RECQL

From Wikipedia, the free encyclopedia

RecQ protein-like (DNA helicase Q1-like)

Identifiers

RECQL; RECQL1; RecQ1

External IDs

OMIM: 600537 MGI: 103021 HomoloGene: 56279

Gene ontology
Molecular Function:	• nucleotide binding • DNA binding • ATP-dependent DNA helicase activity • protein binding • ATP binding • hydrolase activity
Cellular Component:	• nucleus
Biological Process:	• DNA repair • DNA recombination

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002907 (mRNA)
NP_002898 (protein)

NM_023042 (mRNA)
NP_075529 (protein)

Location

Chr 12: 21.51 - 21.55 Mb

Chr 6: 142.31 - 142.34 Mb

Pubmed search

[1]

[2]

RecQ protein-like (DNA helicase Q1-like), also known as RECQL, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: RECQL RecQ protein-like (DNA helicase Q1-like).

[edit] Further reading

Seki M, Miyazawa H, Tada S, et al. (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. PMID 7527136.
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. PMID 7607686.
Puranam KL, Blackshear PJ (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.
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. PMID 8056767.
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. PMID 9168958.
Weinmann AS, Yan PS, Oberley MJ, et al. (2002). "Isolating human transcription factor targets by coupling chromatin immunoprecipitation and CpG island microarray analysis.". Genes Dev. 16 (2): 235–44. doi:10.1101/gad.943102. PMID 11799066.
Zhang AH, Xi X (2003). "Molecular cloning of a splicing variant of human RECQL helicase.". Biochem. Biophys. Res. Commun. 298 (5): 789–92. PMID 12419324.
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. PMID 12419808.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Cui S, Arosio D, Doherty KM, et al. (2004). "Analysis of the unwinding activity of the dimeric RECQ1 helicase in the presence of human replication protein A.". Nucleic Acids Res. 32 (7): 2158–70. doi:10.1093/nar/gkh540. PMID 15096578.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
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. PMID 15886194.
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. PMID 15899892.
LeRoy G, Carroll R, Kyin S, et al. (2005). "Identification of RecQL1 as a Holliday junction processing enzyme in human cell lines.". Nucleic Acids Res. 33 (19): 6251–7. doi:10.1093/nar/gki929. PMID 16260474.
Muzzolini L, Beuron F, Patwardhan A, et al. (2007). "Different quaternary structures of human RECQ1 are associated with its dual enzymatic activity.". PLoS Biol. 5 (2): e20. doi:10.1371/journal.pbio.0050020. PMID 17227144.
Xie J, Bessling SL, Cooper TK, et al. (2007). "Manipulating mitotic recombination in the zebrafish embryo through RecQ helicases.". Genetics 176 (2): 1339–42. doi:10.1534/genetics.107.072983. PMID 17483412.