RECQL

RecQ protein-like (DNA helicase Q1-like)

Rendering based on PDB 2V1X.
Identifiers
Symbols RECQL; RECQL1; RecQ1
External IDs OMIM600537 MGI103021 HomoloGene56279 GeneCards: RECQL Gene
EC number 3.6.4.12
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 5965 19691
Ensembl ENSG00000004700 ENSMUSG00000030243
UniProt P46063 Q3TPI5
RefSeq (mRNA) NM_002907.3 NM_023042
RefSeq (protein) NP_002898.2 NP_075529
Location (UCSC) Chr 12:
21.62 – 21.65 Mb
Chr 6:
142.3 – 142.34 Mb
PubMed search [1] [2]

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. (Jan 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=308502. 
  2. ^ Puranam KL, Blackshear PJ (Dec 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. ^ a b "Entrez Gene: RECQL RecQ protein-like (DNA helicase Q1-like)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5965. 
  4. ^ a b 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