XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 [Homo sapiens (human)]
| 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 |
| hsa03450 | Non-homologous end-joining |
Reactome
| REACT_6185 | HIV Infection |
| REACT_9058 | 2-LTR circle formation |
| REACT_1022 | Nonhomologous End-joining (NHEJ) |
| REACT_6266 | Early Phase of HIV Life Cycle |
| REACT_2054 | Double-Strand Break Repair |
| REACT_216 | DNA Repair |
| REACT_6256 | HIV Life Cycle |
| REACT_6918 | Integration of provirus |
| Homo sapiens (human) | XRCC4 | NP_071801.1 |
| Pan troglodytes (chimpanzee) | XRCC4 | XP_001148110.1 |
| Canis lupus familiaris (dog) | XRCC4 | XP_849518.1 |
| Bos taurus (cattle) | XRCC4 | NP_001075084.1 |
| Mus musculus (house mouse) | Xrcc4 | NP_082288.1 |
| Rattus norvegicus (Norway rat) | Xrcc4 | NP_001007000.1 |
| Gallus gallus (chicken) | XRCC4 | XP_424905.2 |
| Danio rerio (zebrafish) | xrcc4 | NP_957080.1 |
| ID | Name | Evidence |
| GO:0001701 | in utero embryonic development | IEA |
| GO:0002328 | pro-B cell differentiation | IEA |
| GO:0006281 | DNA repair | TAS |
| GO:0006302 | double-strand break repair | IDA |
| GO:0006302 | double-strand break repair | TAS |
| GO:0006303 | double-strand break repair via nonhomologous end joining | IDA |
| GO:0006303 | double-strand break repair via nonhomologous end joining | IMP |
| GO:0006303 | double-strand break repair via nonhomologous end joining | NAS |
| GO:0006303 | double-strand break repair via nonhomologous end joining | TAS |
| GO:0007417 | central nervous system development | IEA |
| GO:0010165 | response to X-ray | IDA |
| GO:0010332 | response to gamma radiation | IEA |
| GO:0016032 | viral reproduction | TAS |
| GO:0019047 | provirus integration | EXP |
| GO:0019059 | initiation of viral infection | EXP |
| GO:0033077 | T cell differentiation in thymus | IEA |
| GO:0033152 | immunoglobulin V(D)J recombination | IEA |
| GO:0043524 | negative regulation of neuron apoptosis | IEA |
| GO:0045190 | isotype switching | IEA |
| GO:0048146 | positive regulation of fibroblast proliferation | IEA |
| GO:0050769 | positive regulation of neurogenesis | IEA |
| GO:0051103 | DNA ligation involved in DNA repair | IDA |
| GO:0051351 | positive regulation of ligase activity | IDA |
| GO:0071285 | cellular response to lithium ion | IEA |
Component
| ID | Name | Evidence |
| GO:0000793 | condensed chromosome | IDA |
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | NAS |
| GO:0005654 | nucleoplasm | TAS |
| GO:0005829 | cytosol | IDA |
| GO:0005958 | DNA-dependent protein kinase-DNA ligase 4 complex | IDA |
| GO:0032807 | DNA ligase IV complex | IDA |
| GO:0070419 | nonhomologous end joining complex | IDA |
Function
| ID | Name | Evidence |
| GO:0003677 | DNA binding | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0008022 | protein C-terminus binding | IPI |
| GO:0016874 | ligase activity | IDA |
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