Rad50
Gene Detail

Symbol Name ID

Rad50 RAD50 homolog (S. cerevisiae) MGI:109292

Synonyms

Mrell, Rad50l

Feature Type

protein coding gene

Genetic Map

Chromosome 11

31.98 cM, cytoband A5-B1
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

Chr11:53649519-53707319 bp, - strand From VEGA annotation of GRCm38   57801 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:38092  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: DNA repair protein RAD50
Gene Tree: Rad50

Human homologs

Human Homolog		RAD50, RAD50 homolog (S. cerevisiae)
NCBI Gene ID		10111
neXtProt AC		NX_Q92878
Human Synonyms		hRad50, NBSLD, RAD502
Human Chr (Location)		5q31; chr5:131892616-131980313 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human RAD50

Alleles and phenotypes

All alleles(11) : Targeted(7) Gene trapped(4)
 

Homozygotes for a targeted hypomorphic mutation exhibit growth defects, predisposition toward cancer, progressive loss of hematopoietic and spermatogenic stem cells, and lethality due to bone marrow depletion. A null mutation results in embryonic death.

 
Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (35 annotations)

Process	cell cycle, DNA duplex unwinding, ...
Component	chromosome, chromosome, telomeric region, ...
Function	3'-5' exonuclease activity, ATP binding, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (37)    Tissues (23)    Images (8)
Theiler Stages: 26, 28

Assay Type	Results
Northern blot	35
RT-PCR	2

cDNA source data(99)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(111) Genomic(6) cDNA(102) Primer pair(2) Other(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000005644 (Evidence)
Ensembl Gene Model	ENSMUSG00000020380 (Evidence)
Entrez Gene	19360 (Evidence)
UniGene	4888
DFCI	TC1578170, TC1593186
DoTS	DT.101740974, DT.490612, DT.91301296, DT.91400788, DT.97377840
NIA Mouse Gene Index	U032768
EC	3.6.-.-
Consensus CDS Project	CCDS24684.1
International Mouse Knockout Project Status	Rad50

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005644	VEGA Gene Model | MGI Sequence Detail	57801	C57BL/6J
transcript	OTTMUST00000012555	VEGA | MGI Sequence Detail	5153	Not Applicable
polypeptide	OTTMUSP00000005819	VEGA | MGI Sequence Detail	1312	Not Applicable

All sequences(50) RefSeq(2) UniProt(7)

Polymorphisms

SNPs(326 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR007517	Rad50 zinc hook
InterPro	IPR004584	Recombination/repair protein Rad50
InterPro	IPR013134	Zinc hook, Rad50
Protein Ontology	PR:000013671	DNA repair protein RAD50

References

(Earliest) J:36725 Kim KK, et al., Mouse RAD50 has limited epitopic homology to p53 and is expressed in the adult myocardium. J Biol Chem. 1996 Nov 15;271(46):29255-64
(Latest) J:192524 Hwang SS, et al., Transcription factor YY1 is essential for regulation of the Th2 cytokine locus and for Th2 cell differentiation. Proc Natl Acad Sci U S A. 2013 Jan 2;110(1):276-81
All references(50)

Other accession IDs

MGD-MRK-38337, MGI:894309