HNF1A
HNF1A (Hepatocyte nuclear factor 1-alpha) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Renal cell carcinoma, Hepatocellular carcinoma, Skin cancer and 5 more.
Overview
Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Activates the transcription of CYP1A2, CYP2E1 and CYP3A11.
Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes affected pathway 0.38, literature 0.98, genetic association 0.86, somatic mutation 0.94, animal model 0.55). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Hepatocellular Carcinoma, Papillary Renal Cell Carcinoma.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · HNF1A (Hepatocyte nuclear factor 1-alpha) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Renal cell carcinoma, Hepatocellular carcinoma, Skin cancer and 5 more.
- 1 · What it is
HNF1A (Hepatocyte nuclear factor 1-alpha) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Renal cell carcinoma, Hepatocellular carcinoma, Skin cancer and 5 more.
- 2 · What goes wrong in cancer
Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.
- 3 · How drugs use it
No product in this corpus aims at HNF1A yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
External identifiers
Sources: HGNC HGNC:11621 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P20823 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000135100 (association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.55, hepatocellular carcinoma 0.53, renal cell carcinoma 0.66, ovarian cancer 0.56, melanoma 0.56, skin cancer 0.58 (GraphQL API, CC0)); IntOGen HNF1A (driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Activates the transcription of CYP1A2, CYP2E1 and CYP3A11. 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). Location: Nucleus (UniProt). Locus 12q24.31 (HGNC).
- Renal cell carcinoma: Open Targets association 0.66 with renal cell carcinoma (MONDO_0005086); IntOGen driver in 1 cohort (PRCC)
- Hepatocellular carcinoma: Open Targets association 0.53 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 3 cohorts (HCC)
- Skin cancer: Open Targets association 0.58 with skin cancer (MONDO_0002898)
- Ovarian cancer: Open Targets association 0.56 with ovarian cancer (MONDO_0008170)
- Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)
- Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier "cohort-driver" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"HNF1A" OR ABSTRACT:"HNF1A" OR TITLE:"HNF1 homeobox A" OR ABSTRACT:"HNF1 homeobox A" OR TITLE:"Hepatocyte nuclear factor 1-alpha" OR ABSTRACT:"Hepatocyte nuclear factor 1-alpha" OR TITLE:"HNF1" OR ABSTRACT:"HNF1" OR TITLE:"LFB1" OR ABSTRACT:"LFB1" OR TITLE:"HNF1α" OR ABSTRACT:"HNF1α") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about HNF1A, not a curated reading list.
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