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FOXO1 forkhead box O1 [ Homo sapiens (human) ]

Gene ID: 2308, updated on 27-Nov-2024

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; AllianceGenome:HGNC:3819
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
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Genomic context

See FOXO1 in Genome Data Viewer
Location:
13q14.11
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (40555667..40666641, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (39774673..39885620, complement)
RS_2024_09 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 RNY3 pseudogene 9 Neighboring gene Sharpr-MPRA regulatory region 8959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:40926515-40927014 Neighboring gene long intergenic non-protein coding RNA 598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:40956871-40957426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7604 Neighboring gene LINC00598 intron ENCODE-defined enhancer Neighboring gene RN7SK pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41019797-41020402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5279 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:41092118-41093317 Neighboring gene Sharpr-MPRA regulatory region 6999 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:41114319-41114868 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:41114869-41115418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:41115419-41115966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:41119870-41120370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:41120371-41120871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41137465-41138218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7612 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41225852-41226373 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41226374-41226894 Neighboring gene ring finger protein, LIM domain interacting pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5284 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7613 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:41254046-41254810 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41254811-41255575 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41255576-41256340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5285 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:41286412-41286912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41308619-41309202 Neighboring gene microRNA 320d-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7614 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

EBI GWAS Catalog

Description
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
EBI GWAS Catalog
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
EBI GWAS Catalog
New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
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
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables beta-catenin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables chromatin DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables nucleic acid binding EXP
Inferred from Experiment
more info
PubMed 
enables promoter-specific chromatin binding IEA
Inferred from Electronic Annotation
more info
 
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 ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA damage response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in autophagy IEA
Inferred from Electronic Annotation
more info
 
involved_in blood vessel development IEA
Inferred from Electronic Annotation
more info
 
involved_in canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to cold ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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 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 gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in insulin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in insulin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
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 insulin secretion 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 by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in neuronal stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
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 gluconeogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of smooth muscle cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
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 protein acetylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of neural precursor cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of reactive oxygen species metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of transcription initiation by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to fatty acid ISS
Inferred from Sequence or Structural Similarity
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
 
is_active_in nucleus IDA
Inferred from Direct Assay
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
    O43523, Q12778, Q5VYC7, Q6NSK6
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047430204.1XP_047286160.1  forkhead box protein O1 isoform X2

  2. XM_011535008.3XP_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 ...
  3. XM_011535010.3XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    39774673..39885620 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374285.1XP_054230260.1  forkhead box protein O1 isoform X1