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
RECQL
LOCATION
12p12.1
LOCUSID
5965
ALIAS
RECQL1,RecQ1
FUSION GENES
Show Gene Fusions

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 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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
388746812024RecQ helicase expression in patients with telomeropathies.0
388746812024RecQ helicase expression in patients with telomeropathies.0
350257652022RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.19
352315852022Genome-wide investigations on regulatory functions of RECQ1 helicase.1
350257652022RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.19
352315852022Genome-wide investigations on regulatory functions of RECQ1 helicase.1
334685592021Genome-Wide Analysis Unveils DNA Helicase RECQ1 as a Regulator of Estrogen Response Pathway in Breast Cancer Cells.8
347514022021Residues at the interface between zinc binding and winged helix domains of human RECQ1 play a significant role in DNA strand annealing activity.2
334685592021Genome-Wide Analysis Unveils DNA Helicase RECQ1 as a Regulator of Estrogen Response Pathway in Breast Cancer Cells.8
347514022021Residues at the interface between zinc binding and winged helix domains of human RECQ1 play a significant role in DNA strand annealing activity.2
325170212020RECQ1 Helicase in Genomic Stability and Cancer.13
328200272020The RECQL helicase prevents replication fork collapse during replication stress.3
325170212020RECQ1 Helicase in Genomic Stability and Cancer.13
328200272020The RECQL helicase prevents replication fork collapse during replication stress.3
306104872019Clinical 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)