RECQL

RecQ helicase-like

Rendering based on PDB 2V1X.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsRECQL ; RECQL1; RecQ1
External IDsOMIM: 600537 MGI: 103021 HomoloGene: 56279 ChEMBL: 1293236 GeneCards: RECQL Gene
EC number3.6.4.12
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez596519691
EnsemblENSG00000004700ENSMUSG00000030243
UniProtP46063Q9Z129
RefSeq (mRNA)NM_002907NM_001204906
RefSeq (protein)NP_002898NP_001191835
Location (UCSC)Chr 12:
21.62 – 21.65 Mb
Chr 6:
142.35 – 142.39 Mb
PubMed search

ATP-dependent DNA helicase Q1 is an enzyme that in humans is encoded by the RECQL gene.[1][2][3]

The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described.[3]

Interactions

RECQL has been shown to interact with KPNA4[4] and Karyopherin alpha 2.[4]

References

  1. Seki M, Miyazawa H, Tada S, Yanagisawa J, Yamaoka T, Hoshino S, Ozawa K, Eki T, Nogami M, Okumura K et al. (January 1995). "Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12". Nucleic Acids Res 22 (22): 4566–73. doi:10.1093/nar/22.22.4566. PMC 308502. PMID 7527136.
  2. Puranam KL, Blackshear PJ (December 1994). "Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ". J Biol Chem 269 (47): 29838–45. PMID 7961977.
  3. 3.0 3.1 "Entrez Gene: RECQL RecQ protein-like (DNA helicase Q1-like)".
  4. 4.0 4.1 Seki, T; Tada S; Katada T; Enomoto T (May 1997). "Cloning of a cDNA encoding a novel importin-alpha homologue, Qip1: discrimination of Qip1 and Rch1 from hSrp1 by their ability to interact with DNA helicase Q1/RecQL". Biochem. Biophys. Res. Commun. (UNITED STATES) 234 (1): 48–53. doi:10.1006/bbrc.1997.6535. ISSN 0006-291X. PMID 9168958.

Further reading