XRCC4 (X-ray repair cross complementing 4)

2003-02-01  

Identity

HGNC
LOCATION
5q14.2
LOCUSID
ALIAS
SSMED
FUSION GENES

Other Information

Locus ID:

NCBI: 7518
MIM: 194363
HGNC: 12831
Ensembl: ENSG00000152422

Variants:

dbSNP: 7518
ClinVar: 7518
TCGA: ENSG00000152422
COSMIC: XRCC4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152422ENST00000282268Q13426
ENSG00000152422ENST00000282268A0A024RAL0
ENSG00000152422ENST00000338635Q13426
ENSG00000152422ENST00000338635A0A024RAQ8
ENSG00000152422ENST00000396027Q13426
ENSG00000152422ENST00000396027A0A024RAL0
ENSG00000152422ENST00000511817Q13426
ENSG00000152422ENST00000511817A0A024RAQ8

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Non-homologous end-joiningKEGGko03450
Non-homologous end-joiningKEGGhsa03450
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Early Phase of HIV Life CycleREACTOMER-HSA-162594
Integration of provirusREACTOMER-HSA-162592
2-LTR circle formationREACTOMER-HSA-164843
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPD28796378
PA164713176Platinum compoundsChemicalClinicalAnnotationassociatedPD28796378
PA166122986radiotherapyChemicalClinicalAnnotationassociatedPD28796378
PA29116H2AFXGenePathwayassociated
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPKPD20157331
PA445742Stomach NeoplasmsDiseaseClinicalAnnotationassociatedPD28796378
PA449383docetaxelChemicalClinicalAnnotationassociatedPKPD20157331

References

Pubmed IDYearTitleCitations
171241662006Dynamic assembly of end-joining complexes requires interaction between Ku70/80 and XRCC4.139
252014142014Chromosomal translocations in human cells are generated by canonical nonhomologous end-joining.121
117020692001Crystal structure of an Xrcc4-DNA ligase IV complex.86
157461602005Constitutional short telomeres are strong genetic susceptibility markers for bladder cancer.83
145617662004Implication of DNA polymerase lambda in alignment-based gap filling for nonhomologous DNA end joining in human nuclear extracts.82
213537812011Tidying up loose ends: the role of polynucleotide kinase/phosphatase in DNA strand break repair.74
217754352011XRCC4 protein interactions with XRCC4-like factor (XLF) create an extended grooved scaffold for DNA ligation and double strand break repair.72
181589052007Crystal structure of human XLF: a twist in nonhomologous DNA end-joining.68
172902262007XRCC4:DNA ligase IV can ligate incompatible DNA ends and can ligate across gaps.65
176066312007Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination.64

Citation

Dessen P

XRCC4 (X-ray repair cross complementing 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/336/xrcc4