Aliases for HNF1A Gene
External Ids for HNF1A Gene
Previous HGNC Symbols for HNF1A Gene
Previous GeneCards Identifiers for HNF1A Gene
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]
GeneCards Summary for HNF1A Gene
HNF1A (HNF1 Homeobox A) is a Protein Coding gene. Diseases associated with HNF1A include Maturity-Onset Diabetes Of The Young, Type 3 and Diabetes Mellitus, Insulin-Dependent, 20. Among its related pathways are Development and heterogeneity of the ILC family and Regulation of beta-cell development. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is HNF1B.
UniProtKB/Swiss-Prot Summary for HNF1A Gene
Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:12453420, PubMed:10966642). Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity).