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hepatocyte nuclear factor-1 beta; variant hepatic nuclear factor; VHNF1; homeoprotein LF;B3, transcription factor-2; homeoprotein LFB3 (HNF1B, TCF2)
Forms homodimers & heterodimers with LFB1.
Function:
- transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'
- binds DNA as a dimer
- can form homodimer or heterodimer with HNF1-alpha
Structure:
- belongs to the HNF1 homeobox family
- contains 1 homeobox DNA-binding domain
Compartment: nucleus
Alternative splicing: named isoforms=3
Pathology:
- defects in HNF1B are the cause of
a) maturity-onset diabetes of the young type 5 (MODY5)
b) familial hypoplastic glomerulocystic kidney disease
c) Muellerian aplasia
- defects in HNF1B may be rare genetic risk factor contributing to the development of diabetes mellitus type-2
Laboratory:
- HNF1B gene mutation
General
hepatocyte nuclear factor
homeobox protein
phosphoprotein
protein subunit
Properties
SIZE: entity length = 557 aa
MW = 61 kD
COMPARTMENT: cell nucleus
MOTIF: Dimerization {1-31}
Ser phosphorylation site {S75}
Ser phosphorylation site {S80}
homeodomain
SITE: 231-311
Database Correlations
OMIM correlations
MORBIDMAP 189907
UniProt P35680
PFAM correlations
Entrez Gene 6928
Kegg hsa:6928
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 6928
- UniProt :accession P35680
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=HNF1B
- Wikipedia: hepatocyte nuclear factors entry
http://en.wikipedia.org/wiki/hepatocyte_nuclear_factors