{ "uniprot_canonical_ac": "P10589-1", "uniprot_ac": "P10589", "uniprot_id": "COT1_HUMAN", "mass": { "chemical_mass": 46156.0, "monoisotopic_mass": 46156.0 }, "refseq": { "ac": "NP_005645", "name": "COUP transcription factor 1 isoform 1", "summary": "The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645" }, "gene_names": [ { "name": "NR2F1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10589", "id": "P10589" }, { "name": "BBOAS; BBSOAS; COUP-TFI; COUPTF1; EAR-3; EAR3; ERBAL3; SVP44; TCFCOUP1; TFCOUP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645", "id": "NP_005645" }, { "name": "EAR3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10589", "id": "P10589" }, { "name": "ERBAL3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10589", "id": "P10589" }, { "name": "NR2F1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645", "id": "NP_005645" }, { "name": "TFCOUP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10589", "id": "P10589" } ], "protein_names": [ { "name": "COUP transcription factor 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10589" }, { "name": "COUP transcription factor 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645", "id": "NP_005645" }, { "name": "COUP transcription factor I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10589" }, { "name": "COUP-TF I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10589" }, { "name": "COUP-TF1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10589" }, { "name": "EAR-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10589" }, { "name": "Nuclear receptor subfamily 2 group F member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10589" }, { "name": "V-erbA-related protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10589" }, { "name": "transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3); COUP-TF1; COUP-TF I; V-erbA-related protein 3; COUP transcription factor I; chicken ovalbumin upstream promoter-transcription factor I", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645", "id": "NP_005645" } ], "function": [ { "annotation": "Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif. Represses transcriptional activity of LHCG.", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589#function" }, { "database": "PubMed", "id": "10644740", "url": "https://glygen.org/publication/PubMed/10644740" }, { "database": "PubMed", "id": "11682620", "url": "https://glygen.org/publication/PubMed/11682620" } ] }, { "annotation": "METTL3 inhibits inflammation of retinal pigment epithelium cells by regulating NR2F1 in an m(6)A-dependent manner. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645" }, { "database": "PubMed", "id": "35936005", "url": "https://glygen.org/publication/PubMed/35936005" } ] }, { "annotation": "Metabolic Switch Under Glucose Deprivation Leading to Discovery of NR2F1 as a Stimulus of Osteoblast Differentiation.", "evidence": [ { "database": "RefSeq", "id": "NP_005645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645" }, { "database": "PubMed", "id": "35462433", "url": "https://glygen.org/publication/PubMed/35462433" } ] }, { "annotation": "NR2F1 Is a Barrier to Dissemination of Early-Stage Breast Cancer Cells.", "evidence": [ { "database": "RefSeq", "id": "NP_005645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645" }, { "database": "PubMed", "id": "35471456", "url": "https://glygen.org/publication/PubMed/35471456" } ] }, { "annotation": "NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_005645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645" }, { "database": "PubMed", "id": "34837429", "url": "https://glygen.org/publication/PubMed/34837429" } ] }, { "annotation": "Spatial control of astrogenesis progression by cortical arealization genes.", "evidence": [ { "database": "RefSeq", "id": "NP_005645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645" }, { "database": "PubMed", "id": "35818636", "url": "https://glygen.org/publication/PubMed/35818636" } ] }, { "annotation": "The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_005645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645" } ] } ], "disease": [ { "disease_id": "DOID:0112226", "recommended_name": { "id": "DOID:0112226", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112226", "name": "Bosch-Boonstra-Schaaf optic atrophy syndrome", "description": "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15." }, "synonyms": [ { "id": "DOID:0112226", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112226", "name": "BBSOAS", "description": "" }, { "id": "DOID:0112226", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112226", "name": "optic atrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0014320", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014320", "name": "Bosch-Boonstra-Schaaf optic atrophy syndrome", "description": "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." }, { "id": "MONDO:0014320", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014320", "name": "BBSOAS", "description": "" }, { "id": "MONDO:0014320", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014320", "name": "Bosch-Boonstra-Schaaf optic atrophy syndrome", "description": "" }, { "id": "MONDO:0014320", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014320", "name": "optic atrophy-intellectual disability syndrome", "description": "" }, { "id": "MIM:615722", "resource": "MIM", "url": "https://www.omim.org/entry/615722", "name": "Bosch-Boonstra-Schaaf optic atrophy syndrome", "description": "Bosch-Boonstra-Schaaf optic atrophy syndrome" } ], "evidence": [ { "id": "615722", "database": "MIM", "url": "https://www.omim.org/entry/615722" } ] } ], "snv": [ { "evidence": [ { "id": "P10589", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10589" } ], "glycoeffect": [], "start_pos": 400, "end_pos": 400, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "5", "chr_pos": "93593768", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E400", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "84.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "85.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "76.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "72.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "94.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "83.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175745", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175745" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10589", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10589" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", 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"" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": 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"P10589-1", "url": "https://www.uniprot.org/uniprot/P10589-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAMVVSSWRDPQDDVAGGNPGGPNPAAQAARGGGGGAGEQQQQAGSGAPHTPQTPGQPGAPATPGTAGDKGQGPPGSGQSQQHIECVVCGDKSSGKHYGQFTCEGCKSFFKRSVRRNLTYTCRANRNCPIDQHHRNQCQYCRLKKCLKVGMRREAVQRGRMPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSAVEWARNIPFFPDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIETLIRDMLLSGSSFNWPYMSIQCS", "length": 423, "header": "sp|P10589-1|COT1_HUMAN Isoform 1 of COUP transcription factor 1 OS=Homo sapiens OX=9606 GN=NR2F1 PE=1 SV=1 CANONICAL=P10589-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TPV3-1", "url": "", "sequence": { "sequence": "MPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSAVEWARNIPFFPDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIETLIRDMLLSGSSFNWPYMSIQCS", "length": 263, "header": "tr|A0A8V8TPV3-1|COT1_HUMAN Computationally mapped isoform of COUP transcription factor 1 OS=Homo sapiens OX=9606 GN=NR2F1 PE=1 SV=1 CANONICAL=P10589-1" }, "locus": { "chromosome": "5", "start_pos": 93593839, "end_pos": 93587934, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000502982.2", "url": "https://www.ensembl.org/id/ENST00000502982.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000514864.1", "url": "https://www.ensembl.org/id/ENSP00000514864.1" } ] } }, { "isoform_ac": "A0A8V8TQQ6-1", "url": "", "sequence": { "sequence": "MFGYSVQRGRMPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSAVEWARNIPFFPDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIETLIRDMLLSGSSFNWPYMSIQCS", "length": 273, "header": "tr|A0A8V8TQQ6-1|COT1_HUMAN Computationally mapped isoform of COUP transcription factor 1 OS=Homo sapiens OX=9606 GN=NR2F1 PE=1 SV=1 CANONICAL=P10589-1" }, "locus": { "chromosome": "5", "start_pos": 93593839, "end_pos": 93587231, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000512697.2", "url": "https://www.ensembl.org/id/ENST00000512697.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000514863.1", "url": "https://www.ensembl.org/id/ENSP00000514863.1" } ] } }, { "isoform_ac": "F1DAL7-1", "url": "", "sequence": { "sequence": "MAMVVSSWRDPQDDVAGGNPGGPNPAAQSQQHIECVVCGDKSSGKHYGQFTCEGCKSFFKRSVRRNLTYTCRANRNCPIDQHHRNQCQYCRLKKCLKVGMRREAVQRGRMPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSAVEWARNIPFFPDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIETLIRDMLLSGSSFNWPYMSIQCS", "length": 372, "header": "tr|F1DAL7-1|COT1_HUMAN Computationally mapped isoform of COUP transcription factor 1 OS=Homo sapiens OX=9606 GN=NR2F1 PE=1 SV=1 CANONICAL=P10589-1" }, "locus": { "chromosome": "5", "start_pos": 93593839, "end_pos": 93585024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647447.1", "url": "https://www.ensembl.org/id/ENST00000647447.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495740.1", "url": "https://www.ensembl.org/id/ENSP00000495740.1" } ] } }, { "isoform_ac": "F1DAL9-1", "url": "", "sequence": { "sequence": "MAMVVSSWRDPQDDVAGGNPGGPNPAAQTPGQPGAPATPGTAGDKGQGPPGSGQSQQHIECVVCGDKSSGKHYGQFTCEGCKSFFKRSVRRNLTYTCRANRNCPIDQHHRNQCQYCRLKKCLKVGMRREAVQRGRMPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSAVEWARNIPFFPDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIETLIRDMLLSGSSFNWPYMSIQCS", "length": 398, "header": "tr|F1DAL9-1|COT1_HUMAN Computationally mapped isoform of COUP transcription factor 1 OS=Homo sapiens OX=9606 GN=NR2F1 PE=1 SV=1 CANONICAL=P10589-1" }, "locus": { "chromosome": "5", "start_pos": 93593839, "end_pos": 93585024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000615873.2", "url": "https://www.ensembl.org/id/ENST00000615873.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000481517.1", "url": "https://www.ensembl.org/id/ENSP00000481517.1" } ] } }, { "isoform_ac": "P10589-1", "url": "", "sequence": { "sequence": "MAMVVSSWRDPQDDVAGGNPGGPNPAAQAARGGGGGAGEQQQQAGSGAPHTPQTPGQPGAPATPGTAGDKGQGPPGSGQSQQHIECVVCGDKSSGKHYGQFTCEGCKSFFKRSVRRNLTYTCRANRNCPIDQHHRNQCQYCRLKKCLKVGMRREAVQRGRMPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSAVEWARNIPFFPDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIETLIRDMLLSGSSFNWPYMSIQCS", "length": 423, "header": "sp|P10589-1|COT1_HUMAN Isoform 1 of COUP transcription factor 1 OS=Homo sapiens OX=9606 GN=NR2F1 PE=1 SV=1 CANONICAL=P10589-1" }, "locus": { "chromosome": "5", "start_pos": 93593839, "end_pos": 93585024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000327111.8", "url": "https://www.ensembl.org/id/ENST00000327111.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000325819.3", "url": "https://www.ensembl.org/id/ENSP00000325819.3" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Alien, a highly conserved protein with characteristics of a corepressor for members of the nuclear hormone receptor superfamily.", "journal": "Mol. Cell. Biol.", "date": "1999", "authors": "Dressel U, Thormeyer D, Altincicek B, Paululat A, Eggert M, Schneider S, Tenbaum SP, Renkawitz R, Baniahmad A", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "reference": [ { "type": "PubMed", "id": "10207062", "url": "https://glygen.org/publication/PubMed/10207062" } ] }, { "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": "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": "Nuclear orphan receptors regulate transcription of the gene for the human luteinizing hormone receptor.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Zhang Y, Dufau ML", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "reference": [ { "type": "PubMed", "id": "10644740", "url": "https://glygen.org/publication/PubMed/10644740" } ] }, { "title": "EAR2 and EAR3/COUP-TFI regulate transcription of the rat LH receptor.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2001-11", "authors": "Zhang Y, Dufau M L", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "reference": [ { "type": "PubMed", "id": "11682620", "url": "https://glygen.org/publication/PubMed/11682620" } ] }, { "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": "Members of the steroid hormone receptor superfamily interact with TFIIB (S300-II).", "journal": "J. Biol. Chem.", "date": "1992", "authors": "Ing NH, Beekman JM, Tsai SY, Tsai MJ, O'Malley BW", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "reference": [ { "type": "PubMed", "id": "1517211", "url": "https://glygen.org/publication/PubMed/1517211" } ] }, { "title": "A unified nomenclature for protein subunits of mediator complexes linking transcriptional regulators to RNA polymerase II.", "journal": "Molecular cell", "date": "2004", "authors": "Bourbon HM, Aguilera A, Ansari AZ, Asturias FJ, Berk AJ, Bjorklund S, Blackwell TK, Borggrefe T, Carey M, Carlson M, Conaway JW, Conaway RC, Emmons SW, Fondell JD, Freedman LP, Fukasawa T, Gustafsson CM, Han M, He X, Herman PK, Hinnebusch AG, Holmberg S, Holstege FC, Jaehning JA, Kim YJ, Kuras L, Leutz A, Lis JT, Meisterernest M, Naar AM, Nasmyth K, Parvin JD, Ptashne M, Reinberg D, Ronne H, Sadowski I, Sakurai H, Sipiczki M, Sternberg PW, Stillman DJ, Strich R, Struhl K, Svejstrup JQ, Tuck S, Winston F, Roeder RG, Kornberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "15175151", "url": "https://glygen.org/publication/PubMed/15175151" } ] }, { "title": "Dynamic regulation of pol II transcription by the mammalian Mediator complex.", "journal": "Trends in biochemical sciences", "date": "2005", "authors": "Malik S, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "15896744", "url": "https://glygen.org/publication/PubMed/15896744" } ] }, { "title": "Sensors and signals: a coactivator/corepressor/epigenetic code for integrating signal-dependent programs of transcriptional response.", "journal": "Genes & development", "date": "2006", "authors": "Rosenfeld MG, Lunyak VV, Glass CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "16751179", "url": "https://glygen.org/publication/PubMed/16751179" } ] }, { "title": "NR2F1 mutations cause optic atrophy with intellectual disability.", "journal": "American journal of human genetics", "date": "2014", "authors": "Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "reference": [ { "type": "PubMed", "id": "24462372", "url": "https://glygen.org/publication/PubMed/24462372" } ] }, { "title": "Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.", "journal": "Clinical genetics", "date": "2016", "authors": "Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Mougou-Zerelli S, Edery P, Saad A, Heron D, des Portes V, Sanlaville D, Lesca G", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "reference": [ { "type": "PubMed", "id": "26138355", "url": "https://glygen.org/publication/PubMed/26138355" } ] }, { "title": "COUP transcription factor is a member of the steroid receptor superfamily.", "journal": "Nature", "date": "1989", "authors": "Wang LH, Tsai SY, Cook RG, Beattie WG, Tsai MJ, O'Malley BW", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "reference": [ { "type": "PubMed", "id": "2739739", "url": "https://glygen.org/publication/PubMed/2739739" } ] }, { "title": "Identification of two novel members of erbA superfamily by molecular cloning: the gene products of the two are highly related to each other.", "journal": "Nucleic Acids Res.", "date": "1988", "authors": "Miyajima N, Kadowaki Y, Fukushige S, Shimizu S, Semba K, Yamanashi Y, Matsubara K, Toyoshima K, Yamamoto T", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "reference": [ { "type": "PubMed", "id": "2905047", "url": "https://glygen.org/publication/PubMed/2905047" } ] }, { "title": "NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.", "journal": "Human mutation", "date": "2022", "authors": "Billiet B, Amati-Bonneau P, Desquiret-Dumas V, Guehlouz K, Milea D, Gohier P, Lenaers G, Mirebeau-Prunier D, den Dunnen JT, Reynier P, Ferre M", "evidence": [ { "database": "RefSeq", "id": "NP_005645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645" } ], "reference": [ { "type": "PubMed", "id": "34837429", "url": "https://glygen.org/publication/PubMed/34837429" } ] }, { "title": "Metabolic Switch Under Glucose Deprivation Leading to Discovery of NR2F1 as a Stimulus of Osteoblast Differentiation.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2022", "authors": "Lee E, Park SY, Moon JY, Ko JY, Kim TK, Im GI", "evidence": [ { "database": "RefSeq", "id": "NP_005645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645" } ], "reference": [ { "type": "PubMed", "id": "35462433", "url": "https://glygen.org/publication/PubMed/35462433" } ] }, { "title": "NR2F1 Is a Barrier to Dissemination of Early-Stage Breast Cancer Cells.", "journal": "Cancer research", "date": "2022", "authors": "Rodriguez-Tirado C, Kale N, Carlini MJ, Shrivastava N, Rodrigues AA, Khalil BD, Bravo-Cordero JJ, Hong Y, Alexander M, Ji J, Behbod F, Sosa MS", "evidence": [ { "database": "RefSeq", "id": "NP_005645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645" } ], "reference": [ { "type": "PubMed", "id": "35471456", "url": "https://glygen.org/publication/PubMed/35471456" } ] }, { "title": "Spatial control of astrogenesis progression by cortical arealization genes.", "journal": "Cerebral cortex (New York, N.Y. : 1991)", "date": "2022-07-12", "authors": "Santo Manuela, Rigoldi Laura, Falcone Carmen, Tuccillo Mariacarmine, Calabrese Michela, Mart\u00ednez-Cerde\u00f1o Ver\u00f3nica, Mallamaci Antonello", "evidence": [ { "database": "RefSeq", "id": "NP_005645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645" } ], "reference": [ { "type": "PubMed", "id": "35818636", "url": "https://glygen.org/publication/PubMed/35818636" } ] }, { "title": "METTL3 inhibits inflammation of retinal pigment epithelium cells by regulating NR2F1 in an m(6)A-dependent manner.", "journal": "Frontiers in immunology", "date": "2022", "authors": "Meng J, Liu X, Tang S, Liu Y, Zhao C, Zhou Q, Li N, Hou S", "evidence": [ { "database": "RefSeq", "id": "NP_005645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645" } ], "reference": [ { "type": "PubMed", "id": "35936005", "url": "https://glygen.org/publication/PubMed/35936005" } ] }, { "title": "The TRAP220 component of a thyroid hormone receptor- associated protein (TRAP) coactivator complex interacts directly with nuclear receptors in a ligand-dependent fashion.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Yuan CX, Ito M, Fondell JD, Fu ZY, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "9653119", "url": "https://glygen.org/publication/PubMed/9653119" } ] } ], "pathway": [ { "id": "hsa:7025", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7025", "resource": "KEGG Pathway" }, { "id": "R-HSA-383280", "name": "Nuclear Receptor transcription pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280", "resource": "Reactome", "description": "Nuclear Receptor transcription pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "F2Z3S9-1", "protein_name": "Nuclear receptor subfamily 2, group F, member 1", "gene_name": "Nr2f1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAMVVSSWRDPQDDVAGGNPGGPNPAAQAARGGGGGEQQQAGSGAPHTPQTPGQPGAPATPGTAGDKGQGPPGSGQSQQHIECVVCGDKSSGKHYGQFTCEGCKSFFKRSVRRNLTYTCRANRNCPIDQHHRNQCQYCRLKKCLKVGMRREAVQRGRMPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSAVEWARNIPFFPDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIETLIRDMLLSGSSFNWPYMSIQCS", "length": 420 }, "evidence": [ { "id": "P10589", "url": "https://omabrowser.org/oma/group/P10589/", "database": "OMA" } ], "common_name": "Rat" }, { 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"id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "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": "P10589", "url": "https://www.uniprot.org/uniprot/P10589" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": 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