RECQL4 (RecQ protein-like 4
2001-10-01 Alessandro Beghini, PhD AffiliationUniversity of Milan, Medical Faculty, Department of Biology, Genetics for Medical Sciences, via Viotti 5, 20133-Milan, Italy
DNA/RNA
Description
Spans 6,46 kb; 21 exons; helicase domain is encoded by exons from 8 to 14
Transcription
3,62 kb mRNA
Proteins
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
Disease
Autosomal recessive disorder associated with genomic instability, cancer predisposition and premature ageing.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10679384 | 2000 | RecQ family helicases: roles in cancer and aging. | Karow JK et al |
| 10552928 | 1999 | Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products. | Kitao S et al |
| 9878247 | 1998 | Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. | Kitao S et al |
| 10319867 | 1999 | Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. | Kitao S et al |
| 10678659 | 2000 | Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. | Lindor NM et al |
| 11257107 | 2001 | DNA 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
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38565932 | 2024 | RECQL4 is not critical for firing of human DNA replication origins. | 1 |
| 38874681 | 2024 | RecQ helicase expression in patients with telomeropathies. | 0 |
| 38565932 | 2024 | RECQL4 is not critical for firing of human DNA replication origins. | 1 |
| 38874681 | 2024 | RecQ helicase expression in patients with telomeropathies. | 0 |
| 37456212 | 2023 | A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report. | 0 |
| 37495109 | 2023 | Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy. | 1 |
| 37516854 | 2023 | TRIM58 functions as a tumor suppressor in colorectal cancer by promoting RECQL4 ubiquitination to inhibit the AKT signaling pathway. | 0 |
| 37875529 | 2023 | Recognition and coacervation of G-quadruplexes by a multifunctional disordered region in RECQ4 helicase. | 1 |
| 37456212 | 2023 | A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report. | 0 |
| 37495109 | 2023 | Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy. | 1 |
| 37516854 | 2023 | TRIM58 functions as a tumor suppressor in colorectal cancer by promoting RECQL4 ubiquitination to inhibit the AKT signaling pathway. | 0 |
| 37875529 | 2023 | Recognition and coacervation of G-quadruplexes by a multifunctional disordered region in RECQ4 helicase. | 1 |
| 34921745 | 2022 | UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair. | 6 |
| 35219053 | 2022 | Cancer risk among RECQL4 heterozygotes. | 4 |
| 34921745 | 2022 | UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair. | 6 |
Citation
Alessandro Beghini, PhD
RECQL4 (RecQ protein-like 4
Atlas Genet Cytogenet Oncol Haematol. 2001-10-01
Online version: http://atlasgeneticsoncology.org/gene/285/recql4
