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FOXO1 forkhead box O1 [ Homo sapiens (human) ]

Gene ID: 2308, updated on 28-Jun-2020

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

Genomic context

See FOXO1 in Genome Data Viewer
Location:
13q14.11
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (40555667..40666641, 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 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 (disease)
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

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
DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
beta-catenin binding IDA
Inferred from Direct Assay
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator binding IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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
 
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 dexamethasone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
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 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
enamel mineralization IEA
Inferred from Electronic Annotation
more info
 
endocrine pancreas development TAS
Traceable Author Statement
more info
 
energy homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
glucose homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 cardiac muscle hypertrophy in response to stress ISS
Inferred from Sequence or Structural Similarity
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 by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
neuronal stem cell population maintenance IEA
Inferred from Electronic Annotation
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 by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
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 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
 
response to fatty acid ISS
Inferred from Sequence or Structural Similarity
more info
 
response to fluoride IEA
Inferred from Electronic Annotation
more info
 
temperature homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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)

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.

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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