InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HNF1A

Summary

InnateDB Protein

IDBP-61095.6

Last Modified

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

Gene Symbol

HNF1A

Protein Name

HNF1 homeobox A

Synonyms

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

Species

Homo sapiens

Ensembl Protein

ENSP00000257555

InnateDB Gene

IDBG-61093 (HNF1A)

Protein Structure

UniProt Annotation

Function

Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'- GTTAATNATTAAC-3'. {ECO:0000269PubMed:10966642, ECO:0000269PubMed:12453420}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108, ECO:0000269PubMed:10966642}.

Disease Associations

Hepatic adenomas familial (HEPAF) [MIM:142330]: Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3). Note=The disease is caused by mutations affecting the gene represented in this entry. Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an early step in the developmant of some hepatocellular carcinomas.Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269PubMed:10078571, ECO:0000269PubMed:10102714, ECO:0000269PubMed:10482964, ECO:0000269PubMed:10588527, ECO:0000269PubMed:8945470, ECO:0000269PubMed:9032114, ECO:0000269PubMed:9075818, ECO:0000269PubMed:9075819, ECO:0000269PubMed:9097962, ECO:0000269PubMed:9166684, ECO:0000269PubMed:9287053, ECO:0000269PubMed:9392505, ECO:0000269PubMed:9626139, ECO:0000269PubMed:9754819}. Note=The disease is caused by mutations affecting the gene represented in this entry.Diabetes mellitus, insulin-dependent, 20 (IDDM20) [MIM:612520]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269PubMed:10333057, ECO:0000269PubMed:9313763, ECO:0000269PubMed:9867222}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Liver.

Comments

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: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: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:0060395	SMAD protein signal transduction

Cellular Component

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

Protein Structure and Domains

PDB ID

InterPro

IPR001356 Homeobox domain
IPR006897 Hepatocyte nuclear factor 1, beta isoform, C-terminal
IPR006898 Hepatocyte nuclear factor 1, alpha isoform C-terminal
IPR006899 Hepatocyte nuclear factor 1, N-terminal
IPR009057 Homeodomain-like
IPR010982 Lambda repressor-like, DNA-binding domain
IPR023219 Hepatocyte nuclear factor 1, dimerisation domain

PFAM

PF00046
PF04812
PF04813
PF04814
PF13413

PRINTS

PIRSF

SMART

SM00389

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

PhosphoSite