免 疫 原：KLH conjugated Synthesised phosphopeptide derived from human HNF4 alpha around the phosphorylation site of Ser313
抗原表位：LR(p-S)QV
SWISS：P41235
Gene ID ：3172
Human Gene ID：3172

The protein encoded by the HNF4 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. At least three different transcript variants encoding three different isoforms have been found for this gene.
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.
Subunit：Homodimerization is required for HNF4-alpha to bind to its recognition site.
Subcellular Location：Nucleus.
Post-translational modifications：Phosphorylated on tyrosine residue(s); phosphorylation is important for its DNA-binding activity. Phosphorylation may directly or indirectly play a regulatory role in the subnuclear distribution. Phosphorylation at Ser-313 by AMPK reduces the ability to f
DISEASE：Defects in HNF4A are the cause of maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]; also symbolized MODY-1. MODY is a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthoo
Similarity：Belongs to the nuclear hormone receptor family. NR2 subfamily.
Contains 1 nuclear receptor DNA-binding domain.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.