| Tbio | UV excision repair protein RAD23 homolog B |
The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery. Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair. In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA and also binds to a variety of chemically and structurally diverse DNA adducts. XPC:RAD23B contacts DNA both 5' and 3' of a cisplatin lesion with a preference for the 5' side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B stimulates the activity of DNA glycosylases TDG and SMUG1.
The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]
The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Craniofacial Abnormalities | 151 | 0.0 | 0.0 |
| Infertility, Male | 46 | 0.0 | 0.0 |
| Prostatic Neoplasms | 495 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Male infertility | 206 |
| Disease | Target Count | P-value |
|---|---|---|
| tuberculosis and treatment for 6 months | 409 | 1.3e-05 |
| lung adenocarcinoma | 2716 | 2.9e-05 |
| osteosarcoma | 7950 | 3.0e-05 |
| ovarian cancer | 8520 | 1.1e-04 |
| Multiple myeloma | 1332 | 3.5e-03 |
| group 3 medulloblastoma | 4104 | 3.9e-03 |
| lung cancer | 4740 | 8.2e-03 |
| dermatomyositis | 966 | 1.3e-02 |
| interstitial lung disease | 298 | 1.8e-02 |
| Waldenstrons macroglobulinemia | 765 | 1.8e-02 |
| Breast cancer | 3578 | 2.5e-02 |
| hereditary spastic paraplegia | 318 | 4.9e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Acquired metabolic disease | 336 | 0.0 | 0.9 |
| Prostate cancer | 175 | 0.0 | 3.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Xeroderma pigmentosum | 43 | 6.225 | 3.1 |
| Cockayne syndrome | 60 | 4.025 | 2.0 |
| Photosensitive trichothiodystrophy | 30 | 3.928 | 2.0 |
| Disease | log2 FC | p |
|---|---|---|
| Breast cancer | 3.000 | 2.5e-02 |
| dermatomyositis | -1.300 | 1.3e-02 |
| group 3 medulloblastoma | 1.200 | 3.9e-03 |
| hereditary spastic paraplegia | -1.217 | 4.9e-02 |
| interstitial lung disease | -1.700 | 1.8e-02 |
| lung adenocarcinoma | 2.298 | 2.9e-05 |
| lung cancer | 1.400 | 8.2e-03 |
| Multiple myeloma | 1.558 | 3.5e-03 |
| osteosarcoma | 1.205 | 3.0e-05 |
| ovarian cancer | -1.700 | 1.1e-04 |
| tuberculosis and treatment for 6 months | 1.400 | 1.3e-05 |
| Waldenstrons macroglobulinemia | 1.033 | 1.8e-02 |
MQVTLKTLQQQTFKIDIDPEETVKALKEKIESEKGKDAFPVAGQKLIYAGKILNDDTALKEYKIDEKNFV 1 - 70 VVMVTKPKAVSTPAPATTQQSAPASTTAVTSSTTTTVAQAPTPVPALAPTSTPASITPASATASSEPAPA 71 - 140 SAAKQEKPAEKPAETPVATSPTATDSTSGDSSRSNLFEDATSALVTGQSYENMVTEIMSMGYEREQVIAA 141 - 210 LRASFNNPDRAVEYLLMGIPGDRESQAVVDPPQAASTGAPQSSAVAAAAATTTATTTTTSSGGHPLEFLR 211 - 280 NQPQFQQMRQIIQQNPSLLPALLQQIGRENPQLLQQISQHQEHFIQMLNEPVQEAGGQGGGGGGGSGGIA 281 - 350 EAGSGHMNYIQVTPQEKEAIERLKALGFPEGLVIQAYFACEKNENLAANFLLQQNFDED 351 - 409 //
