Member database | Pfam |
Pfam type | family |
Short name | HNF-1B_C |
Author | Kerrison ND;0000-0002-1471-953X |
Sequence Ontology | 0100021 |
Description
This family consists of a region found within the alpha isoform and at the C terminus of the beta isoform of the homeobox-containing transcription factor of HNF-1. Different isoforms of HNF-1 are generated by the differential use of polyadenylation sites and by alternative splicing. The C-terminal region of HNF-1 is responsible for the activation of transcription
[1]. Mutations and polymorphisms in HNF-1 cause the type 3 form of maturity-onset diabetes of the young (MODY3)
[2].
References
1.More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing. Bach I, Yaniv M. EMBO J. 12, 4229-42, (1993). View articlePMID: 7900999
2.A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1alpha gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge. Urhammer SA, Fridberg M, Hansen T, Rasmussen SK, Moller AM, Clausen JO, Pedersen O. Diabetes 46, 912-6, (1997). View articlePMID: 9133564