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Rad50 RAD50 double strand break repair protein [ Mus musculus (house mouse) ]

Gene ID: 19360, updated on 8-Feb-2024

Summary

Official Symbol
Rad50provided by MGI
Official Full Name
RAD50 double strand break repair proteinprovided by MGI
Primary source
MGI:MGI:109292
See related
Ensembl:ENSMUSG00000020380 AllianceGenome:MGI:109292
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Mrell; Rad50l
Summary
Predicted to enable DNA binding activity; identical protein binding activity; and protein-macromolecule adaptor activity. Predicted to contribute to 3'-5' exonuclease activity; DNA helicase activity; and single-stranded DNA endodeoxyribonuclease activity. Acts upstream of or within chromosome organization involved in meiotic cell cycle and regulation of mitotic cell cycle. Located in pronucleus. Is expressed in several structures, including aorta; hemolymphoid system gland; liver; lung; and testis. Human ortholog(s) of this gene implicated in transitional cell carcinoma. Orthologous to human RAD50 (RAD50 double strand break repair protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 4.4), CNS E11.5 (RPKM 4.2) and 28 other tissues See more
Orthologs
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Genomic context

See Rad50 in Genome Data Viewer
Location:
11 B1.3; 11 31.98 cM
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (53540346..53598146, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (53649519..53707319, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene origin of replication in Il13 Neighboring gene interleukin 13 Neighboring gene ribosomal protein S2, pseudogene 4 Neighboring gene Th2 cytokine locus control region Neighboring gene interleukin 5 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:53568511-53568694 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:53576931-53577191 Neighboring gene microRNA 7671

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (11)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to 3'-5' exonuclease activity ISO
Inferred from Sequence Orthology
more info
 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables DNA binding ISO
Inferred from Sequence Orthology
more info
 
contributes_to DNA helicase activity ISO
Inferred from Sequence Orthology
more info
 
enables G-quadruplex DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables double-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables double-stranded telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables protein-macromolecule adaptor activity ISO
Inferred from Sequence Orthology
more info
 
contributes_to single-stranded DNA endodeoxyribonuclease activity ISO
Inferred from Sequence Orthology
more info
 
enables single-stranded telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in DNA double-strand break processing NAS
Non-traceable Author Statement
more info
PubMed 
involved_in DNA duplex unwinding IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in DNA duplex unwinding ISO
Inferred from Sequence Orthology
more info
 
involved_in DNA recombination ISO
Inferred from Sequence Orthology
more info
 
involved_in DNA repair ISO
Inferred from Sequence Orthology
more info
 
involved_in DNA strand resection involved in replication fork processing NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within chromosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chromosome organization involved in meiotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within chromosome organization involved in meiotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in double-strand break repair ISO
Inferred from Sequence Orthology
more info
 
involved_in homologous recombination NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in mitotic G2/M transition checkpoint NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of telomere capping ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of viral entry into host cell ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of kinase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of protein autophosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of telomere maintenance ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of mitotic recombination ISO
Inferred from Sequence Orthology
more info
 
involved_in telomere maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in telomere maintenance via recombination IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in telomere maintenance via telomerase IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in telomere maintenance via telomerase ISO
Inferred from Sequence Orthology
more info
 
involved_in telomeric 3' overhang formation ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of BRCA1-C complex ISO
Inferred from Sequence Orthology
more info
 
part_of Mre11 complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of Mre11 complex ISO
Inferred from Sequence Orthology
more info
 
part_of chromatin ISO
Inferred from Sequence Orthology
more info
 
located_in chromosomal region NAS
Non-traceable Author Statement
more info
PubMed 
located_in chromosome IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
 
located_in chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
 
is_active_in condensed nuclear chromosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in condensed nuclear chromosome ISO
Inferred from Sequence Orthology
more info
 
located_in inclusion body ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in pronucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in site of double-strand break ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
DNA repair protein RAD50
Names
RAD50 homolog
mRad50

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_009012.2NP_033038.2  DNA repair protein RAD50

    See identical proteins and their annotated locations for NP_033038.2

    Status: VALIDATED

    Source sequence(s)
    AL645741
    Consensus CDS
    CCDS24684.1
    UniProtKB/Swiss-Prot
    P70388, Q6PEB0, Q8C2T7, Q9CU59
    UniProtKB/TrEMBL
    Q5SV02
    Related
    ENSMUSP00000020649.8, ENSMUST00000020649.14
    Conserved Domains (4) 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
    cl19219
    Location:8931002
    DUF342; Protein of unknown function (DUF342)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    53540346..53598146 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)