RECQL4 (RecQ protein-like 4

2001-10-01   Alessandro Beghini, PhD 

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

Identity

HGNC
RECQL4
LOCATION
8q24.3
LOCUSID
9401
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.

Article 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
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
385659322024RECQL4 is not critical for firing of human DNA replication origins.1
388746812024RecQ helicase expression in patients with telomeropathies.0
385659322024RECQL4 is not critical for firing of human DNA replication origins.1
388746812024RecQ helicase expression in patients with telomeropathies.0
374562122023A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report.0
374951092023Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.1
375168542023TRIM58 functions as a tumor suppressor in colorectal cancer by promoting RECQL4 ubiquitination to inhibit the AKT signaling pathway.0
378755292023Recognition and coacervation of G-quadruplexes by a multifunctional disordered region in RECQ4 helicase.1
374562122023A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report.0
374951092023Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.1
375168542023TRIM58 functions as a tumor suppressor in colorectal cancer by promoting RECQL4 ubiquitination to inhibit the AKT signaling pathway.0
378755292023Recognition and coacervation of G-quadruplexes by a multifunctional disordered region in RECQ4 helicase.1
349217452022UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair.6
352190532022Cancer risk among RECQL4 heterozygotes.4
349217452022UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair.6

Citation

Alessandro Beghini

RECQL4 (RecQ protein-like 4

Atlas Genet Cytogenet Oncol Haematol. 2001-10-01

Online version: http://atlasgeneticsoncology.org/gene/285/teaching-explorer/js/case-report-explorer/