• Gene id: 6927

Gene Summary

• Gene Symbol: HNF1A   Gene   UCSC   Ensembl
• Aliases: HNF-1A, HNF1, IDDM20, LFB1, MODY3, TCF-1, TCF1
• Gene name: HNF1 homeobox A
• Alternate names: hepatocyte nuclear factor 1-alpha, HNF-1-alpha, albumin proximal factor, hepatic nuclear factor 1, interferon production regulator factor, liver-specific transcription factor LF-B1, transcription factor 1, hepatic,
• Gene location: 12q24.31 (120977682: 121002511)     Exons: 9     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause
• OMIM: 142410

Protein Summary

• Protein general information: P20823  
  • Name: Hepatocyte nuclear factor 1 alpha (HNF 1 alpha) (HNF 1A) (Liver specific transcription factor LF B1) (LFB1) (Transcription factor 1) (TCF 1)
  • Length: 631  
  • Mass: 67,356
• Sequence:

  MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAELPNGLGETRGSEDETD
  DDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLNK
  GTPMKTQKRAALYTWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPS
  KEERETLVEECNRAECIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP
  AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGG
  PLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIGLASTQAQSVPVIN
  SMGSSLTTLQPVQFSQPLHPSYQQPLMPPVQSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLIT
  DTTNLSALASLTPTKQVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQS
  SDSSNGQSHLLPSNHSVIETFISTQMASSSQ

• Structural information:
  • Interpro: IPR006899  IPR023219  IPR006898  IPR006897  IPR009057   IPR001356  IPR010982  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 1IC8 2GYP
  • PDBsum: 1IC8 2GYP
  • DIP: 33544
  • STRING: ENSP00000257555
• Other Databases: GeneCards:  HNF1A  Malacards:  HNF1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	ISS	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	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:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0030073	insulin secretion	IMP	biological process
GO:0035623	renal glucose absorption	IMP	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043234	protein complex	IDA	cellular component
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0046323	glucose import	IMP	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0046983	protein dimerization activity	IPI	molecular function
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	IGI	biological process
GO:0035565	regulation of pronephros size	IMP	biological process
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	ISS	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	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:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0030073	insulin secretion	IMP	biological process
GO:0035623	renal glucose absorption	IMP	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043234	protein complex	IDA	cellular component
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0046323	glucose import	IMP	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0046983	protein dimerization activity	IPI	molecular function
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	IGI	biological process
GO:0035565	regulation of pronephros size	IMP	biological process
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	ISS	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	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:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0030073	insulin secretion	IMP	biological process
GO:0035623	renal glucose absorption	IMP	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043234	protein complex	IDA	cellular component
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0046323	glucose import	IMP	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0046983	protein dimerization activity	IPI	molecular function
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	IGI	biological process
GO:0035565	regulation of pronephros size	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Cancer	GAD: 19349540
Cancer (pancreatic)	GAD: 19351817
Cancer (colorectal)	GAD: 19349540
Cardiovascular disease	GAD: 19198612
Coronary heart disease	GAD: 19198612
Cardiovascular disease	GAD: 20546258
Cleft defects	GAD: 20634891
Fatty liver	GAD: 20648472
Diabetes	GAD: 10807546
Diabetes	GAD: 19672314
Obesity	GAD: 21094359
Albuminuria	GAD: 11522670
Insulin resistance	GAD: 10852449
Maturity onset diabetes of the young	KEGG: H00410
Diabetes	GAD: 15660729
Diabetes	GAD: 9840451
Dyslipidemias	GAD: 19060906
Dyslipidemias	GAD: 19060906
Bone diseases	GAD: 19453261
Alzheimer's disease	GAD: 19141999
Alzheimer's disease	GAD: 19141999
Kidney diseases	GAD: 15930087
Chronic kidney failure	GAD: 19578796
Kidney diseases	GAD: 15930087
Kidney diseases	GAD: 15930087
All critical processes in epididymis epithelial function	MIK: 26808453
Familial liver adenomatosis	GAD: 14598263
Chronic renal failure	GAD: 21085059
All critical processes in epididymis epithelial function	MIK: 26808453
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26808453	All critical processes in epididymis epithelial function				Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq