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hepatocyte nuclear factor-4 alpha (HNF-4-alpha, transcription factor HNF-4, nuclear receptor subfamily 2 group A member 1, transcription factor 14, HNF4A, HNF4, NR2A1, TCF14)
Function:
- transcriptionally controlled transcription factor
- binds to DNA sites required for the transcription of alpha 1-antitrypsin, apolipoprotein CIII, transthyretin genes & HNF1-alpha
- may be essential for development of the liver, kidney & intestine
- phosphorylated on Tyr
- phosphorylation is important for its DNA-binding activity
- phosphorylation may directly or indirectly play a regulatory role in the subnuclear distribution
- binds fatty acids
Structure:
- homodimerization is required for HNF4-alpha to bind to its recognition site
- belongs to the nuclear hormone receptor family, NR2 subfamily
- contains 1 nuclear receptor DNA-binding domain
Compartment: nucleus
Alternative splicing:
- named isoforms=7
- additional isoforms seem to exist
- alternative promoter usage
Pathology:
- defects in HNF4A are the cause of maturity onset diabetes of the young type 1 (MODY1)
Laboratory:
- HNF4A gene mutation
General
hepatocyte nuclear factor
phosphoprotein
Properties
SIZE: entity length = 474 aa
MW = 53 kD
COMPARTMENT: cell nucleus
MOTIF: DNA-binding motif
SITE: 57-132
MOTIF: Zn finger C4-type
SITE: 60-80
EFFECTOR-BOUND: Zn+2
Zn finger C4-type
SITE: 96-120
EFFECTOR-BOUND: Zn+2
Thr phosphorylation site {T429}
Thr phosphorylation site {T432}
Database Correlations
OMIM correlations
UniProt P41235
PFAM correlations
Entrez Gene 3172
Kegg hsa:3172
References
- UniProt :accession P41235
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=HNF4A
- Wikipedia; Note: hepatocyte nuclear factors entry
http://en.wikipedia.org/wiki/hepatocyte_nuclear_factors