RECQL4 (RecQ protein-like 4

2001-10-01   Alessandro Beghini 

University of Milan, Medical Faculty, Department of Biology, Genetics for Medical Sciences, via Viotti 5, 20133-Milan, Italy

Identity

HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
RECQ4

DNA/RNA

Atlas Image

Description

Spans 6,46 kb; 21 exons; helicase domain is encoded by exons from 8 to 14

Transcription

3,62 kb mRNA

Proteins

Atlas Image

Description

1208 aa; 13,3 kDa; belongs to the RecQ subfamily of helicases and contains from aa 476 to 824 an helicase domain with a potential ATP binding site from aa 502 to 509, and the DEAH box from aa 605 to 608

Expression

The RecQ4 gene is predominantly expressed in thymus and testis and at low levels in other organs such as heart, brain, placenta, pancreas, small intestine, and colon, indicating that the expression of RecQ4 gene is somewhat tissue-specific. The overall expression profile resembles that of the BLM gene. Interestingly, the expression of RecQ4 gene is partially upregulated in the G1/S phase of cell cycle.

Localisation

nuclear

Function

suppresses promiscuous genetic recombination and ensures accurate chromosome segregation.

Homology

WRN/RECQ3, BLM/RECQ2

Mutations

Germinal

See diagram of loss-of-function mutations in Rothmund-Thomson Syndrome patients

Implicated in

Entity name
Rothmund-Thomson Syndrome
Disease
Autosomal recessive disorder associated with genomic instability, cancer predisposition and premature ageing.

Bibliography

Pubmed IDLast YearTitleAuthors
106793842000RecQ family helicases: roles in cancer and aging.Karow JK et al
105529281999Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.Kitao S et al
98782471998Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes.Kitao S et al
103198671999Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.Kitao S et al
106786592000Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.Lindor NM et al
112571072001DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders.Mohaghegh P et al

Other Information

Locus ID:

NCBI: 9401
MIM: 603780
HGNC: 9949
Ensembl: ENSG00000160957

Variants:

dbSNP: 9401
ClinVar: 9401
TCGA: ENSG00000160957
COSMIC: RECQL4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160957ENST00000301323V9GY60
ENSG00000160957ENST00000524998V9GYB6
ENSG00000160957ENST00000531875A0A087WTJ0
ENSG00000160957ENST00000532846V9GYA3
ENSG00000160957ENST00000534538V9GY28
ENSG00000160957ENST00000534626V9GZ64
ENSG00000160957ENST00000617875O94761
ENSG00000160957ENST00000621189A0A087X072

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
159609762005Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome.115
198052162009Assembly of the Cdc45-Mcm2-7-GINS complex in human cells requires the Ctf4/And-1, RecQL4, and Mcm10 proteins.88
200650332010Human RECQ1 and RECQ4 helicases play distinct roles in DNA replication initiation.69
162144242006Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome.68
187166132009The mutation spectrum in RECQL4 diseases.67
196967452009MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication.65
191771492009Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4.62
159648932006Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.57
161412302005The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability.47
223579442012RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress.44

Citation

Alessandro Beghini

RECQL4 (RecQ protein-like 4

Atlas Genet Cytogenet Oncol Haematol. 2001-10-01

Online version: http://atlasgeneticsoncology.org/gene/285/recql4