| Tbio | X-ray repair cross-complementing protein 5 |
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 (PubMed:12145306, PubMed:20383123, PubMed:7957065, PubMed:8621488). The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step. In association with NAA15, the XRCC5/6 dimer binds to the osteocalcin promoter and activates osteocalcin expression (PubMed:20383123). The XRCC5/6 dimer 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. XRCC5 probably acts as the catalytic subunit of 5'-dRP activity, and 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 (PubMed:8621488). 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.
The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Adenocarcinoma of lung | 142 | 0.0 | 0.0 |
| Disease Models, Animal | 155 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Alcoholic Intoxication, Chronic | 289 |
| alcohol sensitivity | 3 |
| Disease | Target Count | P-value |
|---|---|---|
| acute quadriplegic myopathy | 1158 | 1.1e-08 |
| glioblastoma | 5792 | 1.2e-08 |
| atypical teratoid / rhabdoid tumor | 5112 | 1.4e-08 |
| pediatric high grade glioma | 1064 | 3.0e-07 |
| medulloblastoma, large-cell | 6241 | 8.6e-07 |
| primitive neuroectodermal tumor | 3035 | 9.0e-06 |
| group 3 medulloblastoma | 4104 | 6.7e-05 |
| lung cancer | 4740 | 3.0e-04 |
| Multiple myeloma | 1332 | 1.3e-03 |
| Waldenstrons macroglobulinemia | 765 | 2.5e-03 |
| ovarian cancer | 8520 | 2.5e-03 |
| breast carcinoma | 1638 | 4.4e-03 |
| osteosarcoma | 7950 | 7.2e-03 |
| Breast cancer | 3578 | 3.6e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Systemic lupus erythematosus | 194 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cancer | 2499 | 4.756 | 2.4 |
| Werner syndrome | 29 | 3.983 | 2.0 |
| Xeroderma pigmentosum | 43 | 3.428 | 1.7 |
| Severe combined immunodeficiency | 51 | 3.336 | 1.7 |
| Ataxia telangiectasia | 34 | 3.248 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | 1.262 | 1.1e-08 |
| atypical teratoid / rhabdoid tumor | 1.300 | 1.4e-08 |
| Breast cancer | 2.700 | 3.6e-02 |
| breast carcinoma | 1.500 | 4.4e-03 |
| glioblastoma | 1.100 | 1.2e-08 |
| group 3 medulloblastoma | 1.200 | 6.7e-05 |
| lung cancer | 1.500 | 3.0e-04 |
| medulloblastoma, large-cell | 1.500 | 8.6e-07 |
| Multiple myeloma | 1.101 | 1.3e-03 |
| osteosarcoma | -1.130 | 7.2e-03 |
| ovarian cancer | -1.200 | 2.5e-03 |
| pediatric high grade glioma | 1.300 | 3.0e-07 |
| primitive neuroectodermal tumor | 1.100 | 9.0e-06 |
| Waldenstrons macroglobulinemia | 1.568 | 2.5e-03 |
MVRSGNKAAVVLCMDVGFTMSNSIPGIESPFEQAKKVITMFVQRQVFAENKDEIALVLFGTDGTDNPLSG 1 - 70 GDQYQNITVHRHLMLPDFDLLEDIESKIQPGSQQADFLDALIVSMDVIQHETIGKKFEKRHIEIFTDLSS 71 - 140 RFSKSQLDIIIHSLKKCDISLQFFLPFSLGKEDGSGDRGDGPFRLGGHGPSFPLKGITEQQKEGLEIVKM 141 - 210 VMISLEGEDGLDEIYSFSESLRKLCVFKKIERHSIHWPCRLTIGSNLSIRIAAYKSILQERVKKTWTVVD 211 - 280 AKTLKKEDIQKETVYCLNDDDETEVLKEDIIQGFRYGSDIVPFSKVDEEQMKYKSEGKCFSVLGFCKSSQ 281 - 350 VQRRFFMGNQVLKVFAARDDEAAAVALSSLIHALDDLDMVAIVRYAYDKRANPQVGVAFPHIKHNYECLV 351 - 420 YVQLPFMEDLRQYMFSSLKNSKKYAPTEAQLNAVDALIDSMSLAKKDEKTDTLEDLFPTTKIPNPRFQRL 421 - 490 FQCLLHRALHPREPLPPIQQHIWNMLNPPAEVTTKSQIPLSKIKTLFPLIEAKKKDQVTAQEIFQDNHED 491 - 560 GPTAKKLKTEQGGAHFSVSSLAEGSVTSVGSVNPAENFRVLVKQKKASFEEASNQLINHIEQFLDTNETP 561 - 630 YFMKSIDCIRAFREEAIKFSEEQRFNNFLKALQEKVEIKQLNHFWEIVVQDGITLITKEEASGSSVTAEE 631 - 700 AKKFLAPKDKPSGDTAAVFEEGGDVDDLLDMI 701 - 732 //
