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)
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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
Alternative splicing
Pathology
- defects in HNF4A are the cause of maturity onset diabetes of the young type 1 (MODY1)
Laboratory
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P41235.html
- ↑ 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
Database
- UniProt: http://www.uniprot.org/uniprot/P41235.html
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3172
- OMIM: https://mirror.omim.org/entry/125850
- OMIM: https://mirror.omim.org/entry/600281
- OMIM: https://mirror.omim.org/entry/606391
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3172