1R variants with opioid dependence., [RefSeq, PubMed]; Galanin Receptors (GalR1, GalR2, and GalR3) Expression in Colorectal Cancer Tissue and Correlations to the Overall Survival and Poor Prognosis of CRC Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Promoter hypermethylation of GALR1 acts as an early epigenetic susceptibility event in colorectal carcinogenesis., [RefSeq, PubMed]; Receptor for the hormone galanin. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity., [UniProtKB, PubMed, PubMed]; The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q4VBL7", "ec_number_list": [], "go_molecular_function": "GO:0017046 peptide hormone binding;GO:0004966 galanin receptor activity;GO:0042923 neuropeptide binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007194 negative regulation of adenylate cyclase activity;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007218 neuropeptide signaling pathway;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "P47211-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95416-1", "uniprot_id": [ { "id": "SOX14_HUMAN", "url": "https://www.uniprot.org/uniprot/O95416", "type": "external" } ], "mass": 26485.0, "length": 240, "protein_name": "Transcription factor SOX-14", "gene_name": "SOX14", "organism": "Human", "refseq_name": "transcription factor SOX-14", "refseq_ac": [ { "id": "NP_004180", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004180", "type": "external" } ], "gene_names_uniprotkb": "SOX14; SOX28", "gene_names_refseq": "SOX14; SOX28", "protein_names_uniprotkb": "Transcription factor SOX-14; Protein SOX-28", "protein_names_refseq": "HMG box transcription factor SOX-14; SRY (sex determining region Y)-box 14; SRY-box 14; transcription factor SOX-14", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155)", "pathway": " (hsa:8403)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10441749;10830911;29557506;31154438;34098886;9827568;9925951", "class_list": "", "function": "Acts as a negative regulator of transcription., [UniProtKB]; SOX14 hypermethylation as a tumour biomarker in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAC0;Q3KPH7", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO: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:0007399 nervous system development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O95416-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95210-1", "uniprot_id": [ { "id": "STBD1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95210", "type": "external" } ], "mass": 39007.0, "length": 358, "protein_name": "Starch-binding domain-containing protein 1", "gene_name": "STBD1", "organism": "Human", "refseq_name": "starch-binding domain-containing protein 1", "refseq_ac": [ { "id": "NP_003934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003934", "type": "external" } ], "gene_names_uniprotkb": "STBD1; GENX-3414", "gene_names_refseq": "GENEX3414; GENX-3414; STBD1", "protein_names_uniprotkb": "Starch-binding domain-containing protein 1; Genethonin-1; Glycophagy cargo receptor STBD1", "protein_names_refseq": "genethonin 1; glycophagy cargo receptor STBD1; starch-binding domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8987); (R-HSA-6798695); (R-HSA-8980692); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013408); (R-HSA-9013423)", "pathway_count": 7, "publication_count": 250, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10618392;10619026;10652265;10699171;10847683;10873388;11058585;11085924;11145705;11149925;11207612;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11784792;11804589;11804590;11864571;11884391;11912491;11919634;11956649;11967128;12071859;12093360;12177196;12195014;12221077;12221096;12376551;12424126;12531887;12577064;12650940;12857875;12877655;14512443;1464587;14675773;15023524;15064355;15107133;15133129;15169870;15302923;15342493;15485661;15542837;15601624;15611138;15814684;15850391;15866170;16081809;16112081;16116428;16184169;16217026;16243035;16243036;16339170;16467373;16519628;1660188;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17027967;17060455;17064668;17077126;17158234;17214551;17269730;17562871;17698854;17702745;17765681;17804252;17916560;17932950;17942708;17976533;18056264;18158243;18191593;18218625;18662984;18669648;18697831;18829452;19269969;19494238;19534724;19562805;19581409;19605563;19635168;19673492;19713215;20030946;20058876;20101212;20166139;20400958;20591975;20628200;20660154;20679435;20810658;21148482;21151158;21351730;21378159;21454492;21565175;21621533;21699497;21865595;21893048;21936715;22096251;22298643;22305756;22665057;22673745;22734669;22911862;22992742;23087206;23096567;23200924;23255595;23434736;23481700;23572525;23650620;23757206;23870057;23870313;24086303;24102721;24128008;24259668;24275569;24335996;24352656;24623723;24659802;24837458;24933155;25211221;25704760;25746724;25862245;26016997;26371245;26529257;26628301;26887924;27145964;27216196;27481945;27713499;27852748;27986909;28112683;28196833;28356423;28486133;28584191;28947137;29146911;29557506;29776664;30779550;30833945;31105010;31154438;31389670;31848261;31871319;32157095;32203420;32897882;32938616;32983136;33968037;34059679;34087483;34509645;35580925;38253038;39236246;7476457;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8692836;8756646;8769096;8807639;8810315;8816443;8939998;8945468;9013646;9111050;9113980;9252344;9305890;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9705280;9792683;9794794;9822605;9829970", "class_list": "glycogene", "function": "Acts as a cargo receptor for glycogen. Delivers its cargo to an autophagic pathway called glycophagy, resulting in the transport of glycogen to lysosomes., [UniProtKB, PubMed, PubMed, PubMed]; Atg8 interacting motif (AIM) in Stbd1 is necessary for GABARAPL1 binding., [RefSeq, PubMed]; Decoding the molecular mechanism of selective autophagy of glycogen mediated by autophagy receptor STBD1., [RefSeq, PubMed]; Model-based analysis uncovers mutations altering autophagy selectivity in human cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 423, "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": "B3KVZ9", "ec_number_list": [], "go_molecular_function": "GO:0030247 polysaccharide binding;GO:0019899 enzyme binding;GO:2001070 starch binding;GO:2001069 glycogen binding;GO:0038024 cargo receptor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070821 tertiary granule membrane", "go_biological_process": "GO:0007041 lysosomal transport;GO:0061723 glycophagy;GO:0061753 substrate localization to autophagosome;GO:0005980 glycogen catabolic process", "synthesized_glycan_count": 0, "hit_score": 25.4, "record_id": "O95210-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94915-1", "uniprot_id": [ { "id": "FRYL_HUMAN", "url": "https://www.uniprot.org/uniprot/O94915", "type": "external" } ], "mass": 339598.0, "length": 3013, "protein_name": "Protein furry homolog-like", "gene_name": "FRYL", "organism": "Human", "refseq_name": "protein furry homolog-like", "refseq_ac": [ { "id": "NP_055845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055845", "type": "external" } ], "gene_names_uniprotkb": "FRYL; AF4P12; KIAA0826", "gene_names_refseq": "AF4p12; FRYL; KIAA0826; MOR2; PCBS", "protein_names_uniprotkb": "Protein furry homolog-like; ALL1-fused gene from chromosome 4p12 protein", "protein_names_refseq": "ALL1-fused gene from chromosome 4p12 protein; FRY-like; furry homolog-like; furry-like; mor2 cell polarity protein homolog; protein furry homolog-like", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); Pan-Chung-Bellen syndrome (Disease Ontology:DOID:0061146)", "pathway": " (hsa:285527)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16061630;16964243;17854671;18452278;18669648;18691976;18767875;19413330;19690332;20058876;20068231;21835304;22424782;23186163;23481700;24275569;24366607;24715725;25576301;25880248;25892735;26154972;26992070;27600516;27846572;27869121;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29557506;29769354;29786170;29789417;30315122;30410026;30429286;30484775;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34357683;34509645;34725712;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38479391", "class_list": "", "function": "De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features., [RefSeq, PubMed]; Plays a key role in maintaining the integrity of polarized cell extensions during morphogenesis, regulates the actin cytoskeleton and plays a key role in patterning sensory neuron dendritic fields by promoting avoidance between homologous dendrites as well as by limiting dendritic branching (By similarity). May function as a transcriptional activator., [UniProtKB, PubMed]; Thus, t(4;11)(p12;q23) with MLL and FRYL involvement represents a new recurring 11q23 translocation, to date seen only in therapy-related acute leukemias., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 66, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O95640;Q8WTZ5;Q9NT40", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005938 cell cortex;GO:0030427 site of polarized growth", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0031175 neuron projection development;GO:0000902 cell morphogenesis", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "O94915-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2Z9-1", "uniprot_id": [ { "id": "COQ6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2Z9", "type": "external" } ], "mass": 50870.0, "length": 468, "protein_name": "Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial", "gene_name": "COQ6", "organism": "Human", "refseq_name": "ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform a", "refseq_ac": [ { "id": "NP_872282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872282", "type": "external" } ], "gene_names_uniprotkb": "COQ6; CGI-10", "gene_names_refseq": "CGI-10; CGI10; COQ10D6; COQ6", "protein_names_uniprotkb": "Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial; 1.14.15.45; 1.14.15.46; 2-methoxy-6-polyprenolphenol 4-hydroxylase; Coenzyme Q10 monooxygenase 6", "protein_names_refseq": "2-methoxy-6-polyprenolphenol 4-hydroxylase; coenzyme Q10 monooxygenase 6; coenzyme Q6 homolog, monooxygenase; ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform a; ubiquinone biosynthesis monooxygenase COQ6, mitochondrial", "tax_id": 9606, "disease": "primary coenzyme Q10 deficiency 6 (Disease Ontology:DOID:0070243); nephrotic syndrome (Disease Ontology:DOID:1184); schwannomatosis (Disease Ontology:DOID:3204)", "pathway": " (hsa:51004); (R-HSA-2142789)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10501970;10777520;11237011;12721307;15153069;16262699;16624818;17374725;17916383;20877624;21540551;21944752;23354120;24270420;24763291;25152161;25339443;25880248;26260787;26375851;26992070;27155576;27499296;27846572;27920218;28044327;28117207;28218747;28832583;28834231;29242379;29393594;29557506;29632711;30315122;30524438;30682496;30779550;31154438;31492838;31844290;31848261;32157095;32357974;32387766;32502341;32707086;32897882;32938616;33298915;33691108;33981976;34357683;34471290;34509645;34932366;35051231;36241641;36306796;36658222;38425362;40596516;8621692;9083049", "class_list": "", "function": "COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness, [RefSeq, PubMed]; Data indicate a heterozygous loss-of-function coenzyme Q10 (CoQ10) biosynthesis monooxygenase 6 gene (COQ6)missense mutation in familial schwannomatosis., [RefSeq, PubMed]; FAD-dependent monooxygenase required for two non-consecutive steps during ubiquinone biosynthesis (PubMed:26260787, PubMed:38425362). Required for the C5-ring hydroxylation during ubiquinone biosynthesis by catalyzing the hydroxylation of 4-hydroxy-3-(all-trans-decaprenyl)benzoic acid to 3,4-dihydroxy-5-(all-trans-decaprenyl)benzoic acid (PubMed:26260787, PubMed:38425362). Also acts downstream of COQ4, for the C1-hydroxylation during ubiquinone biosynthesis by catalyzing the hydroxylation of 2-methoxy-6-(all-trans-decaprenyl)phenol to 2-methoxy-6-(all-trans-decaprenyl)benzene-1,4-diol (PubMed:38425362). The electrons required for the hydroxylation reaction are funneled indirectly to COQ6 from NADPH via a ferredoxin/ferredoxin reductase system composed of FDX2 and FDXR (PubMed:26260787, PubMed:38425362)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Primary CoQ10 deficiency due to COQ6 mutations should be considered in children presenting with both Steroid-Resistant Focal Segmental Glomerulosclerosis and sensorineural hearing loss. An early diagnosis of COQ6 mutations is essential because the condition is treatable when CoQ10 supplementation is started at the early stage., [RefSeq, PubMed]; Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype., [RefSeq, PubMed]; The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "B7Z3K8;Q53GG6;Q86U30;Q96CA1;Q96CK2", "ec_number_list": [ { "id": "2.1.1.201", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.201", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" }, { "id": "1.14.99.60", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.60", "type": "external" }, { "id": "1.14.13.253", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.253", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.114", "type": "external" }, { "id": "2.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.64", "type": "external" }, { "id": "1.14.15.45", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.45", "type": "external" }, { "id": "1.14.15.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.46", "type": "external" }, { "id": "4.1.1.130", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.130", "type": "external" } ], "go_molecular_function": "GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;GO:0071949 FAD binding;GO:0016491 oxidoreductase activity;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;GO:0106364 4-hydroxy-3-all-trans-polyprenylbenzoate oxygenase activity", "go_cellular_component": "GO:0031314 extrinsic component of mitochondrial inner membrane;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005794 Golgi apparatus;GO:0042995 cell projection", "go_biological_process": "GO:0006744 ubiquinone biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9Y2Z9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5I7-1", "uniprot_id": [ { "id": "CLD16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5I7", "type": "external" } ], "mass": 26078.0, "length": 235, "protein_name": "Claudin-16", "gene_name": "CLDN16", "organism": "Human", "refseq_name": "claudin-16", "refseq_ac": [ { "id": "NP_001365421", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001365421", "type": "external" } ], "gene_names_uniprotkb": "CLDN16; PCLN1", "gene_names_refseq": "CLDN16; HOMG3; PCLN1", "protein_names_uniprotkb": "Claudin-16; PCLN-1; Paracellin-1", "protein_names_refseq": "claudin-16; hypomagnesemia 3, with hypercalciuria and nephrocalcinosis; paracellin-1", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); renal hypomagnesemia 3 (Disease Ontology:DOID:0060880); Parkinsonism (Disease Ontology:DOID:0080855); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); hypertension (Disease Ontology:DOID:10763); cystitis (Disease Ontology:DOID:1679); renal tubular transport disease (Disease Ontology:DOID:447)", "pathway": " (hsa:10686); (R-HSA-420029)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10390358;10878661;11237011;11447115;11518780;11964389;12953056;14628289;16129888;16234325;16528408;16608877;18188451;19706394;28028216;28228285;29242379;30232134;30576809;30621608;31357502;35714216;36008380", "class_list": "", "function": "A Novel Mutation in CLDN16 Gene Causing Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis in An Iranian Family., [RefSeq, PubMed]; Forms paracellular channels: coassembles with CLDN19 into tight junction strands with cation-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:16234325, PubMed:18188451, PubMed:28028216). Involved in the maintenance of ion gradients along the nephron. In the thick ascending limb (TAL) of Henle's loop, facilitates sodium paracellular permeability from the interstitial compartment to the lumen, contributing to the lumen-positive transepithelial potential that drives paracellular magnesium and calcium reabsorption (PubMed:10390358, PubMed:11518780, PubMed:14628289, PubMed:16528408, PubMed:28028216)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mutations in CLDN16 that encodes claudin-16, a tight-junction protein involved in paracellular reabsorption of magnesium and calcium in the renal tubule. Publication Status: Online-Only, [RefSeq, PubMed]; No significant associations were found among claudin-16 and claudin-19 single-nucleotide polymorphisms and calcium excretion and between claudin-14, claudin-16, and claudin-19 single-nucleotide polymorphisms and stones., [RefSeq, PubMed]; Results show that CLDN16 mutation c.602G>A had no effect on pre-mRNA splicing in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. This study expands the genotypic classification of this rare disease and provides the first report of a CLDN19 mutation affecting splicing., [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. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. This gene and the CLDN1 gene are clustered on chromosome 3q28. [provided by RefSeq, Jun 2010]., [RefSeq]; To gain more understanding about the mechanisms by which CLDN16 mutations can induce FHHNC, we performed an in-depth computational analysis of the CLDN16 gene and protein, focusing specifically on the prediction of the latter's subcellular localization. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 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": "", "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:0042802 identical protein binding;GO:0005198 structural molecule activity;GO:0030165 PDZ domain binding;GO:0015095 magnesium ion transmembrane transporter activity;GO:0160187 paracellular tight junction channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0070160 tight junction", "go_biological_process": "GO:0070293 renal absorption;GO:0030001 metal ion transport;GO:0030003 intracellular monoatomic cation homeostasis;GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules;GO:0010496 intercellular transport", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9Y5I7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJS0-1", "uniprot_id": [ { "id": "S2513_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJS0", "type": "external" } ], "mass": 74176.0, "length": 675, "protein_name": "Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial", "gene_name": "SLC25A13", "organism": "Human", "refseq_name": "electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_001153682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153682", "type": "external" } ], "gene_names_uniprotkb": "SLC25A13; AGC2", "gene_names_refseq": "ARALAR2; CITRIN; CTLN2; NICCD; SLC25A13", "protein_names_uniprotkb": "Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial; ARALAR-related gene 2; ARALAR2; Calcium-binding mitochondrial carrier protein Aralar2; Citrin; Mitochondrial aspartate glutamate carrier 2; Solute carrier family 25 member 13", "protein_names_refseq": "ARALAR-related gene 2; calcium-binding mitochondrial carrier protein Aralar2; citrullinemia type II; electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 1; electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial; mitochondrial aspartate glutamate carrier 2; solute carrier family 25 (aspartate/glutamate carrier), member 13", "tax_id": 9606, "disease": "neonatal-onset type II citrullinemia (Disease Ontology:DOID:0070341); adult-onset type II citrullinemia (Disease Ontology:DOID:0070342); intrahepatic cholestasis (Disease Ontology:DOID:1852); common bile duct disease (Disease Ontology:DOID:4137); citrullinemia (Disease Ontology:DOID:9273)", "pathway": " (hsa:10165); (R-HSA-1268020); (R-HSA-8963693); (R-HSA-9856872)", "pathway_count": 4, "publication_count": 105, "publication_id_list": "10085079;10369257;10610724;10642534;11153906;11237011;11566871;11793471;12602510;14716746;14726512;15254020;15565635;15644312;15683237;16185709;16467855;16669630;16849325;16920706;17027983;17194761;17510655;18174896;18678864;19409522;19453276;19641205;19678840;19767391;19807691;19962426;20068231;20593814;21750375;22304711;2241899;22718265;23038267;23041349;23186163;23597483;23811401;24129315;24155240;24657844;25315652;25410934;25418920;25637873;2564390;26697887;26992070;27045997;27452731;27600516;2775751;28218747;28228285;28489076;28510447;28514659;28832583;28834231;29242379;29351928;29372909;29431636;29437277;29557506;29632046;30315122;30379171;30397120;30410026;3052244;31222486;31538237;31844290;32161166;32350084;32357974;32387766;32938616;33298915;33592498;33912179;33968037;34171305;35051231;35251023;35580925;36010968;36215666;37890575;37938771;37939726;38937634;38945283;39419476;4052435;40596516;40914422;4687397;8597574", "class_list": "", "function": "Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency., [RefSeq, PubMed]; Features of liver injury in 138 Chinese patients with NICCD. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871, PubMed:38937634, PubMed:38945283, PubMed:39419476). Substrate exchange across the membrane occurs consecutively with one substrate being transported first, then dissociating from the substrate binding site before the second substrate binds for transport in the opposite direction (PubMed:38937634). Also mediates the uptake of L-cysteinesulfinate (3-sulfino-L-alanine) by mitochondria in exchange for L-glutamate and proton (PubMed:11566871). Can also exchange L-cysteinesulfinate with aspartate in their anionic form without any proton translocation (PubMed:11566871). Lacks transport activity towards gamma-aminobutyric acid (GABA) (PubMed:38945283)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 26, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O14566;O14575;Q546F9;Q9NZW1;Q9UNI7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0005313 L-glutamate transmembrane transporter activity;GO:0015183 L-aspartate transmembrane transporter activity;GO:0000514 3-sulfino-L-alanine: proton, glutamate antiporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane", "go_biological_process": "GO:0006839 mitochondrial transport;GO:0051592 response to calcium ion;GO:0006754 ATP biosynthetic process;GO:0006094 gluconeogenesis;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q9UJS0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JTJ3-1", "uniprot_id": [ { "id": "COA6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JTJ3", "type": "external" } ], "mass": 14116.0, "length": 125, "protein_name": "Cytochrome c oxidase assembly factor 6 homolog", "gene_name": "COA6", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly factor 6 homolog isoform 2", "refseq_ac": [ { "id": "NP_001193570", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193570", "type": "external" } ], "gene_names_uniprotkb": "COA6; C1orf31", "gene_names_refseq": "C1orf31; CEMCOX4; COA6; MC4DN13", "protein_names_uniprotkb": "Cytochrome c oxidase assembly factor 6 homolog", "protein_names_refseq": "cytochrome c oxidase assembly factor 6 homolog isoform 2; cytochrome c oxidase assembly factor 6 homolog", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); COX deficiency, infantile mitochondrial myopathy (Disease Ontology:DOID:0050713); mitochondrial complex IV deficiency nuclear type 13 (Disease Ontology:DOID:0080360); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762)", "pathway": " (hsa:388753); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19767391;19962426;20593814;20877624;21750375;22356826;23041349;23597483;23811401;24549041;25315652;25339201;25576301;25959673;26160915;26697887;26992070;28218747;28330871;28832583;28904123;29154948;29437277;30315122;30779550;31373491;31844290;32157095;32977416;34105348;35580925;36982777;38395184", "class_list": "", "function": "COX assembly candidate, ortholog of fungal YMR244C-A GeneRIF: Co-purified with C7orf44 (the human ortholog of fungal COX assembly protein) Publication Status: Online-Only, [RefSeq, PubMed]; High Expression of COA6 Is Related to Unfavorable Prognosis and Enhanced Oxidative Phosphorylation in Lung Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Pan-cancer analysis reveals potential immunological and prognostic roles of COA6 in human cancers and preliminary exploration of COA6 in bladder cancer., [RefSeq, PubMed]; This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]., [RefSeq]; What Role Does COA6 Play in Cytochrome C Oxidase Biogenesis: A Metallochaperone or Thiol Oxidoreductase, or Both? 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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5JTJ2;Q5JTJ4;Q8TA88", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005507 copper ion binding;GO:0015035 protein-disulfide reductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly;GO:0008535 respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q5JTJ3-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8S9-1", "uniprot_id": [ { "id": "MOB1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8S9", "type": "external" } ], "mass": 25080.0, "length": 216, "protein_name": "MOB kinase activator 1A", "gene_name": "MOB1A", "organism": "Human", "refseq_name": "MOB kinase activator 1A isoform 2", "refseq_ac": [ { "id": "NP_001304039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304039", "type": "external" } ], "gene_names_uniprotkb": "MOB1A; C2orf6; MOB4B; MOBK1B; MOBKL1B", "gene_names_refseq": "C2orf6; MABKL1B; MATS1; MOB1A; MOB1; MOBK1B; MOBKL1B; Mob4B", "protein_names_uniprotkb": "MOB kinase activator 1A; Mob1 alpha; Mob1 homolog 1B; Mob1A; Mps one binder kinase activator-like 1B", "protein_names_refseq": "MOB kinase activator 1A isoform 2; MOB1 Mps One Binder homolog A; MOB1, Mps One Binder kinase activator-like 1B; mob1 alpha; mob1 homolog 1B; mps one binder kinase activator-like 1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:55233); (R-HSA-2028269)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "11118213;11278283;12665801;12962634;15109305;15197186;15688006;15766530;16930133;17085597;17287340;17697703;17974916;18158288;18212344;18227151;18328708;18362890;18669648;18691976;19739119;19919647;20068231;20412773;20850437;20868367;21187284;21205866;21224387;21233212;21555462;21808241;21832154;23431053;23783831;24366607;24397554;24714562;24715725;25502872;25576301;25645385;25802875;25892735;26154972;26992070;27397612;27543614;27555231;27600516;27862975;27920218;28218747;28228285;28514659;28675297;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31217245;31844290;31848261;31998317;32357974;32488085;32897882;32973917;32983136;33091337;33123756;33392160;33592498;33691108;33968037;33981976;34357683;34932366;34983617;35051231;35318648;35349706;35580925;36123327;36241641;36284347;8702870;9545236", "class_list": "", "function": "Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Stimulates the kinase activity of STK38 and STK38L. Acts cooperatively with STK3/MST2 to activate STK38., [UniProtKB, PubMed, PubMed, PubMed]; CAF-derived exosomal WEE2-AS1 facilitates colorectal cancer progression via promoting degradation of MOB1A to inhibit the Hippo pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Circular RNA circCCDC85A inhibits breast cancer progression via acting as a miR-550a-5p sponge to enhance MOB1A expression. Publication Status: Online-Only, [RefSeq, PubMed]; Mats1 can rescue the lethality associated with loss of Mats function in Drosophila; As Mats1 is mutated in human tumors, Mats-mediated growth inhibition and tumor suppression is likely conserved in humans, [RefSeq, PubMed]; Oxidative stress-CBP axis modulates MOB1 acetylation and activates the Hippo signaling pathway., [RefSeq, PubMed]; The protein encoded by this gene is a component of the Hippo signaling pathway, which controls organ size and tumor growth by enhancing apoptosis. Loss of the encoded protein results in cell proliferation and cancer formation. The encoded protein is also involved in the control of microtubule stability during cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53S34;Q9H3T5;Q9HAI0;Q9NVE2", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030295 protein kinase activator activity;GO:0043539 protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0035329 hippo signaling", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q9H8S9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N912-1", "uniprot_id": [ { "id": "NRAC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N912", "type": "external" } ], "mass": 18051.0, "length": 160, "protein_name": "Nutritionally-regulated adipose and cardiac enriched protein homolog", "gene_name": "C14orf180; NRAC", "organism": "Human", "refseq_name": "nutritionally-regulated adipose and cardiac enriched protein homolog isoform b", "refseq_ac": [ { "id": "NP_001008404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008404", "type": "external" } ], "gene_names_uniprotkb": "C14orf180; NRAC; C14orf180; C14orf77", "gene_names_refseq": "C14orf180; C14orf77; NRAC", "protein_names_uniprotkb": "Nutritionally-regulated adipose and cardiac enriched protein homolog", "protein_names_refseq": "nutritionally-regulated adipose and cardiac enriched protein homolog isoform b; nutritionally-regulated adipose and cardiac enriched protein homolog; transmembrane protein C14orf180", "tax_id": 9606, "disease": "", "pathway": " (hsa:400258)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;23029450;31844290;32488085;35051231", "class_list": "", "function": "Nrac is a nutritionally-regulated adipose and cardiac-enriched gene., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N912-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8M1-1", "uniprot_id": [ { "id": "CQ10B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8M1", "type": "external" } ], "mass": 27071.0, "length": 238, "protein_name": "Coenzyme Q-binding protein COQ10 homolog B, mitochondrial", "gene_name": "COQ10B", "organism": "Human", "refseq_name": "coenzyme Q-binding protein COQ10 homolog B, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001307747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307747", "type": "external" } ], "gene_names_uniprotkb": "COQ10B", "gene_names_refseq": "COQ10B", "protein_names_uniprotkb": "Coenzyme Q-binding protein COQ10 homolog B, mitochondrial", "protein_names_refseq": "coenzyme Q-binding protein COQ10 homolog B, mitochondrial isoform 2; coenzyme Q-binding protein COQ10 homolog B, mitochondrial; coenzyme Q10 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:80219); (R-HSA-611105); (R-HSA-9864848)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10327278;11237011;11695836;12231006;12837546;1327877;14741580;15250827;16230336;17033964;186667;19503089;20877624;22342701;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;239860;24397554;24403053;24715725;25564869;25926683;25959673;26154972;26321642;26375851;26811146;26992070;27600516;27693358;27846572;27920218;28082314;28199844;28330871;28832583;28904123;29154948;29242379;29393594;29557506;29632046;29632711;29786170;29789417;30059200;30315122;30779550;31154438;31217245;31536960;31844290;31848261;31998317;32102525;32265295;32317297;32357974;32375044;32827528;33592498;34969438;35204836;35750769;40596516;4288886;9843204;9878551", "class_list": "", "function": "Assessment of Serum CoQ10 Levels and other Antioxidant Markers in Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain., [RefSeq, PubMed]; Levels of Coenzyme Q10 and Several COQ Proteins in Human Astrocytoma Tissues Are Inversely Correlated with Malignancy. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1Y4", "ec_number_list": [], "go_molecular_function": "GO:0048039 ubiquinone binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9H8M1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UX04-1", "uniprot_id": [ { "id": "CWC27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UX04", "type": "external" } ], "mass": 53847.0, "length": 472, "protein_name": "Spliceosome-associated protein CWC27 homolog", "gene_name": "CWC27", "organism": "Human", "refseq_name": "spliceosome-associated protein CWC27 homolog isoform 2", "refseq_ac": [ { "id": "NP_001284573", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284573", "type": "external" } ], "gene_names_uniprotkb": "CWC27; PRO871; SDCCAG10", "gene_names_refseq": "CWC27; NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10", "protein_names_uniprotkb": "Spliceosome-associated protein CWC27 homolog; Antigen NY-CO-10; PPIase CWC27; Probable inactive peptidyl-prolyl cis-trans isomerase CWC27 homolog; Serologically defined colon cancer antigen 10", "protein_names_refseq": "CWC27 spliceosome associated protein homolog; PPIase CWC27; PPIase SDCCAG10; antigen NY-CO-10; peptidyl-prolyl cis-trans isomerase CWC27 homolog; peptidyl-prolyl cis-trans isomerase SDCCAG10; probable inactive peptidyl-prolyl cis-trans isomerase CWC27 homolog; serologically defined colon cancer antigen 10; spliceosome-associated protein CWC27 homolog isoform 2; spliceosome-associated protein CWC27 homolog", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584); metaphyseal chondrodysplasia-retinitis pigmentosa syndrome (MONDO:MONDO:0009598)", "pathway": " (hsa:10283); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 135, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11747608;11991638;12176931;12411573;12414731;12477934;12975309;14519844;14625303;14713954;14762106;15084397;16314458;16335952;16809785;17095540;17332742;17606899;17924679;18322460;18593880;19103666;19165350;19536130;20423332;20676357;20980672;21536652;2176635;21911577;22110043;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24448447;24737827;24914973;25478830;25555158;25576301;2558966;26092250;26385511;26420826;26969736;26992070;27108190;27206850;27377154;27459055;27600516;27683217;28062851;28076346;28228285;28285769;28502770;28781166;28832583;28834231;29242379;29301961;29360106;29361316;29393594;29493099;29557506;29632046;2963332;29902443;30315277;30379171;30429286;30484775;30599162;30705154;30728453;30765414;30975767;31154438;31409651;31530632;31844290;31848261;32157095;32179686;32265295;32329775;32488085;32494006;33177556;33243851;33298915;33392160;33446560;33509932;33717175;33912179;33968037;33981976;34019948;34301950;34822310;34932366;35051231;35215846;35318648;35385551;35580925;36284347;36718996;3757028;39990658;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9610721;9671485;9701291;9731529", "class_list": "", "function": "As part of the spliceosome, plays a role in pre-mRNA splicing (PubMed:29360106). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; As part of the spliceosome, plays a role in pre-mRNA splicing. Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; CWC27 overexpression is associated with Bladder Cancer., [RefSeq, PubMed]; Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature. Review article, [RefSeq, PubMed]; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides., [UniProtKB, UniProtKB]; Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes., [RefSeq, PubMed]; The crystal structure of a relatively protease-resistant N-terminal fragment of human Cwc27 containing the cyclophilin-type peptidyl-prolyl cis-trans isomerase domain was determined at 2.0 A resolution., [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": 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": 16, "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": "O60529;O60530;Q96EM3", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0071013 catalytic step 2 spliceosome;GO:0071005 U2-type precatalytic spliceosome;GO:0005634 nucleus", "go_biological_process": "GO:0006457 protein folding;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "Q6UX04-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48444-1", "uniprot_id": [ { "id": "COPD_HUMAN", "url": "https://www.uniprot.org/uniprot/P48444", "type": "external" } ], "mass": 57210.0, "length": 511, "protein_name": "Coatomer subunit delta", "gene_name": "ARCN1", "organism": "Human", "refseq_name": "coatomer subunit delta isoform 2", "refseq_ac": [ { "id": "NP_001135753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135753", "type": "external" } ], "gene_names_uniprotkb": "ARCN1; COPD", "gene_names_refseq": "ARCN1; COPD; SRMMD; SSMG", "protein_names_uniprotkb": "Coatomer subunit delta; Archain; Delta-COP; Delta-coat protein", "protein_names_refseq": "COPI coat complex subunit delta; archain vesicle transport protein 1; coatomer delta subunit; coatomer protein complex, subunit delta; coatomer protein delta-COP; coatomer subunit delta isoform 2; delta-coat protein", "tax_id": 9606, "disease": "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MONDO:MONDO:0014948)", "pathway": " (hsa:372); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 3, "publication_count": 233, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11172815;11237011;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12388752;12634853;14504276;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16408927;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17113389;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18182008;18283113;18287528;18524849;18809720;1898986;19015319;19109418;19151722;19164740;19296914;19369418;19415658;1957170;19608861;19631211;19758564;20005805;20068231;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21406692;21550981;21689688;21844168;21872626;21993680;22013193;22094269;22223895;22304919;22706990;22898188;23186163;23396477;23481700;23646949;23839779;24119662;24366607;24714562;24715725;24806965;25364732;25418920;25436559;25492864;25505266;25576301;25645385;25810538;25880248;25892735;26154972;26375851;26768311;26811146;26929215;26992070;27476655;27600516;27846572;27862975;27920218;28218747;28228285;28446606;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30397120;30410026;30524438;30779550;30833945;31154438;31217245;31222486;31373491;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33154040;33214551;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34405274;34509645;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37938771;38665916;40596516;40914422;7691276;7782067;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "Component of the coatomer, a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity)., [UniProtKB]; Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay. Publication Status: Online-Only, [RefSeq, PubMed]; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 7, "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": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4E1X2;E9PEU4;Q52M80", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0030133 transport vesicle", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0051645 Golgi localization;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 24.1, "record_id": "P48444-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P126-1", "uniprot_id": [ { "id": "CLC1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P126", "type": "external" } ], "mass": 26596.0, "length": 229, "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "organism": "Human", "refseq_name": "C-type lectin domain family 1 member B isoform b", "refseq_ac": [ { "id": "NP_001092901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092901", "type": "external" } ], "gene_names_uniprotkb": "CLEC1B; CLEC2; PRO1384", "gene_names_refseq": "1810061I13Rik; CLEC1B; CLEC2; PRO1384; QDED721", "protein_names_uniprotkb": "C-type lectin domain family 1 member B; C-type lectin-like receptor 2; CLEC-2", "protein_names_refseq": "C-type lectin domain family 1 member B isoform b; C-type lectin-like receptor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51266); (R-HSA-114604); (R-HSA-9707616)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10026222;10198158;10381560;10469124;10671229;11237011;11262396;11387216;11481033;12130498;12356737;12511571;12813055;12832405;12975309;15175654;15665827;15708849;15761026;16174766;16511244;16938345;16940507;17132623;17616532;18006707;18037887;18215137;18589439;1874735;18955485;19409513;19700402;19710360;19785988;19824697;19850008;20154219;20581824;20817722;21479263;22267732;22556408;2539258;25498018;25694214;27754849;28111073;2841328;28736554;31748741;31778548;32354867;32396849;32695117;33067967;3345742;37074911;38531221;7624799;8246984;8415693;8617742;8622974;8673706;8887638;8986718;8990121;9028946;9079689;9144434;9438848;9768361;9895304", "class_list": "glycogene", "function": "(Microbial infection) Acts as a receptor for the platelet-aggregating snake venom protein rhodocytin. Rhodocytin binding leads to tyrosine phosphorylation and this promotes the binding of spleen tyrosine kinase (SYK) and initiation of downstream tyrosine phosphorylation events and activation of PLCG2 (PubMed:16174766, PubMed:18955485)., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as an attachment factor for Human immunodeficiency virus type 1 (HIV-1) and facilitates its capture by platelets (PubMed:16940507)., [UniProtKB, PubMed]; C-type lectin-like receptor that serves as a platelet receptor for the lymphatic endothelial marker PDPN (PubMed:18215137). Plays an essential role in blood/lymphatic vessel separation and thrombus formation through homophilic association (PubMed:22556408). Acts as a negative regulator of lymphatic endothelial cell behavior by inhibiting proliferation, migration, and tube formation (PubMed:22556408). Upon ligand binding, triggers a signaling cascade via sequential activation of SRC and SYK tyrosine kinases, leading to activation of PLCG2 (PubMed:18955485). Through this pathway, mediates platelet adhesion, aggregation, and secretion in response to PDPN-expressing cells. During embryonic development, plays a central role in cerebrovascular formation and blood/lymphatic vessel separation. Interacts with PDPN on neuroepithelial cells to promote platelet activation, thereby ensuring maturation and integrity of cerebrovascular structures and preventing hemorrhage., [UniProtKB, PubMed, PubMed, PubMed]; Control of Platelet CLEC-2-Mediated Activation by Receptor Clustering and Tyrosine Kinase Signaling., [RefSeq, PubMed]; Endothelial CLEC-1b plays a protective role against cancer hematogenous metastasis., [RefSeq, PubMed]; Heme induces human and mouse platelet activation through C-type-lectin-like receptor-2. Publication Status: Online-Only, [RefSeq, PubMed]; Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011]., [RefSeq]; Platelets and cancer-associated thrombosis: focusing on the platelet activation receptor CLEC-2 and podoplanin. Review article, [RefSeq, PubMed]; Platelets capture and transfer infectious HIV-1 via DC-SIGN and CLEC-2, thereby possibly facilitating HIV-1 dissemination in infected patients, [RefSeq, PubMed]; X-ray diffraction analysis of human CLEC-2, [RefSeq, PubMed]; [Expression of Clec2 in Patients with Myelodysplastic Syndrome and Its Correlation with TPO]., [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": 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": 1, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 340, "reported_interactions": 0, "missing_score": 9606, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6UWX7;Q8NHR6", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0006952 defense response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0030220 platelet formation", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9P126-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000100010001.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVV7-1", "uniprot_id": [ { "id": "TIM21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVV7", "type": "external" } ], "mass": 28202.0, "length": 248, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim21", "gene_name": "TIMM21", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim21 precursor", "refseq_ac": [ { "id": "NP_054896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054896", "type": "external" } ], "gene_names_uniprotkb": "TIMM21; C18orf55; HSPC154; TIM21", "gene_names_refseq": "C18orf55; HSPC154; TIM21; TIMM21", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim21; TIM21-like protein, mitochondrial", "protein_names_refseq": "TIM21-like protein, mitochondrial; mitochondrial import inner membrane translocase subunit Tim21 precursor; mitochondrial import inner membrane translocase subunit Tim21; translocase of inner mitochondrial membrane 21 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:29090); (R-HSA-1268020); (R-HSA-9864848)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "11237011;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19503089;19767391;19962426;20593814;20877624;21750375;22342701;23041349;23125284;23260140;23345593;23597483;23746447;23811401;24403053;25315652;25576301;25880248;25926683;25959673;26154972;26321642;26697887;27693358;27846572;27920218;28082314;28199844;28330871;28514659;28832583;29154948;29237092;29242379;29493099;29557506;30315122;30379171;30429286;31536960;31844290;31848261;32157095;32161166;32317297;32357974;32375044;33912179;33968037;34969438;35051231;35561310;35750769;36241641;40596516;9843204", "class_list": "", "function": "Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Participates in the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Also required for assembly of mitochondrial respiratory chain complex I and complex IV as component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex. Probably shuttles between the presequence translocase and respiratory-chain assembly intermediates in a process that promotes incorporation of early nuclear-encoded subunits into these complexes., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; TIM21 is dispensable for protein import but required for integration of early-assembling, presequence-containing subunits into respiratory-chain intermediates., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9P010", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005744 TIM23 mitochondrial import inner membrane translocase complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0033617 mitochondrial respiratory chain complex IV assembly;GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9BVV7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6XLA1-1", "uniprot_id": [ { "id": "CSC2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6XLA1", "type": "external" } ], "mass": 11902.0, "length": 102, "protein_name": "Protein CASC2, isoform 3", "gene_name": "CASC2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CASC2; C10orf5", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein CASC2, isoform 3; Cancer susceptibility candidate gene 2 protein, isoform 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "15024726;17352238;39894887", "class_list": "", "function": "May act as a potential tumor suppressor., [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": 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": "D3DRC5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6XLA1-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5M9-1", "uniprot_id": [ { "id": "JAGN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5M9", "type": "external" } ], "mass": 21125.0, "length": 183, "protein_name": "Protein jagunal homolog 1", "gene_name": "JAGN1", "organism": "Human", "refseq_name": "protein jagunal homolog 1 isoform a", "refseq_ac": [ { "id": "NP_115881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115881", "type": "external" } ], "gene_names_uniprotkb": "JAGN1", "gene_names_refseq": "GL009; JAGN1; SCN6", "protein_names_uniprotkb": "Protein jagunal homolog 1", "protein_names_refseq": "protein jagunal homolog 1 isoform a; protein jagunal homolog 1", "tax_id": 9606, "disease": "severe congenital neutropenia 6 (Disease Ontology:DOID:0112134)", "pathway": " (hsa:84522)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;17389229;20068231;25129144;25129145;25892735;26154972;27452731;27846572;27893789;28228285;28510447;28904123;29393594;29437277;29493099;29632046;29769354;30410026;31217245;31844290;32265295;32387766;32783652;32930709;32938616;33206996;33298915;33633747;33912179;34357683;35051231;37120535", "class_list": "", "function": "A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans., [RefSeq, PubMed]; Data directly identify Jagn1 (JAGN1 in humans) as a new regulator of neutrophil function in microbial pathogenesis., [RefSeq, PubMed]; Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contributing to the viability and migration of neutrophils., [UniProtKB, PubMed]; JAGN1 mutation with distinct clinical features; two case reports and literature review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; JAGN1 participates in the secretory pathway and is required for granulocyte colony-stimulating factor receptor-mediated signaling. JAGN1 emerges as a factor that is necessary in the differentiation and survival of neutrophils., [RefSeq, PubMed]; JAGN1, tetraspanins, and Erv proteins: is common topology indicative of common function in cargo sorting? Erratum:[Am J Physiol Cell Physiol. 2021 Aug 1;321(2):C413. doi: 10.1152/ajpcell.00436.2019_COR. PMID: 34369817], [RefSeq, PubMed]; Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells., [RefSeq, PubMed]; The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NCF6;Q96SW1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0030223 neutrophil differentiation;GO:0015031 protein transport;GO:0002446 neutrophil mediated immunity;GO:0061179 negative regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q8N5M9-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2WGJ6-1", "uniprot_id": [ { "id": "KLH38_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2WGJ6", "type": "external" } ], "mass": 65541.0, "length": 581, "protein_name": "Kelch-like protein 38", "gene_name": "KLHL38", "organism": "Human", "refseq_name": "kelch-like protein 38", "refseq_ac": [ { "id": "NP_001075144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075144", "type": "external" } ], "gene_names_uniprotkb": "KLHL38; C8orfK36", "gene_names_refseq": "C8ORFK36; KLHL38", "protein_names_uniprotkb": "Kelch-like protein 38", "protein_names_refseq": "kelch-like 38; kelch-like protein 38", "tax_id": 9606, "disease": "", "pathway": " (hsa:340359)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "24715725;29242379;30379171;31092671;31154438;31848261;32157095;32983136;33141586;34050138;38253038", "class_list": "", "function": "KLHL38 involvement in non-small cell lung cancer progression via activation of the Akt 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": 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": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0PK12", "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": 1.6, "record_id": "Q2WGJ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYR2-1", "uniprot_id": [ { "id": "KRA45_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYR2", "type": "external" } ], "mass": 19363.0, "length": 181, "protein_name": "Keratin-associated protein 4-5", "gene_name": "KRTAP4-5", "organism": "Human", "refseq_name": "keratin-associated protein 4-5", "refseq_ac": [ { "id": "NP_149445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149445", "type": "external" } ], "gene_names_uniprotkb": "KRTAP4-5; KAP4.5; KRTAP4.5", "gene_names_refseq": "KAP4.5; KRTAP4-5; KRTAP4.5", "protein_names_uniprotkb": "Keratin-associated protein 4-5; Keratin-associated protein 4.5; Ultrahigh sulfur keratin-associated protein 4.5", "protein_names_refseq": "keratin-associated protein 4-5; keratin-associated protein 4.5; ultrahigh sulfur keratin-associated protein 4.5", "tax_id": 9606, "disease": "", "pathway": " (hsa:85289); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "11279113;15373777;15955084;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]; This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "GO:0042633 hair cycle", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BYR2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15273-1", "uniprot_id": [ { "id": "TELT_HUMAN", "url": "https://www.uniprot.org/uniprot/O15273", "type": "external" } ], "mass": 19052.0, "length": 167, "protein_name": "Telethonin", "gene_name": "TCAP", "organism": "Human", "refseq_name": "telethonin", "refseq_ac": [ { "id": "NP_003664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664", "type": "external" } ], "gene_names_uniprotkb": "TCAP", "gene_names_refseq": "CMD1N; CMH25; LGMD2G; LGMDR7; T-cap; TCAP; TELE; telethonin", "protein_names_uniprotkb": "Telethonin; Titin cap protein", "protein_names_refseq": "19 kDa sarcomeric protein; limb girdle muscular dystrophy 2G (autosomal recessive); telethonin; teneurin C-terminal associated peptide; titin cap protein", "tax_id": 9606, "disease": "autosomal recessive limb-girdle muscular dystrophy type 2G (Disease Ontology:DOID:0110281); hypertrophic cardiomyopathy 25 (Disease Ontology:DOID:0110328)", "pathway": " (hsa:8557); (R-HSA-390522)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10655062;10747208;10984498;11237011;11842093;12507422;15136035;15582318;16352453;16407954;16490376;16650785;16713295;18452278;24860983;32937135;35051231;37216648;37752589;9350988;9645487;9804419", "class_list": "", "function": "Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk., [UniProtKB, UniProtKB, UniProtKB]; Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]., [RefSeq]; TCAP gene is not a common cause of cardiomyopathy in Iranian patients. Publication Status: Online-Only, [RefSeq, PubMed]; The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96L27", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0030674 protein-macromolecule adaptor activity;GO:0044325 transmembrane transporter binding;GO:0008307 structural constituent of muscle;GO:0031432 titin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0031674 I band;GO:0030018 Z disc", "go_biological_process": "GO:0035995 detection of muscle stretch;GO:0003009 skeletal muscle contraction;GO:0030049 muscle filament sliding;GO:0030240 skeletal muscle thin filament assembly;GO:0003300 cardiac muscle hypertrophy", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O15273-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKF6-1", "uniprot_id": [ { "id": "CPSF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKF6", "type": "external" } ], "mass": 77486.0, "length": 684, "protein_name": "Cleavage and polyadenylation specificity factor subunit 3", "gene_name": "CPSF3", "organism": "Human", "refseq_name": "cleavage and polyadenylation specificity factor subunit 3 isoform a", "refseq_ac": [ { "id": "NP_057291", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057291", "type": "external" } ], "gene_names_uniprotkb": "CPSF3; CPSF73", "gene_names_refseq": "CPSF-73; CPSF3; CPSF73; NEDMHSN; NEDMHS", "protein_names_uniprotkb": "Cleavage and polyadenylation specificity factor subunit 3; 3.1.27.-; CPSF 73 kDa subunit; Cleavage and polyadenylation specificity factor 73 kDa subunit; mRNA 3'-end-processing endonuclease CPSF-73", "protein_names_refseq": "cleavage and polyadenylation specific factor 3, 73kDa; cleavage and polyadenylation specificity factor subunit 3 isoform a; cleavage and polyadenylation specificity factor subunit 3; mRNA 3'-end-processing endonuclease CPSF-73", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); Alzheimer's disease (Disease Ontology:DOID:10652); transient cerebral ischemia (Disease Ontology:DOID:224); acute myeloid leukemia (Disease Ontology:DOID:9119); neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures (MONDO:MONDO:0859250)", "pathway": " (hsa:51692); (R-HSA-159231); (R-HSA-72187); (R-HSA-73856); (R-HSA-77595); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 153, "publication_id_list": "10669729;11014198;11060040;11237011;11747608;11979277;12042320;12871933;14519844;14749727;14762106;15037765;15084397;15104674;15120988;15565158;15998806;16959974;17128255;17190602;17317185;17923699;17984224;18288197;18411249;18688255;18957205;19217410;19494120;19664994;19664995;19836239;20068231;2017161;20573985;20630994;20695905;20844015;21102410;21295486;21911577;21947206;22207203;22223895;22813749;22928037;22967762;23186163;23222130;23299939;23301498;23481700;23582887;23804756;23874216;24076191;24149845;24244187;24714562;24715725;25301780;25301781;25418920;25576301;25645385;25662211;25836925;25880248;26092250;26154972;26375851;26728094;26768311;26811146;26992070;27108190;27846572;28096519;28510447;28904123;28911096;29186539;29274231;29437277;29493099;29557506;29902443;30139799;30257008;30315122;30410026;30484775;30507380;30599162;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32816001;32897882;32938616;32983136;33141586;33177556;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34211107;34357683;34433824;34509645;34561969;34932366;35051231;35121750;35177536;35215846;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36822327;37938771;37992178;38191171;38665916;38718887;40914422;9659921", "class_list": "", "function": "An examination of the metal ion content in the active sites of human endonucleases CPSF73 and INTS11., [RefSeq, PubMed]; CPSF3 inhibition blocks pancreatic cancer cell proliferation through disruption of core histone mRNA processing. Publication Status: Online-Only, [RefSeq, PubMed]; CPSF3 regulates alternative polyadenylation of CNIH2 to promote esophageal squamous cell carcinoma progression., [RefSeq, PubMed]; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Has endonuclease activity, and functions as an mRNA 3'-end-processing endonuclease (PubMed:30507380). Also involved in the histone 3'-end pre-mRNA processing (PubMed:30507380). U7 snRNP-dependent protein that induces both the 3'-endoribonucleolytic cleavage of histone pre-mRNAs and acts as a 5' to 3' exonuclease for degrading the subsequent downstream cleavage product (DCP) of mature histone mRNAs. Cleavage occurs after the 5'-ACCCA-3' sequence in the histone pre-mRNA leaving a 3'hydroxyl group on the upstream fragment containing the stem loop (SL) and 5' phosphate on the downstream cleavage product (DCP) starting with CU nucleotides. The U7-dependent 5' to 3' exonuclease activity is processive and degrades the DCP RNA substrate even after complete removal of the U7-binding site. Binds to the downstream cleavage product (DCP) of histone pre-mRNAs and the cleaved DCP RNA substrate in a U7 snRNP dependent manner. Required for entering/progressing through S-phase of the cell cycle (PubMed:30507380). Required for the selective processing of microRNAs (miRNAs) during embryonic stem cell differentiation via its interaction with ISY1 (By similarity). Required for the biogenesis of all miRNAs from the pri-miR-17-92 primary transcript except miR-92a (By similarity). Only required for the biogenesis of miR-290 and miR-96 from the pri-miR-290-295 and pri-miR-96-183 primary transcripts, respectively (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Therapeutic targeting of CPSF3-dependent transcriptional termination in ovarian cancer., [RefSeq, PubMed]; This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 3, "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": "O14769;Q53RS2;Q96F36", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0004521 RNA endonuclease activity;GO:0004534 5'-3' RNA exonuclease activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:1990904 ribonucleoprotein complex;GO:0005847 mRNA cleavage and polyadenylation specificity factor complex", "go_biological_process": "GO:1900087 positive regulation of G1/S transition of mitotic cell cycle;GO:0006398 mRNA 3'-end processing by stem-loop binding and cleavage;GO:0031124 mRNA 3'-end processing;GO:0071045 nuclear histone mRNA catabolic process;GO:0180010 co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q9UKF6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15520-1", "uniprot_id": [ { "id": "FGF10_HUMAN", "url": "https://www.uniprot.org/uniprot/O15520", "type": "external" } ], "mass": 23436.0, "length": 208, "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "organism": "Human", "refseq_name": "fibroblast growth factor 10 precursor", "refseq_ac": [ { "id": "NP_004456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004456", "type": "external" } ], "gene_names_uniprotkb": "FGF10", "gene_names_refseq": "FGF10; LADD3", "protein_names_uniprotkb": "Fibroblast growth factor 10; FGF-10; Keratinocyte growth factor 2", "protein_names_refseq": "FGF-10; fibroblast growth factor 10 precursor; keratinocyte growth factor 2; produced by fibroblasts of urinary bladder lamina propria", "tax_id": 9606, "disease": "desquamative interstitial pneumonia (Disease Ontology:DOID:0050158); lacrimoauriculodentodigital syndrome 1 (Disease Ontology:DOID:0050331); developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); lacrimoauriculodentodigital syndrome 3 (Disease Ontology:DOID:0081372); aplasia of lacrimal and salivary glands (Disease Ontology:DOID:0111549); intestinal atresia (Disease Ontology:DOID:10486); hypospadias (Disease Ontology:DOID:10892); adult respiratory distress syndrome (Disease Ontology:DOID:11394); pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); cystic fibrosis (Disease Ontology:DOID:1485); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:2255); (R-HSA-109704); (R-HSA-1257604); (R-HSA-190370); (R-HSA-190377); (R-HSA-2033519); (R-HSA-210747); (R-HSA-2219530); (R-HSA-5654219); (R-HSA-5654221); (R-HSA-5654687); (R-HSA-5654688); (R-HSA-5654689); (R-HSA-5654693); (R-HSA-5654695); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654726); (R-HSA-5654727); (R-HSA-5655253); (R-HSA-5658623); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-9937080); (R-HSA-9938206)", "pathway_count": 25, "publication_count": 238, "publication_id_list": "10191262;10490103;10508167;10574949;10579907;10618369;10629055;10652257;10869344;10918587;11027663;11055896;11090077;11121055;11136978;11147812;11157491;11237011;11294897;11297579;11313946;11353842;11418238;11429702;11447289;11463336;11509569;11546808;11606067;11689702;11702783;11739186;11781872;11803464;11997436;12009017;12032311;12094235;12121613;12167717;12419216;12591959;12627230;12660731;12767043;12815057;12974390;1325671;1379698;1381348;14506247;14534538;14688794;14707138;15094036;15282208;15324302;15356145;15448205;1545823;15546878;15548653;15654336;15718470;15806171;15834429;15863029;15863030;16091734;16140923;16324873;16339315;16456541;16501574;16507368;1656221;16597617;16627759;16630169;16647110;16684964;16764984;16844695;16847462;16872596;1697263;1716764;17200115;17213838;17227708;17344846;17505008;17525745;17552943;17626883;17803937;17998941;18061161;18079394;18317450;18337450;18373495;18381441;18452557;18552176;18594509;18606717;18754654;18755892;18757403;18775330;18829560;18840094;1885605;18925875;18985070;1898771;19103595;19147536;19185485;19187780;19279408;19381019;19411071;19438505;19576174;19644473;19652666;19696444;19715689;19749790;19805105;19809159;19920134;19920141;19946327;19962665;20094046;20106510;20117945;20179196;20231295;20338997;20421966;20478380;20522708;20709759;20713702;21102635;21160078;21188471;21317208;21367659;21368164;21372320;21478295;21616146;21666749;21668414;21711248;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22432025;22569528;22588880;22589270;22750304;22802525;22802530;23103841;23112089;23303910;23443682;23575685;23640895;24026051;24897931;24937142;25219551;25781681;26085527;28778966;31135801;34755840;35051231;36183124;37077496;37369494;37956773;39247826;6148751;7543144;7559490;7637810;7647778;7719344;7744773;7773297;7809086;7935463;7972015;8052307;8264585;8394845;8493579;8622701;8645157;8657148;8663044;8665852;8710374;8755573;8780727;8798788;8939933;9045692;9182757;9287324;9299490;9438390;9480847;9502772;9539778;9604935;9632781;9660748;9700203;9730987;9736715;9857065;9895304;9927426", "class_list": "glycogene", "function": "FGF10 attenuates allergic airway inflammation in asthma by inhibiting PI3K/AKT/NF-kappaB pathway., [RefSeq, PubMed]; FGF10 promotes cardiac repair through a dual cellular mechanism increasing cardiomyocyte renewal and inhibiting fibrosis., [RefSeq, PubMed]; FGF10/FGFR2 Signaling: Therapeutically Targetable Vulnerability in Ligand-responsive Cholangiocarcinoma Cells., [RefSeq, PubMed]; FGF7 and FGF10 Promote Fate Transition of Human Epidermal Cell-derived Organoids to an Eccrine Gland Phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; Fibroblast growth factor 10 attenuates chronic obstructive pulmonary disease by protecting against glycocalyx impairment and endothelial apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing., [UniProtKB, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 355, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 19, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "C7FDY0;Q6FHR3;Q6FHT6;Q96P59", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0042056 chemoattractant activity;GO:0008083 growth factor activity;GO:0005111 type 2 fibroblast growth factor receptor binding;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0001525 angiogenesis;GO:0008284 positive regulation of cell population proliferation;GO:0032496 response to lipopolysaccharide;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 23.9, "record_id": "O15520-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7L8-1", "uniprot_id": [ { "id": "CK096_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7L8", "type": "external" } ], "mass": 13773.0, "length": 122, "protein_name": "Uncharacterized protein C11orf96", "gene_name": "C11orf96", "organism": "Human", "refseq_name": "uncharacterized protein C11orf96", "refseq_ac": [ { "id": "NP_001138505", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138505", "type": "external" } ], "gene_names_uniprotkb": "C11orf96; AG2", "gene_names_refseq": "AG2; C11orf96", "protein_names_uniprotkb": "Uncharacterized protein C11orf96; Protein Ag2 homolog", "protein_names_refseq": "protein Ag2 homolog; uncharacterized protein C11orf96", "tax_id": 9606, "disease": "", "pathway": " (hsa:387763)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "21406692;23186163;23301498;24275569;35538492", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WW59", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q7Z7L8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WW8-1", "uniprot_id": [ { "id": "COA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WW8", "type": "external" } ], "mass": 8376.0, "length": 74, "protein_name": "Cytochrome c oxidase assembly factor 5", "gene_name": "COA5", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly factor 5", "refseq_ac": [ { "id": "NP_001008216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008216", "type": "external" } ], "gene_names_uniprotkb": "COA5; C2orf64; PET191", "gene_names_refseq": "6330578E17Rik; C2orf64; CEMCOX3; COA5; MC4DN9; Pet191", "protein_names_uniprotkb": "Cytochrome c oxidase assembly factor 5", "protein_names_refseq": "cytochrome c oxidase assembly factor 5; protein C2orf64", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 9 (Disease Ontology:DOID:0080359)", "pathway": " (hsa:493753); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11237011;19503089;21457908;22342701;22356826;23125284;23186163;23260140;23345593;23746447;24403053;25926683;25959673;26321642;27693358;27920218;28082314;28199844;28330871;29154948;31536960;31844290;32317297;32375044;32938616;34969438;35750769;9843204", "class_list": "", "function": "Assembly factor for cytochrome c oxidase (respiratory chain complex IV) (PubMed:21457908, PubMed:35750769). Stabilizes an early formation of cytochrome c oxidase assembly factors, until it is displaced by the metallochaperone copper-delivery protein COX17 (PubMed:35750769)., [UniProtKB, PubMed, PubMed]; Assembly factor for cytochrome c oxidase (respiratory chain complex IV). Stabilizes an early formation of cytochrome c oxidase assembly factors, until it is displaced by the metallochaperone copper-delivery protein COX17., [UniProtKB, UniProtKB]; C2orf64 is essential for complex IV assembly, and C2orf64 mutational analysis should be considered for complex IV deficient patients, in particular those with hypertrophic cardiomyopathy, [RefSeq, PubMed]; Ortholog of fungal COX assembly protein PET191 Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q86WW8-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DZ5-1", "uniprot_id": [ { "id": "CLIP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DZ5", "type": "external" } ], "mass": 59560.0, "length": 547, "protein_name": "CAP-Gly domain-containing linker protein 3", "gene_name": "CLIP3", "organism": "Human", "refseq_name": "CAP-Gly domain-containing linker protein 3", "refseq_ac": [ { "id": "NP_001186499", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186499", "type": "external" } ], "gene_names_uniprotkb": "CLIP3; CLIPR59", "gene_names_refseq": "CLIP3; CLIPR-59; CLIPR59; RSNL1", "protein_names_uniprotkb": "CAP-Gly domain-containing linker protein 3; CLIP-170-related 59 kDa protein; CLIPR-59; Cytoplasmic linker protein 170-related 59 kDa protein", "protein_names_refseq": "CAP-Gly domain-containing linker protein 3; CLIP-170-related 59 kDa protein; cytoplasmic linker protein 170-related 59 kDa protein; restin-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25999); (R-HSA-5357905)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10521396;10837247;11098060;11181075;11237011;11427719;11577081;11854307;12167698;12709429;14716293;15024054;15258597;15262990;15870263;16682944;16829951;16829952;17314102;17702576;18178551;19139280;19278658;19289468;19416807;19910467;20052288;20185725;20219915;20230923;20304918;20385093;21235526;21408173;22179575;22297296;22435550;22848449;23313255;23746843;24001771;24098568;24246475;24323043;24726323;24726327;25565632;26198635;26344099;26900751;26997266;27307491;27458237;27545878;27552911;27591049;27600516;27613819;28506461;28832583;28882895;28920952;28920954;29242379;29557506;29642005;29786170;30146158;30361438;30420664;30429286;30988283;31154438;31366726;31511692;31844290;31848261;32157095;32320653;32488085;32938616;32983136;33469115;33592498;34162724;34171305;34363755;34488821;34876703;34932366;35051231;35580925;35941131;36284347;7531702;7667287;9049422;9065443", "class_list": "", "function": "CLIPR-59 may act as a typical chaperone, allowing a prompt interaction between tubulin and the raft component GD3 during cell apoptosis triggered by CD95/Fas Publication Status: Online-Only, [RefSeq, PubMed]; CLIPR-59 modulates ubiquitination of RIP1, resulting in the formation of Complex-II and thus promoting Caspase-8 activation to induce apoptosis by TNF-alpha. Publication Status: Online-Only, [RefSeq, PubMed]; CLIPR-59 prevents microtubule-raft interactions, [RefSeq, PubMed]; Downregulated CLIP3 induces radioresistance by enhancing stemness and glycolytic flux in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a cytoplasmic linker protein. Involved in TGN-endosome dynamics. May modulate the cellular compartmentalization of AKT kinase family and promote its cell membrane localization, thereby playing a role in glucose transport in adipocytes., [UniProtKB, PubMed]; Play an important role in membrane-microtubule interactions., [RefSeq, PubMed]; This gene encodes a member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein glycine-rich domain and mediate the interaction of microtubules with cellular organelles. The encoded protein plays a role in T cell apoptosis by facilitating the association of tubulin and the lipid raft ganglioside GD3. The encoded protein also functions as a scaffold protein mediating membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; This study indicates that inhibition of miRNA-593-3p by insulin promotes glucose metabolism through the regulation of Slc38a1 and CLIP3 expression, and provides a new insight into the role and mechanism of insulin-induced glycolysis., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 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": "A8K0E4;Q8WWL1;Q96C99;Q9UFT7", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0051010 microtubule plus-end binding;GO:0035594 ganglioside binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0098840 protein transport along microtubule;GO:0001934 positive regulation of protein phosphorylation;GO:0043065 positive regulation of apoptotic process;GO:1903078 positive regulation of protein localization to plasma membrane;GO:0045444 fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q96DZ5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17RA5-1", "uniprot_id": [ { "id": "CMAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17RA5", "type": "external" } ], "mass": 8913.0, "length": 79, "protein_name": "Putative uncharacterized protein EPCIP-AS1", "gene_name": "EPCIP-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "EPCIP-AS1; C21orf49; C21orf62-AS1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein EPCIP-AS1; C21orf62 antisense RNA 1; C21orf62 antisense gene protein 1; EPCIP antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q17RA5-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q495D7-1", "uniprot_id": [ { "id": "CL036_HUMAN", "url": "https://www.uniprot.org/uniprot/Q495D7", "type": "external" } ], "mass": 15996.0, "length": 138, "protein_name": "Putative uncharacterized protein encoded by LINC01559", "gene_name": "LINC01559", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01559; C12orf36", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC01559", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "29557506;30379171", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N280", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q495D7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53SF7-4", "uniprot_id": [ { "id": "COBL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53SF7", "type": "external" } ], "mass": 123868.0, "length": 1128, "protein_name": "Cordon-bleu protein-like 1", "gene_name": "COBLL1", "organism": "Human", "refseq_name": "cordon-bleu protein-like 1 isoform 1", "refseq_ac": [ { "id": "NP_001265387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265387", "type": "external" } ], "gene_names_uniprotkb": "COBLL1; KIAA0977", "gene_names_refseq": "COBLL1; COBLR1", "protein_names_uniprotkb": "Cordon-bleu protein-like 1", "protein_names_refseq": "COBL-like 1; cordon-bleu protein-like 1 isoform 1; cordon-bleu protein-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:22837)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "16964243;18669648;19401544;20068231;23186163;24275569;25548167;29557506;29786170;31844290;32157095;32938616;32983136;33691108;33968037;34087483;34171305;35051231;35318648;35561310;35580925;35955692;36284347;36493769;36835164;37253881", "class_list": "", "function": "A non-coding variant linked to metabolic obesity with normal weight affects actin remodelling in subcutaneous adipocytes., [RefSeq, PubMed]; Gene-Nutrient Interactions in Obesity: COBLL1 Genetic Variants Interact with Dietary Fat Intake to Modulate the Incidence of Obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes., [RefSeq, PubMed]; 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 gene ratio test with the COBLL1/ARHGDIA genes for survival of patients with malignant pleural mesothelioma has robust predictive value., [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": 28, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NMZ3;Q6IQ33;Q7Z3I6;Q9BRH4;Q9UG88;Q9Y2I3", "ec_number_list": [], "go_molecular_function": "GO:0003785 actin monomer binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005938 cell cortex;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q53SF7-4", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5EBM0-1", "uniprot_id": [ { "id": "CMPK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5EBM0", "type": "external" } ], "mass": 49448.0, "length": 449, "protein_name": "UMP-CMP kinase 2, mitochondrial", "gene_name": "CMPK2", "organism": "Human", "refseq_name": "UMP-CMP kinase 2, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001243406", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243406", "type": "external" } ], "gene_names_uniprotkb": "CMPK2", "gene_names_refseq": "CMPK2; IBGC10; NDK; TMPK2; TYKi; UMP-CMPK2", "protein_names_uniprotkb": "UMP-CMP kinase 2, mitochondrial; 2.7.4.14; 2.7.4.6; Nucleoside-diphosphate kinase", "protein_names_refseq": "UMP-CMP kinase 2, mitochondrial isoform 2 precursor; UMP-CMP kinase 2, mitochondrial; UMP/CMP kinase; cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial; cytidylate kinase 2; mitochondrial UMP-CMP kinase; nucleoside-diphosphate kinase; thymidine monophosphate kinase 2; thymidylate kinase family LPS-inducible member", "tax_id": 9606, "disease": "multiple sclerosis (Disease Ontology:DOID:2377); basal ganglia calcification, idiopathic, 10, autosomal recessive (MONDO:MONDO:0975875)", "pathway": " (hsa:129607)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "17999954;18498354;23416111;23481700;24715725;25505266;27920218;28904123;30083606;30429286;30833945;31844290;32488085;32938616;33141586;33298915;33392160;33874983;33912179;34087483;34142025;35051231;35580925;36284347;36443312;36451821;36930652;37075076;38701781", "class_list": "", "function": "A human mitochondrial UMP-CMP kinase (UMP-CMPK, cytidylate kinase; EC 2.7.4.14), designated as UMP-CMP kinase 2 (UMP-CMPK2), is identified., [RefSeq, PubMed]; CMPK2 restricts Zika virus replication by inhibiting viral translation. Publication Status: Online-Only, [RefSeq, PubMed]; Microglial CMPK2 promotes neuroinflammation and brain injury after ischemic stroke., [RefSeq, PubMed]; Mitochondrial nucleotide monophosphate kinase needed for salvage dNTP synthesis that mediates immunomodulatory and antiviral activities through IFN-dependent and IFN-independent pathways (PubMed:17999954, PubMed:30083606, PubMed:36930652, PubMed:37075076). Restricts the replication of multiple viruses including flaviviruses or coronaviruses (PubMed:30083606, PubMed:36930652, PubMed:37075076). Together with viperin/RSAD2 and ddhCTP, suppresses the replication of several coronaviruses through inhibition of the viral RNA-dependent RNA polymerase activities (PubMed:36930652). Concerning flaviviruses, restricts RNA translation when localized to the mitochondria independently of its kinase activity (PubMed:37075076). Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP while CMP and UMP are poor substrates. Controls therefore mitochondrial DNA synthesis by supplying required deoxyribonucleotides (By similarity). CMPK2-dependent mitochondrial DNA synthesis is necessary for the production of oxidized mitochondrial DNA fragments after exposure to NLRP3 activators (By similarity). In turn, cytosolic oxidized mtDNA associates with the NLRP3 inflammasome complex and is required for its activation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Mitochondrial protein CMPK2 regulates IFN alpha-enhanced foam cell formation, potentially contributing to premature atherosclerosis in SLE. Publication Status: Online-Only, [RefSeq, PubMed]; The mitochondrial gene-CMPK2 functions as a rheostat for macrophage homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]., [RefSeq]; Upregulated in monocyte/macrophage differentiating cells, suggesting coordinated regulation with the terminal differentiation program., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "A2RUB0;A5D8T2;B7ZM18;Q6ZRU2;Q96AL8", "ec_number_list": [ { "id": "2.7.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.10", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" }, { "id": "2.7.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.4", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.13.3", "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": "2.7.4.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.14", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004798 dTMP kinase activity;GO:0004550 nucleoside diphosphate kinase activity;GO:0033862 UMP kinase activity;GO:0036430 CMP kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0006233 dTDP biosynthetic process;GO:0006227 dUDP biosynthetic process;GO:0006235 dTTP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q5EBM0-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5RI15-1", "uniprot_id": [ { "id": "COX20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5RI15", "type": "external" } ], "mass": 13291.0, "length": 118, "protein_name": "Cytochrome c oxidase assembly protein COX20, mitochondrial", "gene_name": "COX20", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly protein COX20, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_001299800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299800", "type": "external" } ], "gene_names_uniprotkb": "COX20; FAM36A", "gene_names_refseq": "COX20; FAM36A; MC4DN11", "protein_names_uniprotkb": "Cytochrome c oxidase assembly protein COX20, mitochondrial", "protein_names_refseq": "COX20 Cox2 chaperone homolog; COX20, cytochrome c oxidase assembly factor; cytochrome c oxidase assembly protein COX20, mitochondrial isoform 1; cytochrome c oxidase assembly protein COX20, mitochondrial; cytochrome c oxidase protein 20 homolog; family with sequence similarity 36, member A", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 11 (Disease Ontology:DOID:0070497)", "pathway": " (hsa:116228); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "19503089;22223895;22342701;22356826;22678713;23125284;23260140;23345593;23746447;24202787;24403053;25926683;25959673;26321642;27693358;28082314;28199844;28330871;29154948;29557506;30444036;31079202;31536960;31844290;32317297;32375044;32938616;33298915;33717175;33751098;34171305;34969438;35051231;35750769;37095481;9843204", "class_list": "", "function": "Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy., [RefSeq, PubMed]; COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase., [RefSeq, PubMed]; COX20 mutation are associated with autosomal recessive axonal neuropathy and static encephalopathy., [RefSeq, PubMed]; Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:23125284). Acts as a chaperone in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation, stabilizing the newly synthesized protein and presenting it to metallochaperones SCO1/2 which in turn facilitates the incorporation of the mature MT-CO2/COX2 into the assembling CIV holoenzyme (PubMed:24403053)., [UniProtKB, PubMed, PubMed]; The function of the human gene FAM36A/COX20 in complex IV assembly and role of the gene in complex IV deficiency., [RefSeq, PubMed]; These results suggest that HNRNPU, FAM36A, and NCRNA00201 are not major genes for microcephaly and corpus callosum abnormalities but are good candidates for intellectual disability (ID) and seizures., [RefSeq, PubMed]; This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]., [RefSeq]; This study deministrated that phenotypic spectrum of mutation in COX20 to a recessively inherited, early-onset dystonia-ataxia syndrome that is characterized by reduced complex IV activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q8WV86", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q5RI15-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXZ3-1", "uniprot_id": [ { "id": "CLM5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXZ3", "type": "external" } ], "mass": 21558.0, "length": 194, "protein_name": "CMRF35-like molecule 5", "gene_name": "CD300LD", "organism": "Human", "refseq_name": "CMRF35-like molecule 5 precursor", "refseq_ac": [ { "id": "NP_001108624", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108624", "type": "external" } ], "gene_names_uniprotkb": "CD300LD; CD300D; CMRF35A4; PRO28686", "gene_names_refseq": "CD300D; CD300LD; CLM-4; CLM-5; CMRF35-A4; CMRF35A4", "protein_names_uniprotkb": "CMRF35-like molecule 5; CD300 antigen-like family member D; CLM-5; CMRF35-A4", "protein_names_refseq": "CD300 antigen-like family member D; CMRF35-like molecule 4; CMRF35-like molecule 5 precursor; CMRF35-like molecule 5; immune receptor CD300d", "tax_id": 9606, "disease": "", "pathway": " (hsa:100131439); (R-HSA-198933)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12975309;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22291008;22396535;23072861;23695528;23929856;24305946;25703557;25716998;26284469;26300885;35051231;35580925;37674079;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "CD300 molecules are all expressed by DC; CD300b, d, e and f are restricted to different subpopulations of the myeloid DC lineage. They have been shown to regulate DC function both in vitro and in vivo. Review article, [RefSeq, PubMed]; CD300ld on neutrophils is required for tumour-driven immune suppression., [RefSeq, PubMed]; The function of CD300d would be related to the regulation of the expression of other CD300 molecules and the composition of CD300 complexes on the cell surface., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002757 immune response-activating signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q6UXZ3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4L0-1", "uniprot_id": [ { "id": "COX8C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4L0", "type": "external" } ], "mass": 8129.0, "length": 72, "protein_name": "Cytochrome c oxidase subunit 8C, mitochondrial", "gene_name": "COX8C", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 8C, mitochondrial", "refseq_ac": [ { "id": "NP_892016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_892016", "type": "external" } ], "gene_names_uniprotkb": "COX8C", "gene_names_refseq": "COX8-3; COX8C", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 8C, mitochondrial; COX VIII-3; COX8-3; Cytochrome c oxidase polypeptide 8 isoform 3; Cytochrome c oxidase polypeptide VIII isoform 3; Cytochrome c oxidase subunit 8-3; Cytochrome c oxidase subunit VIIIC", "protein_names_refseq": "COX VIII-3; cytochrome c oxidase polypeptide 8; cytochrome c oxidase polypeptide VIII; cytochrome c oxidase subunit 8-3; cytochrome c oxidase subunit 8C, mitochondrial; cytochrome c oxidase subunit VIIIC; cytochrome c oxidase subunit VIII", "tax_id": 9606, "disease": "", "pathway": " (hsa:341947); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 111, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11029283;11034341;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12909344;12969439;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;18198340;18344994;186667;18692468;19113821;19439913;19487573;19503089;19690164;19822145;19968714;20080666;20182617;20351271;20378837;20877624;20929863;21750704;21958598;22342701;22363791;22427940;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24715725;24718924;25564869;25579166;25926683;25959673;26321642;26652033;27693358;28082314;28199844;28330871;28698372;29154948;31536960;32317297;32375044;3427020;3475708;34969438;35750769;4288886;5666113;6094553;7979252;7989588;8119488;9843204;9878551;9926927", "class_list": "", "function": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q495K7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0006123 mitochondrial electron transport, cytochrome c to oxygen", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q7Z4L0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TU6-1", "uniprot_id": [ { "id": "CN070_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TU6", "type": "external" } ], "mass": 12089.0, "length": 105, "protein_name": "Putative uncharacterized protein encoded by LINC00523", "gene_name": "LINC00523", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00523; C14orf70", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00523", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "27893789;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": "A2RUP4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q86TU6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86U02-1", "uniprot_id": [ { "id": "CN165_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86U02", "type": "external" } ], "mass": 13541.0, "length": 117, "protein_name": "Putative uncharacterized protein encoded by LINC00596", "gene_name": "LINC00596", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00596; C14orf165", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00596", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q86U02-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXQ3-1", "uniprot_id": [ { "id": "CI040_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXQ3", "type": "external" } ], "mass": 21063.0, "length": 194, "protein_name": "Uncharacterized protein C9orf40", "gene_name": "C9orf40", "organism": "Human", "refseq_name": "uncharacterized protein C9orf40", "refseq_ac": [ { "id": "NP_060468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060468", "type": "external" } ], "gene_names_uniprotkb": "C9orf40", "gene_names_refseq": "C9orf40", "protein_names_uniprotkb": "Uncharacterized protein C9orf40", "protein_names_refseq": "uncharacterized protein C9orf40", "tax_id": 9606, "disease": "", "pathway": " (hsa:55071)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "17081983;17322306;18452278;18669648;18691976;19413330;19664994;19690332;20068231;23186163;24275569;25576301;26992070;27920218;28228285;28514659;28832583;28834231;29242379;29557506;29632046;30315122;31092671;31844290;32157095;32161166;33691108;33968037;34171305", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NWD3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8IXQ3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYA6-1", "uniprot_id": [ { "id": "CKP2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYA6", "type": "external" } ], "mass": 83587.0, "length": 745, "protein_name": "Cytoskeleton-associated protein 2-like", "gene_name": "CKAP2L", "organism": "Human", "refseq_name": "cytoskeleton-associated protein 2-like isoform 2", "refseq_ac": [ { "id": "NP_001291290", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291290", "type": "external" } ], "gene_names_uniprotkb": "CKAP2L", "gene_names_refseq": "CKAP2L", "protein_names_uniprotkb": "Cytoskeleton-associated protein 2-like; Radial fiber and mitotic spindle protein; Radmis", "protein_names_refseq": "cytoskeleton associated protein 2 like; cytoskeleton-associated protein 2-like isoform 2; radial fiber and mitotic spindle protein; radmis", "tax_id": 9606, "disease": "Filippi syndrome (Disease Ontology:DOID:0112194)", "pathway": " (hsa:150468)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16565220;18669648;19691289;20068231;20388717;20468071;23186163;24260314;24714562;24715725;25439729;25576301;25645385;26728094;26992070;27600516;27846572;28228285;28514659;28832583;28834231;29237092;29242379;29393594;29557506;29632046;29769354;30315122;30379171;30484775;30524438;30833945;31217245;31530632;31844290;32130760;32157095;32161166;32265295;32488085;32502341;32897882;32938616;33298915;33592498;33717175;33968037;34171305;35051231;35715760;36581221;37217939;37225919;37665628;39894887", "class_list": "", "function": "CKAP2L, a crucial target of miR-326, promotes prostate cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Development and validation of hub genes for lymph node metastasis in patients with prostate cancer., [RefSeq, PubMed]; IGF2BP2 promotes ovarian cancer growth and metastasis by upregulating CKAP2L protein expression in an m[6] A-dependent manner., [RefSeq, PubMed]; Loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome., [RefSeq, PubMed]; Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pan-cancer analysis reveals the prognostic and immunotherapeutic value of cytoskeleton-associated protein 2-like. Publication Status: Online-Only, [RefSeq, PubMed]; Radmis, the mouse ortholog of human CKAP2L, is important to mitotic spindle formation and cell-cycle progression of neural stem/neural progenitor cells in mouse. It is abundantly expressed in stem cells, but is down-regulated during differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K915;B4DZE3;B7ZAC6;F5H0M5;Q53QF8;Q53RS8;Q8N1J8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0072686 mitotic spindle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q8IYA6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8G6-1", "uniprot_id": [ { "id": "CO054_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8G6", "type": "external" } ], "mass": 21040.0, "length": 183, "protein_name": "Putative uncharacterized protein encoded by LINC02915", "gene_name": "LINC02915", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC02915; C15orf54", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC02915", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "24715725;26154972;28832583;29557506;31222486;31844290;35494241", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZVZ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8N8G6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCR9-1", "uniprot_id": [ { "id": "CLRN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCR9", "type": "external" } ], "mass": 25321.0, "length": 226, "protein_name": "Clarin-3", "gene_name": "CLRN3", "organism": "Human", "refseq_name": "clarin-3", "refseq_ac": [ { "id": "NP_689524", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689524", "type": "external" } ], "gene_names_uniprotkb": "CLRN3; TMEM12; USH3AL1", "gene_names_refseq": "CLRN3; TMEM12; USH3AL1", "protein_names_uniprotkb": "Clarin-3; Transmembrane protein 12; Usher syndrome type-3A-like protein 1", "protein_names_refseq": "clarin-3; transmembrane protein 12; usher syndrome type-3A-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:119467)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "16385451;18452278;22658654;23033978;31217245", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The SNP rs6482992 in the CLRN3 gene had the smallest p value in analyses of the cognitive outcome., [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": 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": "Q6MZX8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NCR9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXQ3-1", "uniprot_id": [ { "id": "CN183_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXQ3", "type": "external" } ], "mass": 35482.0, "length": 324, "protein_name": "Putative uncharacterized protein encoded by LINC01599", "gene_name": "LINC01599", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01599; C14orf183", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC01599", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8WXQ3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WYK1-1", "uniprot_id": [ { "id": "CNTP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WYK1", "type": "external" } ], "mass": 145623.0, "length": 1306, "protein_name": "Contactin-associated protein-like 5", "gene_name": "CNTNAP5", "organism": "Human", "refseq_name": "contactin-associated protein-like 5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_570129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570129", "type": "external" } ], "gene_names_uniprotkb": "CNTNAP5; CASPR5", "gene_names_refseq": "CNTNAP5; caspr5", "protein_names_uniprotkb": "Contactin-associated protein-like 5; Cell recognition molecule Caspr5", "protein_names_refseq": "cell recognition molecule Caspr5; contactin associated protein like 5; contactin-associated protein-like 5 isoform 1 precursor", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal recessive intellectual developmental disorder (Disease Ontology:DOID:0060308)", "pathway": " (hsa:129684)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;19721433;20346443;24715725;26993346;28649982;30722798;31844290;32329157;33737499;35051231;36010968", "class_list": "", "function": "A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder., [RefSeq, PubMed]; Data suggest that rare variants in CNTNAP5 may confer autism spectrum disorder (ASD) susceptibility. Genomic disruption of both DOCK4 and CNTNAP5 genes may have an additive effect and may result in a more severe ASD phenotype. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Haplotype-based genomic analysis reveals novel association of CNTNAP5 genic region with primary angle closure glaucoma., [RefSeq, PubMed]; May play a role in the correct development and proper functioning of the peripheral and central nervous system and be involved in cell adhesion and intercellular communication., [UniProtKB, UniProtKB, UniProtKB]; Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This exploratory genome-wide association studies confirmed APOE and identified three novel loci: rs76854344 near CNTNAP5 (P = 8 x 10(-10) OR = 1.9 [1.5-2.3])., [RefSeq, PubMed]; This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 127, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZFW2;Q4ZG21;Q53R09;Q53RX1;Q53SG3;Q584P3;Q96MS7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0001650 fibrillar center;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8WYK1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S95-1", "uniprot_id": [ { "id": "CK2N2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S95", "type": "external" } ], "mass": 8658.0, "length": 79, "protein_name": "Calcium/calmodulin-dependent protein kinase II inhibitor 2", "gene_name": "CAMK2N2", "organism": "Human", "refseq_name": "calcium/calmodulin-dependent protein kinase II inhibitor 2", "refseq_ac": [ { "id": "NP_150284", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150284", "type": "external" } ], "gene_names_uniprotkb": "CAMK2N2", "gene_names_refseq": "CAM-KIIN; CAMK2N2; CAMKIIN", "protein_names_uniprotkb": "Calcium/calmodulin-dependent protein kinase II inhibitor 2; CaM-KII inhibitory protein; CaM-KIIN", "protein_names_refseq": "CaM-KII inhibitory protein; calcium/calmodulin-dependent protein kinase II inhibitor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:94032)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11444830;20487031;23153928;23545117;25418920;29485866;29632046;30315122;9724800", "class_list": "", "function": "Functional study of the rat homolog, [RefSeq, PubMed]; Murine double minute 2 (MDM2) protein levels were decreased in AD cells relative to control lymphoblasts, suggesting an impairment of FOXO3a degradation., [RefSeq, PubMed]; Mutant FUS-DeltaNLS increased calcium/calmodulin-dependent protein kinase II inhibitor 2 (CAMK2N2) at both mRNA and protein levels., [RefSeq, PubMed]; Potent and specific cellular inhibitor of CaM-kinase II (CAMK2) (PubMed:11444830). Traps Ca(2+)/calmodulin on CAMK2 (By similarity)., [UniProtKB, PubMed, UniProtKB]; This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008]., [RefSeq]; We show that CaMKII N beta expression is differentially regulated by novelty and contextual fear conditioning, providing further insight into molecular basis of fear LTM., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0008427 calcium-dependent protein kinase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0045202 synapse", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96S95-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4W6-1", "uniprot_id": [ { "id": "COE3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4W6", "type": "external" } ], "mass": 64864.0, "length": 596, "protein_name": "Transcription factor COE3", "gene_name": "EBF3", "organism": "Human", "refseq_name": "transcription factor COE3 isoform 6", "refseq_ac": [ { "id": "NP_001005463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005463", "type": "external" } ], "gene_names_uniprotkb": "EBF3; COE3", "gene_names_refseq": "COE3; EBF-3; EBF3; HADDS; O/E-2; OE-2", "protein_names_uniprotkb": "Transcription factor COE3; EBF-3; Early B-cell factor 3; O/E-2; OE-2; Olf-1/EBF-like 2", "protein_names_refseq": "Collier, Olf and EBF transcription factor 3; early B cell factor 3; olf-1/EBF-like 2; transcription factor COE3 isoform 6; transcription factor COE3", "tax_id": 9606, "disease": "hypotonia, ataxia, and delayed development syndrome (Disease Ontology:DOID:0081176)", "pathway": " (hsa:253738)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;12355068;17018599;18559491;18845077;20592035;21387304;27846572;28017370;28017372;28017373;28904123;31530632;31844290;31848261;32357974;33592498;33633747;33717175;34999443;35340043;38479556;39894887", "class_list": "", "function": "An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain., [RefSeq, PubMed]; Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype., [RefSeq, PubMed]; EBF3 tumor suppressor is epigenetically silenced and that it serves as an independent prognostic marker in gastric carcinoma., [RefSeq, PubMed]; Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through directly regulating contactin-associated protein-like 4 (CNTNAP4) transcription: An experimental study., [RefSeq, PubMed]; Expression of EBF3 resulted in cell cycle arrest and apoptosis. EBF3 regulates a transcriptional program underlying a putative tumor suppression pathway., [RefSeq, PubMed]; Findings suggested that the transfection of EBF3 gene into HepG2 induced the cell proliferation from G1 phase to G2 phase by increasing the number of cells., [RefSeq, PubMed]; Frequent methylation of EBF3 gene is associated with head and neck squamous cell carcinoma, [RefSeq, PubMed]; This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]., [RefSeq]; Transcriptional activator (PubMed:28017370, PubMed:28017372, PubMed:28017373). Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Transcriptional activator. Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AUY1;Q5T6H9;Q9H4W5", "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_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9H4W6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSA3-1", "uniprot_id": [ { "id": "CNBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSA3", "type": "external" } ], "mass": 9170.0, "length": 81, "protein_name": "Beta-catenin-interacting protein 1", "gene_name": "CTNNBIP1", "organism": "Human", "refseq_name": "beta-catenin-interacting protein 1", "refseq_ac": [ { "id": "NP_001012329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012329", "type": "external" } ], "gene_names_uniprotkb": "CTNNBIP1; ICAT", "gene_names_refseq": "CTNNBIP1; ICAT", "protein_names_uniprotkb": "Beta-catenin-interacting protein 1; Inhibitor of beta-catenin and Tcf-4", "protein_names_refseq": "beta-catenin-interacting protein 1; beta-catenin-interacting protein ICAT; inhibitor of beta-catenin and Tcf-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:56998); (R-HSA-3769402)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10.1101/2023.09.13.557529;10549281;10898789;10921920;10944533;11691915;12068170;12124804;12182422;12408824;12408825;12712206;14600025;14685266;15132997;15327769;15525529;16510874;17218525;17412698;17698607;17875931;18378692;18456656;18573912;18598779;18819930;19047045;19364920;19590513;19928349;19940019;22304967;24291232;24714562;25880248;26992070;27600516;27862975;28228285;28832583;28834231;28904123;29493099;29557506;29632711;29786170;30192525;30429286;30779550;30833945;31222486;31844290;31848261;32157095;32502341;32897882;32938616;32983136;33717175;33981976;34087483;34171305;34357683;34569368;34932366;35051231;35561310;35580925;35984200;36010968;36036768;36284347;36738224;37938771", "class_list": "", "function": "Expression level and prognostic potential of beta-catenin-interacting protein in acute myeloid leukemia., [RefSeq, PubMed]; ICAT promotes colorectal cancer metastasis via binding to JUP and activating the NF-kappaB signaling pathway., [RefSeq, PubMed]; LINC00355 Mediates CTNNBIP1 Promoter Methylation and Promotes Endoplasmic Reticulum Stress-Induced Podocyte Injury in Diabetic Nephropathy., [RefSeq, PubMed]; Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC., [RefSeq, PubMed]; Overexpression of ICAT Inhibits the Progression of Colorectal Cancer by Binding with beta-Catenin in the Cytoplasm., [RefSeq, PubMed]; Presentation of medulloblastoma in two siblings (one of each sex) and their great-uncle; immunostaining for gene products in medulloblastoma differed in the two siblings for beta-catenin and was similar with staining for gli. Review article, [RefSeq, PubMed]; Prevents the interaction between CTNNB1 and TCF family members, and acts as a negative regulator of the Wnt signaling pathway., [UniProtKB, PubMed]; Stimulation of beta-catenin and suppression of gamma-catenin expression, occur within endometrial carcinomas with squamous differentiation, [RefSeq, PubMed]; The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 2, "reported_interactions": 0, "missing_score": 9606, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T4V2", "ec_number_list": [], "go_molecular_function": "GO:0008013 beta-catenin binding;GO:0001223 transcription coactivator binding;GO:0070016 armadillo repeat domain binding;GO:0140416 transcription regulator inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030877 beta-catenin destruction complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0045657 positive regulation of monocyte differentiation;GO:0031333 negative regulation of protein-containing complex assembly;GO:0030178 negative regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9NSA3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXG0-1", "uniprot_id": [ { "id": "CNTLN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXG0", "type": "external" } ], "mass": 161571.0, "length": 1405, "protein_name": "Centlein", "gene_name": "CNTLN", "organism": "Human", "refseq_name": "centlein isoform 2", "refseq_ac": [ { "id": "NP_001107867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107867", "type": "external" } ], "gene_names_uniprotkb": "CNTLN; C9orf101; C9orf39", "gene_names_refseq": "C9orf101; C9orf39; CNTLN; bA340N12.1", "protein_names_uniprotkb": "Centlein; Centrosomal protein", "protein_names_refseq": "centlein isoform 2; centlein, centrosomal protein; centrosomal protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54875)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "22940680;23186163;24554434;26915804;28832583;28834231;29242379;29557506;29786170;30379171;30429286;31217245;31844290;32157095;32350084;32387766;32502341;32938616;32983136;33592498;33691108;33981976;35051231;36010968", "class_list": "", "function": "Centlein complexes with C-Nap1 and Cep68 at the proximal ends of centrioles during interphase., [RefSeq, PubMed]; Identified a SNP (rs894379) in the intronic region of the centlein, centrosomal protein (CNTLN) gene on chromosome 9p22, whose minor allele G is associated with an increased left ventricular mass, [RefSeq, PubMed]; Required for centrosome cohesion and recruitment of CEP68 to centrosomes., [UniProtKB, PubMed]; Taken together, we propose that centlein is involved in MT stability and neuritogenesis 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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A5Z2X6;Q5VYJ0;Q8N1G9;Q9HAJ5", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0019904 protein domain specific binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0070062 extracellular exosome;GO:0005814 centriole;GO:0120212 sperm head-tail coupling apparatus", "go_biological_process": "GO:0010457 centriole-centriole cohesion", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9NXG0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYJ1-1", "uniprot_id": [ { "id": "COA4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYJ1", "type": "external" } ], "mass": 10134.0, "length": 87, "protein_name": "Cytochrome c oxidase assembly factor 4 homolog, mitochondrial", "gene_name": "COA4", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly factor 4 homolog, mitochondrial", "refseq_ac": [ { "id": "NP_057649", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057649", "type": "external" } ], "gene_names_uniprotkb": "COA4; CHCHD8; E2IG2", "gene_names_refseq": "CHCHD8; CMC3; COA4; E2IG2", "protein_names_uniprotkb": "Cytochrome c oxidase assembly factor 4 homolog, mitochondrial; Coiled-coil-helix-coiled-coil-helix domain-containing protein 8; E2-induced gene 2 protein", "protein_names_refseq": "E2-induced gene 2 protein; coiled-coil-helix-coiled-coil-helix domain containing 8; coiled-coil-helix-coiled-coil-helix domain-containing protein 8; cytochrome c oxidase assembly factor 4 homolog, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:51287); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "11085516;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19767391;19962426;20068231;20593814;21750375;23041349;23597483;23676665;23811401;25315652;26697887;28218747;28832583;29242379;29393594;29437277;30410026;30429286;31848261;32265295", "class_list": "", "function": "Putative COX assembly factor., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RAA0;Q69YU4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9NYJ1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZA1-1", "uniprot_id": [ { "id": "CLIC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZA1", "type": "external" } ], "mass": 46503.0, "length": 410, "protein_name": "Chloride intracellular channel protein 5", "gene_name": "CLIC5", "organism": "Human", "refseq_name": "chloride intracellular channel protein 5 isoform a", "refseq_ac": [ { "id": "NP_001107558", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107558", "type": "external" } ], "gene_names_uniprotkb": "CLIC5", "gene_names_refseq": "CLIC5; DFNB102; DFNB103; MST130; MSTP130", "protein_names_uniprotkb": "Chloride intracellular channel protein 5; 1.8.-.-; Glutaredoxin-like oxidoreductase CLIC5", "protein_names_refseq": "chloride intracellular channel 5; chloride intracellular channel protein 5 isoform a; chloride intracellular channel protein 5; glutaredoxin-like oxidoreductase CLIC5", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 103 (Disease Ontology:DOID:0110464); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:53405); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 35, "publication_id_list": "10025409;10793131;10821263;10930415;11163272;11237011;12163479;15184393;16303743;17074750;18028448;20335315;24285636;24781754;27862975;29557506;29786170;31154438;31844290;31848261;32157095;32357974;32502341;32938616;33114113;33298915;33592498;33968037;34357683;34932366;35051231;35318648;35580925;37286734;37938771", "class_list": "", "function": "A comprehensively prognostic and immunological analysis of chloride intracellular channel protein 5 (CLIC5) in pan-cancer and identification in ovarian cancer., [RefSeq, PubMed]; Association with Golgi apparatus AKAP350, [RefSeq, PubMed]; Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment. Publication Status: Online-Only, [RefSeq, PubMed]; CLIC-5A has a role as a chloride channel in vitro and binds to cortical actin cytoskeleton, [RefSeq, PubMed]; In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor (By similarity). Can insert into membranes and form non-selective ion channels almost equally permeable to Na(+), K(+) and Cl(-) (PubMed:15184393, PubMed:18028448). Required for normal hearing (PubMed:24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315). Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B3KUF1;Q5T4Z0;Q8NBY3;Q96JT5;Q9BWZ0", "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "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" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" } ], "go_molecular_function": "GO:0016491 oxidoreductase activity;GO:0005254 chloride channel activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0007565 female pregnancy;GO:0007601 visual perception;GO:0007605 sensory perception of sound;GO:0006821 chloride transport", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9NZA1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBD9-1", "uniprot_id": [ { "id": "CLCF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBD9", "type": "external" } ], "mass": 25176.0, "length": 225, "protein_name": "Cardiotrophin-like cytokine factor 1", "gene_name": "CLCF1", "organism": "Human", "refseq_name": "cardiotrophin-like cytokine factor 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001159684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159684", "type": "external" } ], "gene_names_uniprotkb": "CLCF1; BSF3; CLC; NNT1", "gene_names_refseq": "BSF-3; BSF3; CISS2; CLCF1; CLC; NNT-1; NNT1; NR6", "protein_names_uniprotkb": "Cardiotrophin-like cytokine factor 1; B-cell-stimulating factor 3; BSF-3; Cardiotrophin-like cytokine; NNT-1; Novel neurotrophin-1", "protein_names_refseq": "B-cell stimulatory factor 3; B-cell-stimulating factor 3; CRLF1 associated cytokine-like factor 1; cardiotrophin-like cytokine factor 1 isoform 2 precursor; neurotrophin-1/B-cell stimulating factor-3; novel neurotrophin-1", "tax_id": 9606, "disease": "cold-induced sweating syndrome 2 (Disease Ontology:DOID:0080330); severe acute respiratory syndrome (Disease Ontology:DOID:2945)", "pathway": " (hsa:23529); (R-HSA-6788467)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10448081;10500198;10586060;10812968;10966616;11285233;11294841;11834704;11943154;12601009;12707266;12811586;15450249;15519241;16051226;16782820;19920145;21715184;26858303;2779549;31154438;31222486;32488085;32502341;32938616;33968037;34087483;34364014;35055176;35265072;35950514;36010968;36241641;36930708;7670098;7738033;7852997;7862649;7957045;8119965;8272873;8390097;8627290;8637716;9238703", "class_list": "", "function": "CLCF1 Is a Novel Potential Immune-Related Target With Predictive Value for Prognosis and Immunotherapy Response in Glioma. Publication Status: Online-Only, [RefSeq, PubMed]; CRLF1 and CLCF1 in Development, Health and Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Cardiotrophin Like Cytokine Factor 1 (CLCF1) alleviates bone loss in osteoporosis mouse models by suppressing osteoclast differentiation through activating interferon signaling and repressing the nuclear factor-kappaB signaling pathway., [RefSeq, PubMed]; Functions as a cytokine, either alone or by forming a stable complex with soluble CRLF1 or CNTFR (PubMed:10448081, PubMed:10500198, PubMed:10966616, PubMed:11285233, PubMed:11294841). Binds to CNTFR complex (CNTFR, IL6ST/gp130, LIFR) or can signal via trans-signaling using soluble CNTFR subunits (PubMed:10966616, PubMed:11285233, PubMed:11294841). Mechanistically, ligand binding to CNTFR, induces dimerization of the IL6ST/gp130 and LIFR, which activates JAK tyrosine kinases (JAK1 or JAK2 and to lesser extent TYK2) bound to their intracellular domains (PubMed:11294841, PubMed:16782820). These kinases subsequently phosphorylate IL6ST/gp130 and LIFR (PubMed:11294841). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of signal transducer and activators of transcription (STAT3 and to lesser extent STAT1) (PubMed:10448081, PubMed:10500198, PubMed:10966616, PubMed:11285233, PubMed:11294841, PubMed:16782820). Moreover, CLCF1/CLF heterodimer induces tyrosine phosphorylation of PTPN11, that associates with IL6ST/gp130-LIFR, which in turn recruits PIK3 protein kinase followed by AKT protein phosphorylation (PubMed:11294841). Participates in the survival of embryonic motor neurons (PubMed:10500198, PubMed:10966616). Also stimulates B-cells (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Intrahepatic paracrine signaling by cardiotrophin-like cytokine factor 1 ameliorates diet-induced NASH in mice., [RefSeq, PubMed]; This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic factor (CNTF) for binding to the ciliary neurotrophic factor receptor (CNTFR) complex, and activates the Jak-STAT signaling cascade. CLCF1 can be actively secreted from cells by forming a complex with soluble type I CRLF1 or soluble CNTFR. CLCF1 is a potent neurotrophic factor, B-cell stimulatory agent and neuroendocrine modulator of pituitary corticotroph function. Defects in CLCF1 cause cold-induced sweating syndrome 2 (CISS2). This syndrome is characterized by a profuse sweating after exposure to cold as well as congenital physical abnormalities of the head and spine. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DNT4;Q6NZA4", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity;GO:0005127 ciliary neurotrophic factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0097058 CRLF-CLCF1 complex;GO:0097059 CNTFR-CLCF1 complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0043524 negative regulation of neuron apoptotic process;GO:0030890 positive regulation of B cell proliferation;GO:0030183 B cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9UBD9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGN4-1", "uniprot_id": [ { "id": "CLM8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGN4", "type": "external" } ], "mass": 33201.0, "length": 299, "protein_name": "CMRF35-like molecule 8", "gene_name": "CD300A", "organism": "Human", "refseq_name": "CMRF35-like molecule 8 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001243770", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243770", "type": "external" } ], "gene_names_uniprotkb": "CD300A; CMRF35H; HSPC083; IGSF12", "gene_names_refseq": "CD300A; CLM-8; CMRF-35-H9; CMRF-35H; CMRF35-H9; CMRF35-H; CMRF35H9; CMRF35H; IGSF12; IRC1/IRC2; IRC1; IRC2; IRp60", "protein_names_uniprotkb": "CMRF35-like molecule 8; CD300 antigen-like family member A; CLM-8; CMRF-35-H9; CMRF35-H9; CMRF35-H; IRC1/IRC2; IRp60; IgSF12; Immunoglobulin superfamily member 12; Inhibitory receptor protein 60; NK inhibitory receptor", "protein_names_refseq": "CD300 antigen-like family member A; CD300a antigen; CMRF35-like molecule 8 isoform 2 precursor; CMRF35-like molecule 8; CMRF35H leukocyte immunoglobulin-like receptor; NK inhibitory receptor; immunoglobulin superfamily member 12; inhibitory receptor protein 60; leukocyte membrane antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:11314); (R-HSA-198933); (R-HSA-6798695); (R-HSA-9918485)", "pathway_count": 4, "publication_count": 131, "publication_id_list": "10499918;10540326;10746781;11237011;11265639;11337487;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12456026;12483297;12588680;12682107;14719373;14970179;15034010;15098107;15136729;15155468;15187158;15304001;15507651;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15838506;15851719;15864273;16014749;16091383;16129954;16339513;16339535;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18266465;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22043923;22396535;23084921;23555621;23650620;23658209;23695528;23929856;24074594;24305946;25502872;25703557;25716998;26056282;26212330;26284469;26300885;26468529;27832191;27846572;28218747;28228285;29242379;29393594;29437277;29508533;29557506;29610346;29742433;29774024;30485414;30626607;31217245;31611695;31720911;31844290;32350084;32502341;32983136;33298915;33548578;33912179;34078123;34357683;34433824;34932366;35051231;35154160;35580925;7531291;7542404;8178173;8692836;8995416;9285412;9314561;9700512;9701027;9730896;9931503", "class_list": "", "function": "CD300 molecules participate in the mechanisms that viruses employ to develop immune evasion strategies and to infect host cells [Review]. Review article, [RefSeq, PubMed]; CD300a and CD300f molecules regulate the function of leukocytes. Review article, [RefSeq, PubMed]; CMRF35A and CMRF35H have roles in immunoglobulin signaling; CMRF35H is an inhibitory molecule [review] Review article, [RefSeq, PubMed]; Inhibitory receptor which may contribute to the down-regulation of cytolytic activity in natural killer (NK) cells, and to the down-regulation of mast cell degranulation (PubMed:10746781, PubMed:16339535, PubMed:9701027). Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 but not TRIF through activation of PTPN6 (PubMed:22043923)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the CD300 glycoprotein family of cell surface proteins found on leukocytes involved in immune response signaling pathways. This gene is located on chromosome 17 in a cluster with all but one of the other family members. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MW96;O95100;Q9HD97;Q9P0F3;Q9UBK4;Q9UMS9;Q9UMT0", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0008429 phosphatidylethanolamine binding;GO:0001786 phosphatidylserine binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0070821 tertiary granule membrane;GO:0101003 ficolin-1-rich granule membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0048147 negative regulation of fibroblast proliferation;GO:0043407 negative regulation of MAP kinase activity", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q9UGN4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y471-1", "uniprot_id": [ { "id": "CMAH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y471", "type": "external" } ], "mass": 58380.0, "length": 501, "protein_name": "Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase", "gene_name": "CMAHP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CMAHP; CMAH", "gene_names_refseq": "", "protein_names_uniprotkb": "Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase; CMP-NeuAc hydroxylase-like protein; Cytidine monophosphate-N-acetylneuraminic acid hydroxylase pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 10, "publication_id_list": "11562455;12192086;19890979;29242379;29493099;30779550;35580925;36284347;9624188;9751737", "class_list": "", "function": "Sialic acids are components of carbohydrate chains of glycoconjugates and are involved in cell-cell recognition and cell-pathogen interactions. That protein has no CMP-N-acetylneuraminate monooxygenase activity and is not able to convert CMP-N-acetylneuraminic acid (CMP-Neu5Ac) into its hydroxylated derivative CMP-N-glycolylneuraminic acid (CMP-Neu5Gc), a sialic acid abundantly expressed at the surface of many cells in vertebrates (PubMed:9624188). However, it may play a role in Wnt signaling (PubMed:19890979)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C1K3L2;O95250;Q5TD41;Q5TD42;Q5TD43;Q5TD44;Q68DC3;Q9UEE7", "ec_number_list": [], "go_molecular_function": "GO:0030338 CMP-N-acetylneuraminate monooxygenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:0030111 regulation of Wnt signaling pathway;GO:0046381 CMP-N-acetylneuraminate metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9Y471-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6N1-1", "uniprot_id": [ { "id": "COX11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6N1", "type": "external" } ], "mass": 31430.0, "length": 276, "protein_name": "Cytochrome c oxidase assembly protein COX11, mitochondrial", "gene_name": "COX11", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly protein COX11, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_004366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004366", "type": "external" } ], "gene_names_uniprotkb": "COX11", "gene_names_refseq": "COX11P; COX11; MC4DN23", "protein_names_uniprotkb": "Cytochrome c oxidase assembly protein COX11, mitochondrial", "protein_names_refseq": "COX11 homolog, cytochrome c oxidase assembly protein; COX11, cytochrome c oxidase copper chaperone; cytochrome c oxidase assembly protein COX11, mitochondrial isoform 1; cytochrome c oxidase assembly protein COX11, mitochondrial; cytochrome c oxidase subunit 11", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); mitochondrial complex IV deficiency nuclear type 23 (Disease Ontology:DOID:0070485); 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:1353); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "11237011;15229189;15840172;19330027;19503089;22342701;23125284;23260140;23345593;23746447;24403053;25926683;25959673;26321642;26992070;27693358;28082314;28199844;28218747;28330871;28904123;29154948;29393594;29437277;29786170;30315122;30833945;31536960;31844290;32161166;32317297;32375044;32488085;32502341;32938616;33717175;33912179;33968037;34087483;34171305;34357683;34400285;34969438;35051231;35580925;35750769;35772352;36030551;36241641;38068960;38071964;38253038;40596516;9843204;9878253", "class_list": "", "function": "Assembly factor for cytochrome c oxidase (respiratory chain complex IV, CIV) (PubMed:35750769). Probably acts as a metallochaperone that delivers copper to the copper B site of COX1 (PubMed:35750769)., [UniProtKB, PubMed]; Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy., [RefSeq, PubMed]; Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]., [RefSeq]; Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer., [RefSeq, PubMed]; LncRNA FGD5-AS1 Alleviates Inflammation in Allergic Rhinitis through the miR-223-3p/COX11 Axis., [RefSeq, PubMed]; Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae. 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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DTY5;I3L220;Q6FHB7;Q9BRX0;Q9UME8", "ec_number_list": [], "go_molecular_function": "GO:0005507 copper ion binding;GO:0016531 copper chaperone activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006754 ATP biosynthetic process;GO:0030003 intracellular monoatomic cation homeostasis;GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9Y6N1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJJ6-1", "uniprot_id": [ { "id": "CS067_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJJ6", "type": "external" } ], "mass": 39779.0, "length": 358, "protein_name": "UPF0575 protein C19orf67", "gene_name": "C19orf67", "organism": "Human", "refseq_name": "UPF0575 protein C19orf67", "refseq_ac": [ { "id": "NP_001264307", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264307", "type": "external" } ], "gene_names_uniprotkb": "C19orf67", "gene_names_refseq": "C19orf67", "protein_names_uniprotkb": "UPF0575 protein C19orf67", "protein_names_refseq": "UPF0575 protein C19orf67", "tax_id": 9606, "disease": "", "pathway": " (hsa:646457)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;22706990", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0001701 in utero embryonic development", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NJJ6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GUU1-1", "uniprot_id": [ { "id": "CQ113_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GUU1", "type": "external" } ], "mass": 72432.0, "length": 675, "protein_name": "Uncharacterized protein C17orf113", "gene_name": "C17orf113", "organism": "Human", "refseq_name": "uncharacterized protein C17orf113", "refseq_ac": [ { "id": "NP_001345590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001345590", "type": "external" } ], "gene_names_uniprotkb": "C17orf113", "gene_names_refseq": "C17orf113", "protein_names_uniprotkb": "Uncharacterized protein C17orf113", "protein_names_refseq": "transmembrane protein C17orf113; uncharacterized protein C17orf113", "tax_id": 9606, "disease": "", "pathway": " (hsa:110806298)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "33298915;35051231;36241641", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0A1B0GUU1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2RUQ5-1", "uniprot_id": [ { "id": "CQ102_HUMAN", "url": "https://www.uniprot.org/uniprot/A2RUQ5", "type": "external" } ], "mass": 17761.0, "length": 167, "protein_name": "Uncharacterized protein TMEM132E-DT", "gene_name": "TMEM132E-DT", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TMEM132E-DT; C17orf102", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein TMEM132E-DT; TMEM132E divergent transcript", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "29242379;30379171", "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A5PKX0;Q6ZTB3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A2RUQ5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCJ1-1", "uniprot_id": [ { "id": "TKTI1_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCJ1", "type": "external" } ], "mass": 24176.0, "length": 209, "protein_name": "Tektin bundle-interacting protein 1", "gene_name": "TEKTIP1", "organism": "Human", "refseq_name": "tektin bundle-interacting protein 1", "refseq_ac": [ { "id": "NP_001129052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129052", "type": "external" } ], "gene_names_uniprotkb": "TEKTIP1; C19orf71", "gene_names_refseq": "C19orf71; TEKTIP1", "protein_names_uniprotkb": "Tektin bundle-interacting protein 1", "protein_names_refseq": "tektin bundle-interacting protein 1; uncharacterized protein C19orf71", "tax_id": 9606, "disease": "", "pathway": " (hsa:100128569)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. Located at the center of the tektin bundle where may function to recruit tektins or stabilize the bundle., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0005879 axonemal microtubule;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NCJ1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGU7-1", "uniprot_id": [ { "id": "CX028_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGU7", "type": "external" } ], "mass": 7222.0, "length": 62, "protein_name": "Putative uncharacterized protein encoded by LINC01546", "gene_name": "LINC01546", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01546; CXorf28", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC01546", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "25576301;27846572;30429286;30620550;33592498", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A6NGU7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MV24-1", "uniprot_id": [ { "id": "SPMA1_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MV24", "type": "external" } ], "mass": 17565.0, "length": 154, "protein_name": "Sperm microtubule associated protein 1", "gene_name": "SPMAP1", "organism": "Human", "refseq_name": "sperm microtubule associated protein 1", "refseq_ac": [ { "id": "NP_001073934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073934", "type": "external" } ], "gene_names_uniprotkb": "SPMAP1; C17orf98", "gene_names_refseq": "C17orf98; SPMAP1", "protein_names_uniprotkb": "Sperm microtubule associated protein 1", "protein_names_refseq": "sperm microtubule associated protein 1; uncharacterized protein C17orf98", "tax_id": 9606, "disease": "", "pathway": " (hsa:388381)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "27600516", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A8MV24-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26998-1", "uniprot_id": [ { "id": "CRBB3_HUMAN", "url": "https://www.uniprot.org/uniprot/P26998", "type": "external" } ], "mass": 24252.0, "length": 211, "protein_name": "Beta-crystallin B3", "gene_name": "CRYBB3", "organism": "Human", "refseq_name": "beta-crystallin B3", "refseq_ac": [ { "id": "NP_004067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004067", "type": "external" } ], "gene_names_uniprotkb": "CRYBB3; CRYB3", "gene_names_refseq": "CATCN2; CRYB3; CRYBB3; CTRCT22", "protein_names_uniprotkb": "Beta-crystallin B3; Beta-B3 crystallin", "protein_names_refseq": "beta-crystallin B3; eye lens structural protein", "tax_id": 9606, "disease": "cataract 22 multiple types (Disease Ontology:DOID:0110268)", "pathway": " (hsa:1417)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;12060738;15914629;18477386;19182255;23508780;2499686;27326458;8999933", "class_list": "", "function": "A common ancestral mutation in CRYBB3 associated with autosomal recessive congenital cataracts identified in four familial cases of Pakistani origin, is reported. Publication Status: Online-Only, [RefSeq, PubMed]; Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]., [RefSeq]; Crystallins are the dominant structural components of the vertebrate eye lens., [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": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3B7S9;Q3T1B7;Q6ISK6;Q92965;Q9UH09", "ec_number_list": [], "go_molecular_function": "GO:0005212 structural constituent of eye lens", "go_cellular_component": "", "go_biological_process": "GO:0007601 visual perception;GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P26998-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q49B96-1", "uniprot_id": [ { "id": "COX19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q49B96", "type": "external" } ], "mass": 10394.0, "length": 90, "protein_name": "Cytochrome c oxidase assembly protein COX19", "gene_name": "COX19", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly protein COX19", "refseq_ac": [ { "id": "NP_001026788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026788", "type": "external" } ], "gene_names_uniprotkb": "COX19", "gene_names_refseq": "COX19", "protein_names_uniprotkb": "Cytochrome c oxidase assembly protein COX19; hCOX19", "protein_names_refseq": "COX19 cytochrome c oxidase assembly homolog; COX19, cytochrome c oxidase assembly factor; cytochrome c oxidase assembly homolog 19; cytochrome c oxidase assembly protein COX19; hCOX19", "tax_id": 9606, "disease": "", "pathway": " (hsa:90639); (R-HSA-1268020); (R-HSA-9864848)", "pathway_count": 3, "publication_count": 48, "publication_id_list": "11237011;14726512;15254020;15644312;15683237;16185709;16212937;16849325;17510655;18174896;18678864;19409522;19453276;19503089;19767391;19962426;20593814;21750375;22342701;23041349;23125284;23260140;23345593;23597483;23676665;23746447;23811401;24403053;25315652;25926683;25959673;26321642;26697887;27693358;28082314;28199844;28330871;28834231;29154948;31536960;32317297;32375044;33298915;34357683;34969438;35750769;38141772;9843204", "class_list": "", "function": "Assembly factor for cytochrome c oxidase (respiratory chain complex IV, CIV) (PubMed:35750769). Acts as a COX11 chaperone that supports COX11 copper coordination (PubMed:35750769). Also stimulates SCO2-mediated metalation of COX2 (PubMed:35750769). Required for the transduction of an SCO1-dependent redox signal from the mitochondrion to ATP7A to regulate cellular copper homeostasis (PubMed:23345593). In the absence of COX11, capable of stimulating copper delivery to the copper B site of COX1 (PubMed:35750769)., [UniProtKB, PubMed, PubMed]; Both hCox18p and hCox19p present significant amino acid identity with the corresponding yeast polypeptides and reveal highly conserved functional domains., [RefSeq, PubMed]; COX19 Is a New Target of MACC1 and Promotes Colorectal Cancer Progression by Regulating Copper Transport in Mitochondria., [RefSeq, PubMed]; COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008]., [RefSeq]; COX19 is necessary for the transduction of a SCO1-dependent mitochondrial redox signal that regulates ATP7A-mediated cellular copper efflux., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4FTX0", "ec_number_list": [], "go_molecular_function": "GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol", "go_biological_process": "GO:0006878 intracellular copper ion homeostasis;GO:0051604 protein maturation;GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q49B96-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYP8-1", "uniprot_id": [ { "id": "EPCIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYP8", "type": "external" } ], "mass": 24852.0, "length": 219, "protein_name": "Exosomal polycystin-1-interacting protein", "gene_name": "EPCIP", "organism": "Human", "refseq_name": "exosomal polycystin-1-interacting protein precursor", "refseq_ac": [ { "id": "NP_001155967", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155967", "type": "external" } ], "gene_names_uniprotkb": "EPCIP; C21orf120; C21orf62; CU062", "gene_names_refseq": "B37; C21orf120; C21orf62; CU062; EPCIP; PRED81", "protein_names_uniprotkb": "Exosomal polycystin-1-interacting protein; B37; Polycystin-1-interacting protein 1", "protein_names_refseq": "exosomal polycystin-1-interacting protein precursor; polycystin-1-interacting protein 1; uncharacterized protein C21orf62", "tax_id": 9606, "disease": "", "pathway": " (hsa:56245)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "10773462;11237011;31154438;37681898", "class_list": "", "function": "Likely to be involved with PKD1 in the detection, sequestration and exocytosis of senescent mitochondria., [UniProtKB, PubMed]; Polycystin-1 Interacting Protein-1 (CU062) Interacts with the Ectodomain of Polycystin-1 (PC1). Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K4L8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0140494 migrasome", "go_biological_process": "GO:0160040 mitocytosis", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9NYP8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "H7BZ55-1", "uniprot_id": [ { "id": "CRCC2_HUMAN", "url": "https://www.uniprot.org/uniprot/H7BZ55", "type": "external" } ], "mass": 185641.0, "length": 1653, "protein_name": "Ciliary rootlet coiled-coil protein 2", "gene_name": "CROCC2", "organism": "Human", "refseq_name": "ciliary rootlet coiled-coil protein 2", "refseq_ac": [ { "id": "NP_001338234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001338234", "type": "external" } ], "gene_names_uniprotkb": "CROCC2", "gene_names_refseq": "CROCC2", "protein_names_uniprotkb": "Ciliary rootlet coiled-coil protein 2", "protein_names_refseq": "ciliary rootlet coiled-coil protein 2; putative ciliary rootlet coiled-coil protein 2; putative ciliary rootlet coiled-coil protein-like 3 protein; rootletin-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:728763)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;29557506;30379171;32387766;33592498;34509645;34561969;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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005814 centriole", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "H7BZ55-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "I3L1E1-1", "uniprot_id": [ { "id": "CS084_HUMAN", "url": "https://www.uniprot.org/uniprot/I3L1E1", "type": "external" } ], "mass": 19614.0, "length": 186, "protein_name": "piRNA-mediated silencing protein C19orf84", "gene_name": "C19orf84", "organism": "Human", "refseq_name": "piRNA-mediated silencing protein C19orf84", "refseq_ac": [ { "id": "NP_001180552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180552", "type": "external" } ], "gene_names_uniprotkb": "C19orf84", "gene_names_refseq": "C19orf84", "protein_names_uniprotkb": "piRNA-mediated silencing protein C19orf84", "protein_names_refseq": "piRNA-mediated silencing protein C19orf84; uncharacterized protein C19orf84", "tax_id": 9606, "disease": "", "pathway": " (hsa:147646); (R-HSA-9845323)", "pathway_count": 2, "publication_count": 3, "publication_id_list": "11237011;38359823;39894887", "class_list": "", "function": "C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line., [RefSeq, PubMed]; Protein adapter involved in piRNA-directed transposon methylation by connecting PIWIL4-piRNA and DNA methylation machineries. The PIWIL4-piRNA pathway plays a central role during spermatogenesis by directing transposon DNA methylation and silencing, thereby preventing their mobilization, which is essential for the germline integrity., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0141196 transposable element silencing by piRNA-mediated DNA methylation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "I3L1E1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "J3KSC0-1", "uniprot_id": [ { "id": "CR064_HUMAN", "url": "https://www.uniprot.org/uniprot/J3KSC0", "type": "external" } ], "mass": 14903.0, "length": 135, "protein_name": "Putative uncharacterized protein encoded by LINC01387", "gene_name": "LINC01387", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01387; C18orf64", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC01387", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "17213182;33912179", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "J3KSC0-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75462-1", "uniprot_id": [ { "id": "CRLF1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75462", "type": "external" } ], "mass": 46302.0, "length": 422, "protein_name": "Cytokine receptor-like factor 1", "gene_name": "CRLF1", "organism": "Human", "refseq_name": "cytokine receptor-like factor 1 precursor", "refseq_ac": [ { "id": "NP_004741", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004741", "type": "external" } ], "gene_names_uniprotkb": "CRLF1; PRO327", "gene_names_refseq": "CISS1; CISS; CLF-1; CLF; CRLF1; NR6; zcytor5", "protein_names_uniprotkb": "Cytokine receptor-like factor 1; CLF-1; Cytokine-like factor 1; ZcytoR5", "protein_names_refseq": "class I cytokine receptor; cytokine receptor-like factor 1 precursor; cytokine type 1 receptor CRLP-1; cytokine-like factor 1", "tax_id": 9606, "disease": "cold-induced sweating syndrome (Disease Ontology:DOID:0060294); autosomal dominant intellectual developmental disorder 56 (Disease Ontology:DOID:0080226); cold-induced sweating syndrome 1 (Disease Ontology:DOID:0080329)", "pathway": " (hsa:9244); (R-HSA-6788467); (R-HSA-9020956)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10586060;10812968;10966616;11237011;11294841;11834704;11943154;12121660;12509788;12601009;12707266;12734330;12811586;12975309;14565860;14764690;15340161;15450249;15519241;16051226;16952376;17436251;17436252;18292512;18389480;19920145;19933857;20519510;21326283;21631431;21715184;23026229;23584533;24488861;24771852;25992861;26858303;27119567;2779549;29393594;29741879;32161166;32983136;35051231;36010968;36930708;37074911;37910254;38262564;39116531;39256356;7670098;7738033;7852997;7862649;7957045;8119965;8272873;8390097;8483502;8627290;8637716;9238703;9342359;9686600", "class_list": "", "function": "CRLF1 bridges AKT and mTORC2 through SIN1 to inhibit pyroptosis and enhance chemo-resistance in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; ENO1 regulates IL-1beta-induced chondrocyte inflammation, apoptosis and matrix degradation possibly through the potential binding to CRLF1., [RefSeq, PubMed]; Functions as secretory protein carrier chaperone that promotes cellular release (PubMed:10966616). Also functions as a cytokine subunit within the CRLF1-CLCF1 heterodimer, which engages the CNTF receptor complex (CNTFR, IL6ST/gp130, LIFR) (PubMed:10966616). As part of the CRLF-CLCF1 complex, binds to CNTFR, induces dimerization of the IL6ST/gp130 and LIFR, which activates JAK tyrosine kinases (JAK1 or JAK2 and to lesser extent TYK2) bound to their intracellular domains (PubMed:11294841). These kinases subsequently phosphorylate IL6ST/gp130 and LIFR (PubMed:11294841). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of signal transducer and activators of transcription (STAT3 and to lesser extent STAT1) (PubMed:10966616, PubMed:11294841). Moreover, CLCF1/CLF heterodimer induces tyrosine phosphorylation of PTPN11, that associates with IL6ST/gp130-LIFR, which in turn recruits PIK3 protein kinase followed by AKT protein phosphorylation (PubMed:11294841). Participates in the survival of embryonic motor neurons (PubMed:10966616). May also play a regulatory role in the immune system (PubMed:9686600)., [UniProtKB, PubMed, PubMed, PubMed]; Identification and validation of CRLF1 and NRG1 as immune-related signatures in hypertrophic scar., [RefSeq, PubMed]; Long non-coding RNA MIR22HG suppresses the chondrogenic differentiation of human adipose-derived stem cells by interacting with CTCF to upregulate CRLF1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q9UHH5", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0019955 cytokine binding;GO:0004896 cytokine receptor activity;GO:0140597 protein carrier chaperone", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0043235 receptor complex;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043524 negative regulation of neuron apoptotic process;GO:0009306 protein secretion;GO:0001657 ureteric bud development;GO:0019221 cytokine-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O75462-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00230-1", "uniprot_id": [ { "id": "CORT_HUMAN", "url": "https://www.uniprot.org/uniprot/O00230", "type": "external" } ], "mass": 11532.0, "length": 105, "protein_name": "Cortistatin", "gene_name": "CORT", "organism": "Human", "refseq_name": "cortistatin preproprotein", "refseq_ac": [ { "id": "NP_001293", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293", "type": "external" } ], "gene_names_uniprotkb": "CORT; PRO350", "gene_names_refseq": "CORT; CST-14; CST-17; CST-29; SST2", "protein_names_uniprotkb": "Cortistatin", "protein_names_refseq": "cortistatin preproprotein; cortistatin-14; cortistatin-17; cortistatin-29; prepro-cortistatin; preprocortistatin; somatostatin 2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); catecholaminergic polymorphic ventricular tachycardia 4 (Disease Ontology:DOID:0060678); long QT syndrome 14 (Disease Ontology:DOID:0110655); Alzheimer's disease (Disease Ontology:DOID:10652); cancer (Disease Ontology:DOID:162); brain infarction (Disease Ontology:DOID:3454); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:1325); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10461921;10498338;10499587;10604470;10854085;10899166;11007482;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12915402;12956774;12975309;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;23446738;23690594;24906252;2534964;2649896;2748346;27496565;2834384;3202875;3366244;34789874;34789875;3525564;36361790;37794493;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9125122;9171878;9205124;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Cortistatin deficiency reveals a dysfunctional brain endothelium with impaired gene pathways, exacerbated immune activation, and disrupted barrier integrity. Publication Status: Online-Only, [RefSeq, PubMed]; Identifies post-translational cleavage products of the homologous rat protein., [RefSeq, PubMed]; Neuropeptide with neuronal depressant and sleep-modulating properties (By similarity). Acts as a ligand for MRGPRX2 receptor in mast cells (PubMed:12915402, PubMed:34789874, PubMed:34789875)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Precursor of neuropeptides that bind to all somatostatin receptor (SSTR) subtypes (PubMed:9125122). Inhibits cAMP production induced by forskolin through SSTRs (PubMed:9125122)., [UniProtKB, PubMed]; Somatostatin, Cortistatin and Their Receptors Exert Antitumor Actions in Androgen-Independent Prostate Cancer Cells: Critical Role of Endogenous Cortistatin. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a neuropeptide that is structurally similar to somatostatin. It binds to all known somatostatin receptors, and shares many pharmacological and functional properties with somatostatin, including the depression of neuronal activity. However, it also has many properties distinct from somatostatin, such as induction of slow-wave sleep, apparently by antagonism of the excitatory effects of acetylcholine on the cortex, reduction of locomotor activity, and activation of cation selective currents not responsive to somatostatin. The preproprotein undergoes further processing into multiple mature products. Read-through transcripts exist between this gene and the upstream APITD1 (apoptosis-inducing, TAF9-like domain 1) gene, as represented in GeneID:100526739. [provided by RefSeq, Nov 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T6G0;Q6UX11", "ec_number_list": [], "go_molecular_function": "GO:0001664 G protein-coupled receptor binding;GO:0005184 neuropeptide hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0045202 synapse", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007268 chemical synaptic transmission;GO:0030334 regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "O00230-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15431-1", "uniprot_id": [ { "id": "COPT1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15431", "type": "external" } ], "mass": 21091.0, "length": 190, "protein_name": "High affinity copper uptake protein 1", "gene_name": "SLC31A1", "organism": "Human", "refseq_name": "high affinity copper uptake protein 1", "refseq_ac": [ { "id": "NP_001850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001850", "type": "external" } ], "gene_names_uniprotkb": "SLC31A1; COPT1; CTR1", "gene_names_refseq": "COPT1; CTR1; NSCT; SLC31A1", "protein_names_uniprotkb": "High affinity copper uptake protein 1; Copper transporter 1; Solute carrier family 31 member 1; hCTR1", "protein_names_refseq": "copper transport 1 homolog; copper transporter 1; high affinity copper uptake protein 1; solute carrier family 31 (copper transporter), member 1; solute carrier family 31 (copper transporters), member 1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); neurodegeneration and seizures due to copper transport defect (MONDO:MONDO:0957211)", "pathway": " (hsa:1317); (R-HSA-425410)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10625641;11734551;11983704;12023893;15326162;15692071;15804357;16135512;16501047;16984228;17211682;17486601;17525160;19021540;19452451;19684018;19740744;20451502;20569931;22341971;22341972;22615137;23186163;23658018;24167251;24837030;25319704;26205368;26745413;26945057;27143361;29242379;29393594;29769354;30489586;30614075;30755481;31292775;31530632;31844290;31848261;32157095;32350084;32914794;33294387;33981976;34357683;34433824;35027734;35154160;35318648;35601835;35913762;36562171;37610668;37853210;37884650;38712735;39147318;9207117", "class_list": "", "function": "ARNTL2 facilitates bladder cancer progression through potentiating ENO1-mediated glycolysis in a SLC31A1-independent and -dependent manner., [RefSeq, PubMed]; Biochemical characterization and subcellular localization, [RefSeq, PubMed]; Cuproptosis-related gene SLC31A1 expression correlates with the prognosis and tumor immune microenvironment in glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Cuproptosis-related gene SLC31A1: prognosis values and potential biological functions in cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Fundamentally conserved mechanism for high affinity copper uptake through the Ctr proteins in yeast and humans, [RefSeq, PubMed]; Identification of cuproptosis-related gene SLC31A1 and upstream LncRNA-miRNA regulatory axis in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Mobilizes copper(1+) out of the endosomal compartment, making copper(1+) available for export out of the cells., [UniProtKB, UniProtKB]; Revealing the potential of solute carrier family 31 (copper transporters), member 1: Insights into its role in bladder cancer progression and therapeutic implications., [RefSeq, PubMed]; The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011]., [RefSeq]; Uniporter that mediates the transport of copper(1+) from the extracellular space to the cytoplasm, across the plasma membrane (PubMed:11734551, PubMed:16135512, PubMed:17525160, PubMed:19740744, PubMed:20451502, PubMed:20569931, PubMed:23658018) and delivers directly copper(1+) to specific chaperone such as ATOX1, via a copper(1+)- mediated transient interaction between the C-terminal domain and a copper(1+) chaperone, thus controlling intracellular copper(1+) levels (PubMed:11734551, PubMed:16135512, PubMed:17525160, PubMed:19740744, PubMed:20451502, PubMed:20569931, PubMed:23658018, PubMed:26745413). May function in copper(1+) import from the apical membrane thus may drive intestinal copper absorption (By similarity). The copper(1+) transport mechanism is sodium-independent, saturable and of high-affinity (PubMed:11734551). Also mediates the uptake of silver(1+) (PubMed:20569931). May function in the influx of the platinum-containing chemotherapeutic agents (PubMed:20451502, PubMed:20569931). The platinum-containing chemotherapeutic agents uptake is saturable (By similarity). In vitro, mediates the transport of cadmium(2+) into cells (PubMed:33294387). Also participates in the first step of copper(2+) acquisition by cells through a direct transfer of copper(2+) from copper(2+) carriers in blood, such as ALB to the N-terminal domain of SLC31A1, leading to copper(2+) reduction and probably followed by copper(1+) stabilization (PubMed:30489586). In addition, functions as a redox sensor to promote angiogenesis in endothelial cells, in a copper(1+) transport independent manner, by transmitting the VEGF-induced ROS signal through a sulfenylation at Cys-189 leadin g to a subsequent disulfide bond formation between SLC31A1 and KDR (PubMed:35027734). The SLC31A1-KDR complex is then co-internalized to early endosomes, driving a sustained VEGFR2 signaling (PubMed:35027734)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, 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": 2, "mined_n_glycosites": 1, "mined_o_glycosites": 1, "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": 1, "reported_mutagensis": 22, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K8Z6;Q53GR5;Q5T1M4", "ec_number_list": [], "go_molecular_function": "GO:0042910 xenobiotic transmembrane transporter activity;GO:0042802 identical protein binding;GO:0005507 copper ion binding;GO:0005375 copper ion transmembrane transporter activity;GO:0015080 silver ion transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0014704 intercalated disc;GO:0016324 apical plasma membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0035434 copper ion transmembrane transport;GO:0001525 angiogenesis;GO:0051259 protein complex oligomerization;GO:0006825 copper ion transport;GO:0015677 copper ion import", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "O15431-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100110000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60397-1", "uniprot_id": [ { "id": "COX7S_HUMAN", "url": "https://www.uniprot.org/uniprot/O60397", "type": "external" } ], "mass": 11841.0, "length": 106, "protein_name": "Putative cytochrome c oxidase subunit 7A3, mitochondrial", "gene_name": "COX7A2P2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "COX7A2P2; COX7A3; COX7AL2; COX7AP2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative cytochrome c oxidase subunit 7A3, mitochondrial; Cytochrome c oxidase subunit VIIa 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); toxic shock syndrome (Disease Ontology:DOID:14115); pancreatic cancer (Disease Ontology:DOID:1793); epilepsy (Disease Ontology:DOID:1826); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); panic disorder (Disease Ontology:DOID:594)", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "30315122;31154438;31324691;31844290;32357974;33392160", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV;GO:0098803 respiratory chain complex", "go_biological_process": "GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0006119 oxidative phosphorylation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "O60397-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95377-1", "uniprot_id": [ { "id": "CXB5_HUMAN", "url": "https://www.uniprot.org/uniprot/O95377", "type": "external" } ], "mass": 31088.0, "length": 273, "protein_name": "Gap junction beta-5 protein", "gene_name": "GJB5", "organism": "Human", "refseq_name": "gap junction beta-5 protein", "refseq_ac": [ { "id": "NP_005259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005259", "type": "external" } ], "gene_names_uniprotkb": "GJB5", "gene_names_refseq": "CX31.1; GJB5", "protein_names_uniprotkb": "Gap junction beta-5 protein; Connexin-31.1; Cx31.1", "protein_names_refseq": "gap junction beta-5 protein; gap junction protein, beta 5 (connexin 31.1); gap junction protein, beta 5, 31.1kDa; gap junctional protein cx31.1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2709); (R-HSA-190861)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "10191254;15536180;17200141;1850831;21777377;25388970;34240406;35051231;38533727;7929580;9843209", "class_list": "", "function": "Autophagy contributed to Cx31.1 degradation, and clathrin might be involved in the autophagy of Cx31.1., [RefSeq, PubMed]; Cx31.1 can selectively intermix with co-expressed connexins to facilitate its assembly into gap junctions., [RefSeq, PubMed]; GJB5 association with BRAF mutation and survival in cutaneous malignant melanoma., [RefSeq, PubMed]; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell., [UniProtKB]; Overexpression of Cx31.1 in H1299 cells reduced cell proliferation, delayed the G1 phase, inhibited anchorage-independent growth, and suppressed cell migration and invasion. Xenografts of Cx31.1 overexpressing H1299 cells had reduced tumourigenicity., [RefSeq, PubMed]; This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "Q9UPA3", "ec_number_list": [], "go_molecular_function": "GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0008544 epidermis development", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "O95377-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95452-1", "uniprot_id": [ { "id": "CXB6_HUMAN", "url": "https://www.uniprot.org/uniprot/O95452", "type": "external" } ], "mass": 30387.0, "length": 261, "protein_name": "Gap junction beta-6 protein", "gene_name": "GJB6", "organism": "Human", "refseq_name": "gap junction beta-6 protein", "refseq_ac": [ { "id": "NP_001103689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103689", "type": "external" } ], "gene_names_uniprotkb": "GJB6", "gene_names_refseq": "CX30; DFNA3B; DFNA3; DFNB1B; ECTD2; ED2; EDH; GJB6; HED2; HED", "protein_names_uniprotkb": "Gap junction beta-6 protein; Connexin-30; Cx30", "protein_names_refseq": "connexin 30; ectodermal dysplasia 2, hidrotic (Clouston syndrome); gap junction beta-6 protein; gap junction protein, beta 6, 30kDa", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 1A (Disease Ontology:DOID:0110475); autosomal recessive nonsyndromic deafness 1B (Disease Ontology:DOID:0110476); autosomal dominant nonsyndromic deafness 3B (Disease Ontology:DOID:0110565); Clouston syndrome (Disease Ontology:DOID:14693); status epilepticus (Disease Ontology:DOID:1824); ectodermal dysplasia (Disease Ontology:DOID:2121); transient cerebral ischemia (Disease Ontology:DOID:224); borna disease (Disease Ontology:DOID:5154); ureteral obstruction (Disease Ontology:DOID:5199)", "pathway": " (hsa:10804); (R-HSA-190861)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10191254;10471490;10610709;11017065;11237011;11807148;11874494;15536180;15792634;15994881;16303743;17200141;1850831;19416251;30429286;31848261;32843087;33096615;34199748;35051231;7929580", "class_list": "", "function": "A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia. Publication Status: Online-Only, [RefSeq, PubMed]; Dysregulation of Connexin Expression Plays a Pivotal Role in Psoriasis. Publication Status: Online-Only, [RefSeq, PubMed]; GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort. Publication Status: Online-Only, [RefSeq, PubMed]; Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]., [RefSeq]; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQN2;Q5Q1H9;Q5Q1I0;Q5Q1I1;Q5T5U0;Q8IUP0", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0051015 actin filament binding;GO:0048487 beta-tubulin binding;GO:1903763 gap junction channel activity involved in cell communication by electrical coupling;GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005884 actin filament;GO:0030054 cell junction;GO:0005921 gap junction;GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0055085 transmembrane transport;GO:0007605 sensory perception of sound;GO:0016264 gap junction assembly;GO:0035633 maintenance of blood-brain barrier", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "O95452-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05177-1", "uniprot_id": [ { "id": "CP1A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P05177", "type": "external" } ], "mass": 58407.0, "length": 516, "protein_name": "Cytochrome P450 1A2", "gene_name": "CYP1A2", "organism": "Human", "refseq_name": "cytochrome P450 1A2", "refseq_ac": [ { "id": "NP_000752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000752", "type": "external" } ], "gene_names_uniprotkb": "CYP1A2", "gene_names_refseq": "CP12; CYP1A2; CYPIA2; P3-450; P450(PA)", "protein_names_uniprotkb": "Cytochrome P450 1A2; 1.14.14.1; 4.2.1.152; CYPIA2; Cholesterol 25-hydroxylase; Cytochrome P(3)450; Cytochrome P450 4; Cytochrome P450-P3; Hydroperoxy icosatetraenoate dehydratase", "protein_names_refseq": "P450 form 4; aryl hydrocarbon hydroxylase; cholesterol 25-hydroxylase; cytochrome P(3)450; cytochrome P450 1A2; cytochrome P450 4; cytochrome P450, family 1, subfamily A, polypeptide 2; cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2; cytochrome P450-P3; dioxin-inducible P3-450; flavoprotein-linked monooxygenase; hydroperoxy icosatetraenoate dehydratase; microsomal monooxygenase; xenobiotic monooxygenase", "tax_id": 9606, "disease": "endometrial cancer (Disease Ontology:DOID:1380); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); porphyria cutanea tarda (Disease Ontology:DOID:3132); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:1544); (R-HSA-156581); (R-HSA-211957); (R-HSA-2142670); (R-HSA-2142816); (R-HSA-5423646); (R-HSA-9018681); (R-HSA-9027307)", "pathway_count": 8, "publication_count": 103, "publication_id_list": "10331075;10514445;10644686;10681376;10978155;11207026;11295848;11409944;11511179;11555828;11904223;12144777;12163696;12432928;12468260;12590139;12590576;12727802;12865317;12933810;13981612;14563787;14660610;14725854;1504254;15096040;15258110;15469410;15611369;15643613;15770072;15788214;16267626;16385575;16407288;16424216;1643250;16522833;16609368;16970545;17311915;18357469;18416522;18539146;1934265;19463;19818771;19965576;19965612;20166139;21068195;21112969;21193388;21576599;21839062;21867913;23956430;24734162;25200603;25247845;2573352;2575218;26988023;26992070;27570878;27862975;29557506;3000715;31154438;32325220;32387766;32502341;3372534;3462722;35051231;3517618;35580925;36239290;36701157;3681487;37511239;3755823;37906419;3931076;7625847;7764673;7766804;8439558;8553685;8631948;8703034;8812420;8968737;8975785;9111224;9175157;9278457;9435160;9576847;9586999;9618440;9866708;9884316", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:10681376, PubMed:11555828, PubMed:12865317, PubMed:19965576, PubMed:9435160). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:10681376, PubMed:11555828, PubMed:12865317, PubMed:19965576, PubMed:9435160). Catalyzes the hydroxylation of carbon-hydrogen bonds (PubMed:11555828, PubMed:12865317). Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E2 (PubMed:11555828, PubMed:12865317). Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulator of cellular cholesterol homeostasis (PubMed:21576599). May act as a major enzyme for all-trans retinoic acid biosynthesis in the liver. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid (PubMed:10681376). Primarily catalyzes stereoselective epoxidation of the last double bond of polyunsaturated fatty acids (PUFA), displaying a strong preference for the (R,S) stereoisomer (PubMed:19965576). Catalyzes bisallylic hydroxylation and omega-1 hydroxylation of PUFA (PubMed:9435160). May also participate in eicosanoids metabolism by converting hydroperoxide species into oxo metabolites (lipoxygenase-like reaction, NADPH-independent) (PubMed:21068195). Plays a role in the oxidative metabolism of xenobiotics. Catalyzes the N-hydroxylation of heterocyclic amines and the O-deethylation of phenacetin (PubMed:14725854). Metabolizes caffeine via N3-demethylation (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CYP1A2 Genetic Variation, Coffee Intake, and Kidney Dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Determination of SNP frequencies in the CYP1A1_CYP1A2 locus., [RefSeq, PubMed]; Habitual coffee consumption and risk of dementia in older persons: modulation by CYP1A2 polymorphism., [RefSeq, PubMed]; Hydration and Structural Adaptations of the Human CYP1A1, CYP1A2, and CYP1B1 Active Sites by Molecular Dynamics Simulations. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The influence of the CYP1A2-163 C>A polymorphism on the hemostatic response to exercise following caffeine supplementation., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q16754;Q6NWU3;Q6NWU5;Q9BXX7;Q9UK49", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "1.14.13.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.n7", "type": "external" }, { "id": "1.14.14.55", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.55", "type": "external" }, { "id": "1.14.14.56", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.56", "type": "external" }, { "id": "1.14.14.73", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.73", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.14.14.14", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.14", "type": "external" }, { "id": "1.14.14.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.51", "type": "external" }, { "id": "1.14.14.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.52", "type": "external" }, { "id": "1.14.14.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.53", "type": "external" }, { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" }, { "id": "5.3.99.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.5", "type": "external" }, { "id": "1.14.14.75", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.75", "type": "external" }, { "id": "5.4.4.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.4.7", "type": "external" }, { "id": "1.14.14.74", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.74", "type": "external" }, { "id": "1.14.14.78", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.78", "type": "external" }, { "id": "1.14.14.79", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.79", "type": "external" }, { "id": "1.14.14.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.94", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "type": "external" }, { "id": "5.3.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.4", "type": "external" }, { "id": "1.14.14.130", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.130", "type": "external" } ], "go_molecular_function": "GO:0101020 estrogen 16-alpha-hydroxylase activity;GO:0005506 iron ion binding;GO:0009055 electron transfer activity;GO:0019899 enzyme binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0016098 monoterpenoid metabolic process;GO:0097267 omega-hydroxylase P450 pathway;GO:0008203 cholesterol metabolic process;GO:0042572 retinol metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "P05177-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07316-1", "uniprot_id": [ { "id": "CRGB_HUMAN", "url": "https://www.uniprot.org/uniprot/P07316", "type": "external" } ], "mass": 20908.0, "length": 175, "protein_name": "Gamma-crystallin B", "gene_name": "CRYGB", "organism": "Human", "refseq_name": "gamma-crystallin B", "refseq_ac": [ { "id": "NP_005201", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005201", "type": "external" } ], "gene_names_uniprotkb": "CRYGB; CRYG2", "gene_names_refseq": "CRYG2; CRYGB; CTRCT39", "protein_names_uniprotkb": "Gamma-crystallin B; Gamma-B-crystallin; Gamma-crystallin 1-2", "protein_names_refseq": "crystallin, gamma 1-2; gamma-crystallin B", "tax_id": 9606, "disease": "cataract 39 multiple types (Disease Ontology:DOID:0110236)", "pathway": " (hsa:1419)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "12011157;12060738;12507494;12676897;14517968;17628592;23288985;26552302;2777080;28013006;29242379;32157095;4065573", "class_list": "", "function": "Allelic variant frequency of the gamma-crystallin promoter (g(-47) ->a) affects the level of its expression in platelets from cataract patients., [RefSeq, PubMed]; Complex heterogeneous mutations in the gammaB crystallin gene have been described resulting in autosomal dominant congenital cataracts with three distinct phenotypes (lamellar, anterior polar, and complete cataracts) in the same family., [RefSeq, PubMed]; Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]., [RefSeq]; Crystallins are the dominant structural components of the vertebrate eye lens., [UniProtKB]; Glycation of human gammaB-crystallin, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q17RB5;Q53ST2", "ec_number_list": [], "go_molecular_function": "GO:0005212 structural constituent of eye lens", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007601 visual perception;GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P07316-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true } ]