Xrcc6 X-ray repair complementing defective repair in Chinese hamster cells 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Xrcc6provided by MGI
Official Full Name: X-ray repair complementing defective repair in Chinese hamster cells 6provided by MGI
Primary source: MGI:MGI:95606
See related: Ensembl:ENSMUSG00000022471 AllianceGenome:MGI:95606
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: Ku70; 70kDa; G22p1
Summary: Enables double-stranded DNA binding activity. Involved in positive regulation of lymphocyte differentiation. Acts upstream of or within DNA metabolic process; positive regulation of neurogenesis; and response to ionizing radiation. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; early conceptus; gonad; liver lobe; and telencephalon ventricular layer. Orthologous to human XRCC6 (X-ray repair cross complementing 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thymus adult (RPKM 14.8), liver E14 (RPKM 4.4) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E1; 15 38.33 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (81868805..81924286)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (81987833..82040085)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Ku70 senses cytosolic DNA and assembles a tumor-suppressive signalosome.
Title: Ku70 senses cytosolic DNA and assembles a tumor-suppressive signalosome.
SETD4-mediated KU70 methylation suppresses apoptosis.
Title: SETD4-mediated KU70 methylation suppresses apoptosis.
Ablating putative Ku70 phosphorylation sites results in defective DNA damage repair and spontaneous induction of hepatocellular carcinoma.
Title: Ablating putative Ku70 phosphorylation sites results in defective DNA damage repair and spontaneous induction of hepatocellular carcinoma.
Diminished or inversed dose-rate effect on clonogenic ability in Ku-deficient rodent cells.
Title: Diminished or inversed dose-rate effect on clonogenic ability in Ku-deficient rodent cells.
C-Terminal Extensions of Ku70 and Ku80 Differentially Influence DNA End Binding Properties.
Title: C-Terminal Extensions of Ku70 and Ku80 Differentially Influence DNA End Binding Properties.
our results reveal PARP1 and the Ku70/80 complex as critical DNA double-strand breaks (DSBs) sensors, and suggest that PARP1 may function as an important regulator of the Ku70/80 complex at the DSBs in the S/G2 phase.
Title: Super-resolution imaging identifies PARP1 and the Ku complex acting as DNA double-strand break sensors.
Data show that phosphorylated Ku70 S155 interacts with the Aurora B kinase and leads to inhibition of its activity.
Title: Ku70 Serine 155 mediates Aurora B inhibition and activation of the DNA damage response.
Ku70 is epistatic with XLF and DNA-PKcs and support a model in which inactivation of Ku70 allows DNA lesions to become accessible to alternative DNA repair pathways (other than Classical Non-Homologous End-Joining (C-NHEJ)).
Title: Synthetic lethality between murine DNA repair factors XLF and DNA-PKcs is rescued by inactivation of Ku70.
Study found that emphysema occurred in ku70(-/-) mice at the age of three-months old, and that Bax deficiency was able to suppress it. These results suggest that Bax-mediated apoptosis induces emphysema in ku70(-/-) mice.
Title: Bax-induced apoptosis shortens the life span of DNA repair defect Ku70-knockout mice by inducing emphysema.
Bax deficiency appeared to delay the development of emphysema. This study suggests that enhanced Bax activity exacerbates the negative impact of Ku70 deletion
Title: Bax deficiency extends the survival of Ku70 knockout mice that develop lung and heart diseases.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Variation

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Alleles

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

Targeted (4) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 5'-deoxyribose-5-phosphate lyase activity	ISO Inferred from Sequence Orthology more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATP-dependent activity, acting on DNA	ISO Inferred from Sequence Orthology more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
contributes_to DNA end binding	ISO Inferred from Sequence Orthology more info
enables DNA helicase activity	ISO Inferred from Sequence Orthology more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables cyclin binding	ISO Inferred from Sequence Orthology more info
enables damaged DNA binding	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
contributes_to double-stranded telomeric DNA binding	ISO Inferred from Sequence Orthology more info
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables lyase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables scaffold protein binding	ISO Inferred from Sequence Orthology more info
enables telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within DNA recombination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within V(D)J recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in activation of innate immune response	ISO Inferred from Sequence Orthology more info
involved_in cellular hyperosmotic salinity response	ISO Inferred from Sequence Orthology more info
involved_in cellular response to X-ray	ISO Inferred from Sequence Orthology more info
involved_in cellular response to gamma radiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via classical nonhomologous end joining	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	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via nonhomologous end joining	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within immune system process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within innate immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lymphocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein kinase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in recombinational repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of DNA-dependent protein kinase complex	ISO Inferred from Sequence Orthology more info
part_of DNA-dependent protein kinase-DNA ligase 4 complex	ISO Inferred from Sequence Orthology more info
part_of Ku70:Ku80 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Ku70:Ku80 complex	ISO Inferred from Sequence Orthology more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of nonhomologous end joining complex	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-DNA complex	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: X-ray repair cross-complementing protein 6

Names: 5'-dRP/AP lyase Ku70; 5'-deoxyribose-5-phosphate lyase Ku70; ATP-dependent DNA helicase 2 subunit 1; ATP-dependent DNA helicase II 70 kDa subunit; CTC box-binding factor 75 kDa subunit; CTC75; CTCBF; DNA repair protein XRCC6; Ku p70; ku autoantigen protein p70 homolog; thyroid autoantigen 70 kDa

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.

mRNA and Protein(s)

NM_001411249.1 → NP_001398178.1 X-ray repair cross-complementing protein 6 isoform 1

Status: VALIDATED

Source sequence(s)

AC102176

UniProtKB/TrEMBL

A0A0R4J187

Related

ENSMUSP00000097968.5, ENSMUST00000100399.11
NM_001411250.1 → NP_001398179.1 X-ray repair cross-complementing protein 6 isoform 2

Status: VALIDATED

Source sequence(s)

AC102176
NM_010247.3 → NP_034377.2 X-ray repair cross-complementing protein 6 isoform 1

See identical proteins and their annotated locations for NP_034377.2

Status: VALIDATED

Source sequence(s)

AC102176

Consensus CDS

CCDS37153.1

UniProtKB/Swiss-Prot

O88212, P23475, Q3UJL8, Q62027, Q62382, Q62453, Q6GTV8, Q8QZX7

UniProtKB/TrEMBL

A0A0R4J187

Related

ENSMUSP00000068559.7, ENSMUST00000069530.13

Conserved Domains (1) summary

TIGR00578
Location:22 → 606

ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)