HNF1A

The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

Description

HNF1 homeobox A

Tissue specificity

Group enriched (intestine, kidney, liver, pancreas)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Cancer-related genes
Human disease related genes
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

12 (120978543 - 121002512)

Ensembl ID

ENSG00000135100  (ver. 103.38)

Orthologs

Mouse Hnf1a: ENSMUSG00000029556

UniProt

 

neXtProt

 

Human splice variants
Mouse splice variants

Protein structure