FOXH1 forkhead box H1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FOXH1provided by HGNC
Official Full Name: forkhead box H1provided by HGNC
Primary source: HGNC:HGNC:3814
See related: Ensembl:ENSG00000160973 MIM:603621; AllianceGenome:HGNC:3814
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: FAST1; FAST-1
Summary: FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided by RefSeq, Jul 2008]
Expression: Broad expression in skin (RPKM 10.3), brain (RPKM 5.3) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (144473412..144475849, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (145643152..145645589, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (145698795..145701232, complement)

Chromosome 8 - NC_000008.11 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 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?

Molecular basis for DNA recognition by the maternal pioneer transcription factor FoxH1.
Title: Molecular basis for DNA recognition by the maternal pioneer transcription factor FoxH1.
Large-scale whole-exome sequencing association study identifies FOXH1 gene and sphingolipid metabolism pathway influencing major depressive disorder.
Title: Large-scale whole-exome sequencing association study identifies FOXH1 gene and sphingolipid metabolism pathway influencing major depressive disorder.
A comprehensive analysis of FOX family in HCC and experimental evidence to support the oncogenic role of FOXH1.
Title: A comprehensive analysis of FOX family in HCC and experimental evidence to support the oncogenic role of FOXH1.
Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect.
Title: Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect.
We analyzed the expression of MELK and two putative targets, Forkhead Box M1 (FOXM1) and Enhancer of Zeste Homolog 2 (EZH2), in a collection of human iCCA by real-time RT-PCR and immunohistochemistry (IHC). The effects on iCCA growth of both the multi-kinase inhibitor OTSSP167 and specific small-interfering RNA (siRNA) against MELK were investigated in iCCA cell lines.
Title: Inhibition of MELK Protooncogene as an Innovative Treatment for Intrahepatic Cholangiocarcinoma.
FAST1 promotes the migration and invasion of colorectal cancer cells
Title: FAST1 promotes the migration and invasion of colorectal cancer cells.
These results indicate that Smad4 acts as a tumor suppressor by activating FOXH1, and then suppressing the expression of estrogen receptor, in addition to tumor migration and invasion.
Title: Smad4 suppresses the progression of renal cell carcinoma via the activation of forkhead box protein H1.
HEB and E2A-bind the SCA motif at regions overlapping SMAD2/3 and FOXH1
Title: HEB and E2A function as SMAD/FOXH1 cofactors.
Four genetic variants are found in FOXH1 that are associated with ventricular septal defects in Chinese patients.
Title: Forkhead box H1 (FOXH1) sequence variants in ventricular septal defect.
Results suggest that PKA can negatively regulate ERalpha, at least in part, through FoxH1.
Title: PKA-mediated stabilization of FoxH1 negatively regulates ERalpha activity.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Holoprosencephaly sequence MedGen: C0079541 GeneReviews: Holoprosencephaly Overview	Compare labs

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat enhances binding of SMAD2, -3 and -4 and their binding partner Fast1 to the JCV DNA control region (CR) to stimulate JCV gene transcription in living cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

FOXH1_434.2 (e-PCR)
- UniSTS:277253

NoName (e-PCR)
- UniSTS:485815

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
contributes_to DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables R-SMAD binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables R-SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables bHLH transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	IC Inferred by Curator more info	PubMed
enables co-SMAD binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables nuclear androgen receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in aorta morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in axial mesoderm development	IEA Inferred from Electronic Annotation more info
involved_in cardiac right ventricle morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to cytokine stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in determination of left/right asymmetry in lateral mesoderm	NAS Non-traceable Author Statement more info	PubMed
involved_in embryonic heart tube anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in hepatocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of androgen receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of intracellular estrogen receptor signaling pathway	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 nodal signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor 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 secondary heart field specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in ventricular trabecula myocardium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of activin responsive factor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of activin responsive factor complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: forkhead box protein H1

Names: TGF-beta/activin signal transducer; fast-2; forkhead activin signal transducer 2; forkhead activin signal transducer-1; hFAST-1

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_030003.1 RefSeqGene

Range

5487..7924

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003923.3 → NP_003914.1 forkhead box protein H1

See identical proteins and their annotated locations for NP_003914.1

Status: REVIEWED

Source sequence(s)

AC084125, AF076292, BE550635, CX782591

Consensus CDS

CCDS6428.1

UniProtKB/Swiss-Prot

D3DWM4, O75593

Related

ENSP00000366534.4, ENST00000377317.5

Conserved Domains (1) summary

cd00059
Location:33 → 111

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 ...