InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MRE11A

Summary

InnateDB Protein

IDBP-68193.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MRE11A

Protein Name

MRE11 meiotic recombination 11 homolog A (S. cerevisiae)

Synonyms

ATLD; HNGS1; MRE11; MRE11B;

Species

Homo sapiens

Ensembl Protein

ENSP00000326094

InnateDB Gene

IDBG-68191 (MRE11A)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Nucleus {ECO:0000250}. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents. {ECO:0000250}.

Disease Associations

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. {ECO:0000269PubMed:10612394}. 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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 125 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	126 [view]
Protein-Protein	119 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	4 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000014	single-stranded DNA endodeoxyribonuclease activity
GO:0003677	DNA binding
GO:0003690	double-stranded DNA binding
GO:0004003	ATP-dependent DNA helicase activity
GO:0004518	nuclease activity
GO:0004519	endonuclease activity
GO:0004520	endodeoxyribonuclease activity
GO:0004527	exonuclease activity
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0008408	3'-5' exonuclease activity
GO:0016787	hydrolase activity
GO:0030145	manganese ion binding

Biological Process

GO:0000019	regulation of mitotic recombination
GO:0000723	telomere maintenance
GO:0000724	double-strand break repair via homologous recombination
GO:0000737	DNA catabolic process, endonucleolytic
GO:0006259	DNA metabolic process
GO:0006281	DNA repair
GO:0006284	base-excision repair
GO:0006289	nucleotide-excision repair
GO:0006302	double-strand break repair
GO:0006303	double-strand break repair via nonhomologous end joining
GO:0006310	DNA recombination
GO:0006974	cellular response to DNA damage stimulus
GO:0007004	telomere maintenance via telomerase
GO:0007062	sister chromatid cohesion
GO:0007131	reciprocal meiotic recombination
GO:0031573	intra-S DNA damage checkpoint
GO:0031954	positive regulation of protein autophosphorylation
GO:0032481	positive regulation of type I interferon production
GO:0032508	DNA duplex unwinding
GO:0032876	negative regulation of DNA endoreduplication
GO:0033674	positive regulation of kinase activity
GO:0045087	innate immune response
GO:0090305	nucleic acid phosphodiester bond hydrolysis

Cellular Component

GO:0000781	chromosome, telomeric region
GO:0000785	chromatin
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005829	cytosol
GO:0030870	Mre11 complex
GO:0035861	site of double-strand break

Protein Structure and Domains

PDB ID

InterPro

IPR003701 DNA repair protein Mre11
IPR004843 Calcineurin-like phosphoesterase domain, apaH type
IPR007281 Mre11, DNA-binding
IPR029052 Metallo-dependent phosphatase-like

PFAM

PF00149
PF04152

PRINTS

PIRSF

PIRSF000882

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P49959