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3.6.4.12 RecQ helicases family

Unless otherwise stated all data on this page refer to the human proteins. Gene information is provided for human (Hs), mouse (Mm) and rat (Rn).

Overview

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RecQ helicases use the energy from ATP hydrolysis to unwind DNA and/or RNA. There are 5 genes for RecQ helicases in the human genome: BLM, WRN, RECQ1, RECQ4, and RECQ5. The RecQ helicases play important roles in maintaining genome integrity during replication [21], participate in DNA repair pathways (especially homologous recombination) [5], and are involved in facilitating tolerance of microsatellite instability (e.g. in cancer cells) [2-3,9]. Defects in the genes for some of these enzymes have been linked with rare genetic diseases that are characterised by genomic instability and cancer predisposition. In cancers that carry genetic alterations that give rise to microsatellite instability and/or DNA repair defects inhibitors of BLM and WRN helicase functions are proposed as novel cancer therapeutic options that exploit the mechanism of synthetic lethality.

Enzymes

3260
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BLM RecQ like helicase Show summary »


Target Id 3260
Nomenclature BLM RecQ like helicase
Previous and unofficial names Bloom syndrome protein | Bloom syndrome RecQ like helicase | RECQL3
Genes BLM (Hs), Blm (Mm), Blm (Rn)
Ensembl ID ENSG00000197299 (Hs), ENSMUSG00000030528 (Mm), ENSRNOG00000011213 (Rn)
UniProtKB AC P54132 (Hs), O88198 (Mm)
Inhibitors
compound 9h [PMID: 32697083] pKd 6.1 [23]
compound 21 [PMID: 36459756] pIC50 6.1 [20], 5.6 [20]
ML216 pIC50 5.7 [18]
AO/854 pIC50 ~5.0 [11]
Allosteric modulators
compound 2 [PMID: 33647232] (Inhibition) pIC50 5.7 [4]
Comment The BLM gene encodes an enzyme with DNA helicase activity. The enzyme's functions support DNA replication, repair and recombination. Mutations in BLM which result in BLM deficiency are known to cause Bloom syndrome, a rare autosomal recessive genetic disorder that is characterised by genomic instability and physical manifestations such as short stature, skin photo-sensitivity and cancer predisposition [6,8].

WRN RecQ like helicase Show summary »

References

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How to cite this family page

Database page citation:

3.6.4.12 RecQ helicases family. Accessed on 30/05/2024. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/FamilyDisplayForward?familyId=1091.

Concise Guide to PHARMACOLOGY citation:

Alexander SPH, Fabbro D, Kelly E, Mathie AA, Peters JA, Veale EL, Armstrong JF, Faccenda E, Harding SD, Davies JA et al. (2023) The Concise Guide to PHARMACOLOGY 2023/24: Enzymes. Br J Pharmacol. 180 Suppl 2:S289-373.