• Gene id: 2547

Gene Summary

• Gene Symbol: XRCC6   Gene   UCSC   Ensembl
• Aliases: CTC75, CTCBF, G22P1, KU70, ML8, TLAA
• Gene name: X-ray repair cross complementing 6
• Alternate names: X-ray repair cross-complementing protein 6, 5'-dRP lyase Ku70, 5'-deoxyribose-5-phosphate lyase Ku70, 70 kDa subunit of Ku antigen, ATP-dependent DNA helicase 2 subunit 1, ATP-dependent DNA helicase II, 70 kDa subunit, CTC box binding factor 75 kDa subunit, DNA ,
• Gene location: 22q13.2 (41621162: 41664047)     Exons: 13     NC_000022.11
• Gene summary(Entrez): The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of non
• OMIM: 152690

SNPs

rs2267437

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.41620695C>A
NC_000022.11   g.41620695C>G
NC_000022.10   g.42016699C>A
NC_000022.10   g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6
DESI1   27351

Protein Summary

• Protein general information: P12956  
  • Name: X ray repair cross complementing protein 6 (EC 3.6.4. ) (EC 4.2.99. ) (5' deoxyribose 5 phosphate lyase Ku70) (5' dRP lyase Ku70) (70 kDa subunit of Ku antigen) (ATP dependent DNA helicase 2 subunit 1) (ATP dependent DNA helicase II 70 kDa subunit) (CTC b
  • Length: 609  
  • Mass: 69843
• Sequence:

  MSGWESYYKTEGDEEAEEEQEENLEASGDYKYSGRDSLIFLVDASKAMFESQSEDELTPFDMSIQCIQSVYISKI
  ISSDRDLLAVVFYGTEKDKNSVNFKNIYVLQELDNPGAKRILELDQFKGQQGQKRFQDMMGHGSDYSLSEVLWVC
  ANLFSDVQFKMSHKRIMLFTNEDNPHGNDSAKASRARTKAGDLRDTGIFLDLMHLKKPGGFDISLFYRDIISIAE
  DEDLRVHFEESSKLEDLLRKVRAKETRKRALSRLKLKLNKDIVISVGIYNLVQKALKPPPIKLYRETNEPVKTKT
  RTFNTSTGGLLLPSDTKRSQIYGSRQIILEKEETEELKRFDDPGLMLMGFKPLVLLKKHHYLRPSLFVYPEESLV
  IGSSTLFSALLIKCLEKEVAALCRYTPRRNIPPYFVALVPQEEELDDQKIQVTPPGFQLVFLPFADDKRKMPFTE
  KIMATPEQVGKMKAIVEKLRFTYRSDSFENPVLQQHFRNLEALALDLMEPEQAVDLTLPKVEAMNKRLGSLVDEF
  KELVYPPDYNPEGKVTKRKHDNEGSGSKRPKVEYSEEELKTHISKGTLGKFTVPMLKEACRAYGLKSGLKKQELL
  EALTKHFQD

• Structural information:
  • Protein Domains: (261..46-)
    (/note="Ku-)
    (573..60-)
    (/note="SAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00186"-)
  • Interpro: IPR006165  IPR006164  IPR027388  IPR005160  IPR005161   IPR003034  IPR036361  IPR016194  IPR036465  
  • Prosite: PS50800
  • PDB: 1JEQ 1JEY 1JJR 3RZX 5Y3R 6ERF 6ERG 6ERH
  • PDBsum: 1JEQ 1JEY 1JJR 3RZX 5Y3R 6ERF 6ERG 6ERH
  • DIP: 24188
  • STRING: ENSP00000352257
• Other Databases: GeneCards:  XRCC6  Malacards:  XRCC6

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:0005730	nucleolus	IDA	cellular component
GO:0071480	cellular response to gamma radiation	IDA	biological process
GO:0070419	nonhomologous end joining complex	IDA	cellular component
GO:0002218	activation of innate immune response	IDA	biological process
GO:0043564	Ku70:Ku80 complex	IDA	cellular component
GO:0051575	5'-deoxyribose-5-phosphate lyase activity	IMP	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
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:0006303	double-strand break repair via nonhomologous end joining	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: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:0003677	DNA binding	IEA	molecular function
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0042162	telomeric DNA binding	IEA	molecular function
GO:0043564	Ku70:Ku80 complex	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0006310	DNA recombination	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003690	double-stranded DNA binding	TAS	molecular function
GO:0003678	DNA helicase activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006266	DNA ligation	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032481	positive regulation of type I interferon production	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
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: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:0032991	protein-containing complex	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0071475	cellular hyperosmotic salinity response	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043564	Ku70:Ku80 complex	IDA	cellular component
GO:0097680	double-strand break repair via classical nonhomologous end joining	IDA	biological process
GO:0000723	telomere maintenance	TAS	biological process
GO:0000723	telomere maintenance	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:0044877	protein-containing complex 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:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003691	double-stranded telomeric DNA binding	IDA	contributes to
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	TAS	biological process
GO:0000783	nuclear telomere cap complex	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	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:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0008022	protein C-terminus 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:0003677	DNA binding	NAS	molecular function
GO:0030332	cyclin binding	IPI	molecular function
GO:0045621	positive regulation of lymphocyte differentiation	ISS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	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
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