{ "uniprot_canonical_ac": "O75398-1", "uniprot_ac": "O75398", "uniprot_id": "DEAF1_HUMAN", "mass": { "chemical_mass": 59327.0, "monoisotopic_mass": 59327.0 }, "refseq": { "ac": "NP_001280563", "name": "deformed epidermal autoregulatory factor 1 homolog isoform b", "summary": "This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563" }, "gene_names": [ { "name": "DEAF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75398", "id": "O75398" }, { "name": "DEAF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563", "id": "NP_001280563" }, { "name": "MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563", "id": "NP_001280563" }, { "name": "SPN", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75398", "id": "O75398" }, { "name": "ZMYND5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75398", "id": "O75398" } ], "protein_names": [ { "name": "Deformed epidermal autoregulatory factor 1 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75398" }, { "name": "NUDR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75398" }, { "name": "Nuclear DEAF-1-related transcriptional regulator", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75398" }, { "name": "Suppressin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75398" }, { "name": "Zinc finger MYND domain-containing protein 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75398" }, { "name": "deformed epidermal autoregulatory factor 1 homolog isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563", "id": "NP_001280563" }, { "name": "suppressin; deformed epidermal autoregulatory factor 1 homolog; zinc finger MYND domain-containing protein 5; nuclear DEAF-1-related transcriptional regulator", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563", "id": "NP_001280563" } ], "function": [ { "annotation": "De novo variants of DEAF1 cause intellectual disability in six Chinese patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001280563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563" }, { "database": "PubMed", "id": "33705764", "url": "https://glygen.org/publication/PubMed/33705764" } ] }, { "annotation": "Lower peripheral tissue antigens (PTA) expression resulting from the alternative splicing of DEAF1 may contribute to the pathogenesis of type 1 diabetes.", "evidence": [ { "database": "RefSeq", "id": "NP_001280563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563" }, { "database": "PubMed", "id": "19668219", "url": "https://glygen.org/publication/PubMed/19668219" } ] }, { "annotation": "The spn gene was mutated in the primary CRC, the expression of SPN was primarily cytoplasmic in nonmucinous CRCs and nuclear in mucinous CRCs.", "evidence": [ { "database": "RefSeq", "id": "NP_001280563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563" }, { "database": "PubMed", "id": "11705868", "url": "https://glygen.org/publication/PubMed/11705868" } ] }, { "annotation": "This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001280563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563" } ] }, { "annotation": "Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning. Regulates epithelial cell proliferation and side-branching in the mammary gland. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. Isoform 1 displays greater transcriptional activity than isoform 4. Isoform 4 may inhibit transcriptional activity of isoform 1 by interacting with isoform 1 and retaining it in the cytoplasm. Transcriptional activator of EIF4G3.", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398#function" }, { "database": "PubMed", "id": "10521432", "url": "https://glygen.org/publication/PubMed/10521432" }, { "database": "PubMed", "id": "24726472", "url": "https://glygen.org/publication/PubMed/24726472" }, { "database": "PubMed", "id": "11705868", "url": "https://glygen.org/publication/PubMed/11705868" }, { "database": "PubMed", "id": "11427895", "url": "https://glygen.org/publication/PubMed/11427895" }, { "database": "PubMed", "id": "19668219", "url": "https://glygen.org/publication/PubMed/19668219" }, { "database": "PubMed", "id": "18826651", "url": "https://glygen.org/publication/PubMed/18826651" } ] }, { "annotation": "Transcriptional Regulation of the Human 5-HT1A Receptor Gene by Lithium: Role of Deaf1 and GSK3beta. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001280563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563" }, { "database": "PubMed", "id": "37958600", "url": "https://glygen.org/publication/PubMed/37958600" } ] } ], "disease": [ { "disease_id": "DOID:0070054", "recommended_name": { "id": "DOID:0070054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070054", "name": "Vulto-van Silfout-de Vries syndrome", "description": "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5." }, "synonyms": [ { "id": "DOID:0070054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070054", "name": "autosomal dominant non-syndromic intellectual disability 24", "description": "" }, { "id": "DOID:0070054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070054", "name": "MRD24", "description": "" }, { "id": "DOID:0070054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070054", "name": "autosomal dominant mental retardation 24", "description": "" }, { "id": "DOID:0070054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070054", "name": "IDDISBAS", "description": "" }, { "id": "DOID:0070054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070054", "name": "VSVS", "description": "" }, { "id": "DOID:0070054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070054", "name": "intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures", "description": "" }, { "id": "MONDO:0014357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014357", "name": "intellectual disability, autosomal dominant 24", "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene." }, { "id": "MONDO:0014357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014357", "name": "DEAF1 autosomal dominant non-syndromic intellectual disability", "description": "" }, { "id": "MONDO:0014357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014357", "name": "MRD24", "description": "" }, { "id": "MONDO:0014357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014357", "name": "Vulto-van Silfout-de Vries syndrome", "description": "" }, { "id": "MONDO:0014357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014357", "name": "autosomal dominant intellectual disability 24", "description": "" }, { "id": "MONDO:0014357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014357", "name": "autosomal dominant mental retardation 24", "description": "" }, { "id": "MONDO:0014357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014357", "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1", "description": "" }, { "id": "MONDO:0014357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014357", "name": "intellectual disability, autosomal dominant 24", "description": "" }, { "id": "MONDO:0014357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014357", "name": "intellectual disability, autosomal dominant type 24", "description": "" }, { "id": "MONDO:0014357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014357", "name": "mental retardation, autosomal dominant type 24", "description": "" }, { "id": "MONDO:0014357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014357", "name": "autosomal dominant non-syndromic intellectual disability 24", "description": "" }, { "id": "MONDO:0014357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014357", "name": "mental retardation, autosomal dominant 24", "description": "" }, { "id": "MIM:615828", "resource": "MIM", "url": "https://www.omim.org/entry/615828", "name": "Vulto-van Silfout-de Vries syndrome", "description": "Vulto-van Silfout-de Vries syndrome" } ], "evidence": [ { "id": "615828", "database": "MIM", "url": "https://www.omim.org/entry/615828" } ] }, { "disease_id": "MONDO:0014952", "recommended_name": { "id": "MONDO:0014952", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014952", "name": "intellectual disability-epilepsy-extrapyramidal syndrome", "description": "" }, "synonyms": [ { "id": "MONDO:0014952", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014952", "name": "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures", "description": "" }, { "id": "MONDO:0014952", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014952", "name": "DYSEIDD", "description": "" }, { "id": "MONDO:0014952", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014952", "name": "dyskinesia, seizures, and intellectual developmental disorder", "description": "" }, { "id": "MIM:617171", "resource": "MIM", "url": "https://www.omim.org/entry/617171", "name": "Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures", "description": "Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" } ], "evidence": [ { "id": "617171", "database": "MIM", "url": "https://www.omim.org/entry/617171" } ] } ], "snv": [ { "evidence": [ { "id": "O75398", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75398" } ], "glycoeffect": [], "start_pos": 184, "end_pos": 184, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "688025", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G184", "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:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 215, "end_pos": 215, "sequence_org": "Y", "sequence_mut": "Q", "comment": "Reduces transcription activation.", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "PubMed", "id": "11427895", "url": "https://glygen.org/publication/PubMed/11427895" } ] }, { "start_pos": 226, "end_pos": 226, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces transcription activation.", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "PubMed", "id": "11427895", "url": "https://glygen.org/publication/PubMed/11427895" } ] }, { "start_pos": 246, "end_pos": 246, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces transcription activation.", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "PubMed", "id": "11427895", "url": "https://glygen.org/publication/PubMed/11427895" } ] }, { "start_pos": 250, "end_pos": 250, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes DNA-binding. Loss of DEAF1-promoter repression; when associated with A-253. Loss of transcriptional activation of EIF4G3; when associated with A-253. Loss of interaction with XRCC6; when associated with A-253. Loss of DNA binding; when associated with A-253.", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "PubMed", "id": "24726472", "url": "https://glygen.org/publication/PubMed/24726472" }, { "database": "PubMed", "id": "11427895", "url": "https://glygen.org/publication/PubMed/11427895" } ] }, { "start_pos": 252, "end_pos": 252, "sequence_org": "W", "sequence_mut": "Q", "comment": "Abolishes DNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "PubMed", "id": "11427895", "url": "https://glygen.org/publication/PubMed/11427895" } ] }, { "start_pos": 253, "end_pos": 253, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes DNA-binding. oss of DEAF1-promoter repression; when associated with A-250. Loss of transcriptional activation of EIF4G3; when associated with A-250. Loss of interaction with XRCC6; when associated with A-250. Loss of DNA binding; when associated with A-250.", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "PubMed", "id": "24726472", "url": "https://glygen.org/publication/PubMed/24726472" }, { "database": "PubMed", "id": "11427895", "url": "https://glygen.org/publication/PubMed/11427895" } ] }, { "start_pos": 302, "end_pos": 302, "sequence_org": "R", "sequence_mut": "T", "comment": "Abolishes nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "PubMed", "id": "9773984", "url": "https://glygen.org/publication/PubMed/9773984" } ] }, { "start_pos": 304, "end_pos": 304, "sequence_org": "K", "sequence_mut": "T", "comment": "Abolishes nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "PubMed", "id": "9773984", "url": "https://glygen.org/publication/PubMed/9773984" } ] }, { "start_pos": 538, "end_pos": 538, "sequence_org": "H", "sequence_mut": "S", "comment": "No effect on folding of MYND-type zinc finger.", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "PubMed", "id": "23372760", "url": "https://glygen.org/publication/PubMed/23372760" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "78.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000177030", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000177030" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "74.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000177030", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000177030" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000177030", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000177030" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000177030", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000177030" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000177030", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000177030" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000177030", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000177030" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000177030", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000177030" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000177030", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000177030" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75398", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75398" } ], "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/O75398" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75398", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75398" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"https://www.uniprot.org/uniprot/O75398", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75398-1", "url": "https://www.uniprot.org/uniprot/O75398-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75398-3", "url": "https://www.uniprot.org/uniprot/O75398-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75398-4", "url": "https://www.uniprot.org/uniprot/O75398-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75398-5", "url": "https://www.uniprot.org/uniprot/O75398-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV", "length": 565, "header": "sp|O75398-1|DEAF1_HUMAN Isoform 1 of Deformed epidermal autoregulatory factor 1 homolog OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "isoforms": [ { "isoform_ac": "A0A0J9YWD6-1", "url": "", "sequence": { "sequence": "XLTSLPALAVPPPTPTKTAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEVIHPPRLPKVLGLQQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV", "length": 161, "header": "tr|A0A0J9YWD6-1|A0A0J9YWD6_HUMAN Computationally mapped isoform of Deformed epidermal autoregulatory factor 1 homolog OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "HSCHR11_1_CTG8", "start_pos": 206708, "end_pos": 176432, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634194.1", "url": "https://www.ensembl.org/id/ENST00000634194.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487909.1", "url": "https://www.ensembl.org/id/ENSP00000487909.1" } ] } }, { "isoform_ac": "A0A0J9YX80-1", "url": "", "sequence": { "sequence": "XLTSLPALAVPPPTPTKTAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV", "length": 147, "header": "tr|A0A0J9YX80-1|A0A0J9YX80_HUMAN Computationally mapped isoform of Deformed epidermal autoregulatory factor 1 homolog OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "HSCHR11_1_CTG8", "start_pos": 206708, "end_pos": 176432, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632113.1", "url": "https://www.ensembl.org/id/ENST00000632113.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488285.1", "url": "https://www.ensembl.org/id/ENSP00000488285.1" } ] } }, { "isoform_ac": "A0A0J9YXA4-1", "url": "", "sequence": { "sequence": "XLTSLPALAVPPPTPTKTAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKRWSLTMLTSLVSISWLRAILPCQPPKVLGL", "length": 143, "header": "tr|A0A0J9YXA4-1|A0A0J9YXA4_HUMAN Computationally mapped isoform of Deformed epidermal autoregulatory factor 1 homolog OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "HSCHR11_1_CTG8", "start_pos": 206708, "end_pos": 183074, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634067.1", "url": "https://www.ensembl.org/id/ENST00000634067.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488313.1", "url": "https://www.ensembl.org/id/ENSP00000488313.1" } ] } }, { "isoform_ac": "A0A804HIS1-1", "url": "", "sequence": { "sequence": "MAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV", "length": 323, "header": "tr|A0A804HIS1-1|A0A804HIS1_HUMAN Computationally mapped isoform of DEAF1 transcription factor OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "11", "start_pos": 686935, "end_pos": 644553, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683307.1", "url": "https://www.ensembl.org/id/ENST00000683307.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507198.1", "url": "https://www.ensembl.org/id/ENSP00000507198.1" } ] } }, { "isoform_ac": "A0A8I5KQJ8-1", "url": "", "sequence": { "sequence": "MAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPDFK", "length": 107, "header": "tr|A0A8I5KQJ8-1|A0A8I5KQJ8_HUMAN Computationally mapped isoform of DEAF1 transcription factor OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "11", "start_pos": 694843, "end_pos": 688201, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530813.2", "url": "https://www.ensembl.org/id/ENST00000530813.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000508507.1", "url": "https://www.ensembl.org/id/ENSP00000508507.1" } ] } }, { "isoform_ac": "A0A8I5KQY1-1", "url": "", "sequence": { "sequence": "MAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKTISLCRQAGVQWHDLSPLQPQRPGFKPQGVAQTCRPEKEASRTPGGLVRRPHPLTGGSSHEGCRPLTPHRVSAGTGTLPGCPRVEAREGRAVGLHPMLQFADDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV", "length": 599, "header": "tr|A0A8I5KQY1-1|A0A8I5KQY1_HUMAN Computationally mapped isoform of DEAF1 transcription factor OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "11", "start_pos": 694843, "end_pos": 644553, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685854.1", "url": "https://www.ensembl.org/id/ENST00000685854.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508801.1", "url": "https://www.ensembl.org/id/ENSP00000508801.1" } ] } }, { "isoform_ac": "A0A8I5KR93-1", "url": "", "sequence": { "sequence": "MAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSKRPACSPHAGPATLSLTTPAIRTAARSHRFQKLRCQRHIPK", "length": 264, "header": "tr|A0A8I5KR93-1|A0A8I5KR93_HUMAN Computationally mapped isoform of DEAF1 transcription factor OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "11", "start_pos": 694843, "end_pos": 678697, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692634.1", "url": "https://www.ensembl.org/id/ENST00000692634.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508859.1", "url": "https://www.ensembl.org/id/ENSP00000508859.1" } ] } }, { "isoform_ac": "A0A8I5KUA2-1", "url": "", "sequence": { "sequence": "MAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKTISLCRQAGVQWHDLSPLQPQRPGFK", "length": 489, "header": "tr|A0A8I5KUA2-1|A0A8I5KUA2_HUMAN Computationally mapped isoform of DEAF1 transcription factor OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "11", "start_pos": 694843, "end_pos": 649942, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686001.1", "url": "https://www.ensembl.org/id/ENST00000686001.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508459.1", "url": "https://www.ensembl.org/id/ENSP00000508459.1" } ] } }, { "isoform_ac": "A0A8I5KZ80-1", "url": "", "sequence": { "sequence": "MAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKNEHIPFF", "length": 470, "header": "tr|A0A8I5KZ80-1|A0A8I5KZ80_HUMAN Computationally mapped isoform of DEAF1 transcription factor OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "11", "start_pos": 694843, "end_pos": 648582, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689835.1", "url": "https://www.ensembl.org/id/ENST00000689835.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510621.1", "url": "https://www.ensembl.org/id/ENSP00000510621.1" } ] } }, { "isoform_ac": "A0A8I5QJC6-1", "url": "", "sequence": { "sequence": "MAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV", "length": 454, "header": "tr|A0A8I5QJC6-1|A0A8I5QJC6_HUMAN Computationally mapped isoform of DEAF1 transcription factor OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "11", "start_pos": 694843, "end_pos": 644553, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690068.1", "url": "https://www.ensembl.org/id/ENST00000690068.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509089.1", "url": "https://www.ensembl.org/id/ENSP00000509089.1" } ] } }, { "isoform_ac": "A0A8I5QL28-1", "url": "", "sequence": { "sequence": "MAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKERRPGLWN", "length": 440, "header": "tr|A0A8I5QL28-1|A0A8I5QL28_HUMAN Computationally mapped isoform of DEAF1 transcription factor OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "11", "start_pos": 694843, "end_pos": 659776, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687329.1", "url": "https://www.ensembl.org/id/ENST00000687329.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510598.1", "url": "https://www.ensembl.org/id/ENSP00000510598.1" } ] } }, { "isoform_ac": "H0YCH1-1", "url": "", "sequence": { "sequence": "XLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKRWSLTMLTSLVSISWLRAILPCQPPKVLGL", "length": 349, "header": "tr|H0YCH1-1|H0YCH1_HUMAN Computationally mapped isoform of DEAF1 transcription factor OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "11", "start_pos": 687936, "end_pos": 651316, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527170.5", "url": "https://www.ensembl.org/id/ENST00000527170.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431563.1", "url": "https://www.ensembl.org/id/ENSP00000431563.1" } ] } }, { "isoform_ac": "H0YCY2-1", "url": "", "sequence": { "sequence": "MAAEPGHMDMGAEALPGPDEAAAAAAFAGKCARRPLASSGSRAPTPRACPAQLSQR", "length": 56, "header": "tr|H0YCY2-1|H0YCY2_HUMAN Computationally mapped isoform of DEAF1 transcription factor OS=Homo sapiens OX=9606 GN=DEAF1 PE=4 SV=2 CANONICAL=O75398-1" }, "locus": { "chromosome": "11", "start_pos": 694843, "end_pos": 691596, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529717.6", "url": "https://www.ensembl.org/id/ENST00000529717.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000432518.2", "url": "https://www.ensembl.org/id/ENSP00000432518.2" } ] } }, { "isoform_ac": "O75398-1", "url": "", "sequence": { "sequence": "MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV", "length": 565, "header": "sp|O75398-1|DEAF1_HUMAN Isoform 1 of Deformed epidermal autoregulatory factor 1 homolog OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": { "chromosome": "11", "start_pos": 695047, "end_pos": 644553, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000382409.4", "url": "https://www.ensembl.org/id/ENST00000382409.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000371846.3", "url": "https://www.ensembl.org/id/ENSP00000371846.3" } ] } }, { "isoform_ac": "O75398-3", "url": "", "sequence": { "sequence": "MEDSDSAAKQLGLADAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV", "length": 551, "header": "sp|O75398-3|DEAF1_HUMAN Isoform 3 of Deformed epidermal autoregulatory factor 1 homolog OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": {} }, { "isoform_ac": "O75398-4", "url": "", "sequence": { "sequence": "MAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV", "length": 497, "header": "sp|O75398-4|DEAF1_HUMAN Isoform 4 of Deformed epidermal autoregulatory factor 1 homolog OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": {} }, { "isoform_ac": "O75398-5", "url": "", "sequence": { "sequence": "MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGWDLKPSRCLLHLCCLLRRHDLITVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEVIHPPRLPKVLGLQQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV", "length": 490, "header": "sp|O75398-5|DEAF1_HUMAN Isoform 5 of Deformed epidermal autoregulatory factor 1 homolog OS=Homo sapiens OX=9606 GN=DEAF1 PE=1 SV=1 CANONICAL=O75398-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75398", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75398" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 171, "end_pos": 171, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "site_lbl": "Thr171" }, { "start_pos": 176, "end_pos": 176, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75398", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75398" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "phospho.ELM", "id": "O75398", "url": "http://phospho.elm.eu.org/byAccession/O75398.html" } ], "site_lbl": "Ser176" }, { "start_pos": 179, "end_pos": 179, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "iPTMnet", "id": "O75398", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75398" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Thr179" }, { "start_pos": 432, "end_pos": 432, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75398", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75398" } ], "site_lbl": "Thr432" }, { "start_pos": 448, "end_pos": 448, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "site_lbl": "Ser448" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Nuclear DEAF-1-related (NUDR) protein contains a novel DNA binding domain and represses transcription of the heterogeneous nuclear ribonucleoprotein A2/B1 promoter.", "journal": "The Journal of biological chemistry", "date": "1999-10-22", "authors": "Michelson R J, Collard M W, Ziemba A J, Persinger J, Bartholomew B, Huggenvik J I", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "reference": [ { "type": "PubMed", "id": "10521432", "url": "https://glygen.org/publication/PubMed/10521432" } ] }, { "title": "The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation.", "journal": "Nature structural biology", "date": "2001", "authors": "Bottomley MJ, Collard MW, Huggenvik JI, Liu Z, Gibson TJ, Sattler M", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "reference": [ { "type": "PubMed", "id": "11427895", "url": "https://glygen.org/publication/PubMed/11427895" } ] }, { "title": "Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2001", "authors": "Manne U, Gary BD, Oelschlager DK, Weiss HL, Frost AR, Grizzle WE", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "RefSeq", "id": "NP_001280563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563" } ], "reference": [ { "type": "PubMed", "id": "11705868", "url": "https://glygen.org/publication/PubMed/11705868" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O75398-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75398-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Structure and functional analysis of the MYND domain.", "journal": "J. Mol. Biol.", "date": "2006", "authors": "Spadaccini Roberta, Perrin H\u00e9l\u00e8ne, Bottomley Matthew J, Ansieau St\u00e9phane, Sattler Michael", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "reference": [ { "type": "PubMed", "id": "16527309", "url": "https://glygen.org/publication/PubMed/16527309" } ] }, { "title": "Retraction notice to 'Structure and functional analysis of the MYND domain' [J. Mol. Biol. (2006) 358, 498-508].", "journal": "J. Mol. Biol.", "date": "2008", "authors": "Spadaccini Roberta, Perrin H\u00e9l\u00e8ne, Bottomley Matthew J, Ansieau St\u00e9phane, Sattler Michael", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "reference": [ { "type": "PubMed", "id": "18286714", "url": "https://glygen.org/publication/PubMed/18286714" } ] }, { "title": "Deaf-1 regulates epithelial cell proliferation and side-branching in the mammary gland.", "journal": "BMC developmental biology", "date": "2008-10-01", "authors": "Barker Holly E, Smyth Gordon K, Wettenhall James, Ward Teresa A, Bath Mary L, Lindeman Geoffrey J, Visvader Jane E", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "reference": [ { "type": "PubMed", "id": "18826651", "url": "https://glygen.org/publication/PubMed/18826651" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O75398-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75398-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Deaf1 isoforms control the expression of genes encoding peripheral tissue antigens in the pancreatic lymph nodes during type 1 diabetes.", "journal": "Nature immunology", "date": "2009", "authors": "Yip L, Su L, Sheng D, Chang P, Atkinson M, Czesak M, Albert PR, Collier AR, Turley SJ, Fathman CG, Creusot RJ", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "RefSeq", "id": "NP_001280563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563" } ], "reference": [ { "type": "PubMed", "id": "19668219", "url": "https://glygen.org/publication/PubMed/19668219" } ] }, { "title": "A de novo paradigm for mental retardation.", "journal": "Nature genetics", "date": "2010", "authors": "Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "reference": [ { "type": "PubMed", "id": "21076407", "url": "https://glygen.org/publication/PubMed/21076407" } ] }, { "title": "Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.", "journal": "PloS one", "date": "2012", "authors": "Jensik PJ, Huggenvik JI, Collard MW", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "reference": [ { "type": "PubMed", "id": "22442688", "url": "https://glygen.org/publication/PubMed/22442688" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" }, { "database": "iPTMnet", "id": "O75398", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75398" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Structural and functional analysis of the DEAF-1 and BS69 MYND domains.", "journal": "PloS one", "date": "2013", "authors": "Kateb F, Perrin H, Tripsianes K, Zou P, Spadaccini R, Bottomley M, Franzmann TM, Buchner J, Ansieau S, Sattler M", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "reference": [ { "type": "PubMed", "id": "23372760", "url": "https://glygen.org/publication/PubMed/23372760" } ] }, { "title": "Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.", "journal": "Am. J. Med. Genet. A", "date": "2014", "authors": "Faqeih Eissa A, Al-Owain Mohammed, Colak Dilek, Kenana Rosan, Al-Yafee Yusra, Al-Dosary Mazhor, Al-Saman Abdulaziz, Albalawi Fadwa, Al-Sarar Dalia, Domiaty Dalia, Daghestani Maha, Kaya Namik", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "reference": [ { "type": "PubMed", "id": "24668509", "url": "https://glygen.org/publication/PubMed/24668509" } ] }, { "title": "Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.", "journal": "American journal of human genetics", "date": "2014", "authors": "Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "reference": [ { "type": "PubMed", "id": "24726472", "url": "https://glygen.org/publication/PubMed/24726472" } ] }, { "title": "Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.", "journal": "J. Med. Genet.", "date": "2015", "authors": "Rajab Anna, Schuelke Markus, Gill Esther, Zwirner Angelika, Seifert Franziska, Morales Gonzalez Susanne, Knierim Ellen", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "reference": [ { "type": "PubMed", "id": "26048982", "url": "https://glygen.org/publication/PubMed/26048982" } ] }, { "title": "De novo variants of DEAF1 cause intellectual disability in six Chinese patients.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "2021", "authors": "Chen S, Deng X, Xiong J, He F, Yang L, Chen B, Chen C, Zhang C, Yang L, Peng J, Yin F", "evidence": [ { "database": "RefSeq", "id": "NP_001280563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563" } ], "reference": [ { "type": "PubMed", "id": "33705764", "url": "https://glygen.org/publication/PubMed/33705764" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75398", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75398" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Transcriptional Regulation of the Human 5-HT1A Receptor Gene by Lithium: Role of Deaf1 and GSK3\u03b2.", "journal": "International journal of molecular sciences", "date": "2023-10-26", "authors": "Harkin Emerson F, Nasrallah Georges, Le Fran\u00e7ois Brice, Albert Paul R", "evidence": [ { "database": "RefSeq", "id": "NP_001280563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280563" } ], "reference": [ { "type": "PubMed", "id": "37958600", "url": "https://glygen.org/publication/PubMed/37958600" } ] }, { "title": "Characterization of a nuclear deformed epidermal autoregulatory factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1998", "authors": "Huggenvik JI, Michelson RJ, Collard MW, Ziemba AJ, Gurley P, Mowen KA", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "reference": [ { "type": "PubMed", "id": "9773984", "url": "https://glygen.org/publication/PubMed/9773984" } ] } ], "pathway": [ { "id": "hsa:10522", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10522", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O88450-1", "protein_name": "Deformed epidermal autoregulatory factor 1 homolog", "gene_name": "Deaf1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAESEAEEPVLSRDEDSEEDADSEAERETRRVTAVAVMAAESGHMDMGTEALPSPDEAAAAAAFAEVTTVTVANVGSSADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKSRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEAGVQPPCRVGHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPSTPTKAVSPTVVSGLEMSEHRSWLYLEEMVNSLLNTAQQLKTLFEQAKQASSCREAAVTQARMQVDAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHVCGQSASVTVQADDVHVEESVIEKVAV", "length": 565 }, "evidence": [ { "id": "45931641", "url": "http://www.informatics.jax.org/homology/45931641", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q24180-1", "protein_name": "Deformed epidermal autoregulatory factor 1", "gene_name": "Deaf1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MEQVDSSTELHLNRKDLAALAEDVVKEEVILESSSHHHHHHHHQLDTKVRMVTSSSNDNSGSGGASGGTSGAGGGNGGGGVVSVPVSLPIGSMITGTTFNVITPDQLPPHFKPMLCVDNNGYLSGSTVSMGNDLKTIVIQQQQTQPGGGGGGANNAGTNTTATNTIGLNHDGSGSNNSHDSLATLEHAAGGASGVGGGGGGTGGGSSGWSENPSTQHNEVFQIRCKTTCAELYRSKLGSGGRGRCVKYKDKWHTPSEFEHVCGRGSSKDWKRSIKYGGKSLQSLIDEGTLTPHATNCSCTVCCDDEAGESASGPVRLFTPYKRRKRNQTDLDMESGPKRKRNTHHSNNNNSNTNNNNTSGSGANNCVDVTAAVAAATASVVDENNMFLSEENITSKDEPWAALNDSLDTSTELVDQSQMGNTYERETFVVNINDGSSIAVLDTSQSMKNIEHVYCTMVKATNDFKRMLNDMKQSFERRIEVLQKERDAAVSAMRVQVHADIDDPNISGSLHGNEIISAKKCANCNREALAECSLCRKTPYCSEFCQRKDWNAHQVECTRNPQTTTQQVMLLIDDQS", "length": 576 }, "evidence": [ { "id": "O75398", "url": "https://omabrowser.org/oma/group/O75398/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q9Z1T5-1", "protein_name": "Deformed epidermal autoregulatory factor 1 homolog", "gene_name": "Deaf1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAESEAEEPVLSRDEDSEEDADSEAERETRRVTAVAVMAAESGHMDMGTEALPSPDEAAAAAAAFAEVTTVTVANVGSSADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKSRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEAGVQPPCRVGHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPSTPTKAVSPTVVSGLEMSEHRSWLYLEEMVNSLLNTAQQLKTLFEQAKQASSCREAAVTQARMQVDTERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHVCGQSASVTVQADDVHVEESVIEKVAV", "length": 566 }, "evidence": [ { "id": "45931641", "url": "http://www.informatics.jax.org/homology/45931641", "database": "MGI" }, { "id": "O75398", "url": "https://omabrowser.org/oma/group/O75398/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "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": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "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": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "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": "O75398", "url": "https://www.uniprot.org/uniprot/O75398" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": 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