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20 Possible Causes for ROC1

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  • Three M Syndrome

    […] in the E3 ubiquitin ligase complex, in which CUL7 interacts with both a heterodimer (composed of Skp1 bound to a member of the F-box protein family named Fbx29) and the ROC1[doi.org] A total of 50% of CUL7 mutations are located in the cullin domain critical for anchoring the ROC1 protein; the others are located throughout the gene).[doi.org] At high expression levels, CUL7 may interfere with the function of other cullins by sequestering ROC1 in the cytoplasm. 12 On the other hand, in normal cells, the growth-promoting[doi.org]

  • Cockayne Syndrome

    A protein complex consisting of CSA, DDB1, cullin 4A, and Roc1 exhibits ubiquitin ligase activity. The role of CSA protein in TC-NER is described in this review.[ncbi.nlm.nih.gov] The CSA protein consists of seven WD40 repeat motifs with a β-propeller architecture, and exists as part of a complex with DDB1, cullin 4A and Roc1 that exhibits ubiquitin[doi.org]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] phosphatase, non-receptor type 3 (EC:3.1.3.48) C00000094 6004 RGS16, A28-RGS14, A28-RGS14P, RGS-R regulator of G-protein signaling 16 C00000094 6016 RIT1, NS8, RIBB, RIT, ROC1[genome.jp]

  • Young Simpson Syndrome

    RAS p21 protein activator 2 RASA2 601589 9872 RAS related related RAS viral (r-ras) oncogene homolog RRAS 0 165090 10447 ras-like without CAAX 1 MGC125864 MGC125865 RIBB ROC1[ukgtn.nhs.uk]

  • X-linked Intellectual Disability Type Raymond

    Ramshackle (Brwd3) promotes light-induced ubiquitylation of Drosophila Cryptochrome by DDB1-CUL4-ROC1 E3 ligase complex. Proc Natl Acad Sci USA. 2013;110:4980–5.[springermedizin.de]

  • Yaws

    This signature is present in ROC1, which distinguishes it from T. pallidum subsp. endemicum strains.[jcm.asm.org] The DNA sequence of the clinical specimen (ROC1) is identical to that of T. pallidum subsp. pertenue and endemicum strains.[jcm.asm.org] Sequence analysis of IGR19 showed that the clinical specimen (ROC1) had a genetic signature (CCCTCC) that is homologous to that found in T. pallidum subsp. pertenue strain[jcm.asm.org]

  • Neurofibromatosis-Noonan Syndrome

    RAS p21 protein activator 2 RASA2 601589 9872 RAS related related RAS viral (r-ras) oncogene homolog RRAS 0 165090 10447 ras-like without CAAX 1 MGC125864 MGC125865 RIBB ROC1[ukgtn.nhs.uk]

  • Xeroderma Pigmentosum Complementation Group B

    Histone H3 and H4 ubiquitylation by the CUL4-DDB-ROC1 ubiquitin ligase facilitates cellular response to DNA damage . Mol. Cell 22 , 383 – 394 . Weir , H.[cambridge.org]

  • X-linked Cleft Palate and Ankyloglossia

    Ramshackle (Brwd3) promotes light-induced ubiquitylation of Drosophila Cryptochrome by DDB1-CUL4-ROC1 E3 ligase complex. Proc Natl Acad Sci USA. 2013;110:4980–5.[bmcmedgenet.biomedcentral.com] In Drosophila, BRWD3 belongs to the CUL4-ROC1-DDB1 E3 ligase complex in which it acts as a CULLIN (CUL)4-associated factor that mediates light-dependent binding of CRY (Cryptochrome[bmcmedgenet.biomedcentral.com]

  • PIBIDS Syndrome

    Izkazalo se je tudi, da ima UV-DBB pomembno vlogo pri uravnavanju procesa na nivoju kromatina, saj je UV-DBB tudi del ubikvitin ligaznega kompleksa E3 (UV-DDB-CUL4-ROC1),[wiki.fkkt.uni-lj.si]

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