InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HNF4A

Summary

InnateDB Protein

IDBP-375979.5

Last Modified

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

Gene Symbol

HNF4A

Protein Name

hepatocyte nuclear factor 4, alpha

Synonyms

HNF4; HNF4a7; HNF4a8; HNF4a9; HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF14;

Species

Homo sapiens

Ensembl Protein

ENSP00000412111

InnateDB Gene

IDBG-76498 (HNF4A)

Protein Structure

UniProt Annotation

Function

Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1- antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1- alpha. May be essential for development of the liver, kidney and intestine.

Subcellular Localization

Nucleus.

Disease Associations

Maturity-onset diabetes of the young 1 (MODY1) [MIM:125850]: 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:9243109, ECO:0000269PubMed:9313765}. Note=The disease is caused by mutations affecting the gene represented in this entry.Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269PubMed:9449683}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2332 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.

Experimentally validated
Total	2332 [view]
Protein-Protein	87 [view]
Protein-DNA	2243 [view]
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001102	RNA polymerase II activating transcription factor binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003707	steroid hormone receptor activity
GO:0004879	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0005102	receptor binding
GO:0005504	fatty acid binding
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0042803	protein homodimerization activity
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0006591	ornithine metabolic process
GO:0006805	xenobiotic metabolic process
GO:0007596	blood coagulation
GO:0008285	negative regulation of cell proliferation
GO:0009749	response to glucose
GO:0010467	gene expression
GO:0019216	regulation of lipid metabolic process
GO:0030308	negative regulation of cell growth
GO:0030522	intracellular receptor signaling pathway
GO:0031018	endocrine pancreas development
GO:0042593	glucose homeostasis
GO:0043401	steroid hormone mediated signaling pathway
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0050796	regulation of insulin secretion
GO:0055088	lipid homeostasis
GO:0055091	phospholipid homeostasis
GO:0060398	regulation of growth hormone receptor signaling pathway
GO:0070328	triglyceride homeostasis
GO:2000189	positive regulation of cholesterol homeostasis

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR000003 Retinoid X receptor/HNF4
IPR000536 Nuclear hormone receptor, ligand-binding, core
IPR001628 Zinc finger, nuclear hormone receptor-type
IPR001723 Steroid hormone receptor
IPR003068 Transcription factor COUP
IPR008946 Nuclear hormone receptor, ligand-binding

PFAM

PF00104
PF00105

PRINTS

PR00545
PR00047
PR00398
PR01282

PIRSF

SMART

SM00430
SM00399

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt