ATP-dependent DNA helicase Q1 is an enzyme that in humans is encoded by the RECQLgene.
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.
^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. PMID7961977.
^ abSeki, 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. ISSN0006-291X. PMID9168958.
Puranam KL, Kennington E, Sait SN, et al. (1995). "Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue". Genomics. 26 (3): 595–8. doi:10.1016/0888-7543(95)80181-K. PMID7607686.
Seki M, Yanagisawa J, Kohda T, et al. (1994). "Purification of two DNA-dependent adenosinetriphosphatases having DNA helicase activity from HeLa cells and comparison of the properties of the two enzymes". J. Biochem. 115 (3): 523–31. PMID8056767.
Seki T, Tada S, Katada T, Enomoto T (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. 234 (1): 48–53. doi:10.1006/bbrc.1997.6535. PMID9168958.
Cui S, Klima R, Ochem A, et al. (2003). "Characterization of the DNA-unwinding activity of human RECQ1, a helicase specifically stimulated by human replication protein A". J. Biol. Chem. 278 (3): 1424–32. doi:10.1074/jbc.M209407200. PMID12419808.
Doherty KM, Sharma S, Uzdilla LA, et al. (2005). "RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination". J. Biol. Chem. 280 (30): 28085–94. doi:10.1074/jbc.M500265200. PMID15886194.
Sharma S, Sommers JA, Choudhary S, et al. (2005). "Biochemical analysis of the DNA unwinding and strand annealing activities catalyzed by human RECQ1". J. Biol. Chem. 280 (30): 28072–84. doi:10.1074/jbc.M500264200. PMID15899892.