HNF1A: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

HNF1A

Aliases

HNF-1A, HNF1, HNF4A, IDDM20, LFB1, MODY3, TCF-1, TCF1

Entrez Gene ID

6927

Gene Name

HNF1 homeobox A

Chromosomal Location

12q24.31

HGNC ID

HGNC:11621

Summary

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 of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

RefSeq DNA

NG_011731.2

RefSeq mRNA

NM_000545.8, NM_001306179.2, NM_000545.5

e!Ensembl

Gene	ENSG00000135100
Transcript	ENST00000257555, ENST00000400024, ENST00000560968, ENST00000541924, ENST00000538646, ENST00000544574, ENST00000541395, ENST00000540108, ENST00000544413, ENST00000617366, ENST00000543427, ENST00000615446
Protein	ENSP00000257555, ENSP00000476181, ENSP00000453965, ENSP00000440361, ENSP00000443964, ENSP00000438565, ENSP00000443112, ENSP00000445445, ENSP00000438804, ENSP00000481967, ENSP00000439721, ENSP00000483994

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs7305618					28299548

Gene Ontology (GO)

Show/Hide all(22 )

GO ID	Ontology	Function	Evidence	Reference
GO:0001779	Biological process	Natural killer cell differentiation	IDA	11301190
GO:0006357	Biological process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006357	Biological process	Regulation of transcription by RNA polymerase II	IDA	10330009
GO:0035565	Biological process	Regulation of pronephros size	IMP	15355349
GO:0035623	Biological process	Renal glucose absorption	IMP	11269503
GO:0042593	Biological process	Glucose homeostasis	IMP	11269503, 15277395
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IBA	21873635
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IDA	1989880, 11980910, 12453420
GO:0046323	Biological process	Glucose import	IMP	11269503
GO:0060261	Biological process	Positive regulation of transcription initiation from RNA polymerase II promoter	IGI	15355349
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	15355349
GO:0005737	Cellular component	Cytoplasm	IDA	15355349
GO:0032991	Cellular component	Protein-containing complex	IDA	11980910
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	19274049
GO:0003677	Molecular function	DNA binding	IDA	1989880
GO:0003700	Molecular function	DNA-binding transcription factor activity	IBA	21873635
GO:0003700	Molecular function	DNA-binding transcription factor activity	IDA	1989880, 11980910
GO:0005515	Molecular function	Protein binding	IPI	11980910, 14500717, 19264593
GO:0044212	Molecular function	Transcription regulatory region DNA binding	IDA	12453420, 15961790
GO:0046983	Molecular function	Protein dimerization activity	IPI	12453420

Protein Information

Protein Name

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, truncated hepatocyte nuclear factor 1 alpha

Function

Refseq Proteins

NP_000536.6, NP_001293108.2, NP_000536.5

UniProt

P20823