HNF1A, Official Symbol HNF1Aprovided by HGNC Official Full Name HNF1 homeobox Aprovided by HGNC Primary source HGNC:HGNC:11621 See related Ensembl:ENSG00000135100 MIM:142410; AllianceGenome:HGNC:11621 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HNF1; LFB1; TCF1; HNF4A; MODY3; TCF-1; HNF-1A; IDDM20; HNF1alpha; HNF-1-alpha Summary 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] Expression Biased expression in kidney (RPKM 13.4), duodenum (RPKM 9.8) and 6 other tissues See more Orthologs mouse all