RBCC Red Blood Cell Collection

MRE11_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: MRE11A , HNGS1, MRE11
Protein names and data: MRE11_HUMAN , Double-strand break repair protein MRE11A , Meiotic recombination 11 homolog 1; MRE11 homolog 1; Meiotic recombination 11 homolog A; MRE11 homolog A Lenght: 708 a.a.
Mass: 80593 Da
fasta formatted sequence
Function: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11A to prevent nucleolytic degradation past a given point. The complex may also be required for DNA damage signaling via activation of the ATM kinase. In telomeres the MRN complex may modulate t-loop formation.
Disease: ( OMIM: 600814 604391 ) Ataxia-telangiectasia-like disorder (ATLD) [MIM:604391]: A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=Defects in MRE11A can be a cause of nephronophthisis-related ciliopathies (NPHP-RC), a group of recessive diseases that affect kidney, retina and brain. A homozygous truncating mutation MRE11A has been found in patients with cerebellar vermis hypoplasia, ataxia and dysarthria.
Cellular location: Nucleus (By similarity). Note=Localizes to discrete nuclear foci after treatment with genotoxic agents (By similarity).

Genetic variants

104 - 104 S -> C (in cancer). VAR_011625
117 - 117 N -> S (in ATLD). VAR_008513
157 - 157 M -> V (in dbSNP:rs147771140). VAR_011626 147771140
237 - 237 F -> C (in a breast cancer sample; somatic mutation). VAR_036416
302 - 302 H -> Y (in a breast cancer sample; somatic mutation). VAR_036417
305 - 305 R -> W (in ovarian cancer). VAR_025528
468 - 468 D -> G (in dbSNP:rs1805367). VAR_019288 1805367
503 - 503 R -> H (in cancer). VAR_011627
572 - 572 R -> Q (in cancer; dbSNP:rs200085146). VAR_011628 200085146
698 - 698 M -> V (in dbSNP:rs1805362). VAR_019289 1805362

Database cross-references

UniProt: P49959
Ensembl: ENST00000323929
Ensembl: ENST00000323977
MIM: 600814
MIM: 604391
neXtProt: NX_P49959
Antibodypedia: P49959 (may not find the protein thus also not any antibody)
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