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Gene id

7518

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]

OMIM

194363

Protein Summary

Protein general information

Q13426

Name: DNA repair protein XRCC4 (X ray repair cross complementing protein 4)

Length: 336 Mass: 38,287

Tissue specificity: Widely expressed. {ECO

Sequence

MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALL
SGAGPADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENER
LLRDWNDVQGRFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADR
DPVYDESTDEESENQTDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKENSR
PDSSLPETSKKEHISAENMSLETLRNSSPEDLFDEI

Structural information

Interpro:	IPR010585 IPR009089
Pfam:	PF06632
PDB:	1FU1 1IK9 3II6 3MUD 3Q4F 3RWR 3SR2 3W03 4XA4 5CHX 5CJ0 5CJ4 5E50
PDBsum:	1FU1 1IK9 3II6 3MUD 3Q4F 3RWR 3SR2 3W03 4XA4 5CHX 5CJ0 5CJ4 5E50
DIP:	37957
MINT:	1205583
STRING:	ENSP00000342011;

Other Databases

GeneCards: XRCC4; Malacards: XRCC4

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	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:0005813	centrosome	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0005958	DNA-dependent protein kin ase-DNA ligase 4 complex	IDA	cellular_component
GO:0006302	double-strand break repai r	IDA	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	IDA	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	NAS	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	IMP	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	TAS	biological_process
GO:0006310	DNA recombination	IEA	biological_process
GO:0008022	protein C-terminus bindin g	IPI	molecular_function
GO:0010165	response to X-ray	IDA	biological_process
GO:0016925	protein sumoylation	TAS	biological_process
GO:0030054	cell junction	IDA	cellular_component
GO:0032807	DNA ligase IV complex	IDA	cellular_component
GO:0051103	DNA ligation involved in DNA repair	IDA	biological_process
GO:0051351	positive regulation of li gase activity	IDA	biological_process
GO:0070419	nonhomologous end joining complex	IDA	cellular_component
GO:0070419	nonhomologous end joining complex	IDA	cellular_component
GO:0071285	cellular response to lith ium ion	IEA	biological_process
GO:0075713	establishment of integrat ed proviral latency	TAS	biological_process
GO:0000793	condensed chromosome	IDA	cellular_component
GO:0003677	DNA binding	IDA	molecular_function
GO:0016874	ligase activity	IDA	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:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	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:0005813	centrosome	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0005958	DNA-dependent protein kin ase-DNA ligase 4 complex	IDA	cellular_component
GO:0006281	DNA repair	IEA	biological_process
GO:0006302	double-strand break repai r	IEA	biological_process
GO:0006302	double-strand break repai r	IDA	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	IDA	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	NAS	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	IMP	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	TAS	biological_process
GO:0006310	DNA recombination	IEA	biological_process
GO:0006310	DNA recombination	IEA	biological_process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological_process
GO:0008022	protein C-terminus bindin g	IPI	molecular_function
GO:0010165	response to X-ray	IDA	biological_process
GO:0016925	protein sumoylation	TAS	biological_process
GO:0030054	cell junction	IDA	cellular_component
GO:0032807	DNA ligase IV complex	IDA	cellular_component
GO:0051103	DNA ligation involved in DNA repair	IDA	biological_process
GO:0051351	positive regulation of li gase activity	IDA	biological_process
GO:0070419	nonhomologous end joining complex	IDA	cellular_component
GO:0070419	nonhomologous end joining complex	IDA	cellular_component
GO:0071285	cellular response to lith ium ion	IEA	biological_process
GO:0075713	establishment of integrat ed proviral latency	TAS	biological_process
GO:0000793	condensed chromosome	IDA	cellular_component
GO:0003677	DNA binding	IDA	molecular_function
GO:0016874	ligase activity	IDA	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:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	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:0005813	centrosome	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0005958	DNA-dependent protein kin ase-DNA ligase 4 complex	IDA	cellular_component
GO:0006302	double-strand break repai r	IDA	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	IDA	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	NAS	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	IMP	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	TAS	biological_process
GO:0008022	protein C-terminus bindin g	IPI	molecular_function
GO:0010165	response to X-ray	IDA	biological_process
GO:0016925	protein sumoylation	TAS	biological_process
GO:0030054	cell junction	IDA	cellular_component
GO:0032807	DNA ligase IV complex	IDA	cellular_component
GO:0051103	DNA ligation involved in DNA repair	IDA	biological_process
GO:0051351	positive regulation of li gase activity	IDA	biological_process
GO:0070419	nonhomologous end joining complex	IDA	cellular_component
GO:0070419	nonhomologous end joining complex	IDA	cellular_component
GO:0075713	establishment of integrat ed proviral latency	TAS	biological_process
GO:0000793	condensed chromosome	IDA	cellular_component
GO:0003677	DNA binding	IDA	molecular_function
GO:0016874	ligase activity	IDA	molecular_function

KEGG pathways

hsa03450 Non-homologous end-joining

Diseases

Associated diseases	References
Cancer	PMID: 12750264
Endocrine dysfunction	OMIM: 194363
Endometriosis	PMID: 26088159
Leiomyoma	PMID: 18177646
Endometriosis	INFBASE18246529

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26088159	Endometrio sis	XRCC4 -1394T/G, codon 247 and intron 3 insertion/deletion variations,	Iranian	334 (160 patien ts with endomet riosis (stages I-IV), 174 heal thy women)		XRCC1 XRCC4	Show abstract
18246529	Endometrio sis	XRCC4 (codon 247A, promoter -1394T, intron 3 I/D polymorphism)		248 (136 severe endometriosis, 112 nonendomet riosis groups)		XRCC4	Show abstract