FOXH1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | FOXH1 |
| Official Name | forkhead box H1 [Source:HGNC Symbol;Acc:HGNC:3814] |
| Ensembl ID | ENSG00000160973 |
| Bio databases IDs | |
| Aliases | forkhead box H1, forkhead activin signal transducer-1 |
| Synonyms | FAST-1, Fast2, forkhead box H1, Tgf-β activin signal transducer fast-1p |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FOXH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- SMAD binding
- transcription regulator
- FH_FOX
- DNA binding domain
- nucleic acid binding
- smad binding domain
- transcription co-repressor
- androgen receptor binding
- transcription factor binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- Forkhead domain
- FORKHEAD
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- transcription factor activity
Pathways
Biological processes and signaling networks where the FOXH1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- growth failure
- failure of heart looping
- hypoplasia
- holoprosencephaly
- edema
- yolk sac neoplasm
- germ cell neoplasia
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FOXH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryonic heart tube anterior/posterior pattern specification
- transforming growth factor beta receptor signaling pathway
- determination of left/right asymmetry in lateral mesoderm
- outflow tract morphogenesis
- negative regulation of sequence-specific DNA binding transcription factor activity
- positive regulation of transcription from RNA polymerase II promoter
- ventricular trabecula myocardium morphogenesis
- axial mesoderm development
- nodal signaling pathway
- negative regulation of androgen receptor signaling pathway
- negative regulation of transcription from RNA polymerase II promoter
- cardiac right ventricle morphogenesis
- secondary heart field specification
- aorta morphogenesis
- hepatocyte differentiation
- positive regulation of transcription, DNA-dependent
- heart looping
- negative regulation of intracellular estrogen receptor signaling pathway
- cellular response to cytokine stimulus
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- activin responsive factor complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- bHLH transcription factor binding
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- androgen receptor binding
- SMAD binding
- R-SMAD binding
- co-SMAD binding