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.
|
|
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 |
GO:0002218 |
Process |
Activation of innate immune response |
IDA |
28712728 |
GO:0003677 |
Function |
DNA binding |
NAS |
1537839 |
GO:0003678 |
Function |
DNA helicase activity |
IDA |
9368068 |
GO:0003684 |
Function |
Damaged DNA binding |
IEA |
|
GO:0003690 |
Function |
Double-stranded DNA binding |
IBA |
21873635 |
GO:0003691 |
Function |
Double-stranded telomeric DNA binding |
IDA |
10409678 |
GO:0003723 |
Function |
RNA binding |
HDA |
22658674, 22681889 |
GO:0005515 |
Function |
Protein binding |
IPI |
8621488, 10984620, 11328876, 12145306, 12377759, 14734561, 15075319, 15205477, 15383276, 15383534, 15782130, 16169070, 17124166, 17159921, 17220478, 17283121, 17308091, 17334224, 19303849, 20711232, 21044950, 21070772, 21146485, 21575865, 21679440, 22442688, 22451927, 22504299, 2368 |
GO:0005524 |
Function |
ATP binding |
IEA |
|
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005634 |
Component |
Nucleus |
TAS |
10508516 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005667 |
Component |
Transcription regulator complex |
IDA |
12145306 |
GO:0005730 |
Component |
Nucleolus |
IDA |
27829214 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006266 |
Process |
DNA ligation |
TAS |
9826654 |
GO:0006303 |
Process |
Double-strand break repair via nonhomologous end joining |
IBA |
21873635 |
GO:0006303 |
Process |
Double-strand break repair via nonhomologous end joining |
IMP |
20383123, 26359349 |
GO:0006303 |
Process |
Double-strand break repair via nonhomologous end joining |
TAS |
15824061 |
GO:0006310 |
Process |
DNA recombination |
IEA |
|
GO:0007420 |
Process |
Brain development |
IEA |
|
GO:0008022 |
Function |
Protein C-terminus binding |
IPI |
10783163 |
GO:0008094 |
Function |
DNA-dependent ATPase activity |
IDA |
9368068 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0030332 |
Function |
Cyclin binding |
IPI |
15159402 |
GO:0032481 |
Process |
Positive regulation of type I interferon production |
TAS |
|
GO:0032508 |
Process |
DNA duplex unwinding |
IEA |
|
GO:0032991 |
Component |
Protein-containing complex |
IDA |
22504299 |
GO:0032993 |
Component |
Protein-DNA complex |
IDA |
22504299 |
GO:0034774 |
Component |
Secretory granule lumen |
TAS |
|
GO:0042162 |
Function |
Telomeric DNA binding |
IBA |
21873635 |
GO:0043312 |
Process |
Neutrophil degranulation |
TAS |
|
GO:0043564 |
Component |
Ku70:Ku80 complex |
IBA |
21873635 |
GO:0043564 |
Component |
Ku70:Ku80 complex |
IDA |
20383123, 24095731, 26359349 |
GO:0044877 |
Function |
Protein-containing complex binding |
IPI |
12377759 |
GO:0045027 |
Function |
DNA end binding |
IDA |
9368068 |
GO:0045087 |
Process |
Innate immune response |
IEA |
|
GO:0045621 |
Process |
Positive regulation of lymphocyte differentiation |
ISS |
|
GO:0045860 |
Process |
Positive regulation of protein kinase activity |
IDA |
22504299 |
GO:0045892 |
Process |
Negative regulation of transcription, DNA-templated |
IMP |
8621488 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IDA |
12145306 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IMP |
18809223 |
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
IMP |
18809223 |
GO:0048660 |
Process |
Regulation of smooth muscle cell proliferation |
IMP |
25852083 |
GO:0051575 |
Function |
5'-deoxyribose-5-phosphate lyase activity |
IMP |
20383123 |
GO:0070419 |
Component |
Nonhomologous end joining complex |
IDA |
20383123, 25941166 |
GO:0071475 |
Process |
Cellular hyperosmotic salinity response |
IEA |
|
GO:0071480 |
Process |
Cellular response to gamma radiation |
IBA |
21873635 |
GO:0071480 |
Process |
Cellular response to gamma radiation |
IDA |
26359349 |
GO:0071481 |
Process |
Cellular response to X-ray |
IBA |
21873635 |
GO:0075713 |
Process |
Establishment of integrated proviral latency |
TAS |
|
GO:0097680 |
Process |
Double-strand break repair via classical nonhomologous end joining |
IDA |
24095731 |
GO:1904813 |
Component |
Ficolin-1-rich granule lumen |
TAS |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |