RAD50 / TRP channels
Name: DNA repair protein RAD50
(RAD50)
Official Symbol: RAD50
provided by HGNC
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.
Source: Reorganizing the protein space at the Universal Protein Resource (UniProt)
Nucleic Acids Res. 40: D71-D75 (2012).
Species | External DB | |||||||||
---|---|---|---|---|---|---|---|---|---|---|
Entrez Gene | UniprotKB | DIP | IntAct | MINT | BioGRID | STRING | IUPHAR-DB | KEGG | OMIM | |
Human
|
10111 | Q92878 | DIP-33606N | Q92878 | MINT-100363 | 115417 | Q92878 | hsa:10111 | 604040 | |
Mouse
|
19360 | P70388 | DIP-46805N | P70388 | MINT-4131642 | 202563 | P70388 | mmu:19360 | ||
Rat
|
64012 | Q9JIL8 | MINT-4618007 | 248931 | Q9JIL8 | rno:64012 |
PPI pairs:
Biological Process:
- GO:0032508 : DNA duplex unwinding
- GO:0000724 : double-strand break repair via homologous recombination
- GO:0090305 : nucleic acid phosphodiester bond hydrolysis
- GO:0033674 : positive regulation of kinase activity
- GO:0031954 : positive regulation of protein autophosphorylation
- GO:0007131 : reciprocal meiotic recombination
- GO:0000019 : regulation of mitotic recombination
- GO:0007004 : telomere maintenance via telomerase
Source: The Gene Ontology Consortium. Gene ontology: tool for the unification of biology. Nat. Genet.. May 2000;25(1):25-9.
World Wide Web URL: http://www.geneontology.org/
World Wide Web URL: http://www.geneontology.org/
Disease:
- OMIM:604040 : Nijmegen breakage syndrome-like disorder (OMIM:613078 )
Source: Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine,
Johns Hopkins University (Baltimore, MD), May, 2012.
World Wide Web URL: http://omim.org/
World Wide Web URL: http://omim.org/
Screening Validation: In vitro validation Validation: In vivo validation Characterization Functional consequence | top |
Screening | ||||||||||
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Experimental screening | Non-experimental screening | Reference | ||||||||
TRP channel construct | Interactor source | |||||||||
TRP channel | Interactor | Method | Species | Region | Species | Organ/tissue | Sample type | |||
TRPP1 | RAD50 | Affinity purification-mass spectrometry | Mouse | Not specified | Mouse | Vascular smooth muscle | MOVAS lysates | 19879844 |
(:
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