HNF1A gene

HNF1 homeobox A

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Maturity-onset diabetes of the young, type 3
  • Diabetes mellitus, insulin-dependent, 20
  • Diabetes mellitus type 2
  • Hepatic adenomas, familial
  • Renal cell carcinoma, nonpapillary
  • Diabetes mellitus type 1

From UniProt:

Maturity-onset diabetes of the young 3 (MODY3): A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. [MIM:600496]

Hepatic adenomas familial (HEPAF): Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3). [MIM:142330]

Diabetes mellitus, insulin-dependent, 20 (IDDM20): A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [MIM:612520]

Cytogenetic Location: 12q24.31, which is the long (q) arm of chromosome 12 at position 24.31

Molecular Location: base pairs 120,977,683 to 121,002,512 on chromosome 12 (Homo sapiens Updated Annotation Release 109.20200228, GRCh38.p13) (NCBI)

Cytogenetic Location: 12q24.31, which is the long (q) arm of chromosome 12 at position 24.31
  • HNF-1A
  • HNF1
  • HNF4A
  • IDDM20
  • LFB1
  • MODY3
  • TCF-1
  • TCF1