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FOXH1 forkhead box H1 [ Homo sapiens (human) ]

Gene ID: 8928, updated on 24-Nov-2020

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
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

Genomic context

See FOXH1 in Genome Data Viewer
Location:
8q24.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144473412..144475849, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145699115..145701718, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene tonsoku like, DNA repair protein Neighboring gene TONSL antisense RNA 1 Neighboring gene microRNA 6893 Neighboring gene cysteine and histidine rich 1 Neighboring gene microRNA 10400 Neighboring gene kinesin family member C2 Neighboring gene protein phosphatase 1 regulatory subunit 16A Neighboring gene uncharacterized LOC101928953 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
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available
Holoprosencephaly sequence
MedGen: C0079541 GeneReviews: Holoprosencephaly Overview
Compare labs

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
R-SMAD binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
R-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
androgen receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
cis-regulatory region sequence-specific DNA binding IC
Inferred by Curator
more info
PubMed 
co-SMAD binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
aorta morphogenesis IEA
Inferred from Electronic Annotation
more info
 
axial mesoderm development IEA
Inferred from Electronic Annotation
more info
 
cardiac right ventricle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cellular response to cytokine stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic heart tube anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
heart looping IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of androgen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of intracellular estrogen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry NAS
Non-traceable Author Statement
more info
PubMed 
outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
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 by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
secondary heart field specification IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transforming growth factor beta receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
ventricular trabecula myocardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
activin responsive factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activin responsive factor complex IDA
Inferred from Direct Assay
more info
PubMed 
chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IC
Inferred by Curator
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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