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double-strand break repair protein MRE11A; meiotic recombination 11 homolog A; MRE11 homolog A; meiotic recombination 11 homolog 1; MRE11 homolog 1 (MRE11A, HNGS1, MRE11)
Function:
- component of the MRN complex, thus role in DND double-strand break repair
- nuclease activity
- phosphorylated upon DNA damage, probably by ATM or ATR
- component of the BASC complex
- interacts with DCLRE1C/Artemis
Cofactor: Mn+2 (putative)
Structure: belongs to the MRE11/RAD32 family
Compartment:
- nucleus (putative)
- localizes to discrete nuclear foci after treatment with genotoxic agents
Alternative splicing: named isoforms=2
Pathology:
- defects in MRE11A are a cause of ataxia telangiectasia-like disorder
- defects in MRE11A may be a cause of breast cancer
Notes:
- in case of infection by adenovirus E4, the MRN complex is inactivated & degraded by viral oncoproteins
General
hydrolase
nuclear protein
phosphoprotein
Properties
SIZE: entity length = 708 aa
MW = 81 kD
COMPARTMENT: cell nucleus
MOTIF: Thr phosphorylation site {T74}
histidine residue {H129}
Ser phosphorylation site {S649}
Ser phosphorylation site {S678}
Ser phosphorylation site {S688}
Ser phosphorylation site {S689}
References
- UniProt :accession P49959
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/MRE11ID247.html
- MRE11base; Note: MRE11A mutation db
http://bioinf.uta.fi/MRE11Abase/
- NIEHS-SNPs
http://egp.gs.washington.edu/data/mre11a/
Component-of
MRN complex
Databases & Figures
OMIM correlations
UniProt P49959
PFAM correlations
Entrez Gene 4361
Kegg hsa:4361
Figures/diagrams/slides/tables related to double-strand break repair protein MRE11A