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Aliases for RAD50 Gene

Aliases for RAD50 Gene

  • RAD50 Homolog (S. Cerevisiae) 2 3
  • HRad50 3 4
  • NBSLD 3 6
  • RAD50 (S. Cerevisiae) Homolog 2
  • DNA Repair Protein RAD50 3
  • EC 3.6.3.27 64
  • EC 3.6.1.15 64
  • EC 3.6.-.- 4
  • EC 3.6.3 64
  • RAD502 3

External Ids for RAD50 Gene

Summaries for RAD50 Gene

Entrez Gene Summary for RAD50 Gene

  • 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]

GeneCards Summary for RAD50 Gene

RAD50 (RAD50 Homolog (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with RAD50 include nijmegen breakage syndrome-like disorder and nijmegen breakage syndrome. Among its related pathways are Integrated Pancreatic Cancer Pathway and Cell Cycle / Checkpoint Control. GO annotations related to this gene include protein binding, bridging and 3-5 exonuclease activity.

UniProtKB/Swiss-Prot for RAD50 Gene

  • 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.

Gene Wiki entry for RAD50 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAD50 Gene

Genomics for RAD50 Gene

Genomic Location for RAD50 Gene

Start:
132,556,019 bp from pter
End:
132,646,344 bp from pter
Size:
90,326 bases
Orientation:
Plus strand

Genomic View for RAD50 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAD50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAD50 Gene

Regulatory Elements for RAD50 Gene

Proteins for RAD50 Gene

  • Protein details for RAD50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92878-RAD50_HUMAN
    Recommended name:
    DNA repair protein RAD50
    Protein Accession:
    Q92878
    Secondary Accessions:
    • B9EGF5
    • O43254
    • Q6GMT7
    • Q6P5X3
    • Q9UP86

    Protein attributes for RAD50 Gene

    Size:
    1312 amino acids
    Molecular mass:
    153892 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per homodimer.;
    Quaternary structure:
    • Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN. Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11A and NBN. Found in a complex with TERF2. Interacts with RINT1. Interacts with BRCA1 via its N-terminal domain. Interacts with DCLRE1C/Artemis. Interacts with herpes simplex virus 1 protein UL12 (PubMed:20943970).
    Miscellaneous:
    • In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral oncoproteins, thereby preventing concatenation of viral genomes in infected cells
    SequenceCaution:
    • Sequence=AAH62603.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for RAD50 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAD50 Gene

Proteomics data for RAD50 Gene at MOPED

Selected DME Specific Peptides for RAD50 Gene

Post-translational modifications for RAD50 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys62, Lys175, Lys187, Lys211, Lys295, Lys461, Lys845, Lys1119, Lys1134, and Lys1285

Other Protein References for RAD50 Gene

Domains for RAD50 Gene

Protein Domains for RAD50 Gene

UniProtKB/Swiss-Prot:

RAD50_HUMAN
Domain:
  • The zinc-hook, which separates the large intramolecular coiled coil regions, contains 2 Cys residues that coordinate one molecule of zinc with the help of the 2 Cys residues of the zinc-hook of another RAD50 molecule, thereby forming a V-shaped homodimer. The two heads of the homodimer, which constitute the ATP-binding domain, interact with the MRE11A homodimer (By similarity).:
    • Q92878
  • Contains 1 zinc-hook domain.:
    • Q92878
Family:
  • Belongs to the SMC family. RAD50 subfamily.:
    • Q92878
genes like me logo Genes that share domains with RAD50: view

No data available for Gene Families for RAD50 Gene

Function for RAD50 Gene

Molecular function for RAD50 Gene

GENATLAS Biochemistry: RAD50 (S cerevisiae) homolog,involved in DNA recombinational repair and meiosis specific double strand break formation,complexing with MR11 and NBS1
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for RAD50 Gene

Gene Ontology (GO) - Molecular Function for RAD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 contributes_to single-stranded DNA endodeoxyribonuclease activity IDA 9705271
GO:0003677 DNA binding IDA 15790808
GO:0004003 contributes_to ATP-dependent DNA helicase activity IMP 15790808
GO:0004518 nuclease activity --
GO:0005515 protein binding IPI 11096100
genes like me logo Genes that share ontologies with RAD50: view
genes like me logo Genes that share phenotypes with RAD50: view

Animal Models for RAD50 Gene

MGI Knock Outs for RAD50:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for RAD50 Gene

Localization for RAD50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAD50 Gene

Nucleus. Chromosome, telomere. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAD50 Gene COMPARTMENTS Subcellular localization image for RAD50 gene
Compartment Confidence
nucleus 5
cytosol 3
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RAD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 10888888
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane IDA 19946888
GO:0030870 Mre11 complex IDA 19151086
genes like me logo Genes that share ontologies with RAD50: view

Pathways for RAD50 Gene

genes like me logo Genes that share pathways with RAD50: view

Gene Ontology (GO) - Biological Process for RAD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000019 regulation of mitotic recombination IDA 8756642
GO:0000723 telomere maintenance TAS 10888888
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0000737 DNA catabolic process, endonucleolytic --
GO:0006281 DNA repair TAS --
genes like me logo Genes that share ontologies with RAD50: view

Compounds for RAD50 Gene

(8) Novoseek inferred chemical compound relationships for RAD50 Gene

Compound -log(P) Hits PubMed IDs
tin(2+) 79.8 2
mononucleotide 71.4 3
methylmethanesulfonate 53.2 1
camptothecin 49 1
hydroxyurea 38.4 1
genes like me logo Genes that share compounds with RAD50: view

Transcripts for RAD50 Gene

Unigene Clusters for RAD50 Gene

RAD50 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAD50 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2: - -
SP3:

ExUns: 23 ^ 24 ^ 25a · 25b
SP1:
SP2:
SP3:

Relevant External Links for RAD50 Gene

GeneLoc Exon Structure for
RAD50
ECgene alternative splicing isoforms for
RAD50

Expression for RAD50 Gene

mRNA expression in normal human tissues for RAD50 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for RAD50 Gene

SOURCE GeneReport for Unigene cluster for RAD50 Gene Hs.633509

mRNA Expression by UniProt/SwissProt for RAD50 Gene

Q92878-RAD50_HUMAN
Tissue specificity: Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts.
genes like me logo Genes that share expressions with RAD50: view

Orthologs for RAD50 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAD50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAD50 36
  • 99.64 (n)
  • 99.85 (a)
RAD50 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAD50 36
  • 92.66 (n)
  • 95.05 (a)
RAD50 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAD50 36
  • 93.67 (n)
  • 96.19 (a)
RAD50 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rad50 36
  • 87.91 (n)
  • 92.3 (a)
Rad50 16
Rad50 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAD50 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 86 (a)
OneToMany
-- 37
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rad50 36
  • 87.8 (n)
  • 92.07 (a)
chicken
(Gallus gallus)
Aves RAD50 36
  • 74.8 (n)
  • 77.13 (a)
RAD50 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAD50 37
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rad50 36
  • 71.49 (n)
  • 76.37 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13354 36
zebrafish
(Danio rerio)
Actinopterygii rad50 36
  • 67.35 (n)
  • 70.96 (a)
rad50 37
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003676 36
  • 43.28 (n)
  • 31.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta rad50 36
  • 44.33 (n)
  • 30.87 (a)
rad50 37
  • 28 (a)
OneToOne
rad50 38
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea rad-50 37
  • 25 (a)
OneToOne
rad-50 38
  • 25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD50 37
  • 27 (a)
OneToOne
RAD50 39
thale cress
(Arabidopsis thaliana)
eudicotyledons RAD50 36
  • 46.84 (n)
  • 34.84 (a)
rice
(Oryza sativa)
Liliopsida Os.7297 36
Os02g0497500 36
  • 46.5 (n)
  • 34.96 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.1241 36
bread mold
(Neurospora crassa)
Ascomycetes NCU00901 36
  • 43.46 (n)
  • 31.41 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.731 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 37 (a)
OneToOne
Species with no ortholog for RAD50:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RAD50 Gene

ENSEMBL:
Gene Tree for RAD50 (if available)
TreeFam:
Gene Tree for RAD50 (if available)

Paralogs for RAD50 Gene

No data available for Paralogs for RAD50 Gene

Variants for RAD50 Gene

Sequence variations from dbSNP and Humsavar for RAD50 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs1047380 - 132,594,921(+) AACTA(A/G)AAAGA reference, missense
rs1047382 - 132,595,693(+) AGAAG(C/T)CATCA missense, reference
rs1047386 - 132,609,177(+) AGAAT(C/T)ATATT missense, reference
rs1047387 - 132,616,078(+) AAGAA(A/G)GAAAA reference, missense
rs1047388 -- 132,637,142(+) ATGAA(A/G)ATGGA reference, synonymous-codon

Relevant External Links for RAD50 Gene

HapMap Linkage Disequilibrium report
RAD50
Human Gene Mutation Database (HGMD)
RAD50

No data available for Structural Variations from Database of Genomic Variants (DGV) for RAD50 Gene

Disorders for RAD50 Gene

(1) OMIM Diseases for RAD50 Gene (604040)

UniProtKB/Swiss-Prot

RAD50_HUMAN
  • Nijmegen breakage syndrome-like disorder (NBSLD) [MIM:613078]: A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent. {ECO:0000269 PubMed:19409520}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for RAD50 Gene

(11) Novoseek inferred disease relationships for RAD50 Gene

Disease -log(P) Hits PubMed IDs
nijmegen breakage syndrome 88.6 5
ataxia telangiectasia 70.8 4
microsatellite instability 59.7 2
fanconis anemia 45.5 2
colorectal cancer 32.7 1

Relevant External Links for RAD50

Genetic Association Database (GAD)
RAD50
Human Genome Epidemiology (HuGE) Navigator
RAD50
genes like me logo Genes that share disorders with RAD50: view

Publications for RAD50 Gene

  1. Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair. (PMID: 8756642) Dolganov G.M. … Petrini J.H.J. (Mol. Cell. Biol. 1996) 2 3 4 23
  2. Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95. (PMID: 9705271) Trujillo K.M. … Sung P. (J. Biol. Chem. 1998) 2 3 4 23
  3. The 3' to 5' exonuclease activity of Mre 11 facilitates repair of DNA double-strand breaks. (PMID: 9651580) Paull T.T. … Gellert M. (Mol. Cell 1998) 3 4 23
  4. Molecular cloning and characterization of splice variants of human RAD50 gene. (PMID: 10415333) Kim K.K. … Park B.R. (Gene 1999) 3 4 23
  5. Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response. (PMID: 10426999) Zhong Q. … Lee W.-H. (Science 1999) 3 4 23

Products for RAD50 Gene

Sources for RAD50 Gene

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