Xrcc4 X-ray repair complementing defective repair in Chinese hamster cells 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Xrcc4provided by MGI
Official Full Name: X-ray repair complementing defective repair in Chinese hamster cells 4provided by MGI
Primary source: MGI:MGI:1333799
See related: Ensembl:ENSMUSG00000021615 AllianceGenome:MGI:1333799
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 2310057B22Rik
Summary: Contributes to 3' overhang single-stranded DNA endodeoxyribonuclease activity. Involved in double-strand break repair via nonhomologous end joining; negative regulation of protection from non-homologous end joining at telomere; and telomeric DNA-containing double minutes formation. Acts upstream of or within several processes, including DNA metabolic process; hemopoiesis; and response to X-ray. Located in chromosome, telomeric region. Part of DNA-dependent protein kinase-DNA ligase 4 complex and ERCC4-ERCC1 complex. Is expressed in head; heart; and trunk. Human ortholog(s) of this gene implicated in multiple myeloma; salivary gland adenoid cystic carcinoma; and salivary gland carcinoma. Orthologous to human XRCC4 (X-ray repair cross complementing 4). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis adult (RPKM 2.8), placenta adult (RPKM 2.8) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 C3; 13 45.5 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (89997033..90237727, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (89848914..90089608, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development.
Title: An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development.
Caspase cleavage releases a nuclear protein fragment that stimulates phospholipid scrambling at the plasma membrane.
Title: Caspase cleavage releases a nuclear protein fragment that stimulates phospholipid scrambling at the plasma membrane.
XRCC4, which is inhibited by PFDA, regulates DNA damage repair and cell chemosensitivity.
Title: XRCC4, which is inhibited by PFDA, regulates DNA damage repair and cell chemosensitivity.
This damaging phenotype highlights the functional nexus between Xlf and Xrcc4, which is critical for the completion of NHEJ-dependent mechanisms during mouse development.
Title: PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice.
These data imply that the level of XRCC4 expression could be used to predict the effects of apoptosis-inducing drugs in cancer treatment.
Title: Caspase-mediated cleavage of X-ray repair cross-complementing group 4 promotes apoptosis by enhancing nuclear translocation of caspase-activated DNase.
involvement of ZNF281 in the cellular response to genotoxic stress through the control exercised on the expression of genes that act in different repair mechanisms
Title: ZNF281 contributes to the DNA damage response by controlling the expression of XRCC2 and XRCC4.
We find that non-canonical HR termination can occur in the absence of the classical non-homologous end joining gene XRCC4. We observe obligatory use of microhomology (MH)-mediated end joining and/or nucleotide addition during rejoining with the second end of the break
Title: Complex Breakpoints and Template Switching Associated with Non-canonical Termination of Homologous Recombination in Mammalian Cells.
Data show that combined deletion of X-ray repair cross-complementing protein 4 (Xrcc4) and tumor suppressor p53 (Trp53) predisposes B cells to lymphomagenesis.
Title: Combined deletion of Xrcc4 and Trp53 in mouse germinal center B cells leads to novel B cell lymphomas with clonal heterogeneity.
FBXW7 facilitates nonhomologous end-joining via K63-linked polyubiquitylation of XRCC4 in tumor cells.
Title: FBXW7 Facilitates Nonhomologous End-Joining via K63-Linked Polyubiquitylation of XRCC4.
The present results collectively indicated that Lys271, but not Lys210, of XRCC4 is required for the nuclear localization of XRCC4 and LIG4 and that the nuclear localizing ability is essential for DSB repair function of XRCC4.
Title: Lysine 271 but not lysine 210 of XRCC4 is required for the nuclear localization of XRCC4 and DNA ligase IV.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (3) 1 citation

General gene information

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Markers

AW413319 (e-PCR)
- UniSTS:180566

AW545101 (e-PCR)
- UniSTS:180567

UniSTS:225179 (e-PCR)
- UniSTS:225179

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to 3' overhang single-stranded DNA endodeoxyribonuclease activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables FHA domain binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DN2 thymocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within DNA ligation	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA ligation involved in DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA ligation involved in DNA repair	ISO Inferred from Sequence Orthology more info
involved_in DNA ligation involved in DNA repair	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within V(D)J recombination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via nonhomologous end joining	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within double-strand break repair via nonhomologous end joining	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via nonhomologous end joining	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immunoglobulin V(D)J recombination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within immunoglobulin V(D)J recombination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within isotype switching	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protection from non-homologous end joining at telomere	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ligase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphatidylserine exposure on apoptotic cell surface	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phosphatidylserine exposure on apoptotic cell surface	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within pro-B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to site of double-strand break	ISO Inferred from Sequence Orthology more info
involved_in protein localization to site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to X-ray	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to X-ray	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to X-ray	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to gamma radiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomeric DNA-containing double minutes formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of DNA ligase IV complex	IBA Inferred from Biological aspect of Ancestor more info
part_of DNA ligase IV complex	ISO Inferred from Sequence Orthology more info
part_of DNA-dependent protein kinase-DNA ligase 4 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of DNA-dependent protein kinase-DNA ligase 4 complex	IDA Inferred from Direct Assay more info	PubMed
part_of DNA-dependent protein kinase-DNA ligase 4 complex	ISO Inferred from Sequence Orthology more info
part_of ERCC4-ERCC1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of nonhomologous end joining complex	ISO Inferred from Sequence Orthology more info
part_of nonhomologous end joining complex	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in site of double-strand break	ISO Inferred from Sequence Orthology more info
located_in site of double-strand break	ISO Inferred from Sequence Orthology more info
is_active_in site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: DNA repair protein XRCC4

Names: X-ray repair cross-complementing protein 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.