RECQL RecQ protein-like (DNA helicase Q1-like)

2003-01-01   Mounira Amor-Guéret 

Institut Curie - Section de Recherche, UMR 2027 CNRS, Bâtiment 110, Centre Universitaire, F-91405 Orsay Cedex, France

Identity

HGNC
LOCATION
12p12.1
LOCUSID
ALIAS
RECQL1,RecQ1
FUSION GENES

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

Bibliography

Pubmed IDLast YearTitleAuthors
124198082003Characterization of the DNA-unwinding activity of human RECQ1, a helicase specifically stimulated by human replication protein A.Cui S et al
76076861995Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue.Puranam KL et al
75271361994Molecular 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
124193242002Molecular 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

Gene IDTranscript IDUniprot
ENSG00000004700ENST00000314748F8WA66
ENSG00000004700ENST00000396093F8WD97
ENSG00000004700ENST00000421138P46063
ENSG00000004700ENST00000421138A0A024RAV2
ENSG00000004700ENST00000444129P46063
ENSG00000004700ENST00000444129A0A024RAV2
ENSG00000004700ENST00000536240F5H3W0
ENSG00000004700ENST00000536964F5H4P4
ENSG00000004700ENST00000539672F5GYB7
ENSG00000004700ENST00000542432F5H2L2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
233963532013Human RECQ1 promotes restart of replication forks reversed by DNA topoisomerase I inhibition.129
158998922005Biochemical analysis of the DNA unwinding and strand annealing activities catalyzed by human RECQ1.88
184484292008The Human RecQ helicases, BLM and RECQ1, display distinct DNA substrate specificities.74
200650332010Human RECQ1 and RECQ4 helicases play distinct roles in DNA replication initiation.69
191511562009Structure of the human RECQ1 helicase reveals a putative strand-separation pin.67
150965782004Analysis of the unwinding activity of the dimeric RECQ1 helicase in the presence of human replication protein A.59
165204632006Single nucleotide polymorphisms of RecQ1, RAD54L, and ATM genes are associated with reduced survival of pancreatic cancer.57
259155962015Germline RECQL mutations are associated with breast cancer susceptibility.57
180740212007Human RECQ1 is a DNA damage responsive protein required for genotoxic stress resistance and suppression of sister chromatid exchanges.53
184956622008RECQ1 possesses DNA branch migration activity.45

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