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. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.

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 120,978,515 to 121,002,512 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

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