XRCC6 X-ray repair cross complementing 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: XRCC6provided by HGNC
Official Full Name: X-ray repair cross complementing 6provided by HGNC
Primary source: HGNC:HGNC:4055
See related: Ensembl:ENSG00000196419 MIM:152690; AllianceGenome:HGNC:4055
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ML8; KU70; TLAA; CTC75; CTCBF; G22P1
Summary: The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 152.7), lymph node (RPKM 92.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (41621295..41664041)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (42100225..42143017)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (42017299..42060045)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

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.
Nuclear expression of Ku70/80 is associated with CHEK2 germline mutations in breast cancer.
Title: Nuclear expression of Ku70/80 is associated with CHEK2 germline mutations in breast cancer.
Analysis of Ku70 S155 Phospho-Specific BioID2 Interactome Identifies Ku Association with TRIP12 in Response to DNA Damage.
Title: Analysis of Ku70 S155 Phospho-Specific BioID2 Interactome Identifies Ku Association with TRIP12 in Response to DNA Damage.
TEX10 Promotes the Tumorigenesis and Radiotherapy Resistance of Urinary Bladder Carcinoma by Stabilizing XRCC6.
Title: TEX10 Promotes the Tumorigenesis and Radiotherapy Resistance of Urinary Bladder Carcinoma by Stabilizing XRCC6.
The Large Nonstructural Protein (NS1) of Human Bocavirus 1 Directly Interacts with Ku70, Which Plays an Important Role in Virus Replication in Human Airway Epithelia.
Title: The Large Nonstructural Protein (NS1) of Human Bocavirus 1 Directly Interacts with Ku70, Which Plays an Important Role in Virus Replication in Human Airway Epithelia.
Down-regulation of GP130 signaling sensitizes bladder cancer to cisplatin by impairing Ku70 DNA repair signaling and promoting apoptosis.
Title: Down-regulation of GP130 signaling sensitizes bladder cancer to cisplatin by impairing Ku70 DNA repair signaling and promoting apoptosis.
Phospho-Ku70 induced by DNA damage interacts with RNA Pol II and promotes the formation of phospho-53BP1 foci to ensure optimal cNHEJ.
Title: Phospho-Ku70 induced by DNA damage interacts with RNA Pol II and promotes the formation of phospho-53BP1 foci to ensure optimal cNHEJ.
The Role of Ku70 as a Cytosolic DNA Sensor in Innate Immunity and Beyond.
Title: The Role of Ku70 as a Cytosolic DNA Sensor in Innate Immunity and Beyond.
Ku70 suppresses alternative end joining in G1-arrested progenitor B cells.
Title: Ku70 suppresses alternative end joining in G1-arrested progenitor B cells.
A uniform expression library for the exploration of FOX transcription factor biology.
Title: A uniform expression library for the exploration of FOX transcription factor biology.

Submit: New GeneRIF Correction See all GeneRIFs (196)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 NL4-3 replication is restricted by XRCC6 as enhanced replication was discovered when XRCC6 is deleted through CRISPR/Cas9 genome editing in primary CD4+ T cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat interacts with TOP2B (topoisomeraseIIb), XRCC6 (Ku70), and PARP1 during transactivation and viral replication	PubMed
	tat	Ku protein binds to HIV-1 TAR RNA and is involved in the stimulation of the elongation property of RNA polymerase II as well as the activation of several transcription factors, suggesting a role in HIV-1 gene expression and Tat transactivation	PubMed
	tat	X-ray repair cross-complementing protein 6 (XRCC6, KU70) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS	PubMed
Vif	vif	Ku70, which is a component of HIV-1 preintegration complexes, was shown to bind to HIV-1 Vif in a yeast two-hybrid screen of a human lymphocyte cDNA library	PubMed
integrase	gag-pol	Ku70 is incorporated into viral particles and stabilizes HIV-1 IN expression	PubMed
	gag-pol	HIV-1 IN binds to Ku70 via the C-terminal half of IN (residues 112-288), leading to protect IN from degradation by reducing the total ubiquitination level in the host cells	PubMed
	gag-pol	Ku70 associates with viral preintegration complexes containing HIV-1 Integrase	PubMed
	gag-pol	DNA-PK, along with Ku70 and Ku80, is proposed to play a role in retroviral DNA integration and protects cells against toxicity induced by HIV-1 Integrase or integration	PubMed
matrix	gag	HIV-1 MA interacts with XRCC6 (Ku70)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D22S731 (e-PCR)
- UniSTS:34059

D22S1245 (e-PCR)
- UniSTS:32024

WI-18866 (e-PCR)
- UniSTS:32025

SGC34657 (e-PCR)
- UniSTS:83511

D10S2161 (e-PCR)
- UniSTS:38473

G67490 (e-PCR)
- UniSTS:186710

csnpg22p1-pcr12-2 (e-PCR)
- UniSTS:243037

RH11334 (e-PCR)
- UniSTS:92015

D22S1267 (e-PCR)
- UniSTS:16310

RH27888 (e-PCR)
- UniSTS:87747

GDB:190933 (e-PCR)
- UniSTS:155638

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 5'-deoxyribose-5-phosphate lyase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP-dependent activity, acting on DNA	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
contributes_to DNA end binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables cyclin binding	IPI Inferred from Physical Interaction more info	PubMed
enables damaged DNA binding	IEA Inferred from Electronic Annotation more info
contributes_to double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to double-stranded telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables scaffold protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in DNA ligation	TAS Traceable Author Statement more info	PubMed
involved_in activation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular hyperosmotic salinity response	IEA Inferred from Electronic Annotation more info
involved_in cellular response to X-ray	IEA Inferred from Electronic Annotation more info
involved_in cellular response to gamma radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via classical nonhomologous end joining	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	IBA Inferred from Biological aspect of Ancestor more info
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	NAS Non-traceable Author Statement more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	TAS Traceable Author Statement more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of lymphocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in recombinational repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of DNA-dependent protein kinase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of DNA-dependent protein kinase-DNA ligase 4 complex	IDA Inferred from Direct Assay more info	PubMed
part_of Ku70:Ku80 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Ku70:Ku80 complex	IDA Inferred from Direct Assay more info	PubMed
part_of Ku70:Ku80 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome, telomeric region	HDA more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
part_of nonhomologous end joining complex	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear telomere cap complex	TAS Traceable Author Statement more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed
part_of protein-DNA complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule lumen	TAS Traceable Author Statement more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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

Names: 5'-dRP lyase Ku70; 5'-deoxyribose-5-phosphate lyase Ku70; 70 kDa subunit of Ku antigen; ATP-dependent DNA helicase 2 subunit 1; ATP-dependent DNA helicase II, 70 kDa subunit; CTC box binding factor 75 kDa subunit; DNA repair protein XRCC6; Ku autoantigen p70 subunit; Ku autoantigen, 70kDa; X-ray repair complementing defective repair in Chinese hamster cells 6; lupus Ku autoantigen protein p70; thyroid autoantigen 70kD (Ku antigen); thyroid autoantigen 70kDa (Ku antigen); thyroid-lupus autoantigen p70

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_001288976.2 → NP_001275905.1 X-ray repair cross-complementing protein 6 isoform 1

See identical proteins and their annotated locations for NP_001275905.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

BC001583, BU902323, DA647513, DA718140, DC383335, Z83840

Consensus CDS

CCDS14021.1

UniProtKB/Swiss-Prot

B1AHC8, P12956, Q6FG89, Q9UCQ2, Q9UCQ3

UniProtKB/TrEMBL

B2RDN9

Related

ENSP00000352257.4, ENST00000359308.8

Conserved Domains (1) summary

TIGR00578
Location:26 → 608

ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)
NM_001288977.2 → NP_001275906.1 X-ray repair cross-complementing protein 6 isoform 2

See identical proteins and their annotated locations for NP_001275906.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region. The encoded protein (isoform 2) is shorter, compared to isoform 1.

Source sequence(s)

AK055786, BQ217843, BU584415, BU751953

Consensus CDS

CCDS74870.1

UniProtKB/TrEMBL

B2RDN9

Related

ENSP00000384941.3, ENST00000402580.7

Conserved Domains (1) summary

TIGR00578
Location:26 → 567

ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)
NM_001288978.2 → NP_001275907.1 X-ray repair cross-complementing protein 6 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses a downstream translation start, compared to variant 1. The encoded protein (isoform 3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK293439, AK304580, BI222708, BU751953, Z83840

Consensus CDS

CCDS74871.1

UniProtKB/TrEMBL

B1AHC9, B4DE32, F5H1I8

Related

ENSP00000403679.3, ENST00000428575.6

Conserved Domains (1) summary

TIGR00578
Location:16 → 558

ku70; ATP-dependent DNA helicase II, 70 kDa subunit (ku70)
NM_001469.5 → NP_001460.1 X-ray repair cross-complementing protein 6 isoform 1

See identical proteins and their annotated locations for NP_001460.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1). Variants 1 and 2 encode the same protein.

Source sequence(s)

AK055786, BC012154, BC018259

Consensus CDS

CCDS14021.1

UniProtKB/Swiss-Prot

B1AHC8, P12956, Q6FG89, Q9UCQ2, Q9UCQ3

UniProtKB/TrEMBL

B2RDN9

Related

ENSP00000353192.3, ENST00000360079.8

Conserved Domains (1) summary

TIGR00578
Location:26 → 608

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

41621295..41664041

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441304.1 → XP_047297260.1 X-ray repair cross-complementing protein 6 isoform X1

UniProtKB/TrEMBL

B1AHC9, F5H1I8

Conserved Domains (1) summary

TIGR00578
Location:16 → 558

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