• Gene id: 7520

Gene Summary

• Gene Symbol: XRCC5   Gene   UCSC   Ensembl
• Aliases: KARP-1, KARP1, KU80, KUB2, Ku86, NFIV
• Gene name: X-ray repair cross complementing 5
• Alternate names: X-ray repair cross-complementing protein 5, 86 kDa subunit of Ku antigen, ATP-dependent DNA helicase 2 subunit 2, ATP-dependent DNA helicase II 80 kDa subunit, CTC box-binding factor 85 kDa subunit, CTC85, CTCBF, DNA repair protein XRCC5, Ku autoantigen, 80kDa, Ku,
• Gene location: 2q35 (216109347: 216206292)     Exons: 21     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it funct
• OMIM: 194364

Protein Summary

• Protein general information: P13010  
  • Name: X ray repair cross complementing protein 5 (EC 3.6.4. ) (86 kDa subunit of Ku antigen) (ATP dependent DNA helicase 2 subunit 2) (ATP dependent DNA helicase II 80 kDa subunit) (CTC box binding factor 85 kDa subunit) (CTC85) (CTCBF) (DNA repair protein XRCC
  • Length: 732  
  • Mass: 82705
• Sequence:

  MVRSGNKAAVVLCMDVGFTMSNSIPGIESPFEQAKKVITMFVQRQVFAENKDEIALVLFGTDGTDNPLSGGDQYQ
  NITVHRHLMLPDFDLLEDIESKIQPGSQQADFLDALIVSMDVIQHETIGKKFEKRHIEIFTDLSSRFSKSQLDII
  IHSLKKCDISLQFFLPFSLGKEDGSGDRGDGPFRLGGHGPSFPLKGITEQQKEGLEIVKMVMISLEGEDGLDEIY
  SFSESLRKLCVFKKIERHSIHWPCRLTIGSNLSIRIAAYKSILQERVKKTWTVVDAKTLKKEDIQKETVYCLNDD
  DETEVLKEDIIQGFRYGSDIVPFSKVDEEQMKYKSEGKCFSVLGFCKSSQVQRRFFMGNQVLKVFAARDDEAAAV
  ALSSLIHALDDLDMVAIVRYAYDKRANPQVGVAFPHIKHNYECLVYVQLPFMEDLRQYMFSSLKNSKKYAPTEAQ
  LNAVDALIDSMSLAKKDEKTDTLEDLFPTTKIPNPRFQRLFQCLLHRALHPREPLPPIQQHIWNMLNPPAEVTTK
  SQIPLSKIKTLFPLIEAKKKDQVTAQEIFQDNHEDGPTAKKLKTEQGGAHFSVSSLAEGSVTSVGSVNPAENFRV
  LVKQKKASFEEASNQLINHIEQFLDTNETPYFMKSIDCIRAFREEAIKFSEEQRFNNFLKALQEKVEIKQLNHFW
  EIVVQDGITLITKEEASGSSVTAEEAKKFLAPKDKPSGDTAAVFEEGGDVDDLLDMI

• Structural information:
  • Protein Domains: (251..46-)
    (/note="Ku"-)
  • Interpro: IPR006164  IPR024193  IPR005160  IPR036494  IPR005161   IPR014893  IPR016194  IPR002035  IPR036465  
  • CDD: cd00873
  • PDB: 1JEQ 1JEY 1Q2Z 1RW2 3RZ9 5Y3R 6ERF 6ERG 6ERH
  • PDBsum: 1JEQ 1JEY 1Q2Z 1RW2 3RZ9 5Y3R 6ERF 6ERG 6ERH
  • DIP: 31379
  • STRING: ENSP00000375978
• Other Databases: GeneCards:  XRCC5  Malacards:  XRCC5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000723	telomere maintenance	IBA	biological process
GO:0003690	double-stranded DNA binding	IBA	contributes to
GO:0006303	double-strand break repair via nonhomologous end joining	IBA	biological process
GO:0071480	cellular response to gamma radiation	IBA	biological process
GO:0071481	cellular response to X-ray	IBA	biological process
GO:0000784	nuclear chromosome, telomeric region	IBA	cellular component
GO:0042162	telomeric DNA binding	IBA	molecular function
GO:0043564	Ku70:Ku80 complex	IBA	cellular component
GO:0070419	nonhomologous end joining complex	IDA	cellular component
GO:0043564	Ku70:Ku80 complex	IDA	cellular component
GO:1990904	ribonucleoprotein complex	IDA	cellular component
GO:0071480	cellular response to gamma radiation	IDA	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IDA	biological process
GO:0070419	nonhomologous end joining complex	IDA	cellular component
GO:0002218	activation of innate immune response	IDA	biological process
GO:0003723	RNA binding	IDA	molecular function
GO:0043564	Ku70:Ku80 complex	IDA	cellular component
GO:0051575	5'-deoxyribose-5-phosphate lyase activity	IMP	contributes to
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0048660	regulation of smooth muscle cell proliferation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0003678	DNA helicase activity	IEA	molecular function
GO:0006303	double-strand break repair via nonhomologous end joining	IEA	biological process
GO:0016817	hydrolase activity, acting on acid anhydrides	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006310	DNA recombination	IEA	biological process
GO:0042162	telomeric DNA binding	IEA	molecular function
GO:0043564	Ku70:Ku80 complex	IEA	cellular component
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006310	DNA recombination	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0003690	double-stranded DNA binding	TAS	molecular function
GO:0003678	DNA helicase activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006302	double-strand break repair	TAS	biological process
GO:0006310	DNA recombination	TAS	biological process
GO:0032481	positive regulation of type I interferon production	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	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:0005829	cytosol	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0075713	establishment of integrated proviral latency	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071481	cellular response to X-ray	IEA	biological process
GO:0071398	cellular response to fatty acid	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0050769	positive regulation of neurogenesis	IEA	biological process
GO:0071475	cellular hyperosmotic salinity response	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0060218	hematopoietic stem cell differentiation	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0006302	double-strand break repair	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043564	Ku70:Ku80 complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0032204	regulation of telomere maintenance	TAS	biological process
GO:0032204	regulation of telomere maintenance	TAS	biological process
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042162	telomeric DNA binding	TAS	molecular function
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0006302	double-strand break repair	IMP	biological process
GO:1904430	negative regulation of t-circle formation	IMP	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003691	double-stranded telomeric DNA binding	IDA	contributes to
GO:0042162	telomeric DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008047	enzyme activator activity	TAS	molecular function
GO:0000783	nuclear telomere cap complex	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0032212	positive regulation of telomere maintenance via telomerase	IMP	biological process
GO:0032204	regulation of telomere maintenance	TAS	biological process
GO:0043564	Ku70:Ku80 complex	TAS	cellular component
GO:0070198	protein localization to chromosome, telomeric region	TAS	biological process
GO:0051973	positive regulation of telomerase activity	TAS	biological process
GO:0043085	positive regulation of catalytic activity	TAS	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0045860	positive regulation of protein kinase activity	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0034511	U3 snoRNA binding	IDA	molecular function
GO:0045027	DNA end binding	IDA	molecular function
GO:0034462	small-subunit processome assembly	IDA	biological process
GO:0032040	small-subunit processome	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0090734	site of DNA damage	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03450	Non-homologous end-joining

Diseases

Associated diseases	References
Squamous cell carcinoma	PMID:16497868
basal cell carcinoma	PMID:16497868
Chronic obstructive pulmonary disease	PMID:20463177
multiple myeloma	PMID:17901044
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq