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Aliases for FOXH1 Gene

Aliases for FOXH1 Gene

  • Forkhead Box H1 2 3 5
  • Forkhead Activin Signal Transducer 2 3 4
  • HFAST-1 3 4
  • FAST-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
  • 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 Lobar Holoprosencephaly and Midline Interhemispheric Variant Of Holoprosencephaly. Among its related pathways are TGF-beta Receptor Signaling (WikiPathways) and Mesodermal Commitment Pathway. 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 FOXG1.

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

Additional gene information for FOXH1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
GH08I144471 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.5 481 8 HDGF PKNOX1 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ZNF207 ZNF143 FOXH1 PPP1R16A CPSF1 ZNF707 VPS28 ZNF7 ZNF623 ADCK5 SLC52A2 ZNF16
GH08I144468 Enhancer 0.5 ENCODE 0.4 +7.9 7902 0 SMARCA5 BCOR KLF1 HDAC2 ZMYM3 KDM1A KIFC2 FOXH1 GC08P144288
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FOXH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FOXH1 gene promoter:

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)

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.

neXtProt entry for FOXH1 Gene

Post-translational modifications for FOXH1 Gene

No Post-translational modifications

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

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

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:0001104 RNA polymerase II transcription cofactor activity IEA --
GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding IEA --
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0003677 contributes_to DNA binding IDA 9389648
GO:0003700 DNA binding transcription factor activity NAS 17507406
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:
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) , Phenotypes From GWAS Catalog , Human Phenotype Ontology 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
extracellular 2
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,IEA 16120611
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA,IEA 17438144
GO:0032444 activin responsive factor complex IDA,IEA 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

SIGNOR curated interactions for FOXH1 Gene

Activates:
Is activated by:

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

Unigene Clusters for FOXH1 Gene

Forkhead box H1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
FOXH1

Expression for FOXH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of FOXH1 Gene:

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
Organs:
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 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia FOXH1 33 34
  • 84.95 (n)
cow
(Bos Taurus)
Mammalia FOXH1 33 34
  • 84.54 (n)
mouse
(Mus musculus)
Mammalia Foxh1 33 16 34
  • 80.37 (n)
rat
(Rattus norvegicus)
Mammalia Foxh1 33
  • 79.82 (n)
oppossum
(Monodelphis domestica)
Mammalia FOXH1 34
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXH1 34
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.4026 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398070 33
zebrafish
(Danio rerio)
Actinopterygii foxh1 33 34
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FHL1 34
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 22 (a)
OneToMany
CSA.5682 34
  • 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)

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 Variation AA Info Type
rs1023680529 uncertain-significance, Holoprosencephaly 144,476,262(-) C/T 5_prime_UTR_variant
rs112028242 benign, likely-benign, not specified, Holoprosencephaly, Holoprosencephaly sequence, Colorectal cancer 144,474,963(-) T/A coding_sequence_variant, missense_variant
rs115750264 benign, likely-benign, not specified, Holoprosencephaly, Holoprosencephaly sequence 144,474,565(-) G/A/T coding_sequence_variant, synonymous_variant
rs117754060 likely-benign, not specified, Holoprosencephaly, Holoprosencephaly sequence 144,474,352(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs138792321 uncertain-significance, Holoprosencephaly sequence 144,474,287(-) T/C coding_sequence_variant, missense_variant

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

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

Disorders for FOXH1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for FOXH1 Gene - From: HGMD, 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 22 58
  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 44 58
  3. Forkhead box H1 (FOXH1) sequence variants in ventricular septal defect. (PMID: 19525021) Wang B … Ma X (International journal of cardiology 2010) 3 44 58
  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 22 58
  5. Expression of the FAST-1 transcription factor in coronary artery transplant vasculopathy and activated vascular smooth muscle cells. (PMID: 15737749) Kelemen SF … Autieri MV (The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2005) 3 22 58

Products for FOXH1 Gene

Sources for FOXH1 Gene

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