InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAD50

Summary

InnateDB Protein

IDBP-42353.7

Last Modified

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

Gene Symbol

RAD50

Protein Name

RAD50 homolog (S. cerevisiae)

Synonyms

hRad50; NBSLD; RAD502;

Species

Homo sapiens

Ensembl Protein

ENSP00000368100

InnateDB Gene

IDBG-42351 (RAD50)

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. {ECO:0000269PubMed:10888888, ECO:0000269PubMed:11741547, ECO:0000269PubMed:15064416, ECO:0000269PubMed:9590181, ECO:0000269PubMed:9651580, ECO:0000269PubMed:9705271}.

Subcellular Localization

Nucleus. Chromosome, telomere. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents.

Disease Associations

Nijmegen breakage syndrome-like disorder (NBSLD) [MIM:613078]: A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent. {ECO:0000269PubMed:19409520}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts. {ECO:0000269PubMed:8756642}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 110 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	111 [view]
Protein-Protein	105 [view]
Protein-DNA	6 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000014	single-stranded DNA endodeoxyribonuclease activity
GO:0003677	DNA binding
GO:0004003	ATP-dependent DNA helicase activity
GO:0004518	nuclease activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008270	zinc ion binding
GO:0008408	3'-5' exonuclease activity
GO:0030674	protein binding, bridging

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:0006281	DNA repair
GO:0006302	double-strand break repair
GO:0006310	DNA recombination
GO:0006974	cellular response to DNA damage stimulus
GO:0007004	telomere maintenance via telomerase
GO:0007131	reciprocal meiotic recombination
GO:0031954	positive regulation of protein autophosphorylation
GO:0032508	DNA duplex unwinding
GO:0033674	positive regulation of kinase activity
GO:0090305	nucleic acid phosphodiester bond hydrolysis

Cellular Component

GO:0000784	nuclear chromosome, telomeric region
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0016020	membrane
GO:0030870	Mre11 complex
GO:0035861	site of double-strand break
GO:0045120	pronucleus

Protein Structure and Domains

PDB ID

InterPro

IPR004584 DNA repair protein Rad50, eukaryotes
IPR007517 Rad50 zinc hook
IPR009053 Prefoldin
IPR013134 Zinc hook, Rad50
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF04423

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q92878

PhosphoSite