The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
Function:
Transcription factor. Has a lower transcription activation potential than HNF4-alpha.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed in pancreas, kidney, small intestine and testis. Weakly expressed in colon. Not expressed in liver, skeletal muscle, lung, placenta, brain, heart, peripheral blood, ovary, prostate, thymus and spleen.
Similarity:
Belongs to the nuclear hormone receptor family. NR2 subfamily.
Contains 1 nuclear receptor DNA-binding domain.
SWISS:
Q14541
Gene ID:
3174
Database links:
Entrez Gene: 3174 Human
Entrez Gene: 404168 Cow
Entrez Gene: 100050783 Horse
Entrez Gene: 30942 Mouse
Entrez Gene: 100153753 Pig
Entrez Gene: 365744 Rat
Omim: 605966 Human
SwissProt: Q14541 Human
SwissProt: Q9WUU6 Mouse
Unigene: 241529 Human
Unigene: 330897 Mouse
|
|
