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FOXH1 forkhead box H1 [ Homo sapiens (human) ]

Gene ID: 8928, updated on 7-Jan-2024

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
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Genomic context

See FOXH1 in Genome Data Viewer
Location:
8q24.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144473412..144475849, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145643152..145645589, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145698795..145701232, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene TMEM276-ZFTRAF1 readthrough Neighboring gene zinc finger TRAF-type containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145687825-145688502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145688503-145689180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145689275-145689888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19690 Neighboring gene microRNA 10400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19692 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145692087-145692923 Neighboring gene transmembrane protein 276 Neighboring gene kinesin family member C2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145698787-145699682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145699683-145700576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145701473-145702366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19696 Neighboring gene protein phosphatase 1 regulatory subunit 16A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145709653-145710352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145710353-145711052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145715271-145715770 Neighboring gene uncharacterized LOC101928953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145725199-145725860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19697 Neighboring gene Sharpr-MPRA regulatory region 2015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145729171-145729831 Neighboring gene glutamic--pyruvic transaminase

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
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

HIV-1 interactions

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

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
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 
part_of chromatin IDA
Inferred from Direct Assay
more info
PubMed 
part_of 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

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

  1. NG_030003.1 RefSeqGene

    Range
    5487..7924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003923.3NP_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:33111
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    144473412..144475849 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    145643152..145645589 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)