Description: Homo sapiens X-ray repair cross complementing 6 (XRCC6), transcript variant 1, mRNA. (from RefSeq NM_001469) RefSeq Summary (NM_001469): 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]. Gencode Transcript: ENST00000360079.8 Gencode Gene: ENSG00000196419.13 Transcript (Including UTRs) Position: hg38 chr22:41,621,295-41,664,041 Size: 42,747 Total Exon Count: 13 Strand: + Coding Region Position: hg38 chr22:41,622,005-41,663,815 Size: 41,811 Coding Exon Count: 12
ID:XRCC6_HUMAN DESCRIPTION: RecName: Full=X-ray repair cross-complementing protein 6; EC=3.6.4.-; EC=4.2.99.-; AltName: Full=5'-deoxyribose-5-phosphate lyase Ku70; Short=5'-dRP lyase Ku70; AltName: Full=70 kDa subunit of Ku antigen; AltName: Full=ATP-dependent DNA helicase 2 subunit 1; AltName: Full=ATP-dependent DNA helicase II 70 kDa subunit; AltName: Full=CTC box-binding factor 75 kDa subunit; Short=CTC75; Short=CTCBF; AltName: Full=DNA repair protein XRCC6; AltName: Full=Lupus Ku autoantigen protein p70; Short=Ku70; AltName: Full=Thyroid-lupus autoantigen; Short=TLAA; AltName: Full=X-ray repair complementing defective repair in Chinese hamster cells 6; 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. SUBUNIT: Heterodimer of a 70 kDa (XRCC6) and a 80 kDa (XRCC5) subunit. The dimer associates in a DNA-dependent manner with PRKDC to form the DNA-dependent protein kinase complex DNA-PK, and with the LIG4-XRCC4 complex. The dimer also associates with NAA15, and this complex binds to the osteocalcin promoter and activates osteocalcin expression. In addition, XRCC6 interacts with the osteoblast-specific transcription factors MSX2, RUNX2 and DLX5. Interacts with ELF3. Interacts with XRCC6BP1. The XRCC5/6 dimer associates in a DNA-dependent manner with APEX1. Interacts with CLU (By similarity). Binds to CDK9 isoform 2. INTERACTION: Q96P48:ARAP1; NbExp=2; IntAct=EBI-353208, EBI-710003; Q07812:BAX; NbExp=2; IntAct=EBI-353208, EBI-516580; P42858:HTT; NbExp=3; IntAct=EBI-353208, EBI-466029; Q92597:NDRG1; NbExp=2; IntAct=EBI-353208, EBI-716486; P78527:PRKDC; NbExp=5; IntAct=EBI-353208, EBI-352053; Q96EB6:SIRT1; NbExp=7; IntAct=EBI-353208, EBI-1802965; Q9NQB0:TCF7L2; NbExp=9; IntAct=EBI-353208, EBI-924724; P04637:TP53; NbExp=2; IntAct=EBI-353208, EBI-366083; Q14191:WRN; NbExp=7; IntAct=EBI-353208, EBI-368417; P13010:XRCC5; NbExp=8; IntAct=EBI-353208, EBI-357997; SUBCELLULAR LOCATION: Nucleus. Chromosome. DEVELOPMENTAL STAGE: Expression does not increase during promyelocyte differentiation. INDUCTION: In osteoblasts, by FGF2. PTM: Phosphorylation by PRKDC may enhance helicase activity. Phosphorylation of Ser-51 does not affect DNA repair. MISCELLANEOUS: Individuals with systemic lupus erythematosus (SLE) and related disorders produce extremely large amounts of autoantibodies to XRCC5 and XRCC6. Existence of a major autoantigenic epitope or epitopes on the C-terminal 190 amino acids of XRCC6 containing the leucine repeat. The majority of autoantibodies to XRCC6 in most sera from patients with SLE seem to be reactive with this region. SIMILARITY: Belongs to the ku70 family. SIMILARITY: Contains 1 Ku domain. SIMILARITY: Contains 1 SAP domain. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/g22p1/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P12956
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.