LMPD Database

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LMP001210

UniProt Annotations

Entry Information
Gene Namehepatocyte nuclear factor 4, alpha
Protein EntryHNF4A_HUMAN
UniProt IDP41235
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative promoter usage, Alternative splicing; Named isoforms=7; Comment=Additional isoforms seem to exist.; Name=HNF4-Alpha-1; Synonyms=HNF-4B; IsoId=P41235-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=HNF4-Alpha-2; Synonyms=HNF4-A; IsoId=P41235-2; Sequence=VSP_003674; Note=Produced by alternative splicing of isoform HNF4-Alpha-1.; Name=HNF4-Alpha-3; Synonyms=HNF4-C; IsoId=P41235-3; Sequence=VSP_003675; Note=Produced by alternative splicing of isoform HNF4-Alpha-1.; Name=HNF4-Alpha-4; IsoId=P41235-4; Sequence=VSP_003673; Note=Produced by alternative splicing of isoform HNF4-Alpha-1.; Name=HNF4-Alpha-7; IsoId=P41235-5; Sequence=VSP_026030; Note=Produced by alternative promoter usage.; Name=HNF4-Alpha-8; IsoId=P41235-6; Sequence=VSP_026030, VSP_003674; Note=Produced by alternative splicing of isoform HNF4-Alpha-7.; Name=HNF4-Alpha-9; IsoId=P41235-7; Sequence=VSP_026030, VSP_003675; Note=Produced by alternative splicing of isoform HNF4-Alpha-7.;
DiseaseDiabetes mellitus, non-insulin-dependent (NIDDM) [MIM
DiseaseMaturity-onset diabetes of the young 1 (MODY1) [MIM
FunctionTranscriptionally 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.
InteractionQ99967:CITED2; NbExp=3; IntAct=EBI-1049011, EBI-937732; A8MYZ6:FOXO6; NbExp=2; IntAct=EBI-1049011, EBI-8531039;
MiscellaneousBinds fatty acids.
PtmAcetylation at Lys-458 lowers transcriptional activation by about two-fold.
PtmPhosphorylated 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. {ECO
Sequence CautionSequence=AAB48082.1; Type=Erroneous gene model prediction; Evidence= ; Sequence=CAA54248.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=CAA61133.1; Type=Frameshift; Positions=2, 7; Evidence= ; Sequence=CAA61134.1; Type=Frameshift; Positions=2, 7; Evidence= ; Sequence=CAA61135.1; Type=Frameshift; Positions=2, 7; Evidence= ;
SimilarityBelongs to the nuclear hormone receptor family. NR2 subfamily.
SimilarityContains 1 nuclear receptor DNA-binding domain.
Subcellular LocationNucleus.
SubunitHomodimerization is required for HNF4-alpha to bind to its recognition site. Interacts with PER2.
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/hnf4a/";
Web ResourceName=Wikipedia; Note=Hepatocyte nuclear factors entry; URL="http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors";