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Aliases for RAD50 Gene

Aliases for RAD50 Gene

  • RAD50 Double Strand Break Repair Protein 2 3
  • RAD50 Homolog, Double Strand Break Repair Protein 2 3 5
  • HRad50 3 4
  • RAD50 (S. Cerevisiae) Homolog 2
  • RAD50 Homolog (S. Cerevisiae) 2
  • EC 3.6.3.27 63
  • EC 3.6.1.15 63
  • EC 3.6.-.- 4
  • EC 3.6.3 63
  • RAD502 3
  • NBSLD 3

External Ids for RAD50 Gene

Previous GeneCards Identifiers for RAD50 Gene

  • GC05P131414
  • GC05P132339
  • GC05P131923
  • GC05P131968
  • GC05P131920
  • GC05P127084

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 Double Strand Break Repair Protein) is a Protein Coding gene. Diseases associated with RAD50 include Nijmegen Breakage Syndrome-Like Disorder and Nijmegen Breakage Syndrome. Among its related pathways are Packaging Of Telomere Ends and Cell Cycle Checkpoints. GO annotations related to this gene include ATPase activity and ATP-dependent DNA helicase 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

Regulatory Elements for RAD50 Gene

Enhancers for RAD50 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RAD50 on UCSC Golden Path with GeneCards custom track

Promoters for RAD50 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAD50 on UCSC Golden Path with GeneCards custom track

Genomic Location for RAD50 Gene

Chromosome:
5
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

Genes around RAD50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAD50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAD50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    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

  • Ubiquitination at Lys 62, Lys 175, Lys 187, Lys 211, Lys 295, Lys 461, Lys 845, Lys 1119, Lys 1134, and Lys 1285
  • Modification sites at PhosphoSitePlus

Other Protein References for RAD50 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RAD50 (RAD50)
  • Abcam antibodies for Rad50

Domains & Families for RAD50 Gene

Protein Domains for RAD50 Gene

Suggested Antigen Peptide Sequences for RAD50 Gene

Graphical View of Domain Structure for InterPro Entry

Q92878

UniProtKB/Swiss-Prot:

RAD50_HUMAN :
  • 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).
  • Belongs to the SMC family. RAD50 subfamily.
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).
  • Contains 1 zinc-hook domain.
Family:
  • Belongs to the SMC family. RAD50 subfamily.
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:0003677 DNA binding IDA 15790808
GO:0003691 double-stranded telomeric DNA binding IBA --
GO:0004003 contributes_to ATP-dependent DNA helicase activity IMP 15790808
GO:0005515 protein binding IPI 11096100
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with RAD50: view
genes like me logo Genes that share phenotypes with RAD50: view

Human Phenotype Ontology for RAD50 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAD50 Gene

MGI Knock Outs for RAD50:

Animal Model Products

No data available for Transcription Factor Targets 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:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with RAD50: view

Pathways & Interactions for RAD50 Gene

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

SIGNOR curated interactions for RAD50 Gene

Activates:
Other effect:

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:0000722 telomere maintenance via recombination IBA --
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
GO:0006260 DNA replication TAS --
genes like me logo Genes that share ontologies with RAD50: view

Drugs & Compounds for RAD50 Gene

(5) Drugs for RAD50 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for RAD50 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Protein differential expression in normal tissues from HIPED for RAD50 Gene

This gene is overexpressed in Lymph node (16.9) and Peripheral blood mononuclear cells (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with RAD50: view

Protein tissue co-expression partners for RAD50 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RAD50 Gene

Orthologs for RAD50 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAD50 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAD50 35
  • 92.66 (n)
  • 95.05 (a)
RAD50 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAD50 35
  • 93.67 (n)
  • 96.19 (a)
RAD50 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rad50 35
  • 87.91 (n)
  • 92.3 (a)
Rad50 16
Rad50 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAD50 35
  • 99.64 (n)
  • 99.85 (a)
RAD50 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rad50 35
  • 87.8 (n)
  • 92.07 (a)
oppossum
(Monodelphis domestica)
Mammalia RAD50 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
chicken
(Gallus gallus)
Aves RAD50 35
  • 74.8 (n)
  • 77.13 (a)
RAD50 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAD50 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rad50 35
  • 71.49 (n)
  • 76.37 (a)
zebrafish
(Danio rerio)
Actinopterygii rad50 35
  • 67.35 (n)
  • 70.96 (a)
rad50 36
  • 71 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13354 35
fruit fly
(Drosophila melanogaster)
Insecta rad50 37
  • 28 (a)
rad50 35
  • 44.33 (n)
  • 30.87 (a)
rad50 36
  • 28 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003676 35
  • 43.28 (n)
  • 31.73 (a)
worm
(Caenorhabditis elegans)
Secernentea rad-50 37
  • 25 (a)
rad-50 36
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD50 36
  • 27 (a)
OneToOne
RAD50 38
thale cress
(Arabidopsis thaliana)
eudicotyledons RAD50 35
  • 46.84 (n)
  • 34.84 (a)
rice
(Oryza sativa)
Liliopsida Os.7297 35
Os02g0497500 35
  • 46.5 (n)
  • 34.96 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.1241 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.731 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00901 35
  • 43.46 (n)
  • 31.41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
rs1047380 - 132,594,921(+) AACTA(A/G)AAAGA reference, missense
rs1047382 - 132,595,693(+) AGAAG(C/T)CATCA reference, missense
rs1047386 - 132,609,177(+) AGAAT(C/T)ATATT reference, missense
rs1129482 - 132,609,205(+) CTATA(A/T)GAAGC reference, missense
rs1047387 - 132,616,078(+) AAGAA(A/G)GAAAA reference, missense

Variation tolerance for RAD50 Gene

Residual Variation Intolerance Score: 36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAD50 Gene

Human Gene Mutation Database (HGMD)
RAD50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RAD50 Gene

Disorders for RAD50 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RAD50 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nijmegen breakage syndrome-like disorder
  • microcephaly and chromosomal instability without immunodeficiency
nijmegen breakage syndrome
  • berlin breakage syndrome
ataxia-telangiectasia-like disorder
  • ataxia-telangiectasia-like syndrome
ataxia-telangiectasia
  • ataxia telangiectasia
hereditary breast ovarian cancer
  • breast/ovarian cancer, hereditary
- elite association - COSMIC cancer census association via MalaCards
Search RAD50 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for RAD50

Genetic Association Database (GAD)
RAD50
Human Genome Epidemiology (HuGE) Navigator
RAD50
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAD50
genes like me logo Genes that share disorders with RAD50: view

No data available for Genatlas for RAD50 Gene

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 67
  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 23
  3. RAD50 and NBS1 form a stable complex functional in DNA binding and tethering. (PMID: 19151086) van der Linden E. … Wyman C. (Nucleic Acids Res. 2009) 3 23
  4. Sequence variant discovery in DNA repair genes from radiosensitive and radiotolerant prostate brachytherapy patients. (PMID: 19638463) Pugh T.J. … Moore R.A. (Clin. Cancer Res. 2009) 3 23
  5. BRCA1 localization to the telomere and its loss from the telomere in response to DNA damage. (PMID: 19797051) Ballal R.D. … Rosen E.M. (J. Biol. Chem. 2009) 3 23

Products for RAD50 Gene

Sources for RAD50 Gene

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