Werner's syndrome helicase WRN

Function

Multifunctional enzyme that has both magnesium and ATP-dependent DNA-helicase activity and 3'->5' exonuclease activity towards double-stranded DNA with a 5'-overhang. Has no nuclease activity towards single-stranded DNA or blunt-ended double-stranded DNA. Binds preferentially to DNA substrates containing alternate secondary structures, such as replication forks and Holliday junctions. May play an important role in the dissociation of joint DNA molecules that can arise as products of homologous recombination, at stalled replication forks or during DNA repair. Alleviates stalling of DNA polymerases at the site of DNA lesions. Important for genomic integrity. Plays a role in the formation of DNA replication focal centers; stably associates with foci elements generating binding sites for RP-A (By similarity). Plays a role in double-strand break repair after gamma-irradiation.

Involvement in disease

Werner syndrome

WRN

A rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction.

None

The disease is caused by variants affecting the gene represented in this entry.

Colorectal cancer

CRC

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

None

The disease may be caused by variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylated by PRKDC.

Sequence similarities

Belongs to the helicase family. RecQ subfamily.

Cellular localization

• Nucleus
• Nucleolus
• Nucleus
• Nucleus
• Nucleoplasm
• Gamma-irradiation leads to its translocation from nucleoli to nucleoplasm and PML regulates the irradiation-induced WRN relocation.

Alternative names

• Werner syndrome ATP-dependent helicase
• Exonuclease WRN
• RecQ protein-like 2
• RecQ3
• WRN
• RECQ3
• RECQL2

Database links

• entrezGene:7486
• omim:604611
• swissprot:Q14191

Target type

Proteins

Primary research area

Oncology

Other research areas

• Epigenetics

Molecular weight

162461Da