• Gene id: 7518

Gene Summary

• Gene Symbol: XRCC4   Gene   UCSC   Ensembl
• Aliases: SSMED
• Gene name: X-ray repair cross complementing 4
• Alternate names: DNA repair protein XRCC4, X-ray repair complementing defective repair in Chinese hamster cells 4,
• Gene location: 5q14.2 (83077408: 83370332)     Exons: 13     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination.
• OMIM: 602713

Protein Summary

• Protein general information: Q13426  
  • Name: DNA repair protein XRCC4 (X ray repair cross complementing protein 4)
  • Length: 336  
  • Mass: 38287
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALL
  SGAGPADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENER
  LLRDWNDVQGRFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADR
  DPVYDESTDEESENQTDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKENSR
  PDSSLPETSKKEHISAENMSLETLRNSSPEDLFDEI

• Structural information:
  • Interpro: IPR010585  IPR009089  
  • PDB: 1FU1 1IK9 3II6 3MUD 3Q4F 3RWR 3SR2 3W03 4XA4 5CHX 5CJ0 5CJ4 5E50 5WJ7 5WLZ 6ABO
  • PDBsum: 1FU1 1IK9 3II6 3MUD 3Q4F 3RWR 3SR2 3W03 4XA4 5CHX 5CJ0 5CJ4 5E50 5WJ7 5WLZ 6ABO
  • DIP: 37957
  • STRING: ENSP00000421491
• Other Databases: GeneCards:  XRCC4  Malacards:  XRCC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051103	DNA ligation involved in DNA repair	IBA	biological process
GO:0005958	DNA-dependent protein kinase-DNA ligase 4 complex	IBA	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	IBA	biological process
GO:0010165	response to X-ray	IBA	biological process
GO:0032807	DNA ligase IV complex	IBA	cellular component
GO:0033152	immunoglobulin V(D)J recombination	IBA	biological process
GO:0051351	positive regulation of ligase activity	IBA	biological process
GO:0070419	nonhomologous end joining complex	IDA	cellular component
GO:0070419	nonhomologous end joining complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006302	double-strand break repair	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005958	DNA-dependent protein kinase-DNA ligase 4 complex	IDA	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:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0075713	establishment of integrated proviral latency	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0071285	cellular response to lithium ion	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0051351	positive regulation of ligase activity	IDA	biological process
GO:0051103	DNA ligation involved in DNA repair	IDA	biological process
GO:0016874	ligase activity	IDA	NOT|molecular function
GO:0006302	double-strand break repair	IDA	biological process
GO:0003677	DNA binding	IDA	NOT|molecular function
GO:0000793	condensed chromosome	IDA	NOT|cellular component
GO:0032807	DNA ligase IV complex	IDA	cellular component
GO:0010165	response to X-ray	IDA	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03450	Non-homologous end-joining

Diseases

Associated diseases	References
multiple myeloma	PMID:17901044
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray