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XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_022406 Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4), transcript variant 2, mRNA. Full Length $491.26
ORF Sequence $293.19
NM_003401 Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4), transcript variant 1, mRNA. Full Length $489.52
ORF Sequence $291.45
NM_022550 Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4), transcript variant 3, mRNA. Full Length $503.15
ORF Sequence $291.45


Gene Symbol XRCC4
Entrez Gene ID 7518
Full Name X-ray repair complementing defective repair in Chinese hamster cells 4
Synonyms
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5q14.2

Summary 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 break by non-homologous end joining and the completion of V(D)J recombination events. The non-homologous end-joining pathway is required both for normal development and for suppression of tumors. This gene functionally complements XR-1 Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaks produced by ionizing radiation and restriction enzymes. Alternative transcription initiation and alternative splicing generates several transcript variants. [provided by RefSeq].
Disorder

MIM: 194363

mRNA NM_022406, 196162693
Protein NP_071801, 12408647
Product DNA repair protein XRCC4 isoform 2
RefSeq Status REVIEWED
mRNA NM_003401, 196162694
Protein NP_003392, 4507945
Product DNA repair protein XRCC4 isoform 1
RefSeq Status REVIEWED
mRNA NM_022550, 196162695
Protein NP_072044, 12408649
Product DNA repair protein XRCC4 isoform 1
RefSeq Status REVIEWED
KEGG
hsa03450Non-homologous end-joining
Reactome
REACT_6185HIV Infection
REACT_90582-LTR circle formation
REACT_1022Nonhomologous End-joining (NHEJ)
REACT_6266Early Phase of HIV Life Cycle
REACT_2054Double-Strand Break Repair
REACT_216DNA Repair
REACT_6256HIV Life Cycle
REACT_6918Integration of provirus
Homo sapiens (human)XRCC4NP_071801.1
Pan troglodytes (chimpanzee)XRCC4XP_001148110.1
Canis lupus familiaris (dog)XRCC4XP_849518.1
Bos taurus (cattle)XRCC4NP_001075084.1
Mus musculus (house mouse)Xrcc4NP_082288.1
Rattus norvegicus (Norway rat)Xrcc4NP_001007000.1
Gallus gallus (chicken)XRCC4XP_424905.2
Danio rerio (zebrafish)xrcc4NP_957080.1
Process
IDNameEvidence
GO:0001701in utero embryonic developmentIEA
GO:0002328pro-B cell differentiationIEA
GO:0006281DNA repairTAS
GO:0006302double-strand break repairIDA
GO:0006302double-strand break repairTAS
GO:0006303double-strand break repair via nonhomologous end joiningIDA
GO:0006303double-strand break repair via nonhomologous end joiningIMP
GO:0006303double-strand break repair via nonhomologous end joiningNAS
GO:0006303double-strand break repair via nonhomologous end joiningTAS
GO:0007417central nervous system developmentIEA
GO:0010165response to X-rayIDA
GO:0010332response to gamma radiationIEA
GO:0016032viral reproductionTAS
GO:0019047provirus integrationEXP
GO:0019059initiation of viral infectionEXP
GO:0033077T cell differentiation in thymusIEA
GO:0033152immunoglobulin V(D)J recombinationIEA
GO:0043524negative regulation of neuron apoptosisIEA
GO:0045190isotype switchingIEA
GO:0048146positive regulation of fibroblast proliferationIEA
GO:0050769positive regulation of neurogenesisIEA
GO:0051103DNA ligation involved in DNA repairIDA
GO:0051351positive regulation of ligase activityIDA
GO:0071285cellular response to lithium ionIEA
Component
IDNameEvidence
GO:0000793condensed chromosomeIDA
GO:0005634nucleusIDA
GO:0005634nucleusNAS
GO:0005654nucleoplasmTAS
GO:0005829cytosolIDA
GO:0005958DNA-dependent protein kinase-DNA ligase 4 complexIDA
GO:0032807DNA ligase IV complexIDA
GO:0070419nonhomologous end joining complexIDA
Function
IDNameEvidence
GO:0003677DNA bindingIDA
GO:0005515protein bindingIPI
GO:0008022protein C-terminus bindingIPI
GO:0016874ligase activityIDA
GeneCards XRCC4
PDB 3II6, 3MUD, 1IK9, 1FU1
UniProt Q13426, Q7Z763
MIM 194363
Ensembl ENSG00000152422
HGNC 12831
HPRD 15951

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