{ "uniprot_canonical_ac": "P10826-1", "uniprot_ac": "P10826", "uniprot_id": "RARB_HUMAN", "mass": { "chemical_mass": 50489.0, "monoisotopic_mass": 50489.0 }, "refseq": { "ac": "NP_000956", "name": "retinoic acid receptor beta isoform 1", "summary": "This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000956" }, "gene_names": [ { "name": "RARB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10826", "id": "P10826" }, { "name": "HAP; MCOPS12; NR1B2; RARbeta; RARbeta1; RRB2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000956", "id": "NP_000956" }, { "name": "HAP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10826", "id": "P10826" }, { "name": "NR1B2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10826", "id": "P10826" }, { "name": "RARB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000956", "id": "NP_000956" } ], "protein_names": [ { "name": "Retinoic acid receptor beta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10826" }, { "name": "HBV-activated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10826" }, { "name": "Nuclear receptor subfamily 1 group B member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10826" }, { "name": "RAR-beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10826" }, { "name": "RAR-epsilon", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10826" }, { "name": "retinoic acid receptor beta isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000956", "id": "NP_000956" }, { "name": "retinoic acid receptor, beta polypeptide; hepatitis B virus activated protein; HBV-activated protein; RAR-epsilon; RAR-beta; nuclear receptor subfamily 1 group B member 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000956", "id": "NP_000956" } ], "function": [ { "annotation": "Downstream codons in mRNAs initiate translation of a protein isoform that disrupts retinoid-activated transcription", "evidence": [ { "database": "RefSeq", "id": "NP_000956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000956" }, { "database": "PubMed", "id": "12118004", "url": "https://glygen.org/publication/PubMed/12118004" } ] }, { "annotation": "In H358 lung cancer cells transiently transfected with RARbeta1', RA treatment restored target gene expression compared with that in vector-transfected cells and suppressed cell growth compared with that in untreated cells.", "evidence": [ { "database": "RefSeq", "id": "NP_000956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000956" }, { "database": "PubMed", "id": "16288117", "url": "https://glygen.org/publication/PubMed/16288117" } ] }, { "annotation": "Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors (PubMed:12554770). The RXRA/RARB heterodimer can act as a repressor on the DR1 element and as an activator on the DR5 element (PubMed:29021580). In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826#function" }, { "database": "PubMed", "id": "12554770", "url": "https://glygen.org/publication/PubMed/12554770" }, { "database": "PubMed", "id": "29021580", "url": "https://glygen.org/publication/PubMed/29021580" }, { "database": "UniProtKB", "id": "P22605", "url": "https://www.uniprot.org/uniprot/P22605#function" } ] }, { "annotation": "This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_000956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000956" } ] } ], "disease": [ { "disease_id": "DOID:0111800", "recommended_name": { "id": "DOID:0111800", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111800", "name": "syndromic microphthalmia 12", "description": "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2." }, "synonyms": [ { "id": "DOID:0111800", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111800", "name": "MCOPS12", "description": "" }, { "id": "DOID:0111800", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111800", "name": "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects", "description": "" }, { "id": "MONDO:0014229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014229", "name": "microphthalmia, syndromic 12", "description": "Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome." }, { "id": "MONDO:0014229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014229", "name": "RARB syndromic microphthalmia", "description": "" }, { "id": "MONDO:0014229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014229", "name": "microphthalmia, syndromic 12", "description": "" }, { "id": "MONDO:0014229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014229", "name": "microphthalmia, syndromic type 12", "description": "" }, { "id": "MONDO:0014229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014229", "name": "syndromic microphthalmia caused by mutation in RARB", "description": "" }, { "id": "MONDO:0014229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014229", "name": "MCOPS12", "description": "" }, { "id": "MONDO:0014229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014229", "name": "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects", "description": "" }, { "id": "MONDO:0014229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014229", "name": "syndromic microphthalmia-12", "description": "" }, { "id": "MIM:615524", "resource": "MIM", "url": "https://www.omim.org/entry/615524", "name": "Microphthalmia, syndromic, 12", "description": "Microphthalmia, syndromic, 12" } ], "evidence": [ { "id": "615524", "database": "MIM", "url": "https://www.omim.org/entry/615524" } ] } ], "snv": [ { "evidence": [ { "id": "rs758726288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758726288" }, { "id": "rs758726288", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758726288" }, { "id": "rs758726288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758726288" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 134, "end_pos": 134, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "3", "chr_pos": "25501256", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746760676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746760676" }, { "id": "rs746760676", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746760676" }, { "id": "rs746760676", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746760676" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 162, "end_pos": 162, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDR->NDT).", "chr_id": "3", "chr_pos": "25569773", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R162", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1331686882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1331686882" }, { "id": "rs1331686882", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1331686882" }, { "id": "rs1331686882", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1331686882#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 186, "end_pos": 186, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "3", "chr_pos": "25569844", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D186", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1236884576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1236884576" }, { "id": "rs1236884576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1236884576" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2, "end_pos": 2, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TTS->NTS).", "chr_id": "3", "chr_pos": "25174402", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751955933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751955933" }, { "id": "rs751955933", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751955933" }, { "id": "rs751955933", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751955933" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 426, "end_pos": 426, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "3", "chr_pos": "25596525", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S426", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770285512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770285512" }, { "id": "rs770285512", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770285512" }, { "id": "rs770285512", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770285512" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 65, "end_pos": 65, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "3", "chr_pos": "25461208", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S65", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 106, "end_pos": 106, "sequence_org": "E", "sequence_mut": "A", "comment": "As a heterodimer with RXRA, abolishes transcriptional repression on DR1, reduces transcriptional activation on DR5 and binding affinity for DR1 and DR5 DNA elements.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" }, { "database": "PubMed", "id": "29021580", "url": "https://glygen.org/publication/PubMed/29021580" } ] }, { "start_pos": 113, "end_pos": 113, "sequence_org": "R", "sequence_mut": "A", "comment": "As a heterodimer with RXRA, abolishes transcriptional repression on DR1 and reduces transcriptional activation on DR5.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" }, { "database": "PubMed", "id": "29021580", "url": "https://glygen.org/publication/PubMed/29021580" } ] }, { "start_pos": 120, "end_pos": 120, "sequence_org": "M", "sequence_mut": "E", "comment": "As a heterodimer with RXRA, reduces transcriptional repression on DR1 and reduces transcriptional activation on DR5. Reduces binding affinity for DR1 and DR5 DNA elements; when associated with E-366.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" }, { "database": "PubMed", "id": "29021580", "url": "https://glygen.org/publication/PubMed/29021580" } ] }, { "start_pos": 123, "end_pos": 123, "sequence_org": "T", "sequence_mut": "V", "comment": "Reduces transcriptional repression on DR1 and reduces transcriptional activation on DR5; when associated with E-369 and E-370.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ] }, { "start_pos": 188, "end_pos": 188, "sequence_org": "T", "sequence_mut": "I", "comment": "No effect on transcriptional activation in the absence of hormone.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" }, { "database": "PubMed", "id": "12554770", "url": "https://glygen.org/publication/PubMed/12554770" } ] }, { "start_pos": 191, "end_pos": 191, "sequence_org": "I", "sequence_mut": "V", "comment": "No effect on transcriptional activation in the absence of hormone.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" }, { "database": "PubMed", "id": "12554770", "url": "https://glygen.org/publication/PubMed/12554770" } ] }, { "start_pos": 222, "end_pos": 222, "sequence_org": "L", "sequence_mut": "I", "comment": "Reduced transcriptional activation in the absence of hormone. Even greater reduction in transcriptional activation in the absence of hormone; when associated with D-223 or S-232. Great reduction in transcriptional activation in the absence of hormone; when associated with D-223 and S-232.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" }, { "database": "PubMed", "id": "12554770", "url": "https://glygen.org/publication/PubMed/12554770" } ] }, { "start_pos": 223, "end_pos": 223, "sequence_org": "G", "sequence_mut": "D", "comment": "Greatly reduced transcriptional activation in the absence of hormone. Even greater reduction in transcriptional activation in the absence of hormone; when associated with I-222 or S-232. Great reduction in transcriptional activation in the absence of hormone; when associated with I-222 and S-232.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" }, { "database": "PubMed", "id": "12554770", "url": "https://glygen.org/publication/PubMed/12554770" } ] }, { "start_pos": 232, "end_pos": 232, "sequence_org": "A", "sequence_mut": "S", "comment": "Reduced transcriptional activation in the absence of hormone. Some further reduction of transcriptional activity in the absence of hormone; when associated with I-222 or D-223. Great reduction in transcriptional activation in the absence of hormone; when associated with I-222 and D-223.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" }, { "database": "PubMed", "id": "12554770", "url": "https://glygen.org/publication/PubMed/12554770" } ] }, { "start_pos": 365, "end_pos": 365, "sequence_org": "K", "sequence_mut": "E", "comment": "As a heterodimer with RXRA, reduces transcriptional repression on DR1 and reduces transcriptional activation on DR5. Reduces transcriptional repression on DR1 and reduces transcriptional activation on DR5; when associated with E-366 and E-367.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" }, { "database": "PubMed", "id": "29021580", "url": "https://glygen.org/publication/PubMed/29021580" } ] }, { "start_pos": 366, "end_pos": 366, "sequence_org": "R", "sequence_mut": "E", "comment": "As a heterodimer with RXRA, reduces binding affinity for DR5 DNA element and no change in binding to DR1. Reduces transcriptional repression on DR1 and reduces transcriptional activation on DR5; when associated with E-365 and E-367. Reduces binding affinity for DR1 and DR5 DNA elements; when associated with E-120.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" }, { "database": "PubMed", "id": "29021580", "url": "https://glygen.org/publication/PubMed/29021580" } ] }, { "start_pos": 367, "end_pos": 367, "sequence_org": "R", "sequence_mut": "E", "comment": "As a heterodimer with RXRA, reduces transcriptional repression on DR1 and reduces transcriptional activation on DR5. Reduces transcriptional repression on DR1 and reduces transcriptional activation on DR5; when associated with E-365 and E-366.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" }, { "database": "PubMed", "id": "29021580", "url": "https://glygen.org/publication/PubMed/29021580" } ] }, { "start_pos": 369, "end_pos": 369, "sequence_org": "S", "sequence_mut": "E", "comment": "Reduces transcriptional repression on DR1 and reduces transcriptional activation on DR5; when associated with V-123 and E-370.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ] }, { "start_pos": 370, "end_pos": 370, "sequence_org": "K", "sequence_mut": "E", "comment": "Reduces transcriptional repression on DR1 and reduced transcriptional activation on DR5; when associated with V-123 and E-369.", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "74.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000077092", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077092" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "62.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000077092", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077092" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000077092", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077092" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "61.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000077092", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077092" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000077092", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077092" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "72.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000077092", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077092" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "56.3", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000077092", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077092" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "75.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000077092", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077092" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "77.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000077092", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077092" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "60.57", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000077092", "url": 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P10826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10826" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10826" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"https://www.uniprot.org/uniprot/P10826-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTTSGHACPVPAVNGHMTHYPATPYPLLFPPVIGGLSLPPLHGLHGHPPPSGCSTPSPATIETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETSKQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLGKYTTNSSADHRVRLDLGLWDKFSELATKCIIKIVEFAKRLPGFTGLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFTFANQLLPLEMDDTETGLLSAICLICGDRQDLEEPTKVDKLQEPLLEALKIYIRKRRPSKPHMFPKILMKITDLRSISAKGAERVITLKMEIPGSMPPLIQEMLENSEGHEPLTPSSSGNTAEHSPSISPSSVENSGVSQSPLVQ", "length": 455, "header": "sp|P10826-1|RARB_HUMAN Isoform 1 of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=2 CANONICAL=P10826-1" }, "isoforms": [ { "isoform_ac": "A0A8I5KNZ0-1", "url": "", "sequence": { "sequence": "MFDCMDVLSVSPGQILDFYTASPSSCMLQEKALKACFSGLTQTEWQHRHTAQSIETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKERKET", "length": 107, "header": "tr|A0A8I5KNZ0-1|A0A8I5KNZ0_HUMAN Computationally mapped isoform of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=1 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25462323, "end_pos": 25428732, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692640.1", "url": "https://www.ensembl.org/id/ENST00000692640.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508498.1", "url": "https://www.ensembl.org/id/ENSP00000508498.1" } ] } }, { "isoform_ac": "A0A8I5KQX3-1", "url": "", "sequence": { "sequence": "GFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETSKQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLGKYTTNSSADHRVRLDLGLWDKFSELATKCIIKIVEFAKRLPGFTGLTIADQITLLKAACLDILLPDDDSL", "length": 167, "header": "tr|A0A8I5KQX3-1|A0A8I5KQX3_HUMAN Computationally mapped isoform of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=1 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25582523, "end_pos": 25501182, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689700.1", "url": "https://www.ensembl.org/id/ENST00000689700.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510200.1", "url": "https://www.ensembl.org/id/ENSP00000510200.1" } ] } }, { "isoform_ac": "A0A8I5KSR9-1", "url": "", "sequence": { "sequence": "XIETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETSKQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLEFQC", "length": 150, "header": "tr|A0A8I5KSR9-1|RARB_HUMAN Computationally mapped isoform of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=1 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25580557, "end_pos": 25461193, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691580.1", "url": "https://www.ensembl.org/id/ENST00000691580.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510073.1", "url": "https://www.ensembl.org/id/ENSP00000510073.1" } ] } }, { "isoform_ac": "A0A8I5KUH8-1", "url": "", "sequence": { "sequence": "GFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETSKQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLGKYTTTARTLRNRQK", "length": 111, "header": "tr|A0A8I5KUH8-1|A0A8I5KUH8_HUMAN Computationally mapped isoform of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=1 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25594549, "end_pos": 25501182, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693580.1", "url": "https://www.ensembl.org/id/ENST00000693580.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510405.1", "url": "https://www.ensembl.org/id/ENSP00000510405.1" } ] } }, { "isoform_ac": "A0A8I5KVJ9-1", "url": "", "sequence": { "sequence": "MFDCMDVLSVSPGQILDFYTASPSSCMLQEKALKACFSGLTQTEWQHRHTAQCSN", "length": 55, "header": "tr|A0A8I5KVJ9-1|A0A8I5KVJ9_HUMAN Computationally mapped isoform of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=1 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25461196, "end_pos": 25428732, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685523.1", "url": "https://www.ensembl.org/id/ENST00000685523.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508765.1", "url": "https://www.ensembl.org/id/ENSP00000508765.1" } ] } }, { "isoform_ac": "A0A8I5KVN9-1", "url": "", "sequence": { "sequence": "MTTSGHACPVPAVNGHMTHYPATPYPLLFPPVIGGLSLPPLHGLHGHPPPSGCSTPSPATIETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKE", "length": 156, "header": "tr|A0A8I5KVN9-1|A0A8I5KVN9_HUMAN Computationally mapped isoform of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=4 SV=1 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25501322, "end_pos": 25174398, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455576.2", "url": "https://www.ensembl.org/id/ENST00000455576.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000508527.1", "url": "https://www.ensembl.org/id/ENSP00000508527.1" } ] } }, { "isoform_ac": "A0A8I5KVP8-1", "url": "", "sequence": { "sequence": "MFDCMDVLSVSPGQILDFYTASPSSCMLQEKALKACFSGLTQTEWQHRHTAQSIETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETSKQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLGKYTTNSSADHRVRLDLGLWDKFSELATKCIIKIVEFAKRLPGFTGLTIADQITLLKAACLDILVQSV", "length": 266, "header": "tr|A0A8I5KVP8-1|A0A8I5KVP8_HUMAN Computationally mapped isoform of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=1 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25596431, "end_pos": 25428732, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687083.1", "url": "https://www.ensembl.org/id/ENST00000687083.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509681.1", "url": "https://www.ensembl.org/id/ENSP00000509681.1" } ] } }, { "isoform_ac": "A0A8I5KWP3-1", "url": "", "sequence": { "sequence": "MFDCMDVLSVSPGQILDFYTASPSSCMLQEKALKACFSGLTQTEWQHRHTAQSIETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETSKQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLGKYTTNSSADHRVRLDLGLWDKFSELATKCIIKIVEFAKRLPGFTGLTIADQITLLKAACLDILLLPLEMDDTETGLLSAICLICGDRQDLEEPTKVDKLQEPLLEALKIYIRKRRPSKPHMFPKILMKITDLRSISAKGAERVITLKMEIPGSMPPLIQEMLENSEGHEPLTPSSSGNTAEHSPSISPSSVENSGVSQSPLVQ", "length": 402, "header": "tr|A0A8I5KWP3-1|A0A8I5KWP3_HUMAN Computationally mapped isoform of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=1 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25596613, "end_pos": 25428732, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691912.1", "url": "https://www.ensembl.org/id/ENST00000691912.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510520.1", "url": "https://www.ensembl.org/id/ENSP00000510520.1" } ] } }, { "isoform_ac": "A0A8I5KXD0-1", "url": "", "sequence": { "sequence": "MFDCMDVLSVSPGQILDFYTASPSSCMLQEKALKACFSGLTQTEWQHRHTAQSIETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKE", "length": 149, "header": "tr|A0A8I5KXD0-1|A0A8I5KXD0_HUMAN Computationally mapped isoform of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=1 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25501323, "end_pos": 25428732, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000479097.6", "url": "https://www.ensembl.org/id/ENST00000479097.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000508755.1", "url": "https://www.ensembl.org/id/ENSP00000508755.1" } ] } }, { "isoform_ac": "A0A8I5KXT3-1", "url": "", "sequence": { "sequence": "MFDCMDVLSVSPGQILDFYTASPSSCMLQEKALKACFSGLTQTEWQHRHTAQSIETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETSKQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLGKYTTNSSADHRVRLDLGLWDKFSELATKCIIKIVEFAKRLPGFTGLTIADQITLLKAACLDILTARTLRNRQK", "length": 272, "header": "tr|A0A8I5KXT3-1|A0A8I5KXT3_HUMAN Computationally mapped isoform of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=1 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25594549, "end_pos": 25428732, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000480001.6", "url": "https://www.ensembl.org/id/ENST00000480001.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000510647.1", "url": "https://www.ensembl.org/id/ENSP00000510647.1" } ] } }, { "isoform_ac": "D6RBI3-1", "url": "", "sequence": { "sequence": "MTTSGHACPVPAVNGHMTHYPATPYPLLFPPVIGGLSLPPLHGLHGHPPPSGCSTPSPATIETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETSKQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLGKYTTNSSADHRVRLDLGLWDKFSELATKCIIKIVEFAKRLPGFTGLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFTFANQLLPLEMDDTETGLLSAICLICGDRQDLEEPTKVDKLQEPLLEALKIYIRKRRPSKPHMFPKILMKITDLRSISAKGAERVITLKMEI", "length": 402, "header": "tr|D6RBI3-1|D6RBI3_HUMAN Computationally mapped isoform of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=1 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25596613, "end_pos": 25174398, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383772", "url": "https://www.ensembl.org/id/ENST00000383772" }, { "database": "Ensembl Peptide", "id": "ENSP00000373282", "url": "https://www.ensembl.org/id/ENSP00000373282" } ] } }, { "isoform_ac": "P10826-1", "url": "", "sequence": { "sequence": "MTTSGHACPVPAVNGHMTHYPATPYPLLFPPVIGGLSLPPLHGLHGHPPPSGCSTPSPATIETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETSKQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLGKYTTNSSADHRVRLDLGLWDKFSELATKCIIKIVEFAKRLPGFTGLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFTFANQLLPLEMDDTETGLLSAICLICGDRQDLEEPTKVDKLQEPLLEALKIYIRKRRPSKPHMFPKILMKITDLRSISAKGAERVITLKMEIPGSMPPLIQEMLENSEGHEPLTPSSSGNTAEHSPSISPSSVENSGVSQSPLVQ", "length": 455, "header": "sp|P10826-1|RARB_HUMAN Isoform 1 of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=2 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25596613, "end_pos": 25174398, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688892.1", "url": "https://www.ensembl.org/id/ENST00000688892.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510650.1", "url": "https://www.ensembl.org/id/ENSP00000510650.1" } ] } }, { "isoform_ac": "P10826-2", "url": "", "sequence": { "sequence": "MFDCMDVLSVSPGQILDFYTASPSSCMLQEKALKACFSGLTQTEWQHRHTAQSIETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETSKQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLGKYTTNSSADHRVRLDLGLWDKFSELATKCIIKIVEFAKRLPGFTGLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFTFANQLLPLEMDDTETGLLSAICLICGDRQDLEEPTKVDKLQEPLLEALKIYIRKRRPSKPHMFPKILMKITDLRSISAKGAERVITLKMEIPGSMPPLIQEMLENSEGHEPLTPSSSGNTAEHSPSISPSSVENSGVSQSPLVQ", "length": 448, "header": "sp|P10826-2|RARB_HUMAN Isoform 2 of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=2 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25596613, "end_pos": 25428732, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000330688.9", "url": "https://www.ensembl.org/id/ENST00000330688.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000332296.4", "url": "https://www.ensembl.org/id/ENSP00000332296.4" } ] } }, { "isoform_ac": "P10826-3", "url": "", "sequence": { "sequence": "MIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETSKQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLGKYTTNSSADHRVRLDLGLWDKFSELATKCIIKIVEFAKRLPGFTGLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFTFANQLLPLEMDDTETGLLSAICLICGDRQDLEEPTKVDKLQEPLLEALKIYIRKRRPSKPHMFPKILMKITDLRSISAKGAERVITLKMEIPGSMPPLIQEMLENSEGHEPLTPSSSGNTAEHSPSISPSSVENSGVSQSPLVQ", "length": 336, "header": "sp|P10826-3|RARB_HUMAN Isoform 3 of Retinoic acid receptor beta OS=Homo sapiens OX=9606 GN=RARB PE=1 SV=2 CANONICAL=P10826-1" }, "locus": { "chromosome": "3", "start_pos": 25596613, "end_pos": 25501212, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437042.7", "url": "https://www.ensembl.org/id/ENST00000437042.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000398840.2", "url": "https://www.ensembl.org/id/ENSP00000398840.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 369, "start_aa": "Ser", "end_pos": 369, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser369", "evidence": [ { "id": "P10826", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10826" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "P10826", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P10826" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 369, "start_aa": "Ser", "end_pos": 369, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser369", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "phosphorylation": [ { "start_pos": 77, "end_pos": 77, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P10826", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10826" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser77" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex.", "journal": "Nature", "date": "1999", "authors": "Rachez C, Lemon BD, Suldan Z, Bromleigh V, Gamble M, Naar AM, Erdjument-Bromage H, Tempst P, Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "10235266", "url": "https://glygen.org/publication/PubMed/10235266" } ] }, { "title": "Elevated retinoic acid receptor beta(4) protein in human breast tumor cells with nuclear and cytoplasmic localization.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1999", "authors": "Sommer KM, Chen LI, Treuting PM, Smith LT, Swisshelm K", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "reference": [ { "type": "PubMed", "id": "10411930", "url": "https://glygen.org/publication/PubMed/10411930" } ] }, { "title": "Expression, purification, and crystal structure determination of recombinant human epidermal-type fatty acid binding protein.", "journal": "Biochemistry", "date": "1999", "authors": "Hohoff C, Borchers T, Rustow B, Spener F, van Tilbeurgh H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5362517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5362517" } ], "reference": [ { "type": "PubMed", "id": "10493790", "url": "https://glygen.org/publication/PubMed/10493790" } ] }, { "title": "Multimeric Coactivator Complexes for Steroid/Nuclear Receptors.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "1999", "authors": "Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "10542397", "url": "https://glygen.org/publication/PubMed/10542397" } ] }, { "title": "Recruitment of nuclear receptor corepressor and coactivator to the retinoic acid receptor by retinoid ligands. Influence of DNA-heterodimer interactions.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Klein ES, Wang JW, Khalifa B, Gavigan SA, Chandraratna RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "10777502", "url": "https://glygen.org/publication/PubMed/10777502" } ] }, { "title": "Biological roles and mechanistic actions of co-repressor complexes.", "journal": "Journal of cell science", "date": "2002", "authors": "Jepsen K, Rosenfeld MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "11865025", "url": "https://glygen.org/publication/PubMed/11865025" } ] }, { "title": "Direct channeling of retinoic acid between cellular retinoic acid-binding protein II and retinoic acid receptor sensitizes mammary carcinoma cells to retinoic acid-induced growth arrest.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Budhu AS, Noy N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5362517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5362517" } ], "reference": [ { "type": "PubMed", "id": "11909957", "url": "https://glygen.org/publication/PubMed/11909957" } ] }, { "title": "Downstream codons in the retinoic acid receptor beta -2 and beta -4 mRNAs initiate translation of a protein isoform that disrupts retinoid-activated transcription.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Chen LI, Sommer KM, Swisshelm K", "evidence": [ { "database": "RefSeq", "id": "NP_000956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000956" } ], "reference": [ { "type": "PubMed", "id": "12118004", "url": "https://glygen.org/publication/PubMed/12118004" } ] }, { "title": "Retinoic acid receptors beta and gamma do not repress, but instead 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "nuclear retinoid X receptor binding", "id": "GO:0046965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046965", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "heterocyclic compound binding", "id": "GO:1901363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901363", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 23, "go_terms": [ { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "negative regulation of stem cell proliferation", "id": "GO:2000647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000647", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "glandular epithelial cell development", "id": "GO:0002068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002068", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "embryonic eye morphogenesis", "id": "GO:0048048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048048", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "P10826", "url": "https://www.uniprot.org/uniprot/P10826" } ], 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