PF04812

Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus

Pfam entry
Member databasePfam
Pfam typefamily
Short nameHNF-1B_C
Author Kerrison ND;0000-0002-1471-953X
Sequence Ontology0100021

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

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