Loading
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.
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.
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.
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.
Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini.
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.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA POT1: RNA low tissue specificity; no normal tissue stained high. Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Lung cancer (all types), Skin cancer (all types), Sarcomas (soft tissue, bone, GIST), Breast cancer (all types)); Open Targets associates it with 4 specific cancer types at or above 0.5 (tumor predisposition syndrome 3, B-cell chronic lymphocytic leukemia, familial melanoma, hereditary neoplastic syndrome). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q9NUX5; CIViC gene POT1; IntOGen POT1; Human Protein Atlas POT1 tissue; Open Targets ENSG00000128513 associations
First described 2001. Earliest sequence paper UniProt cites for the protein: Baumann et al, Science, 2001, "Pot1, the putative telomere end-binding protein in fission yeast and humans". Source.
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)
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).
RNA: low tissue specificity, detected in all normal tissues.
No normal tissue stained high.
No cancer sample stained medium or high.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query 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.
Shares Leukaemia (all types), Skin cancer (all types), IntOGen, Lung cancer (all types).
Shares Leukaemia (all types), Chronic lymphocytic leukaemia, Skin cancer (all types), CIViC.
Shares Leukaemia (all types), Skin cancer (all types), CIViC, IntOGen.
Shares Leukaemia (all types), Skin cancer (all types), CIViC, IntOGen.
Shares Leukaemia (all types), Chronic lymphocytic leukaemia, Skin cancer (all types), IntOGen.
Shares Leukaemia (all types), Skin cancer (all types), CIViC, IntOGen.
Shares Leukaemia (all types), Skin cancer (all types), Sarcomas (soft tissue, bone, GIST), IntOGen.
Shares Leukaemia (all types), Skin cancer (all types), IntOGen, Breast cancer (all types).