InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: RAD50

Summary

InnateDB Gene

IDBG-42351.6

Last Modified

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

Gene Symbol

RAD50

Gene Name

RAD50 homolog (S. cerevisiae)

Synonyms

hRad50; NBSLD; RAD502

Species

Homo sapiens

Ensembl Gene

ENSG00000113522

Encoded Proteins

IDBP-42353

RAD50 homolog (S. cerevisiae)

IDBP-376352

RAD50 homolog (S. cerevisiae)

IDBP-376376

RAD50 homolog (S. cerevisiae)

IDBP-376382

RAD50 homolog (S. cerevisiae)

IDBP-376385

RAD50 homolog (S. cerevisiae)

IDBP-376390

RAD50 homolog (S. cerevisiae)

IDBP-597520

RAD50 homolog (S. cerevisiae)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 5:132556019-132646344

Strand

Forward strand

Band

q31.1

Transcripts

ENST00000378823	ENSP00000368100
ENST00000416135	ENSP00000389515
ENST00000423956	ENSP00000390971
ENST00000453394	ENSP00000400049
ENST00000434288	ENSP00000396100
ENST00000455677	ENSP00000396860
ENST00000487596
ENST00000496204
ENST00000533482	ENSP00000431225

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