• Gene id: 3169

Gene Summary

• Gene Symbol: FOXA1   Gene   UCSC   Ensembl
• Aliases: HNF3A, TCF3A
• Gene name: forkhead box A1
• Alternate names: hepatocyte nuclear factor 3-alpha, HNF-3-alpha, HNF-3A, TCF-3A, forkhead box protein A1, transcription factor 3A,
• Gene location: 14q21.1 (37595248: 37589551)     Exons: 3     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar fami
• OMIM: 602294

Protein Summary

• Protein general information: P55317  
  • Name: Hepatocyte nuclear factor 3 alpha (HNF 3 alpha) (HNF 3A) (Forkhead box protein A1) (Transcription factor 3A) (TCF 3A)
  • Length: 472  
  • Mass: 49148
  • Tissue specificity: Highly expressed in prostate and ESR1-positive breast tumors. Overexpressed in esophageal and lung adenocarcinomas. {ECO
• Sequence:

  MLGTVKMEGHETSDWNSYYADTQEAYSSVPVSNMNSGLGSMNSMNTYMTMNTMTTSGNMTPASFNMSYANPGLGA
  GLSPGAVAGMPGGSAGAMNSMTAAGVTAMGTALSPSGMGAMGAQQAASMNGLGPYAAAMNPCMSPMAYAPSNLGR
  SRAGGGGDAKTFKRSYPHAKPPYSYISLITMAIQQAPSKMLTLSEIYQWIMDLFPYYRQNQQRWQNSIRHSLSFN
  DCFVKVARSPDKPGKGSYWTLHPDSGNMFENGCYLRRQKRFKCEKQPGAGGGGGSGSGGSGAKGGPESRKDPSGA
  SNPSADSPLHRGVHGKTGQLEGAPAPGPAASPQTLDHSGATATGGASELKTPASSTAPPISSGPGALASVPASHP
  AHGLAPHESQLHLKGDPHYSFNHPFSINNLMSSSEQQHKLDFKAYEQALQYSPYGSTLPASLPLGSASVTTRSPI
  EPSALEPAYYQGVYSRPVLNTS

• Structural information:
  • Interpro: IPR013638  IPR001766  IPR018533  IPR018122  IPR030456   IPR036388  IPR036390  
  • Prosite: PS00657 PS00658 PS50039
  • CDD: cd00059
  • DIP: 57138
  • STRING: ENSP00000250448
• Other Databases: GeneCards:  FOXA1  Malacards:  FOXA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071542	dopaminergic neuron differentiation	TAS	biological process
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:0030154	cell differentiation	IBA	biological process
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0032355	response to estradiol	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0045931	positive regulation of mitotic cell cycle	IMP	biological process
GO:0033148	positive regulation of intracellular estrogen receptor signaling pathway	IMP	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0006338	chromatin remodeling	ISS	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:0008134	transcription factor binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061448	connective tissue development	IEA	biological process
GO:0060741	prostate gland stromal morphogenesis	IEA	biological process
GO:0060740	prostate gland epithelium morphogenesis	IEA	biological process
GO:0060528	secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	IEA	biological process
GO:0060487	lung epithelial cell differentiation	IEA	biological process
GO:0060441	epithelial tube branching involved in lung morphogenesis	IEA	biological process
GO:0060425	lung morphogenesis	IEA	biological process
GO:0048665	neuron fate specification	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0042445	hormone metabolic process	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0006338	chromatin remodeling	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:1902691	respiratory basal cell differentiation	IEA	biological process
GO:0061144	alveolar secondary septum development	IEA	biological process
GO:0060743	epithelial cell maturation involved in prostate gland development	IEA	biological process
GO:0060738	epithelial-mesenchymal signaling involved in prostate gland development	IEA	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042593	glucose homeostasis	IEA	biological process
GO:0035239	tube morphogenesis	IEA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005902	microvillus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:2000049	positive regulation of cell-cell adhesion mediated by cadherin	IC	biological process
GO:0010719	negative regulation of epithelial to mesenchymal transition	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881