RECQL

RECQL
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2V1X, 2WWY, 4U7D
Identifiers
Aliases	RECQL , RECQL1, RecQ1, RecQ like helicase
External IDs	OMIM: 600537 MGI: 103021 HomoloGene: 56279 GeneCards: RECQL
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12p12.1 Start 21,468,910 bp [1] End 21,501,669 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6 G2|6 73.91 cM Start 142,296,068 bp [2] End 142,332,813 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia Achilles tendon parietal pleura visceral pleura superficial temporal artery synovial joint cavity of mouth hair follicle synovial membrane spongy bone Top expressed in spermatid spermatocyte Paneth cell barrel cortex thymus otic placode primitive streak yolk sac substantia nigra hair follicle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATP-dependent DNA/DNA annealing activity nucleotide binding DNA helicase activity protein binding hydrolase activity ATP binding helicase activity nucleic acid binding DNA binding 3'-5' DNA helicase activity four-way junction helicase activity Cellular component membrane nucleoplasm chromosome cytoplasm nucleus Biological process DNA recombination DNA repair double-strand break repair via homologous recombination DNA duplex unwinding DNA unwinding involved in DNA replication Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5965 19691 Ensembl ENSG00000004700 ENSMUSG00000030243 UniProt P46063 Q9Z129 RefSeq (mRNA) NM_002907 NM_032941 NM_001204906 NM_001204907 NM_023042 NM_001355511 RefSeq (protein) NP_002898 NP_116559 NP_001191835 NP_001191836 NP_075529 NP_001342440 Location (UCSC) Chr 12: 21.47 – 21.5 Mb Chr 6: 142.3 – 142.33 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ATP-dependent DNA helicase Q1 is an enzyme that in humans is encoded by the RECQL gene. ^{[5] [6] [7]}

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. ^[7]

Interactions

RECQL has been shown to interact with KPNA4 ^[8] and Karyopherin alpha 2. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000004700 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030243 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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. doi: 10.1016/S0021-9258(18)43957-9 . PMID   7961977.
7. "Entrez Gene: RECQL RecQ protein-like (DNA helicase Q1-like)".
8. 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

• 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. PMID   7607686.
• 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. doi:10.1093/oxfordjournals.jbchem.a124369. 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. PMC   155318 . 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. doi:10.1016/S0006-291X(02)02542-1. 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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. PMC   407823 . 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. PMC   528928 . 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. PMC   1275589 . 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 . PMC   1769423 . 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. PMC   1894594 . PMID   17483412.