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RAD50 RAD50 double strand break repair protein [ Homo sapiens (human) ]

Gene ID: 10111, updated on 7-Jun-2020

Summary

Official Symbol
RAD50provided by HGNC
Official Full Name
RAD50 double strand break repair proteinprovided by HGNC
Primary source
HGNC:HGNC:9816
See related
Ensembl:ENSG00000113522 MIM:604040
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]
Expression
Ubiquitous expression in testis (RPKM 10.5), thyroid (RPKM 10.5) and 25 other tissues See more
Orthologs

Genomic context

See RAD50 in Genome Data Viewer
Location:
5q31.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (132556977..132646349)
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 Th2 cytokine locus control region Neighboring gene T helper type 2 locus control region associated RNA Neighboring gene uncharacterized LOC105379176 Neighboring gene interleukin 13 Neighboring gene interleukin 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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 identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.
NHGRI GWA Catalog
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to 3'-5' exonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to 3'-5' exonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
G-quadruplex DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-stranded telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to single-stranded DNA endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
single-stranded telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA double-strand break processing TAS
Traceable Author Statement
more info
 
DNA duplex unwinding IBA
Inferred from Biological aspect of Ancestor
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 replication TAS
Traceable Author Statement
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
chromosome organization involved in meiotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via homologous recombination TAS
Traceable Author Statement
more info
 
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
negative regulation of telomere capping IDA
Inferred from Direct Assay
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoside monophosphate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
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 
positive regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
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 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
telomere capping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere maintenance TAS
Traceable Author Statement
more info
PubMed 
telomere maintenance via recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere maintenance via telomerase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
telomeric 3' overhang formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Mre11 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Mre11 complex IDA
Inferred from Direct Assay
more info
PubMed 
Mre11 complex TAS
Traceable Author Statement
more info
PubMed 
condensed nuclear chromosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromosome, telomeric region HDA PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA repair protein RAD50
Names
RAD50 homolog, double strand break repair protein

NCBI Reference Sequences (RefSeq)

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_021151.2 RefSeqGene

    Range
    5001..94373
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005732.4NP_005723.2  DNA repair protein RAD50

    See identical proteins and their annotated locations for NP_005723.2

    Status: REVIEWED

    Source sequence(s)
    AC004041, AC116366, BC140005, U63139
    Consensus CDS
    CCDS34233.1
    UniProtKB/Swiss-Prot
    Q92878
    UniProtKB/TrEMBL
    A5D6Y3
    Related
    ENSP00000368100.4, ENST00000378823.8
    Conserved Domains (3) summary
    TIGR00606
    Location:21312
    rad50; rad50
    cd03240
    Location:11951297
    ABC_Rad50; ATP-binding cassette domain of Rad50
    pfam04423
    Location:659709
    Rad50_zn_hook; Rad50 zinc hook motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    132556977..132646349
    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.
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