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Aliases for FOXH1 Gene

Aliases for FOXH1 Gene

  • Forkhead Box H1 2 3
  • FAST1 3 4 6
  • Forkhead Activin Signal Transducer 2 3 4
  • HFAST-1 3 4
  • FAST-1 3 4
  • Fast-2 3 4
  • Forkhead Activin Signal Transducer-1 3
  • Forkhead Activin Signal Transducer 1 4
  • TGF-Beta/Activin Signal Transducer 3
  • Forkhead Box Protein H1 3
  • 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 foxh1-related holoprosencephaly and septopreoptic holoprosencephaly. Among its related pathways are Signaling by GPCR and L1CAM interactions. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is FOXK2.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXH1 Gene

Genomics for FOXH1 Gene

Regulatory Elements for FOXH1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FOXH1 Gene

Start:
144,473,412 bp from pter
End:
144,476,335 bp from pter
Size:
2,924 bases
Orientation:
Minus strand

Genomic View for FOXH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

neXtProt entry for FOXH1 Gene

Proteomics data for FOXH1 Gene at MOPED

Post-translational modifications for FOXH1 Gene

No Post-translational modifications

Other Protein References for FOXH1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for FOXH1 Gene

Domains for FOXH1 Gene

Gene Families for FOXH1 Gene

HGNC:
  • FOX :Forkhead boxes

Protein Domains for FOXH1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FOXH1 Gene

Graphical View of Domain Structure for InterPro Entry

O75593

UniProtKB/Swiss-Prot:

FOXH1_HUMAN :
  • O75593
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).
  • Contains 1 fork-head DNA-binding domain.
genes like me logo Genes that share domains with FOXH1: view

Function for FOXH1 Gene

Molecular function for FOXH1 Gene

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)
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).

Gene Ontology (GO) - Molecular Function for FOXH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA --
GO:0001104 RNA polymerase II transcription cofactor activity IEA --
GO:0001190 RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0001205 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 contributes_to DNA binding IDA 9389648
genes like me logo Genes that share ontologies with FOXH1: view
genes like me logo Genes that share phenotypes with FOXH1: view

Animal Models for FOXH1 Gene

MGI Knock Outs for FOXH1:

Animal Model Products

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FOXH1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targeting for FOXH1 Gene

Localization for FOXH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXH1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOXH1 Gene COMPARTMENTS Subcellular localization image for FOXH1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for FOXH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 21828274
GO:0005634 nucleus IDA 16120611
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 17438144
GO:0032444 activin responsive factor complex IDA 9389648
genes like me logo Genes that share ontologies with FOXH1: view

Pathways for FOXH1 Gene

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

Pathways by source for FOXH1 Gene

Gene Ontology (GO) - Biological Process for FOXH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter --
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

Transcripts for FOXH1 Gene

mRNA/cDNA for FOXH1 Gene

(24) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FOXH1 Gene

Forkhead box H1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FOXH1

Primer Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
FOXH1

Expression for FOXH1 Gene

mRNA expression in normal human tissues 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 (11.8) and Small Intestine - Terminal Ileum (4.2).

SOURCE GeneReport for Unigene cluster for FOXH1 Gene Hs.708365

mRNA Expression by UniProt/SwissProt for FOXH1 Gene

O75593-FOXH1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with FOXH1: view

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and 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
cow
(Bos Taurus)
Mammalia FOXH1 35
  • 84.54 (n)
  • 83.8 (a)
FOXH1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOXH1 35
  • 84.95 (n)
  • 83.43 (a)
FOXH1 36
  • 52 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Foxh1 35
  • 80.37 (n)
  • 77.53 (a)
Foxh1 16
Foxh1 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FOXH1 35
  • 99.63 (n)
  • 99.45 (a)
FOXH1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Foxh1 35
  • 79.82 (n)
  • 76.99 (a)
oppossum
(Monodelphis domestica)
Mammalia FOXH1 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXH1 36
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.4026 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398070 35
zebrafish
(Danio rerio)
Actinopterygii foxh1 35
foxh1 36
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FHL1 36
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
CSA.5682 36
  • 18 (a)
OneToMany
Species with no ortholog for FOXH1:
  • 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)

Paralogs for FOXH1 Gene

Pseudogenes.org Pseudogenes for FOXH1 Gene

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

Variants for FOXH1 Gene

Sequence variations from dbSNP and Humsavar for FOXH1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs1871545 -- 144,475,291(-) GCTCA(C/T)GGCGC intron-variant
rs2721177 Benign 144,474,886(+) CGGCC(A/G)TGCAG reference, synonymous-codon
rs3735844 -- 144,475,954(-) CTAAT(C/T)GTGGA utr-variant-5-prime
rs71320825 -- 144,475,306(-) CCCCT(-/C)CCCCG intron-variant
rs80356380 Benign 144,474,973(+) TGCAG(C/G)CGGAG synonymous-codon, reference

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

Variant ID Type Subtype PubMed ID
nsv470249 CNV Loss 18288195
nsv515809 CNV Gain+Loss 19592680
nsv891807 CNV Loss 21882294
nsv428208 CNV Gain 18775914
nsv891817 CNV Loss 21882294
dgv7959n71 CNV Loss 21882294
nsv891841 CNV Loss 21882294
nsv891845 CNV Gain 21882294
nsv891846 CNV Loss 21882294
nsv831489 CNV Loss 17160897
dgv7966n71 CNV Loss 21882294
dgv7968n71 CNV Loss 21882294
dgv7969n71 CNV Loss 21882294
dgv7971n71 CNV Loss 21882294
dgv7972n71 CNV Loss 21882294
dgv907n27 CNV Loss 19166990
nsv891887 CNV Gain 21882294
dgv7975n71 CNV Loss 21882294
dgv7976n71 CNV Loss 21882294
dgv7977n71 CNV Loss 21882294
dgv7978n71 CNV Loss 21882294
nsv891897 CNV Loss 21882294
esv29999 CNV Loss 17803354
dgv7979n71 CNV Loss 21882294
dgv7980n71 CNV Loss 21882294

Relevant External Links for FOXH1 Gene

HapMap Linkage Disequilibrium report
FOXH1
Human Gene Mutation Database (HGMD)
FOXH1

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

Disorders for FOXH1 Gene

(1) University of Copenhagen DISEASES for FOXH1 Gene

Relevant External Links for FOXH1

Genetic Association Database (GAD)
FOXH1
Human Genome Epidemiology (HuGE) Navigator
FOXH1
genes like me logo Genes that share disorders with FOXH1: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships 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. (Mol. Cell 1998) 2 3 4 23
  2. BF-1 interferes with transforming growth factor beta signaling by associating with Smad partners. (PMID: 10938097) Dou C. … Lai E. (Mol. Cell. Biol. 2000) 3 23
  3. Forkhead box H1 (FOXH1) sequence variants in ventricular septal defect. (PMID: 19525021) Wang B. … Ma X. (Int. J. Cardiol. 2010) 3 48
  4. Expression of the FAST-1 transcription factor in coronary artery transplant vasculopathy and activated vascular smooth muscle cells. (PMID: 15737749) Kelemen S.F. … Autieri M.V. (J. Heart Lung Transplant. 2005) 3 23
  5. Selective inhibition of TGF-beta responsive genes by Smad-interacting peptide aptamers from FoxH1, Lef1 and CBP. (PMID: 15750622) Cui Q. … Hoffmann F.M. (Oncogene 2005) 3 23

Products for FOXH1 Gene

  • Addgene plasmids for FOXH1

Sources for FOXH1 Gene

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