RECQL RecQ protein-like (DNA helicase Q1-like)
2003-01-01 Mounira Amor-Guéret AffiliationInstitut Curie - Section de Recherche, UMR 2027 CNRS, Bâtiment 110, Centre Universitaire, F-91405 Orsay Cedex, France
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.
Proteins
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.
Implicated in
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12419808 | 2003 | Characterization of the DNA-unwinding activity of human RECQ1, a helicase specifically stimulated by human replication protein A. | Cui S et al |
| 7607686 | 1995 | Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue. | Puranam KL et al |
| 7527136 | 1994 | 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 et al |
| 12419324 | 2002 | Molecular cloning of a splicing variant of human RECQL helicase. | Zhang AH et al |
Other Information
Locus ID:
NCBI: 5965
MIM: 600537
HGNC: 9948
Ensembl: ENSG00000004700
Variants:
dbSNP: 5965
ClinVar: 5965
TCGA: ENSG00000004700
COSMIC: RECQL
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38874681 | 2024 | RecQ helicase expression in patients with telomeropathies. | 0 |
| 38874681 | 2024 | RecQ helicase expression in patients with telomeropathies. | 0 |
| 35025765 | 2022 | RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1. | 19 |
| 35231585 | 2022 | Genome-wide investigations on regulatory functions of RECQ1 helicase. | 1 |
| 35025765 | 2022 | RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1. | 19 |
| 35231585 | 2022 | Genome-wide investigations on regulatory functions of RECQ1 helicase. | 1 |
| 33468559 | 2021 | Genome-Wide Analysis Unveils DNA Helicase RECQ1 as a Regulator of Estrogen Response Pathway in Breast Cancer Cells. | 8 |
| 34751402 | 2021 | Residues at the interface between zinc binding and winged helix domains of human RECQ1 play a significant role in DNA strand annealing activity. | 2 |
| 33468559 | 2021 | Genome-Wide Analysis Unveils DNA Helicase RECQ1 as a Regulator of Estrogen Response Pathway in Breast Cancer Cells. | 8 |
| 34751402 | 2021 | Residues at the interface between zinc binding and winged helix domains of human RECQ1 play a significant role in DNA strand annealing activity. | 2 |
| 32517021 | 2020 | RECQ1 Helicase in Genomic Stability and Cancer. | 13 |
| 32820027 | 2020 | The RECQL helicase prevents replication fork collapse during replication stress. | 3 |
| 32517021 | 2020 | RECQ1 Helicase in Genomic Stability and Cancer. | 13 |
| 32820027 | 2020 | The RECQL helicase prevents replication fork collapse during replication stress. | 3 |
| 30610487 | 2019 | Clinical implications of germline mutations in breast cancer genes: RECQL. | 8 |
Citation
Mounira Amor-Guéret
RECQL RecQ protein-like (DNA helicase Q1-like)
Atlas Genet Cytogenet Oncol Haematol. 2003-01-01
Online version: http://atlasgeneticsoncology.org/gene/283/recql-recq-protein-like-(dna-helicase-q1-like)
