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FLASH GENE
Symbol RAD50 contributors: mct/pgu - updated : 31-01-2013
HGNC name RAD50 homolog (S. cerevisiae)
HGNC id 9816
Corresponding disease
NBSLD Nijmegen breakage syndrome -like disorder
Location 5q31.1      Physical location : 131.892.615 - 131.980.312
Synonym symbol(s) MRE11, RAD50-2, hRad50, NBSLD, RAD502
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text clustered with KIF3A, IL13 and IL4
STRUCTURE 87.70 kb     24 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
ACTBP4 5q23.3 actin, beta pseudogene 4 FACL6 5q31 fatty-acid-Coenzyme A ligase, long-chain 6 IL3 5q31.1 interleukin 3 (colony-stimulating factor, multiple) CSF2 5q31.1 colony stimulating factor 2 (granulocyte-macrophage) LOC389325 5 LOC389325 P4HA2 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II RIL 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II SLC22A4 5q31.2 solute carrier family 22 (organic cation transporter), member 4 SLC22A5 5q31.1-q32 solute carrier family 22 (organic cation transporter), member 5 LOC389326 5 hypothetical gene supported by AK096941; AK128882 IRF1 5q31.1 interferon regulatory factor 1 IL5 5q31.1 interleukin 5 (colony-stimulating factor, eosinophil) RAD50 5q31 RAD50 homolog (S. cerevisiae) IL13 5q31.1 interleukin 13 IL4 5q31.1 interleukin 4 KIF3A 5q31 kinesin family member 3A SEPT8 5q31 kinesin family member 3A LOC134548 5q31.1 hypothetical protein LOC134548 APXL2 5q31.1 hypothetical protein LOC134548 GDF9 5q31.1 growth differentiation factor 9 QP-C 5q31.1 low molecular mass ubiquinone-binding protein (9.5kD) LEAP-2 5q31.1 liver-expressed antimicrobial peptide 2 AF5Q31 5q31 liver-expressed antimicrobial peptide 2 LOC389327 5 hypothetical gene supported by AK129671 LOC391832 5 similar to putative nucleic acid binding protein RY-1 FLJ20094 5q31.1 hypothetical protein FLJ20094 HSPA4 5q31.1-q32 heat shock 70kDa protein 4 KIAA1061 5q31.1 KIAA1061 protein
regionally located in a locus control region regulating T helper 2 -specific expression of IL4 and IL13
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
24 - 6597 153.7 1312 - 1999 10415333
  • RAD50-1
  • larger 3'utr than RAD50.2
  • 25 - 5826 138.3 1173 ubiquitous 1999 10415333
    lacking the ATP binding domain
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Endocrinepancreas    
    Reproductivemale systemtestis   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • SMC N-terminal ATP binding domain
  • central heptad repeat domain
  • zinc hook domain mediating zinc-dependent intercomplex associations of MRN (MRE11-RAD50-NBS1), which is important for DNA tethering
  • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae RAD50
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,telomere
    basic FUNCTION
  • involved in DNA double-strand break repair by end joining (non homologous recombination) and meiosis specific double strand break formation
  • essential for cell growth and viability
  • having a biological role as an early participant in cellular DNA-damage responses
  • role of MRN in the maintenance of genome stability through preventing rereplication and rereplication-associated double-stranded breaks when licensing control is compromised
  • MRE11A/RAD50/NBS1 (MRN) complex has a central function in facilitating activation of the ATM protein kinase at sites of DNA double-strand breaks (DSBs)
  • phosphorylation of RAD50 plays a key regulatory role as an adaptor for specific ATM-dependent downstream signaling through SMC1 for DNA repair and cell cycle checkpoint control in the maintenance of genome integrity
  • functions of MRE11 complex are integrated by the coiled coils of RAD50
  • ATP hydrolysis opens the RAD50-MRE11A complex, and MRE11A maintains exonuclease activity
  • CELLULAR PROCESS nucleotide, repair, recombination
    nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with MRE11A and NBN, exonuclease 3' to 5' and endonuclease activities and with BLM (complex MRE11A, RAD50 and NBN (MRN), are central to maintaining genomic stability)
  • MR complex contains the MRE11A nuclease dimer and two flanking RAD50 ATPase domains
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP
    protein
  • BLM, WRN, MRE11A, NBN
  • interaction with RAD50, XRS2/NBN, complex required for TERF1 phosphorylation by ATM and such phosphorylation results in the release of TERF1 from telomeres, promoting telomerase access to the ends of telomeres
  • interacting with NBN in a stable complex, in absence of MRE11
  • NCL interacts with RAD50 via its arginine-glycine rich domain and is recruited to DSBs rapidly in an MRE11-NBS1-RAD50 complex-dependent manner
  • BRCA1 and BLM interact with RAD50 predominantly in S- and G2-phases, respectively
  • cell & other
    REGULATION
    Phosphorylated by ATM, that phosphorylates RAD50 at a single site (Ser-635) that plays an important adaptor role in signaling for cell cycle control and DNA repair
    ASSOCIATED DISORDERS
    corresponding disease(s) NBSLD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in microsatellite stable (MSS) colorectal cancers
    tumoral germinal mutation     loss of function
    in patients with primary ovarian, fallopian tube, or peritoneal cancers
    tumoral     --over  
    in melanoma cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS