Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

RAD50

protein_coding 5 132,556,019 - 132,646,349 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000113522

Gene type
protein_coding

Chromosome
5

Coordinates
132,556,019 - 132,646,349

Strand
+

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

10111 CCDS34233 ENST00000378823.8 NM_005732 NM_005732.4 Q92878 RAD50 (S. cerevisiae) homolog RAD50 homolog (S. cerevisiae) RAD50 homolog, double strand break repair protein RAD50-2 hRad50

Summary

GENCODE gene_type=protein_coding; HGNC symbol=RAD50; HGNC name=RAD50 double strand break repair protein; alias_count=12; RefSeq=NM_005732; UniProt=Q92878; MANE Select=ENST00000378823.8,NM_005732.4

Source: GENCODE + HGNC complete set

10111 • protein-coding

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]

NCBI Gene

UniProt

Q92878 • reviewed

Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:15064416, PubMed:21757780, PubMed:27889449, PubMed:28134932, PubMed:28867292, PubMed:9590181, PubMed:9651580, PubMed:9705271). The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases (PubMed:15064416, PubMed:21757780, PubMed:27889449, PubMed:28867292, PubMed:9590181, PubMed:9651580, PubMed:9705271). The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage (PubMed:15064416, PubMed:27889449, PubMed:28867292, PubMed:9590181, PubMed:9651580, PubMed:9705271). The MRN complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11, to initiate end resection, which is required for single-strand invasion and recombination (PubMed:11741547, PubMed:9590181, PubMed:9651580, PubMed:9705271). Within the complex, RAD50 is both required to bind DNA ends and hold them in close proximity and regulate the activity of MRE11 (PubMed:11741547, PubMed:12805565, PubMed:28134932). RAD50 provides an ATP-dependent control of MRE11 by positioning DNA ends into the MRE11 active site: ATP-binding induces a large structural change from an open form with accessible MRE11 nuclease sites into a closed form (By similarity). The MRN complex is also required for DNA damage signaling via activation of the ATM and ATR kinases: the nuclease activity of MRE11 is not required to activate ATM and ATR (PubMed:15064416, PubMed:15790808, PubMed:16622404). The MRN complex is also required for the processing of R-loops (PubMed:31537797). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888)

DNA repair protein RAD50 · Nucleus; Chromosome, telomere; Chromosome

GO annotations

Biological process

GO:0006974 DNA damage response (IDA)
GO:0000729 DNA double-strand break processing (IDA)
GO:0000729 DNA double-strand break processing (IDA)
GO:0000729 DNA double-strand break processing (NAS)
GO:0006310 DNA recombination (IDA)
GO:0006281 DNA repair (IEA)
GO:0006281 DNA repair (IDA)
GO:0110025 DNA strand resection involved in replication fork processing (IDA)
GO:0110025 DNA strand resection involved in replication fork processing (NAS)
GO:0062176 R-loop processing (IDA)

+ 21 more

Cellular component

GO:0070533 BRCA1-C complex (IPI)
GO:0030870 Mre11 complex (IDA)
GO:0030870 Mre11 complex (IDA)
GO:0030870 Mre11 complex (IDA)
GO:0030870 Mre11 complex (IDA)
GO:0030870 Mre11 complex (IDA)
GO:0030870 Mre11 complex (TAS)
GO:0030870 Mre11 complex (IDA)
GO:0030870 Mre11 complex (IPI)
GO:0030870 Mre11 complex (IDA)

+ 114 more

Molecular function

GO:0008408 3'-5' exonuclease activity (IDA)
GO:0016887 ATP hydrolysis activity (IEA)
GO:0016887 ATP hydrolysis activity (IEA)
GO:0016887 ATP hydrolysis activity (IDA)
GO:0016887 ATP hydrolysis activity (IDA)
GO:0003677 DNA binding (IDA)
GO:0003678 DNA helicase activity (IMP)
GO:0051880 G-quadruplex DNA binding (IBA)
GO:0003691 double-stranded telomeric DNA binding (IBA)
GO:0042802 identical protein binding (IPI)

+ 10 more

Representative

Representative transcript
ENST00000378823

Representative protein
ENSP00000368100.4

Representative type
CCDS

Candidate count
1

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00000416135	RAD50-202	protein_coding	not available	ENSP00000389515.1	5:132,556,019 - 132,579,907 +
ENST00000998271	RAD50-218	nonsense_mediated_decay	not available	ENSP00000668088.1	5:132,556,922 - 132,609,333 +
ENST00001084875	RAD50-225	nonsense_mediated_decay	not available	ENSP00000754681.1	5:132,556,923 - 132,642,476 +
ENST00000651541	RAD50-212	protein_coding	not available	ENSP00000498795.1	5:132,556,930 - 132,591,985 +
ENST00000533482	RAD50-209	nonsense_mediated_decay	not available	ENSP00000431225.1	5:132,556,938 - 132,642,476 +
ENST00000998272	RAD50-219	nonsense_mediated_decay	not available	ENSP00000668089.1	5:132,556,940 - 132,609,342 +
ENST00000378823	RAD50-201	protein_coding	not available	ENSP00000368100.4	5:132,556,977 - 132,646,349 +
ENST00000918903	RAD50-217	protein_coding	not available	ENSP00000588962.1	5:132,556,977 - 132,646,349 +
ENST00000652016	RAD50-215	nonsense_mediated_decay	not available	ENSP00000498267.1	5:132,556,979 - 132,608,646 +
ENST00000998275	RAD50-222	nonsense_mediated_decay	not available	ENSP00000668092.1	5:132,556,979 - 132,594,910 +
ENST00001014596	RAD50-224	nonsense_mediated_decay	not available	ENSP00000684413.1	5:132,556,979 - 132,608,667 +
ENST00000651160	RAD50-210	nonsense_mediated_decay	not available	ENSP00000498829.1	5:132,556,981 - 132,609,341 +
ENST00000652485	RAD50-216	protein_coding	not available	ENSP00000498973.1	5:132,556,981 - 132,604,931 +
ENST00000998276	RAD50-223	nonsense_mediated_decay	not available	ENSP00000668093.1	5:132,556,981 - 132,594,901 +
ENST00000998273	RAD50-220	nonsense_mediated_decay	not available	ENSP00000668090.1	5:132,556,988 - 132,595,758 +
ENST00000998274	RAD50-221	nonsense_mediated_decay	not available	ENSP00000668091.1	5:132,556,997 - 132,595,759 +
ENST00000651723	RAD50-214	nonsense_mediated_decay	not available	ENSP00000498237.1	5:132,557,142 - 132,616,027 +
ENST00000423956	RAD50-203	nonsense_mediated_decay	not available	ENSP00000390971.1	5:132,557,231 - 132,609,339 +
ENST00000453394	RAD50-205	protein_coding	not available	ENSP00000400049.1	5:132,557,231 - 132,595,768 +
ENST00000651658	RAD50-213	retained_intron	not available	not available	5:132,557,257 - 132,604,034 +

FASTA

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.