hepatocyte nuclear factor-1 alpha; liver-specific transcription factor LF-B1; IFN production regulator factor-1; transcription factor-1 (HNF1A, TCF1, LFB1)
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Function
- forms homodimers & heterodimers with LFB3
- essential for liver-specific expression of albumin
- required for the expression of several liver specific genes
- binds to the inverted palindrome 5'-GTTAATNATTAAC-3'
- binds DNA as a dimer
Structure
- belongs to the HNF1 homeobox family
- contains 1 homeobox DNA-binding domain
Compartment
Alternative splicing
named isoforms=3
Expression
liver
Pathology
- defects in HNF1A may predispose to hepatic adenomas
- defects in HNF1A are the cause of
- maturity onset diabetes of the young type 3 (MODY3)
- susceptibility to insulin-dependent diabetes mellitus
Polymorphism
- the Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide & insulin responses
Laboratory
More general terms
References
- ↑ De Simone V, De Magistris L, Lazzaro D, Gerstner J, Monaci P, Nicosia A, Cortese R. LFB3, a heterodimer-forming homeoprotein of the LFB1 family, is expressed in specialized epithelia. EMBO J. 1991 Jun;10(6):1435-43. PMID: https://www.ncbi.nlm.nih.gov/pubmed/1673925
- ↑ Rey-Campos J, Chouard T, Yaniv M, Cereghini S. vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1. EMBO J. 1991 Jun;10(6):1445-57. PMID: https://www.ncbi.nlm.nih.gov/pubmed/1673926
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6927
- ↑ UniProt http://www.uniprot.org/uniprot/P20823.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=HNF1A
- ↑ Wikipedia: hepatocyte nuclear factors entry http://en.wikipedia.org/wiki/hepatocyte_nuclear_factors
Database
- UniProt: http://www.uniprot.org/uniprot/P20823.html
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6927
- OMIM: https://mirror.omim.org/entry/142330
- OMIM: https://mirror.omim.org/entry/142410
- OMIM: https://mirror.omim.org/entry/222100
- OMIM: https://mirror.omim.org/entry/600496
- 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=6927