HNF1A
GeneName
HNF1A
Summary
HNF1A, also known as transcription factor 1, TCF-1, or TCF1, is a 67 kDa transcription factor that is primarily expressed in the liver and pancreas. It plays a critical role in the regulation of genes involved in glucose metabolism and insulin secretion. HNF1A is localised to the nucleus, where it binds to specific DNA sequences to activate transcription of target genes, particularly those involved in D-glucose import and glucose homeostasis. It functions as a homodimer or heterodimer and is involved in the positive regulation of transcription by RNA polymerase II, influencing processes such as liver and pancreas development.
Importance
HNF1A is relevant to: - The pathogenesis of maturity-onset diabetes of the young (MODY) due to its role in insulin secretion and glucose metabolism - Liver diseases, as it regulates genes crucial for liver function and development - Understanding renal glucose absorption mechanisms, which can impact diabetes management - The study of transcriptional regulation and its implications in developmental biology and metabolic disorders
Top Products
For researchers investigating HNF1A, we recommend two primary antibodies that cater to a variety of applications. The first is the well-cited polyclonal antibody, Anti-HNF1 alpha antibody (ab204306), which has garnered 9 citations and is particularly effective for immunohistochemistry (IHC) and immunocytochemistry (ICC). This antibody is a trusted choice for those looking to study HNF1A in detail. Additionally, we offer the recombinant antibody, Anti-HNF1 alpha antibody [EPR23054-142] (ab242140), which is validated for use in Western blotting (WB) and IHC. This recombinant product ensures batch-to-batch consistency, making it an excellent option for researchers who require reliable performance in their experiments.
Abcam Product Citation Summary
The data indicates that the Abcam antibody ab204306 has been utilised in studies focusing on HNF1A in the context of pancreatic cancer and acinar cell identity. Both studies employed Western blotting and immunohistochemistry techniques in mouse pancreas samples, highlighting the relevance of HNF1A in oncogenic pathways related to pancreatic health.
Abcam Product Citation Table
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:10966642, PubMed:12453420). Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity).
(Microbial infection) Plays a crucial role for hepatitis B virus gene transcription and DNA replication. Mechanistically, synergistically cooperates with NR5A2 to up-regulate the activity of one of the critical cis-elements in the hepatitis B virus genome enhancer II (ENII).
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.
Type 1 diabetes mellitus 20
T1D20
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.
Post-translational modifications
Ubiquitinated in s SPOP-dependent manner; leading to prteasomal degradation.
Sequence Similarities
Belongs to the HNF1 homeobox family.
Tissue Specificity
Liver.
Cellular localization
- Nucleus
Alternative names
TCF1, HNF1A, Hepatocyte nuclear factor 1-alpha, HNF-1-alpha, HNF-1A, Liver-specific transcription factor LF-B1, Transcription factor 1, LFB1, TCF-1