HNF4A Antibody – Goat Polyclonal

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]

HNF4 alpha: a nuclear transcription factor which binds DNA as a homodimer. Controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic gene, alpha 1-antitrypsin, apolipoprotein CIII, and transthyretin genes. May be essential for development of the liver, kidney and intestine. Mutations have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Four alternatively spliced isoforms have been described.

Protein type: Transcription factor; DNA-binding; Nuclear receptor

Chromosomal Location of Human Ortholog: 20q13.12

Cellular Component: cytoplasm; nucleoplasm; nucleus; transcription factor complex

Molecular Function: acyl-CoA binding; DNA binding; fatty acid binding; ligand-dependent nuclear receptor activity; palmitoyl-CoA hydrolase activity; protein binding; protein homodimerization activity; receptor binding; RNA polymerase II transcription factor activity, enhancer binding; steroid hormone receptor activity; transcription factor activity; zinc ion binding

Biological Process: acyl-CoA metabolic process; blood coagulation; cell differentiation; establishment of tissue polarity; glucose homeostasis; intercellular junction assembly and maintenance; intracellular receptor-mediated signaling pathway; lipid homeostasis; lipid metabolic process; negative regulation of cell growth; negative regulation of cell proliferation; negative regulation of mitotic cell cycle; negative regulation of protein import into nucleus, translocation; negative regulation of transcription factor activity; negative regulation of tyrosine phosphorylation of Stat5 protein; ornithine metabolic process; phospholipid homeostasis; positive regulation of fatty acid biosynthetic process; positive regulation of gluconeogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of gastrulation; regulation of insulin secretion; regulation of lipid metabolic process; regulation of microvillus biogenesis; regulation of transcription from RNA polymerase II promoter; response to cAMP; response to drug; response to glucose stimulus; sex differentiation; steroid hormone mediated signaling; transcription initiation from RNA polymerase II promoter; xenobiotic metabolic process

Disease: Diabetes Mellitus, Noninsulin-dependent; Fanconi Renotubular Syndrome 4 With Maturity-onset Diabetes Of The Young; Maturity-onset Diabetes Of The Young, Type 1