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HNF1 alpha

Function

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).

Involvement in disease

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).

None

The disease is caused by variants affecting the gene represented in this entry. Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an early step in the development of some hepatocellular carcinomas.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

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.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the HNF1 homeobox family.

Tissue specificity

Liver.

Cellular localization

  • Nucleus

Alternative names

  • Hepatocyte nuclear factor 1-alpha
  • HNF-1-alpha
  • HNF-1A
  • Liver-specific transcription factor LF-B1
  • Transcription factor 1
  • LFB1
  • TCF-1
  • HNF1A
  • TCF1

Target type

Proteins

Primary research area

Epigenetics

Molecular weight

67356Da