• Gene id: 8928

Gene Summary

• Gene Symbol: FOXH1   Gene   UCSC   Ensembl
• Aliases: FAST-1, FAST1
• Gene name: forkhead box H1
• Alternate names: forkhead box protein H1, TGF-beta/activin signal transducer, fast-2, forkhead activin signal transducer 2, forkhead activin signal transducer-1, hFAST-1,
• Gene location: 8q24.3 (144475848: 144473411)     Exons: 3     NC_000008.11
• Gene summary(Entrez): 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]
• OMIM: 617785

Protein Summary

• Protein general information: O75593  
  • Name: Forkhead box protein H1 (Forkhead activin signal transducer 1) (Fast 1) (hFAST 1) (Forkhead activin signal transducer 2) (Fast 2)
  • Length: 365  
  • Mass: 39257
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MGPCSGSRLGPPEAESPSQPPKRRKKRYLRHDKPPYTYLAMIALVIQAAPSRRLKLAQIIRQVQAVFPFFREDYE
  GWKDSIRHNLSSNRCFRKVPKDPAKPQAKGNFWAVDVSLIPAEALRLQNTALCRRWQNGGARGAFAKDLGPYVLH
  GRPYRPPSPPPPPSEGFSIKSLLGGSGEGAPWPGLAPQSSPVPAGTGNSGEEAVPTPPLPSSERPLWPLCPLPGP
  TRVEGETVQGGAIGPSTLSPEPRAWPLHLLQGTAVPGGRSSGGHRASLWGQLPTSYLPIYTPNVVMPLAPPPTSC
  PQCPSTSPAYWGVAPETRGPPGLLCDLDALFQGVPPNKSIYDVWVSHPRDLAAPGPGWLLSWCSL

• Structural information:
  • Interpro: IPR001766  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00658 PS50039
  • CDD: cd00059
  • PDB: 5XOC
  • PDBsum: 5XOC
  • STRING: ENSP00000366534
• Other Databases: GeneCards:  FOXH1  Malacards:  FOXH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000987	cis-regulatory region sequence-specific DNA binding	IC	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0070410	co-SMAD binding	IBA	molecular function
GO:0050681	androgen receptor binding	IBA	molecular function
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0043433	negative regulation of DNA-binding transcription factor activity	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0070412	R-SMAD binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0032444	activin responsive factor complex	IBA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0071345	cellular response to cytokine stimulus	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001947	heart looping	IEA	biological process
GO:0003139	secondary heart field specification	IEA	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0035054	embryonic heart tube anterior/posterior pattern specification	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0048318	axial mesoderm development	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003215	cardiac right ventricle morphogenesis	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0032444	activin responsive factor complex	IEA	cellular component
GO:0035909	aorta morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0046332	SMAD binding	IEA	molecular function
GO:0070412	R-SMAD binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	contributes to
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0050681	androgen receptor binding	IPI	molecular function
GO:0070410	co-SMAD binding	IMP	molecular function
GO:0003677	DNA binding	IDA	contributes to
GO:0046332	SMAD binding	IPI	molecular function
GO:0070412	R-SMAD binding	IMP	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0033147	negative regulation of intracellular estrogen receptor signaling pathway	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0060766	negative regulation of androgen receptor signaling pathway	IDA	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0032444	activin responsive factor complex	IDA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:1900164	nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	NAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0005634	nucleus	IC	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray