Human Gene FOXH1 (ENST00000377317.5) from GENCODE V44
  Description: Homo sapiens forkhead box H1 (FOXH1), mRNA. (from RefSeq NM_003923)
RefSeq Summary (NM_003923): 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].
Gencode Transcript: ENST00000377317.5
Gencode Gene: ENSG00000160973.8
Transcript (Including UTRs)
   Position: hg38 chr8:144,473,412-144,475,849 Size: 2,438 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr8:144,474,238-144,475,756 Size: 1,519 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:144,473,412-144,475,849)mRNA (may differ from genome)Protein (365 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FOXH1_HUMAN
DESCRIPTION: RecName: Full=Forkhead box protein H1; AltName: Full=Forkhead activin signal transducer 1; Short=Fast-1; Short=hFAST-1; AltName: Full=Forkhead activin signal transducer 2; Short=Fast-2;
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).
SUBUNIT: Interacts with the MH2 domains of SMAD2 and SMAD3.
INTERACTION: P16333:NCK1; NbExp=2; IntAct=EBI-1759806, EBI-389883;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Ubiquitous.
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).
SIMILARITY: Contains 1 fork-head DNA-binding domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FOXH1
Diseases sorted by gene-association score: lobar holoprosencephaly* (106), septopreoptic holoprosencephaly* (101), midline interhemispheric variant of holoprosencephaly* (101), foxh1-related holoprosencephaly* (100), microform holoprosencephaly* (97), alobar holoprosencephaly* (97), semilobar holoprosencephaly* (90), dextro-looped transposition of the great arteries (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.95 RPKM in Colon - Transverse
Total median expression: 5.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.1093-0.195 Picture PostScript Text
3' UTR -357.70826-0.433 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001766 - TF_fork_head
IPR018122 - TF_fork_head_CS
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00250 - Forkhead domain

ModBase Predicted Comparative 3D Structure on O75593
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001104 RNA polymerase II transcription cofactor activity
GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0035326 enhancer binding
GO:0043425 bHLH transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046332 SMAD binding
GO:0050681 androgen receptor binding
GO:0070410 co-SMAD binding
GO:0070412 R-SMAD binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001947 heart looping
GO:0003139 secondary heart field specification
GO:0003151 outflow tract morphogenesis
GO:0003215 cardiac right ventricle morphogenesis
GO:0003222 ventricular trabecula myocardium morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007368 determination of left/right symmetry
GO:0009653 anatomical structure morphogenesis
GO:0009952 anterior/posterior pattern specification
GO:0030154 cell differentiation
GO:0033147 negative regulation of intracellular estrogen receptor signaling pathway
GO:0035054 embryonic heart tube anterior/posterior pattern specification
GO:0035909 aorta morphogenesis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048318 axial mesoderm development
GO:0060766 negative regulation of androgen receptor signaling pathway
GO:0071345 cellular response to cytokine stimulus
GO:1900164 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
GO:2000824 negative regulation of androgen receptor activity

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0032444 activin responsive factor complex


-  Descriptions from all associated GenBank mRNAs
  BC051376 - Homo sapiens forkhead box H1, mRNA (cDNA clone IMAGE:6650515), containing frame-shift errors.
BC065377 - Homo sapiens forkhead box H1, mRNA (cDNA clone IMAGE:6645006), partial cds.
AF076292 - Homo sapiens TGF-beta/activin signal transducer FAST-1p (FAST1) mRNA, complete cds.
JD187349 - Sequence 168373 from Patent EP1572962.
JD546245 - Sequence 527269 from Patent EP1572962.
JD479924 - Sequence 460948 from Patent EP1572962.
BC111604 - Synthetic construct Homo sapiens clone IMAGE:40080553, MGC:133416 FOXH1 protein (FOXH1) mRNA, encodes complete protein.
AB463647 - Synthetic construct DNA, clone: pF1KB7176, Homo sapiens FOXH1 gene for forkhead box H1, without stop codon, in Flexi system.
JD056215 - Sequence 37239 from Patent EP1572962.
JD099130 - Sequence 80154 from Patent EP1572962.
JD116103 - Sequence 97127 from Patent EP1572962.
JD367772 - Sequence 348796 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75593 (Reactome details) participates in the following event(s):

R-HSA-1225919 Phospho R-SMAD(SMAD2/3):CO-SMAD(SMAD4):FOXH1 binds Activin Response Element
R-HSA-1181150 Signaling by NODAL
R-HSA-1502540 Signaling by Activin
R-HSA-1266738 Developmental Biology
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: D3DWM4, ENST00000377317.1, ENST00000377317.2, ENST00000377317.3, ENST00000377317.4, FAST1, FAST2, FOXH1_HUMAN, NM_003923, O75593, uc003zdc.1, uc003zdc.2, uc003zdc.3, uc003zdc.4, uc003zdc.5
UCSC ID: ENST00000377317.5
RefSeq Accession: NM_003923
Protein: O75593 (aka FOXH1_HUMAN or FXH1_HUMAN)
CCDS: CCDS6428.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.