| Identity |
| HGNC (Hugo) | RECQL |
| Location | 12p12-p11 |
| Location_base_pair | Starts at 21513112 and ends at 21545870 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| DNA/RNA |
| Transcription | Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described. Coding region: 1977 bp. Three RNA bands of 4.0, 3.3 and 2.2 kb were detected in HeLa cells by Northern blotting. |
| Protein |
| Description | 659 amino acids; contains one ATP binding site and one DexH box. Two other putative isoforms resulting from an alternative mRNA splicing may exist. |
| Localisation | Nuclear |
| Function | 3'-5' DNA helicase. Replication Protein A stimulates its helicase activity. |
| Homology | Homologous to RecQ helicases, a subfamily of DExH box-containing DNA and RNA helicases. In particular, similarities with the four known human members in the RecQ subfamily, human RecQL4, human RecQL5, human BLM, the product of the Bloom syndrome gene and human WRN, the product of the Werner syndrome gene. |
| Mutations |
| Note | Not described, and correlation with genetic disorder, if any, is (yet) unknown. |
| External links |
| Bibliography |
| Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. |
| Puranam KL, Blackshear PJ |
| The Journal of biological chemistry. 1994 ; 269 (47) : 29838-29845. |
| PMID 7961977 |
| 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. |
| Seki M, Miyazawa H, Tada S, Yanagisawa J, Yamaoka T, Hoshino S, Ozawa K, Eki T, Nogami M, Okumura K |
| Nucleic acids research. 1994 ; 22 (22) : 4566-4573. |
| PMID 7527136 |
| Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue. |
| Puranam KL, Kennington E, Sait SN, Shows TB, Rochelle JM, Seldin MF, Blackshear PJ |
| Genomics. 1995 ; 26 (3) : 595-598. |
| PMID 7607686 |
| Molecular cloning of a splicing variant of human RECQL helicase. |
| Zhang AH, Xi X |
| Biochemical and biophysical research communications. 2002 ; 298 (5) : 789-792. |
| PMID 12419324 |
| Characterization of the DNA-unwinding activity of human RECQ1, a helicase specifically stimulated by human replication protein A. |
| Cui S, Klima R, Ochem A, Arosio D, Falaschi A, Vindigni A |
| The Journal of biological chemistry. 2003 ; 278 (3) : 1424-1432. |
| PMID 12419808 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 01-2003 | Mounira Amor-Guéret |
| Citation |
| This paper should be referenced as such : |
| Amor-Guéret M . RECQL RecQ protein-like (DNA helicase Q1-like). Atlas Genet Cytogenet Oncol Haematol. January 2003 . URL : http://AtlasGeneticsOncology.org/Genes/RECQLID283.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 27 10:48:16 CET 2010 |
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