POT1
POT1 (Protection of telomeres protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma, Lung cancer and 5 more.
Overview
Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus.
CIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.61, literature 0.89, genetic association 0.70, somatic mutation 0.87, animal model 0.27). IntOGen calls it a driver in 9 cohorts (5 activating, 4 loss-of-function), covering Angiosarcoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Low-Grade Glioma, NOS, Melanoma, Soft Tissue.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · POT1 (Protection of telomeres protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma, Lung cancer and 5 more.
- 1 · What it is
POT1 (Protection of telomeres protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma, Lung cancer and 5 more.
- 2 · What goes wrong in cancer
Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini.
- 3 · How drugs use it
No product in this corpus aims at POT1 yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
External identifiers
Sources: HGNC HGNC:17284 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9NUX5 (protein name, function text, keywords and locations (REST API)); CIViC gene POT1 (1 evidence items, 0 assertions, 1 variants; diseases: Chronic Lymphocytic Leukaemia (GraphQL API, CC0)); Open Targets ENSG00000128513 (association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: melanoma 0.71, acute lymphoblastic leukaemia 0.64, B-cell chronic lymphocytic leukaemia 0.62, non-Hodgkin lymphoma 0.68, skin cancer 0.59, breast cancer 0.51 (GraphQL API, CC0)); IntOGen POT1 (driver in 9 cohorts (Act 5, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Location: Nucleus; Chromosome, telomere (UniProt). Locus 7q31.33 (HGNC).
- Leukaemia: Open Targets association 0.70 with leukaemia (MONDO_0005059)
- Non-Hodgkin lymphoma: Open Targets association 0.68 with non-Hodgkin lymphoma (MONDO_0018908)
- Lung cancer: Open Targets association 0.62 with lung cancer (MONDO_0008903)
- Skin cancer: Open Targets association 0.59 with skin cancer (MONDO_0002898)
- Sarcomas: IntOGen driver in 1 cohort (SOFT_TISSUE)
- Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)
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 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
- Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS.
Latest papers
topQuery for this target: (TITLE:"POT1" OR ABSTRACT:"POT1" OR TITLE:"protection of telomeres 1" OR ABSTRACT:"protection of telomeres 1" OR TITLE:"Protection of telomeres protein 1" OR ABSTRACT:"Protection of telomeres protein 1" OR TITLE:"hPot1" OR ABSTRACT:"hPot1" OR TITLE:"DKFZp586D211" OR ABSTRACT:"DKFZp586D211") 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 POT1, not a curated reading list.
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