BLM
BLM (RecQ-like DNA helicase BLM) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Colorectal cancer, Breast cancer and 4 more.
Overview
ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction. Participates in DNA replication and repair. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA.
Open Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes genetic literature 0.64, affected pathway 0.87, literature 0.97, genetic association 0.73, somatic mutation 0.97).
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · BLM (RecQ-like DNA helicase BLM) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Colorectal cancer, Breast cancer and 4 more.
- 1 · What it is
BLM (RecQ-like DNA helicase BLM) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Colorectal cancer, Breast cancer and 4 more.
- 2 · What goes wrong in cancer
ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction. Participates in DNA replication and repair.
- 3 · How drugs use it
No product in this corpus aims at BLM yet. Inhibitors are shaped to fit the enzyme's active site so the reaction the cancer relies on stops.
External identifiers
Sources: HGNC HGNC:1058 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P54132 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000197299 (association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: colorectal cancer 0.62, ovarian cancer 0.58, endometrial cancer 0.53, non-Hodgkin lymphoma 0.51, skin cancer 0.54, breast cancer 0.61 (GraphQL API, CC0))
Biology
ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction. Participates in DNA replication and repair. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution. Binds single-stranded DNA (ssDNA), forked duplex DNA and Holliday junction DNA. Unwinds G-quadruplex DNA; unwinding occurs in the 3'-5' direction and requires a 3' single-stranded end of at least 7 nucleotides. Location: Nucleus (UniProt). Locus 15q26.1 (HGNC).
- Leukaemia: Open Targets association 0.63 with leukaemia (MONDO_0005059)
- Colorectal cancer: Open Targets association 0.62 with colorectal cancer (MONDO_0005575)
- Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)
- Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)
- Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)
- Endometrial cancer: Open Targets association 0.53 with endometrial cancer (MONDO_0011962)
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: UniProt keyword "DNA repair". Evidence tier "association-only" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"BLM" OR ABSTRACT:"BLM" OR TITLE:"BLM RecQ like helicase" OR ABSTRACT:"BLM RecQ like helicase" OR TITLE:"RecQ-like DNA helicase BLM" OR ABSTRACT:"RecQ-like DNA helicase BLM" OR TITLE:"RECQL3" OR ABSTRACT:"RECQL3" OR TITLE:"RECQ2" OR ABSTRACT:"RECQ2") 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 BLM, not a curated reading list.
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