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FOXO1 forkhead box O1 [ Homo sapiens (human) ]

Gene ID: 2308, updated on 17-Jun-2018
Official Symbol
FOXO1provided by HGNC
Official Full Name
forkhead box O1provided by HGNC
Primary source
HGNC:HGNC:3819
See related
Ensembl:ENSG00000150907 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]
Expression
Ubiquitous expression in ovary (RPKM 20.0), fat (RPKM 16.9) and 25 other tissues See more
Orthologs
See FOXO1 in Genome Data Viewer
Location:
13q14.11
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (40555664..40666597, 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 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Alveolar rhabdomyosarcoma
MedGen: C0206655 OMIM: 268220 GeneReviews: Not available
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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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  • AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
    AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
  • AGE/RAGE pathway, organism-specific biosystem (from WikiPathways)
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  • AKT phosphorylates targets in the nucleus, organism-specific biosystem (from REACTOME)
    AKT phosphorylates targets in the nucleus, organism-specific biosystemAfter translocation into the nucleus, AKT can phosphorylate a number of targets there such as CREB, forkhead transcription factors, SRK and NUR77.
  • AKT-mediated inactivation of FOXO1A, organism-specific biosystem (from REACTOME)
    AKT-mediated inactivation of FOXO1A, organism-specific biosystemThe unphosphorylated form of FOXO1A shuttles between the nucleus and cytoplasm, maintaining a substantial concentration of this protein in the nucleoplasm, where it functions as a transcription facto...
  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
    AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • AMPK signaling pathway, conserved biosystem (from KEGG)
    AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
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    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
  • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
  • Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystem (from WikiPathways)
    Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystemThe hepatic ANGPTL8 (Angiopoietin Like Protein 8) regulatory pathway represents an up-to-date curated interactive pathway for all of the interactions from the known regulators of ANGPTL8 and updated ...
  • Angiopoietin receptor Tie2-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
    Angiopoietin receptor Tie2-mediated signaling, organism-specific biosystem
    Angiopoietin receptor Tie2-mediated signaling
  • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
    B Cell Receptor Signaling Pathway, organism-specific biosystemThe functional B-cell receptor is a multi-protein complex consisting of an antigen binding subunit and a signaling subunit. The antigen binding subunit is the membrane bound immunoglobulin and the si...
  • BMP2-WNT4-FOXO1 Pathway in Human Primary Endometrial Stromal Cell Differentiation, organism-specific biosystem (from WikiPathways)
    BMP2-WNT4-FOXO1 Pathway in Human Primary Endometrial Stromal Cell Differentiation, organism-specific biosystemThis pathway is based on figure 6 from Li et al. BMP2 is activated by cAMP which promotes WNT4 expression in Human Primary Endometrial Stromal Cells (HPESCs) through SMAD1/5/8. WNT4 then induces FOXO...
  • CXCR4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    CXCR4-mediated signaling events, organism-specific biosystem
    CXCR4-mediated signaling events
  • Class I PI3K signaling events mediated by Akt, organism-specific biosystem (from Pathway Interaction Database)
    Class I PI3K signaling events mediated by Akt, organism-specific biosystem
    Class I PI3K signaling events mediated by Akt
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    Constitutive Androstane Receptor Pathway, organism-specific biosystemThe Constitutive Androstane Receptor (CAR) is a nuclear receptor and functions as a sensor for xenobiotics. It regulates transcription of genes encoding proteins in metabolism and excretion of xenobi...
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    Constitutive Signaling by AKT1 E17K in Cancer, organism-specific biosystemWhile AKT1 gene copy number, expression level and phosphorylation are often increased in cancer, only one low frequency point mutation has been repeatedly reported in cancer and functionally studied....
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    Copper homeostasis, organism-specific biosystemCopper is a redox-active transition metal and an essential trace element for life. It is a catalytic cofactor for numerous enzymes involved in critical biological processes (eg. detoxyfication by oxy...
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    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • DAP12 interactions, organism-specific biosystem (from REACTOME)
    DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
  • DAP12 signaling, organism-specific biosystem (from REACTOME)
    DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
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    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
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    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
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    Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystemSecond messengers (calcium, diacylglycerol, inositol 1,4,5-trisphosphate, and phosphatidyinositol 3,4,5-trisphosphate) trigger signaling pathways: NF-kappaB is activated via protein kinase C beta, RA...
  • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
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    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
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    ErbB Signaling Pathway, organism-specific biosystemThe ErbB protein family or epidermal growth factor receptor (EGFR) family is a family of four structurally related receptor tyrosine kinases. Insufficient ErbB signaling in humans is associated with ...
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    Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
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    Follicle Stimulating Hormone (FSH) signaling pathway, organism-specific biosystemThe Follicle Stimulating Hormone (FSH) is an anterior pituitary gonadotropin belonging to the family of glycoprotein hormones that includes thyroid stimulating hormone (TSH), Leutinizing Hormone (LH)...
  • FoxO family signaling, organism-specific biosystem (from Pathway Interaction Database)
    FoxO family signaling, organism-specific biosystem
    FoxO family signaling
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    GAB1 signalosome, organism-specific biosystemGAB1 is recruited to the activated EGFR indirectly, through GRB2. GAB1 acts as an adaptor protein that enables formation of an active PIK3, through recruitment of PIK3 regulatory subunit PIK3R1 (also...
  • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
    Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucagon signaling pathway, conserved biosystem (from KEGG)
    Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • IL6-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    IL6-mediated signaling events, organism-specific biosystem
    IL6-mediated signaling events
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  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
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    Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
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  • Insulin signaling pathway, conserved biosystem (from KEGG)
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    Longevity regulating pathway, organism-specific biosystemRegulation of longevity depends on genetic and environmental factors. Caloric restriction (CR), that is limiting food intake, is recognized in mammals as the best characterized and most reproducible ...
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  • Pathways in cancer, organism-specific biosystem (from KEGG)
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    Regulation of Androgen receptor activity, organism-specific biosystem
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  • Signaling events mediated by HDAC Class III, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by HDAC Class III, organism-specific biosystem
    Signaling events mediated by HDAC Class III
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  • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
    Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
  • Transcription factor regulation in adipogenesis, organism-specific biosystem (from WikiPathways)
    Transcription factor regulation in adipogenesis, organism-specific biosystemThe transcription factors involved in adipogenesis are shown in the current pathway. Adipogensis is the biological proces of cell differentation in which preadipocytes are converted into adipocytes.
  • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
    Transcriptional misregulation in cancer, organism-specific biosystem
    Transcriptional misregulation in cancer
  • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
    Transcriptional misregulation in cancer, conserved biosystem
    Transcriptional misregulation in cancer
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
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 activity, transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
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 by RNA polymerase II 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 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, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
protein acetylation 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
 
response to fluoride 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 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 
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 
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
    ENSP00000368880.4, OTTHUMP00000018301, ENST00000379561.5, OTTHUMT00000044634
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    40555664..40666597 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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