FOXO1 forkhead box O1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of the FOXO1-ROCK1 axis mitigates cardiomyocyte injury under chronic hypoxia in Tetralogy of Fallot by maintaining mitochondrial quality control.
Title: Inhibition of the FOXO1-ROCK1 axis mitigates cardiomyocyte injury under chronic hypoxia in Tetralogy of Fallot by maintaining mitochondrial quality control.
miR-132-3p downregulates FOXO1 in CD4[+] T cells and is associated with disease manifestations in patients with lupus.
Title: miR-132-3p downregulates FOXO1 in CD4(+) T cells and is associated with disease manifestations in patients with lupus.
FOXO1 induced fatty acid oxidation in hepatic cells by targeting ALDH1L2.
Title: FOXO1 induced fatty acid oxidation in hepatic cells by targeting ALDH1L2.
Circular RNA circMRPS35 represses malignant progression in osteosarcoma cells via targeting miR-105-5p/FOXO1.
Title: Circular RNA circMRPS35 represses malignant progression in osteosarcoma cells via targeting miR-105-5p/FOXO1.
STK3 kinase activation inhibits tumor proliferation through FOXO1-TP53INP1/P21 pathway in esophageal squamous cell carcinoma.
Title: STK3 kinase activation inhibits tumor proliferation through FOXO1-TP53INP1/P21 pathway in esophageal squamous cell carcinoma.
The roles of stress-induced premature senescence and Akt/FoxO1 signaling in periapical lesions.
Title: The roles of stress-induced premature senescence and Akt/FoxO1 signaling in periapical lesions.
Forkhead box O1 transcription factor; a therapeutic target for diabetic cardiomyopathy.
Title: Forkhead box O1 transcription factor; a therapeutic target for diabetic cardiomyopathy.
SIRT1 silencing ameliorates malignancy of non-small cell lung cancer via activating FOXO1.
Title: SIRT1 silencing ameliorates malignancy of non-small cell lung cancer via activating FOXO1.
CircGNAO1 suppresses hepatocellular carcinoma progression and metastasis via sponging miR-182-5p and regulating FOXO1 expression.
Title: CircGNAO1 suppresses hepatocellular carcinoma progression and metastasis via sponging miR-182-5p and regulating FOXO1 expression.
FoxO1-Overexpressed Small Extracellular Vesicles Derived from hPDLSCs Promote Periodontal Tissue Regeneration by Reducing Mitochondrial Dysfunction to Regulate Osteogenesis and Inflammation.
Title: FoxO1-Overexpressed Small Extracellular Vesicles Derived from hPDLSCs Promote Periodontal Tissue Regeneration by Reducing Mitochondrial Dysfunction to Regulate Osteogenesis and Inflammation.

Submit: New GeneRIF Correction See all GeneRIFs (730)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

FOXO1A_111 (e-PCR)
- UniSTS:277254

SHGC-153775 (e-PCR)
- UniSTS:177930

RH78770 (e-PCR)
- UniSTS:59152

RH119158 (e-PCR)
- UniSTS:139049

D13S1051 (e-PCR)
- UniSTS:152383

SHGC-82099 (e-PCR)
- UniSTS:103025

SHGC-63663 (e-PCR)
- UniSTS:47986

D13S1447 (e-PCR)
- UniSTS:37241

G64954 (e-PCR)
- UniSTS:164987

RH74854 (e-PCR)
- UniSTS:92039

PMC25098P1 (e-PCR)
- UniSTS:272280

RH93960 (e-PCR)
- UniSTS:88229

D13S1162 (e-PCR)
- UniSTS:78564

RH47740 (e-PCR)
- UniSTS:16884

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

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Preferred Names: forkhead box protein O1

Names: forkhead box protein O1A; forkhead, Drosophila, homolog of, in rhabdomyosarcoma

NCBI Reference Sequences (RefSeq)

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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

NG_023244.1 RefSeqGene

Range

4957..115931

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1409

mRNA and Protein(s)

NM_002015.4 → NP_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:160 → 240

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:423 → 500

FOXO_KIX_bdg; KIX-binding domain of forkhead box O, CR2

pfam16676
Location:597 → 633

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

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

40555667..40666641 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430204.1 → XP_047286160.1 forkhead box protein O1 isoform X2
XM_011535008.3 → XP_011533310.1 forkhead box protein O1 isoform X1

Conserved Domains (3) summary

pfam16675
Location:242 → 319

FOXO_KIX_bdg; KIX-binding domain of forkhead box O, CR2

pfam16676
Location:416 → 452

FOXO-TAD; Transactivation domain of FOXO protein family

cl00061
Location:27 → 61

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 ...
XM_011535010.3 → XP_011533312.1 forkhead box protein O1 isoform X2

Conserved Domains (2) summary

pfam16675
Location:186 → 263

FOXO_KIX_bdg; KIX-binding domain of forkhead box O, CR2

pfam16676
Location:360 → 396

FOXO-TAD; Transactivation domain of FOXO protein family