hepatocyte nuclear factor-1 beta; variant hepatic nuclear factor; VHNF1; homeoprotein LF;B3, transcription factor-2; homeoprotein LFB3 (HNF1B, TCF2)
Jump to navigation
Jump to search
Introduction
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
Alternative splicing
named isoforms=3
Pathology
- defects in HNF1B are the cause of
- maturity-onset diabetes of the young type 5 (MODY5)
- familial hypoplastic glomerulocystic kidney disease
- Muellerian aplasia
- defects in HNF1B may be rare genetic risk factor contributing to the development of diabetes mellitus type-2
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=6928
- ↑ UniProt http://www.uniprot.org/uniprot/P35680.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=HNF1B
- ↑ Wikipedia: hepatocyte nuclear factors entry http://en.wikipedia.org/wiki/hepatocyte_nuclear_factors
Database
- UniProt: http://www.uniprot.org/uniprot/P35680.html
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6928
- OMIM: https://mirror.omim.org/entry/125853
- OMIM: https://mirror.omim.org/entry/137920
- OMIM: https://mirror.omim.org/entry/158330
- OMIM: https://mirror.omim.org/entry/189907
- OMIM: https://mirror.omim.org/entry/604284
- 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=6928