HNF4A Gene Summary [Human]
The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
Details
| Type | Protein Coding |
| Official Symbol | HNF4A |
| Official Name | hepatocyte nuclear factor 4 alpha [Source:HGNC Symbol;Acc:HGNC:5024] |
| Ensembl ID | ENSG00000101076 |
| Bio databases IDs | |
| Aliases | hepatocyte nuclear factor 4 alpha |
| Synonyms | FLJ39654, FRTS4, hepatic nuclear factor 4, alpha, hepatic nuclear factor 4, α, hepatocyte nuclear factor 4 alpha, hepatocyte nuclear factor 4, alpha, hepatocyte nuclear factor 4 α, hepatocyte nuclear factor 4, α, HNF-4, HNF4alpha, Hnf4 α, MODY, MODY1, NR2A1, NR2A21, TCF, TCF-14 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HNF4A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- A-B domain
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- transcription factor binding
- AF-2 transcription activation domain
- chromatin binding
- proline rich domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- nuclear receptor ligand binding domain
- AF-1 domain
- ligand-binding domain
- ligand-dependent nuclear receptor
- acyl-CoA hydrolase
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- dimerization domain
- nuclear receptor domain
- DNA binding domain
- nucleic acid binding
- fatty acid binding
- alpha helix
- arachidonic acid binding
- protein domain specific binding
- protein binding
- receptor binding
- sequence-specific DNA binding
- DNA binding
- binding protein
- double-stranded DNA binding
- acyl-CoA binding
- protein homodimerization
- hinge domain
- Ligand-binding domain of nuclear hormone receptor
- transcription factor activity
Pathways
Biological processes and signaling networks where the HNF4A gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cirrhosis
- coronary artery disease
- metabolic syndrome X
- diabetes mellitus
- non-insulin-dependent diabetes mellitus
- neoplasia
- insulin resistance
- venous thromboembolism
- ischemic stroke
- weight gain
role in cell
- expression in
- migration
- proliferation
- survival
- growth
- production in
- activation
- induction in
- number
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- interchromatin granule cluster fractions
- nuclear fraction
- Cytoplasm
- perinuclear region
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HNF4A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of cell proliferation
- anatomical structure development
- signal transduction involved in regulation of gene expression
- transcription from RNA polymerase II promoter
- blood coagulation
- positive regulation of transcription from RNA polymerase II promoter
- regulation of circadian rhythm
- cholesterol homeostasis
- phospholipid homeostasis
- regulation of insulin secretion
- sex differentiation
- response to glucose stimulus
- negative regulation of transcription, DNA-dependent
- negative regulation of cell growth
- positive regulation of transcription, DNA-dependent
- triglyceride homeostasis
- intracellular receptor mediated signaling pathway
- regulation of gastrulation
- lipid homeostasis
- ornithine metabolic process
- regulation of transcription from RNA polymerase II promoter
- rhythmic process
- lipid metabolic process
- xenobiotic metabolic process
- glucose homeostasis
- cell differentiation
- regulation of lipid metabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein homodimerization activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- chromatin binding
- receptor binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- fatty acid binding
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity