• Gene id: 10111

Gene Summary

• Gene Symbol: RAD50   Gene   UCSC   Ensembl
• Aliases: NBSLD, RAD502, hRad50
• Gene name: RAD50 double strand break repair protein
• Alternate names: DNA repair protein RAD50, RAD50 homolog, double strand break repair protein,
• Gene location: 5q31.1 (132556976: 132646348)     Exons: 25     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 604040

Protein Summary

• Protein general information: Q92878  
  • Name: DNA repair protein RAD50 (hRAD50) (EC 3.6. . )
  • Length: 1312  
  • Mass: 153892
  • Tissue specificity: Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts. {ECO
• Sequence:

  MSRIEKMSILGVRSFGIEDKDKQIITFFSPLTILVGPNGAGKTTIIECLKYICTGDFPPGTKGNTFVHDPKVAQE
  TDVRAQIRLQFRDVNGELIAVQRSMVCTQKSKKTEFKTLEGVITRTKHGEKVSLSSKCAEIDREMISSLGVSKAV
  LNNVIFCHQEDSNWPLSEGKALKQKFDEIFSATRYIKALETLRQVRQTQGQKVKEYQMELKYLKQYKEKACEIRD
  QITSKEAQLTSSKEIVKSYENELDPLKNRLKEIEHNLSKIMKLDNEIKALDSRKKQMEKDNSELEEKMEKVFQGT
  DEQLNDLYHNHQRTVREKERKLVDCHRELEKLNKESRLLNQEKSELLVEQGRLQLQADRHQEHIRARDSLIQSLA
  TQLELDGFERGPFSERQIKNFHKLVRERQEGEAKTANQLMNDFAEKETLKQKQIDEIRDKKTGLGRIIELKSEIL
  SKKQNELKNVKYELQQLEGSSDRILELDQELIKAERELSKAEKNSNVETLKMEVISLQNEKADLDRTLRKLDQEM
  EQLNHHTTTRTQMEMLTKDKADKDEQIRKIKSRHSDELTSLLGYFPNKKQLEDWLHSKSKEINQTRDRLAKLNKE
  LASSEQNKNHINNELKRKEEQLSSYEDKLFDVCGSQDFESDLDRLKEEIEKSSKQRAMLAGATAVYSQFITQLTD
  ENQSCCPVCQRVFQTEAELQEVISDLQSKLRLAPDKLKSTESELKKKEKRRDEMLGLVPMRQSIIDLKEKEIPEL
  RNKLQNVNRDIQRLKNDIEEQETLLGTIMPEEESAKVCLTDVTIMERFQMELKDVERKIAQQAAKLQGIDLDRTV
  QQVNQEKQEKQHKLDTVSSKIELNRKLIQDQQEQIQHLKSTTNELKSEKLQISTNLQRRQQLEEQTVELSTEVQS
  LYREIKDAKEQVSPLETTLEKFQQEKEELINKKNTSNKIAQDKLNDIKEKVKNIHGYMKDIENYIQDGKDDYKKQ
  KETELNKVIAQLSECEKHKEKINEDMRLMRQDIDTQKIQERWLQDNLTLRKRNEELKEVEEERKQHLKEMGQMQV
  LQMKSEHQKLEENIDNIKRNHNLALGRQKGYEEEIIHFKKELREPQFRDAEEKYREMMIVMRTTELVNKDLDIYY
  KTLDQAIMKFHSMKMEEINKIIRDLWRSTYRGQDIEYIEIRSDADENVSASDKRRNYNYRVVMLKGDTALDMRGR
  CSAGQKVLASLIIRLALAETFCLNCGIIALDEPTTNLDRENIESLAHALVEIIKSRSQQRNFQLLVITHDEDFVE
  LLGRSEYVEKFYRIKKNIDQCSEIVKCSVSSLGFNVH

• Structural information:
  • Protein Domains: (635..73-)
    (/note="Zinc-hook-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00471"-)
  • Interpro: IPR027417  IPR038729  IPR004584  IPR013134  
  • Prosite: PS51131
  • PDB: 5GOX
  • PDBsum: 5GOX
  • DIP: 33606
  • STRING: ENSP00000368100
• Other Databases: GeneCards:  RAD50  Malacards:  RAD50

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0000794	condensed nuclear chromosome	IBA	cellular component
GO:0003678	DNA helicase activity	IBA	contributes to
GO:0007004	telomere maintenance via telomerase	IBA	biological process
GO:0016233	telomere capping	IBA	biological process
GO:0032508	DNA duplex unwinding	IBA	biological process
GO:0070192	chromosome organization involved in meiotic cell cycle	IBA	biological process
GO:0000014	single-stranded DNA endodeoxyribonuclease activity	IBA	contributes to
GO:0000722	telomere maintenance via recombination	IBA	biological process
GO:0000784	nuclear chromosome, telomeric region	IBA	cellular component
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0003691	double-stranded telomeric DNA binding	IBA	molecular function
GO:0004017	adenylate kinase activity	IBA	molecular function
GO:0008408	3'-5' exonuclease activity	IBA	contributes to
GO:0030870	Mre11 complex	IBA	cellular component
GO:0035861	site of double-strand break	IBA	cellular component
GO:0043047	single-stranded telomeric DNA binding	IBA	molecular function
GO:0051880	G-quadruplex DNA binding	IBA	molecular function
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IBA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000723	telomere maintenance	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0030870	Mre11 complex	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0006302	double-strand break repair	TAS	biological process
GO:0007131	reciprocal meiotic recombination	TAS	biological process
GO:0030870	Mre11 complex	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0000724	double-strand break repair via homologous recombination	TAS	biological process
GO:0000729	DNA double-strand break processing	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000784	nuclear chromosome, telomeric region	IDA	colocalizes with
GO:0032206	positive regulation of telomere maintenance	IMP	biological process
GO:1904354	negative regulation of telomere capping	IDA	biological process
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0003678	DNA helicase activity	IMP	contributes to
GO:0031860	telomeric 3' overhang formation	IMP	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0031954	positive regulation of protein autophosphorylation	IDA	biological process
GO:0033674	positive regulation of kinase activity	IDA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0000723	telomere maintenance	TAS	biological process
GO:0032508	DNA duplex unwinding	IMP	biological process
GO:0030870	Mre11 complex	TAS	cellular component
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0030674	protein-macromolecule adaptor activity	IDA	molecular function
GO:0008408	3'-5' exonuclease activity	IDA	contributes to
GO:0006310	DNA recombination	IDA	biological process
GO:0000019	regulation of mitotic recombination	IDA	biological process
GO:0000014	single-stranded DNA endodeoxyribonuclease activity	IDA	contributes to
GO:0030870	Mre11 complex	IDA	cellular component
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0006281	DNA repair	IDA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0006302	double-strand break repair	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04218	Cellular senescence
hsa03440	Homologous recombination
hsa03450	Non-homologous end-joining

Diseases

Associated diseases	References
Nijmegen syndrome	KEGG:H01344
Nijmegen syndrome	KEGG:H01344
Transitional cell carcinoma	PMID:16288216
invasive ductal carcinoma	PMID:14511253
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881