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

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 several functions, including ATP hydrolysis activity; DNA binding activity; and protein serine/threonine kinase activator 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. Part of Mre11 complex. Is expressed in several structures, including aorta; genitourinary system; hemolymphoid system gland; liver; and lung. 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, Dec 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 4.4), CNS E11.5 (RPKM 4.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Rad50-null mutation in mouse germ cells causes reduced DSB formation, abnormal DSB end resection and complete loss of germ cells.
Title: A Rad50-null mutation in mouse germ cells causes reduced DSB formation, abnormal DSB end resection and complete loss of germ cells.
LPS-induced mitochondrial DNA synthesis and release facilitate RAD50-dependent acute lung injury.
Title: LPS-induced mitochondrial DNA synthesis and release facilitate RAD50-dependent acute lung injury.
Rad50 mediates DNA demethylation to establish pluripotent reprogramming.
Title: Rad50 mediates DNA demethylation to establish pluripotent reprogramming.
RHS6 is a critical regulatory element for allergic airway inflammation and for coordinate regulation of Th2 cytokine genes by recruiting GATA3, SATB1, and IRF4.
Title: RHS6 coordinately regulates the Th2 cytokine genes by recruiting GATA3, SATB1, and IRF4.
Low RAD50 expression is associated with B-cell lymphomas.
Title: MRE11 Promotes Tumorigenesis by Facilitating Resistance to Oncogene-Induced Replication Stress.
The authors demonstrate that ATM can be activated by DNA double-strand breaks in the absence of the Mre11-Rad50-NBS1 (MRN) sensor complex.
Title: Recruitment and activation of the ATM kinase in the absence of DNA-damage sensors.
Rad50 hook domain strongly influences Mre11 complex-dependent DDR signaling, tissue homeostasis, and tumorigenesis.
Title: The Rad50 hook domain regulates DNA damage signaling and tumorigenesis.
RAD50, DNA-PKcs kinase activity, and transcription context are each important to limit incorrect end use during EJ repair of multiple DSBs, but each has distinct roles during repair events requiring end processing
Title: Correct end use during end joining of multiple chromosomal double strand breaks is influenced by repair protein RAD50, DNA-dependent protein kinase DNA-PKcs, and transcription context.
Data show that CS-mediated SCC lethality was mitigated in irradiated gain-of-function Rad50(s/s) mice, and epistasis studies order Rad50 upstream of Mre11.
Title: Regulation of ceramide synthase-mediated crypt epithelium apoptosis by DNA damage repair enzymes.
MRE11-RAD50-NBS1 complex dictates DNA repair independent of H2AX.
Title: MRE11-RAD50-NBS1 complex dictates DNA repair independent of H2AX.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (11) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

stSG601375 (e-PCR)
- UniSTS:444183

Rad50 (e-PCR), detects polymorphism
- UniSTS:256829

Rad50 (e-PCR), detects polymorphism
- UniSTS:256830

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 ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation 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 chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation 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 identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activator activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activator activity	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
involved_in DNA double-strand break processing	ISS Inferred from Sequence or Structural Similarity more info
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	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
involved_in R-loop processing	ISO Inferred from Sequence Orthology more info
involved_in R-loop processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin looping	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 double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in homologous recombination	NAS Non-traceable Author Statement more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
part_of Mre11 complex	ISO Inferred from Sequence Orthology more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in chromosomal region	NAS Non-traceable Author Statement more info	PubMed
located_in chromosome, telomeric region	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
is_active_in site of double-strand break	ISO Inferred from Sequence Orthology more info
located_in site of double-strand break	ISO Inferred from Sequence Orthology more info
is_active_in site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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)

NM_009012.2 → NP_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:2 → 1312

rad50; rad50

cd03240
Location:1195 → 1297

ABC_Rad50; ATP-binding cassette domain of Rad50

pfam04423
Location:659 → 709

Rad50_zn_hook; Rad50 zinc hook motif

cl19219
Location:893 → 1002

DUF342; Protein of unknown function (DUF342)