InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: HNF1A

Summary

InnateDB Gene

IDBG-61093.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HNF1A

Gene Name

HNF1 homeobox A

Synonyms

HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1; TCF1

Species

Homo sapiens

Ensembl Gene

ENSG00000135100

Encoded Proteins

IDBP-61095

HNF1 homeobox A

IDBP-808961

HNF1 homeobox A

IDBP-599915

HNF1 homeobox A

IDBP-600148

HNF1 homeobox A

IDBP-598107

HNF1 homeobox A

IDBP-583634

HNF1 homeobox A

IDBP-583150

HNF1 homeobox A

IDBP-586234

HNF1 homeobox A

IDBP-600663

HNF1 homeobox A

IDBP-603647

HNF1 homeobox A

IDBP-808989

HNF1 homeobox A

IDBP-809002

HNF1 homeobox A

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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. [provided by RefSeq, Mar 2009]
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. [provided by RefSeq, Mar 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 12:120978543-121002512

Strand

Forward strand

Band

q24.31

Transcripts

ENST00000257555	ENSP00000257555
ENST00000400024	ENSP00000476181
ENST00000402929
ENST00000560968	ENSP00000453965
ENST00000541924	ENSP00000440361
ENST00000538646	ENSP00000443964
ENST00000544574	ENSP00000438565
ENST00000535955
ENST00000538626
ENST00000541395	ENSP00000443112
ENST00000540108	ENSP00000445445
ENST00000544413	ENSP00000438804
ENST00000543255
ENST00000543427	ENSP00000439721
ENST00000615446	ENSP00000483994
ENST00000617366	ENSP00000481967

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 357 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	357 [view]
Protein-Protein	50 [view]
Protein-DNA	307 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001221	transcription cofactor binding
GO:0003677	DNA binding
GO:0003690	double-stranded DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0042803	protein homodimerization activity
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding
GO:0046982	protein heterodimerization activity
GO:0046983	protein dimerization activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001824	blastocyst development
GO:0001889	liver development
GO:0001890	placenta development
GO:0006338	chromatin remodeling
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0006633	fatty acid biosynthetic process
GO:0006699	bile acid biosynthetic process
GO:0006783	heme biosynthetic process
GO:0006979	response to oxidative stress
GO:0008104	protein localization
GO:0008203	cholesterol metabolic process
GO:0009749	response to glucose
GO:0015721	bile acid and bile salt transport
GO:0015908	fatty acid transport
GO:0030073	insulin secretion
GO:0030111	regulation of Wnt signaling pathway
GO:0030326	embryonic limb morphogenesis
GO:0031018	endocrine pancreas development
GO:0035623	renal glucose absorption
GO:0042593	glucose homeostasis
GO:0043691	reverse cholesterol transport
GO:0045453	bone resorption
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0046323	glucose import
GO:0046883	regulation of hormone secretion
GO:0048341	paraxial mesoderm formation
GO:0048608	reproductive structure development
GO:0050796	regulation of insulin secretion
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter
GO:0060395	SMAD protein signal transduction

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0005634	nucleus
GO:0005667	transcription factor complex
GO:0005737	cytoplasm
GO:0043234	protein complex
GO:0045120	pronucleus

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000029556

View Gene Order

ENSBTAG00000021795

Not yet available

Pathways

NETPATH

NetPath_18

IL6 pathway

REACTOME

REACT_13819

Regulation of gene expression in beta cells pathway

REACT_111045

Developmental Biology pathway

REACT_13698

Regulation of beta-cell development pathway

KEGG

hsa04950

Maturity onset diabetes of the young pathway

INOH

PID NCI

hnf3bpathway

FOXA2 and FOXA3 transcription factor networks

ps1pathway

Presenilin action in Notch and Wnt signaling

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.654455

RefSeq

NM_000545 XM_005253931

HUGO

OMIM

CCDS

CCDS9209

HPRD

00800

IMGT

EMBL

GenPept

RNA Seq Atlas