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RAD50 RAD50 homolog (S. cerevisiae) [ Homo sapiens (human) ]

Gene ID: 10111, updated on 6-Jul-2014
Official Symbol
RAD50provided by HGNC
Official Full Name
RAD50 homolog (S. cerevisiae)provided by HGNC
Primary source
HGNC:9816
See related
Ensembl:ENSG00000113522; HPRD:04950; MIM:604040; Vega:OTTHUMG00000059613
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NBSLD; RAD502; hRad50
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]
See RAD50 in Epigenomics, MapViewer
Location:
5q31
Exon count :
25
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (132556924..132644621)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131892616..131980313)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene interferon regulatory factor 1 Neighboring gene interleukin 5 Neighboring gene uncharacterized LOC101927761 Neighboring gene interleukin 13 Neighboring gene interleukin 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Nijmegen breakage syndrome-like disorder
MedGen: C2751318 OMIM: 613078 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
NHGRI GWA Catalog
Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.
NHGRI GWA Catalog
Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to 3'-5' exonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to ATP-dependent DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to single-stranded DNA endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA catabolic process, endonucleolytic IDA
Inferred from Direct Assay
more info
PubMed 
DNA duplex unwinding IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA recombination IDA
Inferred from Direct Assay
more info
PubMed 
DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair TAS
Traceable Author Statement
more info
 
double-strand break repair via homologous recombination TAS
Traceable Author Statement
more info
 
nucleic acid phosphodiester bond hydrolysis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
reciprocal meiotic recombination TAS
Traceable Author Statement
more info
PubMed 
regulation of mitotic recombination IDA
Inferred from Direct Assay
more info
PubMed 
telomere maintenance TAS
Traceable Author Statement
more info
PubMed 
telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Mre11 complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
pronucleus IEA
Inferred from Electronic Annotation
more info
 
site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
DNA repair protein RAD50
Names
DNA repair protein RAD50

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021151.1 

    Range
    5001..92698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005732.3NP_005723.2  DNA repair protein RAD50

    See proteins identical to NP_005723.2

    Status: REVIEWED

    Source sequence(s)
    AC004041, BC140005, DB112912, U63139
    Consensus CDS
    CCDS34233.1
    UniProtKB/TrEMBL
    A5D6Y3
    UniProtKB/Swiss-Prot
    Q92878
    Related
    ENSP00000265335, OTTHUMP00000065927, ENST00000265335, OTTHUMT00000132566
    Conserved Domains (4) summary
    TIGR00606
    Location:21312
    Blast Score: 4746
    rad50; rad50
    pfam00901
    Location:222328
    Blast Score: 91
    Orbi_VP5; Orbivirus outer capsid protein VP5
    cd03240
    Location:11951297
    Blast Score: 393
    ABC_Rad50; ATP-binding cassette domain of Rad50
    pfam04423
    Location:658713
    Blast Score: 104
    Rad50_zn_hook; Rad50 zinc hook motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    132556924..132644621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    127084875..127172627
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    131325888..131413608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_133482.1: Suppressed sequence

    Description
    NM_133482.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

Supplemental Content

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