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] See more...

Aliases for FOXH1 Gene

Aliases for FOXH1 Gene

  • Forkhead Box H1 2 3 5
  • Forkhead Activin Signal Transducer 2 3 4
  • Forkhead Box Protein H1 3 4
  • HFAST-1 3 4
  • Fast-2 3 4
  • FAST1 3 4
  • Forkhead Activin Signal Transducer-1 3
  • Forkhead Activin Signal Transducer 1 4
  • TGF-Beta/Activin Signal Transducer 3
  • FAST-1 3
  • Fast-1 4
  • FAST2 4

External Ids for FOXH1 Gene

Previous GeneCards Identifiers for FOXH1 Gene

  • GC08M143400
  • GC08M145737
  • GC08M145305
  • GC08M145704
  • GC08M145670
  • GC08M145669
  • GC08M140814
  • GC08M145698

Summaries for FOXH1 Gene

Entrez Gene Summary for FOXH1 Gene

  • 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]

GeneCards Summary for FOXH1 Gene

FOXH1 (Forkhead Box H1) is a Protein Coding gene. Diseases associated with FOXH1 include Septopreoptic Holoprosencephaly and Midline Interhemispheric Variant Of Holoprosencephaly. Among its related pathways are TGF-Beta Pathway and Heart Development. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein domain specific binding. An important paralog of this gene is FOXD2.

UniProtKB/Swiss-Prot Summary for FOXH1 Gene

  • Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element).

Gene Wiki entry for FOXH1 Gene

Additional gene information for FOXH1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOXH1 Gene

Genomics for FOXH1 Gene

GeneHancer (GH) Regulatory Elements for FOXH1 Gene

Promoters and enhancers for FOXH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J144471 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.5 481 8 HNRNPK EP300 CTCF SIN3A NRF1 USF1 POLR2G PHF8 ZBTB10 POLR2A FOXH1 lnc-CYHR1-1 PPP1R16A GPAA1 ZNF7 C8orf82 CPSF1 EEF1D VPS28 ENSG00000255050
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOXH1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FOXH1

Top Transcription factor binding sites by QIAGEN in the FOXH1 gene promoter:
  • AP-2alpha
  • Nkx2-5
  • p53
  • Sp1

Genomic Locations for FOXH1 Gene

Genomic Locations for FOXH1 Gene
chr8:144,473,412-144,476,335
(GRCh38/hg38)
Size:
2,924 bases
Orientation:
Minus strand
chr8:145,698,795-145,701,718
(GRCh37/hg19)
Size:
2,924 bases
Orientation:
Minus strand

Genomic View for FOXH1 Gene

Genes around FOXH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXH1 Gene

Proteins for FOXH1 Gene

  • Protein details for FOXH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75593-FOXH1_HUMAN
    Recommended name:
    Forkhead box protein H1
    Protein Accession:
    O75593
    Secondary Accessions:
    • D3DWM4

    Protein attributes for FOXH1 Gene

    Size:
    365 amino acids
    Molecular mass:
    39257 Da
    Quaternary structure:
    • Interacts with the MH2 domains of SMAD2 and SMAD3.

    Three dimensional structures from OCA and Proteopedia for FOXH1 Gene

neXtProt entry for FOXH1 Gene

Post-translational modifications for FOXH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXH1 Gene

Domains & Families for FOXH1 Gene

Gene Families for FOXH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for FOXH1 Gene

Suggested Antigen Peptide Sequences for FOXH1 Gene

GenScript: Design optimal peptide antigens:
  • Forkhead activin signal transducer 2 (FOXH1_HUMAN)
  • FOXH1 protein (Q6P0Y2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75593

UniProtKB/Swiss-Prot:

FOXH1_HUMAN :
  • The FM region is required for binding SMAD2/SMAD4 complexes. FM2 is more effective than FM1 and only interacts with phosphorylated SMAD2 that is in an activated SMAD complex (By similarity).
Domain:
  • The FM region is required for binding SMAD2/SMAD4 complexes. FM2 is more effective than FM1 and only interacts with phosphorylated SMAD2 that is in an activated SMAD complex (By similarity).
genes like me logo Genes that share domains with FOXH1: view

Function for FOXH1 Gene

Molecular function for FOXH1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element).
GENATLAS Biochemistry:
forkhead box H1,TGF-beta/activin signal transducer,Xenopus homolog,ubiquitously expressed,also expressed in several cancer cell lines binding SMAD2 (MADH2) and activating response element (ARE),may be in injunction with SMAD4 (MADH4)

Phenotypes From GWAS Catalog for FOXH1 Gene

Gene Ontology (GO) - Molecular Function for FOXH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 contributes_to DNA binding IDA 9389648
GO:0003700 DNA-binding transcription factor activity NAS 17507406
GO:0005515 protein binding IPI 9702198
genes like me logo Genes that share ontologies with FOXH1: view
genes like me logo Genes that share phenotypes with FOXH1: view

Human Phenotype Ontology for FOXH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FOXH1 Gene

MGI Knock Outs for FOXH1:

Animal Model Products

CRISPR Products

Targeted motifs for FOXH1 Gene
HOMER Transcription Factor Regulatory Elements motif FOXH1
  • Consensus sequence: NNTGTGGATTSS Submotif: canonical Cell Type: hESC GEO ID: GSE29422

Clone Products

  • Addgene plasmids for FOXH1

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for FOXH1 Gene

Localization for FOXH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXH1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FOXH1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FOXH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA,IDA --
GO:0005634 nucleus IEA,IDA 16120611
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA,IDA 17438144
GO:0032444 activin responsive factor complex IDA 9389648
genes like me logo Genes that share ontologies with FOXH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FOXH1 Gene

Pathways & Interactions for FOXH1 Gene

genes like me logo Genes that share pathways with FOXH1: view

Pathways by source for FOXH1 Gene

2 GeneGo (Thomson Reuters) pathways for FOXH1 Gene
  • Development_TGF-beta receptor signaling
  • Signal transduction Activin A signaling regulation
1 R&D Systems pathway for FOXH1 Gene
3 Qiagen pathways for FOXH1 Gene
  • BMP Pathway
  • SMAD Signaling Network
  • TGF-Beta Pathway

SIGNOR curated interactions for FOXH1 Gene

Activates:

Gene Ontology (GO) - Biological Process for FOXH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001947 heart looping IEA --
GO:0003139 secondary heart field specification IEA --
GO:0003151 outflow tract morphogenesis IEA --
GO:0003215 cardiac right ventricle morphogenesis IEA --
genes like me logo Genes that share ontologies with FOXH1: view

Drugs & Compounds for FOXH1 Gene

No Compound Related Data Available

Transcripts for FOXH1 Gene

mRNA/cDNA for FOXH1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for FOXH1

Alternative Splicing Database (ASD) splice patterns (SP) for FOXH1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for FOXH1 Gene

GeneLoc Exon Structure for
FOXH1

Expression for FOXH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FOXH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXH1 Gene

This gene is overexpressed in Colon - Transverse (x11.8) and Small Intestine - Terminal Ileum (x4.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FOXH1

SOURCE GeneReport for Unigene cluster for FOXH1 Gene:

Hs.708365

mRNA Expression by UniProt/SwissProt for FOXH1 Gene:

O75593-FOXH1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for FOXH1 Gene

  • Nervous system(3.4)
  • Intestine(3.1)
  • Muscle(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • pharynx
  • pituitary gland
  • skull
  • tooth
General:
  • skin
genes like me logo Genes that share expression patterns with FOXH1: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for FOXH1 Gene

Orthologs for FOXH1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FOXH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOXH1 31 30
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FOXH1 31 30
  • 84.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FOXH1 31 30
  • 84.54 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Foxh1 17 31 30
  • 80.37 (n)
rat
(Rattus norvegicus)
Mammalia Foxh1 30
  • 79.82 (n)
oppossum
(Monodelphis domestica)
Mammalia FOXH1 31
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXH1 31
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.4026 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398070 30
zebrafish
(Danio rerio)
Actinopterygii foxh1 31 30
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FHL1 31
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 22 (a)
OneToMany
CSA.5682 31
  • 18 (a)
OneToMany
Species where no ortholog for FOXH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FOXH1 Gene

ENSEMBL:
Gene Tree for FOXH1 (if available)
TreeFam:
Gene Tree for FOXH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FOXH1: view image

Paralogs for FOXH1 Gene

Variants for FOXH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FOXH1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
572194 Uncertain Significance: Holoprosencephaly sequence 144,474,362(-) C/T MISSENSE_VARIANT
574044 Uncertain Significance: Holoprosencephaly sequence 144,475,002(-) C/T MISSENSE_VARIANT
577331 Uncertain Significance: Holoprosencephaly sequence 144,474,950(-) C/T MISSENSE_VARIANT
664380 Uncertain Significance: Holoprosencephaly sequence 144,474,332(-) G/A MISSENSE_VARIANT
rs1057522833 Uncertain Significance: not provided 144,474,303(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FOXH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FOXH1 Gene

Variant ID Type Subtype PubMed ID
dgv12434n54 CNV loss 21841781
dgv12439n54 CNV loss 21841781
dgv12440n54 CNV loss 21841781
dgv907n27 CNV loss 19166990
esv29999 CNV loss 17803354
nsv428208 CNV gain 18775914
nsv470249 CNV loss 18288195
nsv515809 CNV gain+loss 19592680
nsv612936 CNV loss 21841781
nsv612940 CNV loss 21841781
nsv831489 CNV loss 17160897

Variation tolerance for FOXH1 Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.39; 54.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FOXH1 Gene

Human Gene Mutation Database (HGMD)
FOXH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXH1 Gene

Disorders for FOXH1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for FOXH1 Gene - From: GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FOXH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FOXH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FOXH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FOXH1 Gene

Publications for FOXH1 Gene

  1. Characterization of human FAST-1, a TGF beta and activin signal transducer. (PMID: 9702198) Zhou S … Vogelstein B (Molecular cell 1998) 2 3 4 23 54
  2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41 54
  3. Forkhead box H1 (FOXH1) sequence variants in ventricular septal defect. (PMID: 19525021) Wang B … Ma X (International journal of cardiology 2010) 3 41 54
  4. ELAC2, a putative prostate cancer susceptibility gene product, potentiates TGF-beta/Smad-induced growth arrest of prostate cells. (PMID: 16636667) Noda D … Kato M (Oncogene 2006) 3 23 54
  5. Selective inhibition of TGF-beta responsive genes by Smad-interacting peptide aptamers from FoxH1, Lef1 and CBP. (PMID: 15750622) Cui Q … Hoffmann FM (Oncogene 2005) 3 23 54

Products for FOXH1 Gene

Sources for FOXH1 Gene