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    FOXO1 forkhead box O1 [ Homo sapiens (human) ]

    Gene ID: 2308, updated on 17-Oct-2021

    Summary

    Official Symbol
    FOXO1provided by HGNC
    Official Full Name
    forkhead box O1provided by HGNC
    Primary source
    HGNC:HGNC:3819
    See related
    Ensembl:ENSG00000150907 MIM:136533
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 20.0), fat (RPKM 16.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FOXO1 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (40555667..40666641, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (41129804..41240778, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 598 Neighboring gene LINC00598 intron ENCODE-defined enhancer Neighboring gene RN7SK pseudogene 2 Neighboring gene ring finger protein, LIM domain interacting pseudogene 1 Neighboring gene microRNA 320d-1 Neighboring gene mitochondrial ribosomal protein S31

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Alveolar rhabdomyosarcoma
    MedGen: C0206655 OMIM: 268220 GeneReviews: Not available
    Compare labs
    Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
    GeneReviews: Not available
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    GeneReviews: Not available
    New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase 2A binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription coactivator binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cellular response to DNA damage stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to cold ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hyperoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to insulin stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to nitric oxide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to starvation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in enamel mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in energy homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in insulin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in insulin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cardiac muscle hypertrophy in response to stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of stress-activated MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein acetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to fatty acid ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to fluoride IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in temperature homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    forkhead box protein O1
    Names
    forkhead box protein O1A
    forkhead, Drosophila, homolog of, in rhabdomyosarcoma

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4957..115931
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1409

    mRNA and Protein(s)

    1. NM_002015.4NP_002006.2  forkhead box protein O1

      See identical proteins and their annotated locations for NP_002006.2

      Status: REVIEWED

      Source sequence(s)
      AF032885, AL133318, AL355132
      Consensus CDS
      CCDS9371.1
      UniProtKB/Swiss-Prot
      Q12778
      Related
      ENSP00000368880.4, ENST00000379561.6
      Conserved Domains (3) 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 ...
      pfam16675
      Location:423500
      FOXO_KIX_bdg; KIX-binding domain of forkhead box O, CR2
      pfam16676
      Location:597633
      FOXO-TAD; Transactivation domain of FOXO protein family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      40555667..40666641 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535008.2XP_011533310.1  forkhead box protein O1 isoform X1

      Conserved Domains (3) summary
      pfam16675
      Location:242319
      FOXO_KIX_bdg; KIX-binding domain of forkhead box O, CR2
      pfam16676
      Location:416452
      FOXO-TAD; Transactivation domain of FOXO protein family
      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_011535010.2XP_011533312.1  forkhead box protein O1 isoform X2

      Conserved Domains (2) summary
      pfam16675
      Location:186263
      FOXO_KIX_bdg; KIX-binding domain of forkhead box O, CR2
      pfam16676
      Location:360396
      FOXO-TAD; Transactivation domain of FOXO protein family
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