ID:HNF4A_HUMAN DESCRIPTION: RecName: Full=Hepatocyte nuclear factor 4-alpha; Short=HNF-4-alpha; AltName: Full=Nuclear receptor subfamily 2 group A member 1; AltName: Full=Transcription factor 14; Short=TCF-14; AltName: Full=Transcription factor HNF-4; 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. PTM: 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 form homodimers and bind DNA. PTM: Acetylation at Lys-458 lowers transcriptional activation by about two-fold. 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 adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. MISCELLANEOUS: Binds fatty acids. SIMILARITY: Belongs to the nuclear hormone receptor family. NR2 subfamily. SIMILARITY: Contains 1 nuclear receptor DNA-binding domain. SEQUENCE CAUTION: Sequence=CAA54248.1; Type=Erroneous initiation; Sequence=CAA61133.1; Type=Frameshift; Positions=2, 7; Sequence=CAA61134.1; Type=Frameshift; Positions=2, 7; Sequence=CAA61135.1; Type=Frameshift; Positions=2, 7; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HNF4A"; WEB RESOURCE: Name=Wikipedia; Note=Hepatocyte nuclear factors entry; URL="http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/hnf4a/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P41235
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
GeneReviews article(s) related to gene HNF4A: hi (Nonsyndromic Genetic Hyperinsulinism Overview) mody-ov (Maturity-Onset Diabetes of the Young Overview)
Gene Model Information
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Methods, Credits, and Use Restrictions
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US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
