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    FOXO1 forkhead box O1 [ Homo sapiens (human) ]

    Gene ID: 2308, updated on 16-Aug-2015
    Official Symbol
    FOXO1provided by HGNC
    Official Full Name
    forkhead box O1provided by HGNC
    Primary source
    HGNC:HGNC:3819
    See related
    Ensembl:ENSG00000150907; HPRD:00645; MIM:136533; Vega:OTTHUMG00000016775
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FKH1; FKHR; FOXO1A
    Summary
    This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]
    Orthologs
    See FOXO1 in Epigenomics, MapViewer
    Location:
    13q14.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (40555664..40666660, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (41129801..41240734, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370172 Neighboring gene RNA, Ro-associated Y3 pseudogene 9 Neighboring gene long intergenic non-protein coding RNA 598 Neighboring gene RNA, 7SK small nuclear pseudogene 2 Neighboring gene ring finger protein, LIM domain interacting pseudogene 1 Neighboring gene microRNA 320d-1 Neighboring gene mitochondrial ribosomal protein S31

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Rhabdomyosarcoma alveolar
    MedGen: C0206655 OMIM: 268220 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
    NHGRI GWA Catalog
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    NHGRI GWA Catalog
    New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.
    NHGRI GWA Catalog
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein phosphatase 2A binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cellular response to DNA damage stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to cold ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cellular response to hyperoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to insulin stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to nitric oxide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to starvation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    endocrine pancreas development TAS
    Traceable Author Statement
    more info
     
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
     
    insulin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of stress-activated MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    neuronal stem cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    neurotrophin TRK receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol-mediated signaling TAS
    Traceable Author Statement
    more info
     
    positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein acetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of energy homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neural precursor cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    temperature homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    forkhead box protein O1
    Names
    forkhead box protein O1A
    forkhead, Drosophila, homolog of, in rhabdomyosarcoma

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023244.1 RefSeqGene

      Range
      5001..115934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002015.3NP_002006.2  forkhead box protein O1

      See identical proteins and their annotated locations for NP_002006.2

      Status: REVIEWED

      Source sequence(s)
      AF032885, AL133318
      Consensus CDS
      CCDS9371.1
      UniProtKB/Swiss-Prot
      Q12778
      Related
      ENSP00000368880, OTTHUMP00000018301, ENST00000379561, OTTHUMT00000044634
      Conserved Domains (1) summary
      cd00059
      Location:160240
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

      Range
      40555664..40666660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535008.1XP_011533310.1  

      Conserved Domains (1) summary
      cl00061
      Location:2761
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    2. XM_011535009.1XP_011533311.1  

      Conserved Domains (1) summary
      cl00061
      Location:2557
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    3. XM_011535010.1XP_011533312.1  

    RNA

    1. XR_941536.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      41097585..41208493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)