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hepatocyte nuclear factor-1 alpha; liver-specific transcription factor LF-B1; IFN production regulator factor-1; transcription factor-1 (HNF1A, TCF1, LFB1)
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: nucleus
Alternative splicing: named isoforms=3
Expression: liver
Pathology:
- defects in HNF1A may predispose to hepatic adenomas
- defects in HNF1A are the cause of
a) maturity onset diabetes of the young type 3 (MODY3)
b) 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:
- HNF1A gene mutation
General
hepatocyte nuclear factor
homeobox protein
protein subunit
Properties
SIZE: entity length = 631 aa
MW = 67 kD
COMPARTMENT: cell nucleus
MOTIF: Dimerization {1-31}
acidic region {71-80}
MOTIF: acidic residue (SEVERAL)
Thr phosphorylation site {T74}
nuclear translocation signal {197-205}
homeodomain
SITE: 199-279
Database Correlations
OMIM correlations
MORBIDMAP 142410
UniProt P20823
PFAM correlations
Entrez Gene 6927
Kegg hsa:6927
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: 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: 1673926
- Entrez Gene :accession 6927
- UniProt :accession P20823
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=HNF1A
- Wikipedia: hepatocyte nuclear factors entry
http://en.wikipedia.org/wiki/hepatocyte_nuclear_factors