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 a, 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. Kritis A.A,et al.Gene 173:275-280(1996)Drewes T,et al.Mol. Cell. Biol. 16:925-931(1996) Yamagata K,et al.Nature 384:458-460(1996)Tanaka T,et al.Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases
Host
Rabbit
Immunogen
Peptide sequence around phosphorylation site of serine 304 (L-R-S(p)-Q-V)derived from Human HNF4a.
Involvement In Disease
Maturity-onset diabetes of the young 1 (MODY1); Diabetes mellitus, non-insulin-dependent (NIDDM); Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4)
Raised In
Rabbit
Reactivity
Human, Mouse, Rat
Regulatory
RUO
Relevance
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 a, 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.
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.
Pathway
AMPK signaling
Protein Families
Nuclear hormone receptor family, NR2 subfamily
Buffer
Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Form
Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Format
liquid
Purification
Antibodies were produced by immunizing rabbits with synthetic phosphopeptide and KLH conjugates. Antibodies were purified by affinity-chromatography using epitope-specific phosphopeptide. Non-phospho specific antibodies were removed by chromatogramphy usi
Purity
Antibodies were produced by immunizing rabbits with synthetic phosphopeptide and KLH conjugates. Antibodies were purified by affinity-chromatography using epitope-specific phosphopeptide. Non-phospho specific antibodies were removed by chromatogramphy using non-phosphopeptide.
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.