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XRCC6 (X-ray repair cross complementing 6)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2547
Gene nameGene Name - the full gene name approved by the HGNC.
X-ray repair cross complementing 6
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
XRCC6
SynonymsGene synonyms aliases
CTC75, CTCBF, G22P1, KU70, ML8, TLAA
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.2
SummarySummary of gene provided in NCBI Entrez Gene.
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]
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT036579 hsa-miR-941 CLASH 23622248
MIRT036849 hsa-miR-877-3p CLASH 23622248
MIRT039005 hsa-miR-766-3p CLASH 23622248
MIRT039281 hsa-miR-671-5p CLASH 23622248
MIRT039688 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000723 Process Telomere maintenance IBA 21873635
GO:0000723 Process Telomere maintenance TAS 15824061, 18710952, 24095731
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000783 Component Nuclear telomere cap complex TAS 15100233
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 18809223
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P12956
Protein name X-ray repair cross-complementing protein 6 (EC 3.6.4.-) (EC 4.2.99.-) (5'-deoxyribose-5-phosphate lyase Ku70) (5'-dRP 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) (CTC75) (CTCBF) (DNA repair protein XRCC6) (Lupus Ku autoantigen protein p70) (Ku70) (Thyroid-lupus autoantigen) (TLAA) (X-ray repair complementing defective repair in Chinese hamster cells 6)
Protein function Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step. Required for osteocalcin gene expression. Probably also acts as a 5'-deoxyribose-5-phosphate lyase (5'-dRP lyase), by catalyzing the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site near double-strand breaks. 5'-dRP lyase activity allows to 'clean' the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with APEX1 acts as a negative regulator of transcription. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway.
PDB 1JEQ , 1JEY , 1JJR , 3RZX , 5Y3R , 6ERF , 6ERG , 6ERH , 6ZHA , 6ZHE , 7AXZ , 7K0Y , 7K1J , 7K1K , 7K1N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03731 Ku_N
37 256
Ku70/Ku80 N-terminal alpha/beta domain
Domain
PF02735 Ku
263 468
Ku70/Ku80 beta-barrel domain
Domain
PF03730 Ku_C
472 557
Ku70/Ku80 C-terminal arm
Family
PF02037 SAP
573 607
SAP domain
Family
Sequence
Sequence length 609
Interactions View interactions

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