{ "uniprot_canonical_ac": "P58462-1", "uniprot_ac": "P58462", "uniprot_id": "FOXP1_MOUSE", "mass": { "chemical_mass": 78833.0, "monoisotopic_mass": 78833.0 }, "refseq": { "ac": "XP_006505377", "name": "forkhead box protein P1 isoform X2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006505377" }, "gene_names": [ { "name": "Foxp1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P58462", "id": "P58462" }, { "name": "3110052D19Rik; 4932443N09Rik", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006505377", "id": "XP_006505377" }, { "name": "Foxp1a", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P58462", "id": "P58462" }, { "name": "Foxp1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006505377", "id": "XP_006505377" } ], "protein_names": [ { "name": "Forkhead box protein P1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P58462" }, { "name": "Forkhead-related transcription factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P58462" }, { "name": "forkhead box protein P1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184250", "id": "NP_001184250" }, { "name": "forkhead box protein P1 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184251", "id": "NP_001184251" }, { "name": "forkhead box protein P1 isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334274", "id": "NP_001334274" }, { "name": "forkhead box protein P1 isoform X2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006505377", "id": "XP_006505377" }, { "name": "forkhead box protein P1 isoform X3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006505378", "id": "XP_006505378" }, { "name": "forkhead box protein P1 isoform X5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006505382", "id": "XP_006505382" }, { "name": "forkhead box protein P1; forkhead-related transcription factor 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184251", "id": "NP_001184251" } ], "function": [ { "annotation": "Cortex-restricted deletion of Foxp1 impairs barrel formation and induces aberrant tactile responses in a mouse model of autism. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001334274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334274" }, { "database": "PubMed", "id": "37691105", "url": "https://glygen.org/publication/PubMed/37691105" }, { "database": "RefSeq", "id": "NP_001184250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184250" }, { "database": "RefSeq", "id": "NP_001184251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184251" } ] }, { "annotation": "Deacetylation of FOXP1 by HDAC7 potentiates self-renewal of mesenchymal stem cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001334274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334274" }, { "database": "PubMed", "id": "37507770", "url": "https://glygen.org/publication/PubMed/37507770" }, { "database": "RefSeq", "id": "NP_001184250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184250" }, { "database": "RefSeq", "id": "NP_001184251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184251" } ] }, { "annotation": "Foxp1 mRNA is most highly expressed in developing and mature basal ganglia and is also observed in the cerebral cortex (layers 3-5), hippocampus (CA1), and thalamus.", "evidence": [ { "database": "RefSeq", "id": "NP_001334274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334274" }, { "database": "PubMed", "id": "12687690", "url": "https://glygen.org/publication/PubMed/12687690" }, { "database": "RefSeq", "id": "NP_001184250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184250" }, { "database": "RefSeq", "id": "NP_001184251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184251" } ] }, { "annotation": "Involved in transcriptional regulation in embryonic stem cells (ESCs). Stimulates expression of transcription factors that are required for pluripotency and decreases expression of differentiation-associated genes. Has distinct DNA-binding specifities as compared to the canonical form and preferentially binds DNA with the sequence 5'-CGATACAA-3' (or closely related sequences) (By similarity). Promotes ESC self-renewal and pluripotency (PubMed:21924763).", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462#function" }, { "database": "PubMed", "id": "21924763", "url": "https://glygen.org/publication/PubMed/21924763" }, { "database": "UniProtKB", "id": "Q9H334", "url": "https://www.uniprot.org/uniprot/Q9H334#function" } ] }, { "annotation": "Potential roles for lncRNA Mirg/Foxp1 in an ARHL model created using C57BL/6J mice.", "evidence": [ { "database": "RefSeq", "id": "NP_001334274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334274" }, { "database": "PubMed", "id": "37579646", "url": "https://glygen.org/publication/PubMed/37579646" }, { "database": "RefSeq", "id": "NP_001184250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184250" }, { "database": "RefSeq", "id": "NP_001184251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184251" } ] }, { "annotation": "The transcription factor Foxp1 regulates aerobic glycolysis in adipocytes and myocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_001334274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334274" }, { "database": "PubMed", "id": "37150320", "url": "https://glygen.org/publication/PubMed/37150320" }, { "database": "RefSeq", "id": "NP_001184250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184250" }, { "database": "RefSeq", "id": "NP_001184251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184251" } ] }, { "annotation": "Transcriptional repressor. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential (PubMed:11358962, PubMed:14701752). Plays an important role in the specification and differentiation of lung epithelium. Acts cooperatively with FOXP4 to regulate lung secretory epithelial cell fate and regeneration by restricting the goblet cell lineage program; the function may involve regulation of AGR2 (PubMed:11358962, PubMed:22675208). Essential transcriptional regulator of B-cell development (PubMed:16819554). Involved in regulation of cardiac muscle cell proliferation (PubMed:20713518). Involved in the columnar organization of spinal motor neurons. Promotes the formation of the lateral motor neuron column (LMC) and the preganglionic motor column (PGC) and is required for respective appropriate motor axon projections. The segment-appropriate generation of spinal cord motor columns requires cooperation with other Hox proteins (PubMed:18667151, PubMed:18662545). Can regulate PITX3 promoter activity; may promote midbrain identity in embryonic stem cell-derived dopamine neurons by regulating PITX3 (PubMed:20175877). Negatively regulates the differentiation of T follicular helper cells T(FH)s (PubMed:24859450). Involved in maintenance of hair follicle stem cell quiescence; the function probably involves regulation of FGF18 (PubMed:23946441). Represses transcription of various pro-apoptotic genes and cooperates with NF-kappa B-signaling in promoting B-cell expansion by inhibition of caspase-dependent apoptosis. Binds to CSF1R promoter elements and is involved in regulation of monocyte differentiation and macrophage functions; repression of CSF1R in monocytes seems to involve NCOR2 as corepressor. Involved in endothelial cell proliferation, tube formation and migration indicative for a role in angiogenesis; the role in neovascularization seems to implicate suppression of SEMA5B. Can negatively regulate androgen receptor signaling (By similarity). Acts as a transcriptional activator of the FBXL7 promoter; this activity is regulated by AURKA (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462#function" }, { "database": "PubMed", "id": "23946441", "url": "https://glygen.org/publication/PubMed/23946441" }, { "database": "PubMed", "id": "20175877", "url": "https://glygen.org/publication/PubMed/20175877" }, { "database": "PubMed", "id": "18667151", "url": "https://glygen.org/publication/PubMed/18667151" }, { "database": "PubMed", "id": "22675208", "url": "https://glygen.org/publication/PubMed/22675208" }, { "database": "PubMed", "id": "24859450", "url": "https://glygen.org/publication/PubMed/24859450" }, { "database": "UniProtKB", "id": "Q9H334", "url": "https://www.uniprot.org/uniprot/Q9H334#function" }, { "database": "PubMed", "id": "16819554", "url": "https://glygen.org/publication/PubMed/16819554" }, { "database": "PubMed", "id": "18662545", "url": "https://glygen.org/publication/PubMed/18662545" }, { "database": "PubMed", "id": "20713518", "url": "https://glygen.org/publication/PubMed/20713518" }, { "database": "PubMed", "id": "14701752", "url": "https://glygen.org/publication/PubMed/14701752" } ] } ], "disease": [ { "disease_id": "DOID:0060038", "recommended_name": { "id": "DOID:0060038", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060038", "name": "specific developmental disorder", "description": "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." }, "synonyms": [], "evidence": [ { "id": "0060038", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060038" } ] }, { "disease_id": "DOID:0090131", "recommended_name": { "id": "DOID:0090131", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090131", "name": "complex cortical dysplasia with other brain malformations", "description": "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations." }, "synonyms": [ { "id": "DOID:0090131", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090131", "name": "CDCBM", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "complex cortical dysplasia with other brain malformations 1", "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene." }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "CDCBM1", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "TUBB3 complex cortical dysplasia with other brain malformations", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "complex cortical dysplasia with other brain malformations type 1", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "cortical dysplasia, Complex, with Other brain malformations type 1", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "cortical dysplasia, complex, with other brain malformations 1", "description": "" }, { "id": "MIM:614039", "resource": "MIM", "url": "https://www.omim.org/entry/614039", "name": "Cortical dysplasia, complex, with other brain malformations 1", "description": "Cortical dysplasia, complex, with other brain malformations 1" } ], "evidence": [ { "id": "0090131", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0090131" } ] }, { "disease_id": "DOID:0111331", "recommended_name": { "id": "DOID:0111331", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111331", "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome", "description": "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13." }, "synonyms": [ { "id": "DOID:0111331", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111331", "name": "FOXP1 syndrome", "description": "" }, { "id": "DOID:0111331", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111331", "name": "Mental retardation with language impairment and with or without autistic features", "description": "" }, { "id": "MONDO:0013352", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013352", "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome", "description": "Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene." }, { "id": "MONDO:0013352", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013352", "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome", "description": "" }, { "id": "MONDO:0013352", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013352", "name": "FOXP1 related global developmental delay, intellectual disability and speech defects", "description": "" }, { "id": "MONDO:0013352", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013352", "name": "intellectual disability with language impairment and with or without autistic features", "description": "" }, { "id": "MONDO:0013352", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013352", "name": "mental retardation with language impairment and with or without autistic features", "description": "" }, { "id": "MIM:613670", "resource": "MIM", "url": "https://www.omim.org/entry/613670", "name": "Intellectual developmental disorder with language impairment and with or without autistic features", "description": "Intellectual developmental disorder with language impairment and with or without autistic features" } ], "evidence": [ { "id": "0111331", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111331" } ] }, { "disease_id": "DOID:1255", "recommended_name": { "id": "DOID:1255", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1255", "name": "trichostrongyloidiasis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." }, "synonyms": [], "evidence": [ { "id": "1255", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1255" } ] }, { "disease_id": "DOID:12858", "recommended_name": { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities." }, "synonyms": [ { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "HD", "description": "" }, { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington disease", "description": "" }, { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington's chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington disease", "description": "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "HD", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington disease", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's disease", "description": "" }, { "id": "MIM:143100", "resource": "MIM", "url": "https://www.omim.org/entry/143100", "name": "Huntington disease", "description": "Huntington disease" } ], "evidence": [ { "id": "12858", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ] }, { "disease_id": "DOID:1682", "recommended_name": { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "congenital heart disease", "description": "" }, "synonyms": [ { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "Congenital Heart Defects", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "Congenital anomaly of heart", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "Heart Malformation", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "congenital heart defect", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "heart defect", "description": "" } ], "evidence": [ { "id": "1682", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ] }, { "disease_id": "DOID:3908", "recommended_name": { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." }, "synonyms": [ { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "NSCLC", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "Non-small cell lung cancer", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "non-small cell lung carcinoma", "description": "" } ], "evidence": [ { "id": "3908", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ] }, { "disease_id": "DOID:3910", "recommended_name": { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3910", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ] }, { "disease_id": "DOID:4914", "recommended_name": { "id": "DOID:4914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:4914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4914", "name": "Oesophageal adenocarcinoma", "description": "" } ], "evidence": [ { "id": "4914", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ] }, { "disease_id": "DOID:5419", "recommended_name": { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness." }, "synonyms": [ { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia 12", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia (disease)", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "SCZD", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizoaffective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia with or without an affective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia, susceptibility to", "description": "" }, { "id": "MIM:181500", "resource": "MIM", "url": "https://www.omim.org/entry/181500", "name": "Schizophrenia", "description": "Schizophrenia" } ], "evidence": [ { "id": "5419", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ] }, { "disease_id": "DOID:6000", "recommended_name": { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." }, "synonyms": [ { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "CHF", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Cardiac Failure Congestive", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Congestive heart disease", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Weak heart", "description": "" } ], "evidence": [ { "id": "6000", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "disease_id": "DOID:8283", "recommended_name": { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output." }, "synonyms": [ { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "Retractile mesenteritis", "description": "" }, { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "acute generalized peritonitis", "description": "" }, { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "primary bacterial peritonitis", "description": "" }, { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "sclerosing mesenteritis", "description": "" } ], "evidence": [ { "id": "8283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ] }, { "disease_id": "DOID:9206", "recommended_name": { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium." }, "synonyms": [ { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett esophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's esophagus with esophagitis", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's oesophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's ulcer of esophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barretts syndrome", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "ulcerative esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus", "description": "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "BE", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus/esophageal adenocarcinoma", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's esophagus with esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's oesophagus with esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's ulcer of esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's ulcer of oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barretts syndrome", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "CLE", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "cello", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar epithelial-lined Lower esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar epithelial-lined Lower oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar-lined esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar-lined oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "ulcerative esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett metaplasia", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "adenocarcinoma of esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "adenocarcinoma of oesophagus", "description": "" }, { "id": "MIM:614266", "resource": "MIM", "url": "https://www.omim.org/entry/614266", "name": "Barrett esophagus", "description": "Barrett esophagus" } ], "evidence": [ { "id": "9206", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ] }, { "disease_id": "DOID:9955", "recommended_name": { "id": "DOID:9955", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9955", "name": "hypoplastic left heart syndrome", "description": "A congenital heart disease characterized by abnormal development of the left-sided structures of the heart." }, "synonyms": [ { "id": "MONDO:0009433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009433", "name": "hypoplastic left heart syndrome 1", "description": "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene." }, { "id": "MONDO:0009433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009433", "name": "HLHS", "description": "" }, { "id": "MONDO:0009433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009433", "name": "GJA1 hypoplastic left heart syndrome", "description": "" }, { "id": "MONDO:0009433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009433", "name": "hypoplastic left heart syndrome 1", "description": "" }, { "id": "MONDO:0009433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009433", "name": "hypoplastic left heart syndrome caused by mutation in GJA1", "description": "" }, { "id": "MONDO:0009433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009433", "name": "hypoplastic left heart syndrome type 1", "description": "" }, { "id": "MONDO:0009433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009433", "name": "HLHS1", "description": "" }, { "id": "MONDO:0013752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013752", "name": "hypoplastic left heart syndrome 2", "description": "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene." }, { "id": "MONDO:0013752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013752", "name": "NKX2-5 hypoplastic left heart syndrome", "description": "" }, { "id": "MONDO:0013752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013752", "name": "hypoplastic left heart syndrome 2", "description": "" }, { "id": "MONDO:0013752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013752", "name": "hypoplastic left heart syndrome caused by mutation in NKX2-5", "description": "" }, { "id": "MONDO:0013752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013752", "name": "hypoplastic left heart syndrome type 2", "description": "" }, { "id": "MONDO:0013752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013752", "name": "HLHS2", "description": "" }, { "id": "MIM:241550", "resource": "MIM", "url": "https://www.omim.org/entry/241550", "name": "Hypoplastic left heart syndrome 1", "description": "Hypoplastic left heart syndrome 1" }, { "id": "MIM:614435", "resource": "MIM", "url": "https://www.omim.org/entry/614435", "name": "Hypoplastic left heart syndrome 2", "description": "Hypoplastic left heart syndrome 2" } ], "evidence": [ { "id": "9955", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9955" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 388, "end_pos": 388, "sequence_org": "E", "sequence_mut": "", "comment": "Loss of dimerization. Almost complete loss of DNA-binding. Reduced transcriptional repression activity.", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" }, { "database": "PubMed", "id": "14701752", "url": "https://glygen.org/publication/PubMed/14701752" } ] }, { "start_pos": 410, "end_pos": 414, "sequence_org": "PLNLV", "sequence_mut": "AANAA", "comment": "No significant effect on transcriptional repression activity.", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" }, { "database": "PubMed", "id": "14701752", "url": "https://glygen.org/publication/PubMed/14701752" } ] } ], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Foxp1", "url": "https://www.uniprot.org/uniprot/P58462", "locus": { "chromosome": "6", "start_pos": 98902299, "end_pos": 99499682, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000030067", "url": "https://www.ensembl.org/id/ENSMUSG00000030067" } ] } } ], "crossref": [ { "id": "ENSMUSG00000030067", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000030067", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd20065", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20065", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "108655", "url": "https://www.ncbi.nlm.nih.gov/gene/108655", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "P58462", "url": "https://www.ebi.ac.uk/intact/interactors/id:P58462*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001766", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001766", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030456", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030456", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032354", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032354", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036390", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036390", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047412", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047412", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:108655", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:108655", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "1914004", "url": "http://www.informatics.jax.org/marker/MGI:1914004", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "P58462", "url": "https://oglcnac.org/atlas/detail/P58462", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P58462", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P58462", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "HEEHSHN", "url": "https://omabrowser.org/oma/group/HEEHSHN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5385885at2759", "url": "http://www.orthodb.org/?query=5385885at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45796", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45796", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45796:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45796:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00250", "url": "http://pfam.xfam.org/family/PF00250", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16159", "url": "http://pfam.xfam.org/family/PF16159", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P58462", "url": "http://purl.obolibrary.org/obo/PR_P58462", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001184250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184250", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0R4J1H9", "url": "https://www.uniprot.org/uniprot/A0A0R4J1H9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4J1H9-1", "url": "https://www.uniprot.org/uniprot/A0A0R4J1H9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4J282", "url": "https://www.uniprot.org/uniprot/A0A0R4J282", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4J282-1", "url": "https://www.uniprot.org/uniprot/A0A0R4J282-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z0J5", "url": "https://www.uniprot.org/uniprot/D3Z0J5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z0J5-1", "url": "https://www.uniprot.org/uniprot/D3Z0J5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z2T4", "url": "https://www.uniprot.org/uniprot/D3Z2T4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z2T4-1", "url": "https://www.uniprot.org/uniprot/D3Z2T4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z454", "url": "https://www.uniprot.org/uniprot/D3Z454", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z454-1", "url": "https://www.uniprot.org/uniprot/D3Z454-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z6Q3", "url": "https://www.uniprot.org/uniprot/D3Z6Q3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z6Q3-1", "url": "https://www.uniprot.org/uniprot/D3Z6Q3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z6Q4", "url": "https://www.uniprot.org/uniprot/D3Z6Q4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3Z6Q4-1", "url": "https://www.uniprot.org/uniprot/D3Z6Q4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E2S038", "url": "https://www.uniprot.org/uniprot/E2S038", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E2S038-1", "url": "https://www.uniprot.org/uniprot/E2S038-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BJ24", "url": "https://www.uniprot.org/uniprot/H3BJ24", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BJ24-1", "url": "https://www.uniprot.org/uniprot/H3BJ24-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BJ68", "url": "https://www.uniprot.org/uniprot/H3BJ68", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BJ68-1", "url": "https://www.uniprot.org/uniprot/H3BJ68-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BJM1", "url": "https://www.uniprot.org/uniprot/H3BJM1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BJM1-1", "url": "https://www.uniprot.org/uniprot/H3BJM1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BJR8", "url": "https://www.uniprot.org/uniprot/H3BJR8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BJR8-1", "url": "https://www.uniprot.org/uniprot/H3BJR8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BJZ5", "url": "https://www.uniprot.org/uniprot/H3BJZ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BJZ5-1", "url": "https://www.uniprot.org/uniprot/H3BJZ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BK30", "url": "https://www.uniprot.org/uniprot/H3BK30", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BK30-1", "url": "https://www.uniprot.org/uniprot/H3BK30-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BK38", "url": "https://www.uniprot.org/uniprot/H3BK38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BK38-1", "url": "https://www.uniprot.org/uniprot/H3BK38-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BKT4", "url": "https://www.uniprot.org/uniprot/H3BKT4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BKT4-1", "url": "https://www.uniprot.org/uniprot/H3BKT4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BL33", "url": "https://www.uniprot.org/uniprot/H3BL33", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BL33-1", "url": "https://www.uniprot.org/uniprot/H3BL33-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BLF2", "url": "https://www.uniprot.org/uniprot/H3BLF2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BLF2-1", "url": "https://www.uniprot.org/uniprot/H3BLF2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P58462-1", "url": "https://www.uniprot.org/uniprot/P58462-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P58462-2", "url": "https://www.uniprot.org/uniprot/P58462-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P58462-3", "url": "https://www.uniprot.org/uniprot/P58462-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P58462-4", "url": "https://www.uniprot.org/uniprot/P58462-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P58462-5", "url": "https://www.uniprot.org/uniprot/P58462-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQALQVARQLLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 705, "header": "sp|P58462-1|FOXP1_MOUSE Isoform 1 of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "isoforms": [ { "isoform_ac": "A0A0R4J1H9-1", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 673, "header": "tr|A0A0R4J1H9-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 99139979, "end_pos": 98907054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000113326.9", "url": "https://www.ensembl.org/id/ENSMUST00000113326.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000108952.3", "url": "https://www.ensembl.org/id/ENSMUSP00000108952.3" } ] } }, { "isoform_ac": "A0A0R4J282-1", "url": "", "sequence": { "sequence": "MMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 576, "header": "tr|A0A0R4J282-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 98993608, "end_pos": 98907054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000177437.8", "url": "https://www.ensembl.org/id/ENSMUST00000177437.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000135809.2", "url": "https://www.ensembl.org/id/ENSMUSP00000135809.2" } ] } }, { "isoform_ac": "D3Z0J5-1", "url": "", "sequence": { "sequence": "MMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISS", "length": 348, "header": "tr|D3Z0J5-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 98993608, "end_pos": 98922496, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000124058.8", "url": "https://www.ensembl.org/id/ENSMUST00000124058.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000120244.2", "url": "https://www.ensembl.org/id/ENSMUSP00000120244.2" } ] } }, { "isoform_ac": "D3Z2T4-1", "url": "", "sequence": { "sequence": "MMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRE", "length": 188, "header": "tr|D3Z2T4-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=2 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 98993608, "end_pos": 98980163, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000154163.9", "url": "https://www.ensembl.org/id/ENSMUST00000154163.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000121404.3", "url": "https://www.ensembl.org/id/ENSMUSP00000121404.3" } ] } }, { "isoform_ac": "D3Z454-1", "url": "", "sequence": { "sequence": "MMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIP", "length": 124, "header": "tr|D3Z454-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 98993608, "end_pos": 98980355, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000123992.8", "url": "https://www.ensembl.org/id/ENSMUST00000123992.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000117550.2", "url": "https://www.ensembl.org/id/ENSMUSP00000117550.2" } ] } }, { "isoform_ac": "D3Z6Q3-1", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQALQVARQLLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 706, "header": "tr|D3Z6Q3-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 99139979, "end_pos": 98907054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000113328.9", "url": "https://www.ensembl.org/id/ENSMUST00000113328.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000108954.3", "url": "https://www.ensembl.org/id/ENSMUSP00000108954.3" } ] } }, { "isoform_ac": "D3Z6Q4-1", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQALQVARQLLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 706, "header": "tr|D3Z6Q4-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 99139979, "end_pos": 98907054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000113324.9", "url": "https://www.ensembl.org/id/ENSMUST00000113324.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000108950.3", "url": "https://www.ensembl.org/id/ENSMUSP00000108950.3" } ] } }, { "isoform_ac": "E2S038-1", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQALQVARQLLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSDIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 705, "header": "tr|E2S038-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 99139979, "end_pos": 98907054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000176565.8", "url": "https://www.ensembl.org/id/ENSMUST00000176565.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000135181.2", "url": "https://www.ensembl.org/id/ENSMUSP00000135181.2" } ] } }, { "isoform_ac": "H3BJ24-1", "url": "", "sequence": { "sequence": "MMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 577, "header": "tr|H3BJ24-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 98993608, "end_pos": 98907054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000177229.8", "url": "https://www.ensembl.org/id/ENSMUST00000177229.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000134817.2", "url": "https://www.ensembl.org/id/ENSMUSP00000134817.2" } ] } }, { "isoform_ac": "H3BJ68-1", "url": "", "sequence": { "sequence": "MMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQ", "length": 107, "header": "tr|H3BJ68-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 98993608, "end_pos": 98986905, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000177507.3", "url": "https://www.ensembl.org/id/ENSMUST00000177507.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000134869.2", "url": "https://www.ensembl.org/id/ENSMUSP00000134869.2" } ] } }, { "isoform_ac": "H3BJM1-1", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 675, "header": "tr|H3BJM1-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 99139979, "end_pos": 98907054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000176850.8", "url": "https://www.ensembl.org/id/ENSMUST00000176850.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000135041.2", "url": "https://www.ensembl.org/id/ENSMUSP00000135041.2" } ] } }, { "isoform_ac": "H3BJR8-1", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGVPFAPTSHCISALSE", "length": 564, "header": "tr|H3BJR8-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 99139979, "end_pos": 98918080, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000177230.8", "url": "https://www.ensembl.org/id/ENSMUST00000177230.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000135098.2", "url": "https://www.ensembl.org/id/ENSMUSP00000135098.2" } ] } }, { "isoform_ac": "H3BJZ5-1", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQALQVARQLLLQQQQQQQQQQQQQQQQQQ", "length": 88, "header": "tr|H3BJZ5-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 99139979, "end_pos": 99052923, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000177208.2", "url": "https://www.ensembl.org/id/ENSMUST00000177208.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000135187.2", "url": "https://www.ensembl.org/id/ENSMUSP00000135187.2" } ] } }, { "isoform_ac": "H3BK30-1", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECG", "length": 30, "header": "tr|H3BK30-1|H3BK30_MOUSE Computationally mapped isoform of Forkhead box P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 99139979, "end_pos": 99139890, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000177227.8", "url": "https://www.ensembl.org/id/ENSMUST00000177227.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000135229.2", "url": "https://www.ensembl.org/id/ENSMUSP00000135229.2" } ] } }, { "isoform_ac": "H3BK38-1", "url": "", "sequence": { "sequence": "MMTPQVITPQQMQQILQQQVLSPQQLQVLLQQ", "length": 32, "header": "tr|H3BK38-1|H3BK38_MOUSE Computationally mapped isoform of Forkhead box P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=4 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 98993608, "end_pos": 98993513, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000175670.2", "url": "https://www.ensembl.org/id/ENSMUST00000175670.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000135237.2", "url": "https://www.ensembl.org/id/ENSMUSP00000135237.2" } ] } }, { "isoform_ac": "H3BKT4-1", "url": "", "sequence": { "sequence": "MMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQ", "length": 111, "header": "tr|H3BKT4-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=8 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 98993608, "end_pos": 98986896, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000175886.8", "url": "https://www.ensembl.org/id/ENSMUST00000175886.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000135517.2", "url": "https://www.ensembl.org/id/ENSMUSP00000135517.2" } ] } }, { "isoform_ac": "H3BL33-1", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 674, "header": "tr|H3BL33-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 99139979, "end_pos": 98907054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000176632.8", "url": "https://www.ensembl.org/id/ENSMUST00000176632.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000135635.2", "url": "https://www.ensembl.org/id/ENSMUSP00000135635.2" } ] } }, { "isoform_ac": "H3BLF2-1", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQALQVARQLLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSDIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 706, "header": "tr|H3BLF2-1|FOXP1_MOUSE Computationally mapped isoform of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 99139979, "end_pos": 98907054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000177307.8", "url": "https://www.ensembl.org/id/ENSMUST00000177307.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000135764.2", "url": "https://www.ensembl.org/id/ENSMUSP00000135764.2" } ] } }, { "isoform_ac": "P58462-1", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQALQVARQLLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 705, "header": "sp|P58462-1|FOXP1_MOUSE Isoform 1 of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 99139979, "end_pos": 98907054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000074346", "url": "https://www.ensembl.org/id/ENSMUST00000074346" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000073953", "url": "https://www.ensembl.org/id/ENSMUSP00000073953" } ] } }, { "isoform_ac": "P58462-2", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQALQVARQLLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 641, "header": "sp|P58462-2|FOXP1_MOUSE Isoform 2 of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": { "chromosome": "6", "start_pos": 99139979, "end_pos": 98907054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000113329", "url": "https://www.ensembl.org/id/ENSMUST00000113329" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000108955", "url": "https://www.ensembl.org/id/ENSMUSP00000108955" } ] } }, { "isoform_ac": "P58462-3", "url": "", "sequence": { "sequence": "MIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 455, "header": "sp|P58462-3|FOXP1_MOUSE Isoform 3 of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": {} }, { "isoform_ac": "P58462-4", "url": "", "sequence": { "sequence": "MMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 575, "header": "sp|P58462-4|FOXP1_MOUSE Isoform 4 of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": {} }, { "isoform_ac": "P58462-5", "url": "", "sequence": { "sequence": "MMQESGSETKSNGSAIQNGSSGGNHLLECGALRDTRSNGEAPAVDLGAADLAHVQQQQQQALQVARQLLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTSSNHSSLDLTSTCVSSSAPSKSSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNGAIRTLSLHKCFIRVEDEFGSFWTVDDEEFLRGRHIQRGRPRKYCPDENSDELGAHNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 721, "header": "sp|P58462-5|FOXP1_MOUSE Isoform 5 of Forkhead box protein P1 OS=Mus musculus OX=10090 GN=Foxp1 PE=1 SV=1 CANONICAL=P58462-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 443, "start_aa": "Thr", "end_pos": 443, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr443", "evidence": [ { "id": "P58462", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P58462" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 446, "start_aa": "Thr", "end_pos": 446, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr446", "evidence": [ { "id": "P58462", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P58462" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P58462", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P58462" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 468, "start_aa": "Ser", "end_pos": 468, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser468", "evidence": [ { "id": "P58462", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P58462" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 476, "start_aa": "Ser", "end_pos": 476, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser476", "evidence": [ { "id": "P58462", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P58462" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P58462", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P58462" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "phosphorylation": [ { "start_pos": 113, "end_pos": 113, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "site_lbl": "Ser113" }, { "start_pos": 681, "end_pos": 681, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "site_lbl": "Thr681" }, { "start_pos": 686, "end_pos": 686, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "site_lbl": "Ser686" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Yang H., Zhang L., Lu M.M., Morrisey E.E., Shu W.", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "reference": [ { "type": "PubMed", "id": "11358962", "url": "https://glygen.org/publication/PubMed/11358962" } ] }, { "title": "Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.", "journal": "The Journal of comparative neurology", "date": "2003", "authors": "Ferland RJ, Cherry TJ, Preware PO, Morrisey EE, Walsh CA", "evidence": [ { "database": "RefSeq", "id": "NP_001334274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334274" }, { "database": "RefSeq", "id": "NP_001184251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184251" }, { "database": "RefSeq", "id": "NP_001184250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184250" } ], "reference": [ { "type": "PubMed", "id": "12687690", "url": "https://glygen.org/publication/PubMed/12687690" } ] }, { "title": "Foxp4: a novel member of the Foxp subfamily of winged-helix genes co-expressed with Foxp1 and Foxp2 in pulmonary and gut tissues.", "journal": "Mech. Dev.", "date": "2002", "authors": "Lu MM, Li S, Yang H, Morrisey EE", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "reference": [ { "type": "PubMed", "id": "14516685", "url": "https://glygen.org/publication/PubMed/14516685" } ] }, { "title": "Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions.", "journal": "Mol. Cell. Biol.", "date": "2004", "authors": "Li S, Weidenfeld J, Morrisey EE", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "reference": [ { "type": "PubMed", "id": "14701752", "url": "https://glygen.org/publication/PubMed/14701752" } ] }, { "title": "Foxp1 is an essential transcriptional regulator of B cell development.", "journal": "Nat. Immunol.", "date": "2006", "authors": "Hu H., Wang B., Tucker P.W., Rao A., Nardone J., Borde M., Allred L., Maika S.", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "reference": [ { "type": "PubMed", "id": "16819554", "url": "https://glygen.org/publication/PubMed/16819554" } ] }, { "title": "Hox repertoires for motor neuron diversity and connectivity gated by a single accessory factor, FoxP1.", "journal": "Cell", "date": "2008", "authors": "Wang B., Tucker P.W., Dasen J.S., Jessell T.M., De Camilli A.", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "reference": [ { "type": "PubMed", "id": "18662545", "url": "https://glygen.org/publication/PubMed/18662545" } ] }, { "title": "Coordinated actions of the forkhead protein Foxp1 and Hox proteins in the columnar organization of spinal motor neurons.", "journal": "Neuron", "date": "2008", "authors": "Morrisey E.E., Gaber Z.B., Novitch B.G., Rousso D.L., Wellik D.", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "reference": [ { "type": "PubMed", "id": "18667151", "url": "https://glygen.org/publication/PubMed/18667151" } ] }, { "title": "Detailed expression pattern of Foxp1 and its possible roles in neurons of the spinal cord during embryogenesis.", "journal": "Dev. Neurosci.", "date": "2009", "authors": "Komori T., Morikawa Y., Senba E., Hisaoka T.", "evidence": [ { "database": "UniProtKB", "id": "E2S038", "url": "https://www.uniprot.org/uniprot/E2S038" } ], "reference": [ { "type": "PubMed", "id": "19797899", "url": "https://glygen.org/publication/PubMed/19797899" } ] }, { "title": "FoxP1 promotes midbrain identity in embryonic stem cell-derived dopamine neurons by regulating Pitx3.", "journal": "J. Neurochem.", "date": "2010", "authors": "Li M., Konstantoulas C.J., Parmar M.", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "reference": [ { "type": "PubMed", "id": "20175877", "url": "https://glygen.org/publication/PubMed/20175877" } ] }, { "title": "Foxp1 coordinates cardiomyocyte proliferation through both cell-autonomous and nonautonomous mechanisms.", "journal": "Genes Dev.", "date": "2010", "authors": "Zhang Y, Li S, Yuan L, Tian Y, Weidenfeld J, Yang J, Liu F, Chokas AL, Morrisey EE", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "reference": [ { "type": "PubMed", "id": "20713518", "url": "https://glygen.org/publication/PubMed/20713518" } ] }, { "title": "An alternative splicing switch regulates embryonic stem cell pluripotency and reprogramming.", "journal": "Cell", "date": "2011", "authors": "Gabut M, Samavarchi-Tehrani P, Wang X, Slobodeniuc V, O'Hanlon D, Sung HK, Alvarez M, Talukder S, Pan Q, Mazzoni EO, Nedelec S, Wichterle H, Woltjen K, Hughes TR, Zandstra PW, Nagy A, Wrana JL, Blencowe BJ", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "reference": [ { "type": "PubMed", "id": "21924763", "url": "https://glygen.org/publication/PubMed/21924763" } ] }, { "title": "Tandem mass spectrometry identifies many mouse brain O-GlcNAcylated proteins including EGF domain-specific O-GlcNAc transferase targets.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Alfaro JF, Gong CX, Monroe ME, Aldrich JT, Clauss TR, Purvine SO, Wang Z, Camp DG 2nd, Shabanowitz J, Stanley P, Hart GW, Hunt DF, Yang F, Smith RD", "evidence": [ { "database": "O-GlcNAc Database", "id": "P58462", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P58462" }, { "database": "O-GlcNAc Atlas", "id": "P58462", "url": "https://oglcnac.org/atlas/detail/P58462" } ], "reference": [ { "type": "PubMed", "id": "22517741", "url": "https://glygen.org/publication/PubMed/22517741" } ] }, { "title": "Foxp1/4 control epithelial cell fate during lung development and regeneration through regulation of anterior gradient 2.", "journal": "Development", "date": "2012", "authors": "Li S., Wang Y., Zhang Y., Tucker P.W., Lu M.M., Morrisey E.E., DeMayo F.J., Dekker J.D.", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "reference": [ { "type": "PubMed", "id": "22675208", "url": "https://glygen.org/publication/PubMed/22675208" } ] }, { "title": "Foxp1 maintains hair follicle stem cell quiescence through regulation of Fgf18.", "journal": "Development", "date": "2013", "authors": "Nguyen H., Tucker H., Miao Q., Dekker J.D., Garcia G.E., Howard J.M., Ku A.T., Leishman E.", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "reference": [ { "type": "PubMed", "id": "23946441", "url": "https://glygen.org/publication/PubMed/23946441" } ] }, { "title": "The transcription factor Foxp1 is a critical negative regulator of the differentiation of follicular helper T cells.", "journal": "Nat. Immunol.", "date": "2014", "authors": "Hu H., Tian L., Wang H., Wang X., Takata H., Choi Y.S., Jiang P., Geng J., Wen X., Showe L.C., Xiao C., Chang L.Y., Victora G.D., Kossenkov A.V., Becker E.K., Bi E., Crotty S., Day T.J., Erikson J., Sprout S.L., Tas J., Tucker H.O., Willen J., Wolf A.I.", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "reference": [ { "type": "PubMed", "id": "24859450", "url": "https://glygen.org/publication/PubMed/24859450" } ] }, { "title": "Cytosolic N-GlcNAc proteins are formed by the action of endo-beta-N-acetylglucosaminidase.", "journal": "Biochemical and biophysical research communications", "date": "2020", "authors": "Maynard JC, Fujihira H, Dolgonos GE, Suzuki T, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "P58462", "url": "https://oglcnac.org/atlas/detail/P58462" } ], "reference": [ { "type": "PubMed", "id": "32782141", "url": "https://glygen.org/publication/PubMed/32782141" } ] }, { "title": "Age-related loss of neural stem cell O-GlcNAc promotes a glial fate switch through STAT3 activation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "White CW 3rd, Fan X, Maynard JC, Wheatley EG, Bieri G, Couthouis J, Burlingame AL, Villeda SA", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "P58462", "url": "https://oglcnac.org/atlas/detail/P58462" } ], "reference": [ { "type": "PubMed", "id": "32848054", "url": "https://glygen.org/publication/PubMed/32848054" } ] }, { "title": "Chemoproteomic and Transcriptomic Analysis Reveals that O-GlcNAc Regulates Mouse Embryonic Stem Cell Fate through the Pluripotency Network.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2023-02-27", "authors": "Hao Yi, Li Xiang, Qin Ke, Shi Yujie, He Yanwen, Zhang Che, Cheng Bo, Zhang Xiwen, Hu Guangyu, Liang Shuyu, Tang Qi, Chen Xing", "evidence": [ { "database": "O-GlcNAc Database", "id": "P58462", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P58462" } ], "reference": [ { "type": "PubMed", "id": "36852467", "url": "https://glygen.org/publication/PubMed/36852467" } ] }, { "title": "The transcription factor Foxp1 regulates aerobic glycolysis in adipocytes and myocytes.", "journal": "The Journal of biological chemistry", "date": "2023-06", "authors": "Ma Haixia, Sukonina Valentina, Zhang Wei, Meng Fang, Subhash Santhilal, Palmgren Henrik, Alexandersson Ida, Han Huiming, Zhou Shuping, Bartesaghi Stefano, Kanduri Chandrasekhar, Enerb\u00e4ck Sven", "evidence": [ { "database": "RefSeq", "id": "NP_001334274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334274" }, { "database": "RefSeq", "id": "NP_001184251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184251" }, { "database": "RefSeq", "id": "NP_001184250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184250" } ], "reference": [ { "type": "PubMed", "id": "37150320", "url": "https://glygen.org/publication/PubMed/37150320" } ] }, { "title": "Deacetylation of FOXP1 by HDAC7 potentiates self-renewal of mesenchymal stem cells.", "journal": "Stem cell research & therapy", "date": "2023-07-28", "authors": "Ling Shifeng, Chen Tienan, Wang Shaojiao, Zhang Wei, Zhou Rujiang, Xia Xuechun, Yao Zhengju, Fan Ying, Ning Song, Liu Jiayin, Qin Lianju, Tucker Haley O, Wang Niansong, Guo Xizhi", "evidence": [ { "database": "RefSeq", "id": "NP_001184251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184251" }, { "database": "RefSeq", "id": "NP_001334274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334274" }, { "database": "RefSeq", "id": "NP_001184250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184250" } ], "reference": [ { "type": "PubMed", "id": "37507770", "url": "https://glygen.org/publication/PubMed/37507770" } ] }, { "title": "Potential roles for lncRNA Mirg/Foxp1 in an ARHL model created using C57BL/6J mice.", "journal": "Hearing research", "date": "2023-10", "authors": "Luo Xiaoqin, Hu Yaqin, Zhou Xiaoqing, Zhang Chanyuan, Feng Menglong, Yang Ting, Yuan Wei", "evidence": [ { "database": "RefSeq", "id": "NP_001184251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184251" }, { "database": "RefSeq", "id": "NP_001184250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184250" }, { "database": "RefSeq", "id": "NP_001334274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334274" } ], "reference": [ { "type": "PubMed", "id": "37579646", "url": "https://glygen.org/publication/PubMed/37579646" } ] }, { "title": "Cortex-restricted deletion of Foxp1 impairs barrel formation and induces aberrant tactile responses in a mouse model of autism.", "journal": "Molecular autism", "date": "2023-09-11", "authors": "Li Xue, Hao Shishuai, Zou Shimin, Tu Xiaomeng, Kong Weixi, Jiang Tian, Chen Jie-Guang", "evidence": [ { "database": "RefSeq", "id": "NP_001184251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184251" }, { "database": "RefSeq", "id": "NP_001184250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184250" }, { "database": "RefSeq", "id": "NP_001334274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334274" } ], "reference": [ { "type": "PubMed", "id": "37691105", "url": "https://glygen.org/publication/PubMed/37691105" } ] } ], "pathway": [ { "id": "mmu:108655", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:108655", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q498D1-1", "protein_name": "Forkhead box protein P1", "gene_name": "Foxp1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MMQESGSEAKSNGSTIQNGSSGGNHLLECGTLRDTRSNGEAPAVDLGAADLAHVQQQQQQALQVARQLLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTGSNHSSLDLTSTCVSSSAPSKTSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCDDFPAFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSGHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGSLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPIHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 711 }, "evidence": [ { "id": "45228272", "url": "http://www.informatics.jax.org/homology/45228272", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9H334-1", "protein_name": "Forkhead box protein P1", "gene_name": "FOXP1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MMQESGTETKSNGSAIQNGSGGSNHLLECGGLREGRSNGETPAVDIGAADLAHAQQQQQQALQVARQLLLQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTGNNHSSLDLTTTCVSSSAPSKTSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCEDFQSFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGNLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPVHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME", "length": 677 }, "evidence": [ { "id": "45228272", "url": "http://www.informatics.jax.org/homology/45228272", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 55, "go_terms": [ { "name": "negative regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061052", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "positive regulation of hydrogen peroxide-mediated programmed cell death", "id": "GO:1901300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901300", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of interleukin-1 beta production", "id": "GO:0032651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032651", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "monocyte activation", "id": "GO:0042117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042117", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of interleukin-12 production", "id": "GO:0032655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032655", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "osteoclast development", "id": "GO:0036035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036035", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "endothelial cell activation", "id": "GO:0042118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042118", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of tumor necrosis factor production", "id": "GO:0032680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032680", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of endothelial tube morphogenesis", "id": "GO:1901509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901509", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000341", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "negative regulation of B cell apoptotic process", "id": "GO:0002903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002903", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "striatum development", "id": "GO:0021756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021756", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "macrophage activation", "id": "GO:0042116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042116", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "positive regulation of B cell receptor signaling pathway", "id": "GO:0050861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050861", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of monocyte differentiation", "id": "GO:0045655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045655", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of defense response to bacterium", "id": "GO:1900424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900424", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of macrophage colony-stimulating factor production", "id": "GO:1901256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901256", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of action potential", "id": "GO:0098900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098900", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "innate vocalization behavior", "id": "GO:0098582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098582", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "pre-B cell differentiation", "id": "GO:0002329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002329", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "cellular response to ionomycin", "id": "GO:1904637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904637", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell proliferation", "id": "GO:0060043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060043", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "positive regulation of immunoglobulin production", "id": "GO:0002639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002639", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "ventral spinal cord development", "id": "GO:0021517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021517", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "immunoglobulin V(D)J recombination", "id": "GO:0033152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033152", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "lung secretory cell differentiation", "id": "GO:0061140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061140", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "T follicular helper cell differentiation", "id": "GO:0061470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061470", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "negative regulation of lung goblet cell differentiation", "id": "GO:1901250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901250", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "regulation of lung goblet cell differentiation", "id": "GO:1901249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901249", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "positive regulation of interleukin-21 production", "id": "GO:0032745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032745", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 15, "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": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprot/P58462" } ], "pmid": "" }, { "name": "protein self-association", "id": "GO:0043621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043621", "evidence": [ { "database": 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