6hyl

Structural highlights

Disease

[PCM1_HUMAN] Differentiated thyroid carcinoma. A chromosomal aberration involving PCM1 is found in papillary thyroid carcinomas (PTCs) (PubMed:10980597). Translocation t(8;10)(p21.3;q11.2) with RET links the protein kinase domain of RET to the major portion of PCM1 (PubMed:10980597).^[1] A chromosomal aberration involving PCM1 is found in a variety of hematological malignancies including atypical chronic myeloid leukemia (atypical CML) and T-cell lymphoma (PubMed:15805263, PubMed:16034466, PubMed:16091753, PubMed:16769584, PubMed:16424865). Translocation t(8;9)(p22;p24) with JAK2 links the protein kinase domain of JAK2 to the major portion of PCM1 (PubMed:15805263, PubMed:16034466, PubMed:16091753, PubMed:16769584, PubMed:16424865).^{[2] [3] [4] [5] [6]}

Function

[PCM1_HUMAN] Required for centrosome assembly and function (PubMed:12403812, PubMed:15659651, PubMed:16943179). Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2 (PubMed:12403812, PubMed:15659651). Required to anchor microtubules to the centrosome (PubMed:12403812, PubMed:15659651). Involved in the biogenesis of cilia (PubMed:20551181, PubMed:24121310).^{[7] [8] [9] [10] [11]}

References

1. ↑ Corvi R, Berger N, Balczon R, Romeo G. RET/PCM-1: a novel fusion gene in papillary thyroid carcinoma. Oncogene. 2000 Aug 31;19(37):4236-42. PMID:10980597 doi:http://dx.doi.org/10.1038/sj.onc.1203772
2. ↑ Reiter A, Walz C, Watmore A, Schoch C, Blau I, Schlegelberger B, Berger U, Telford N, Aruliah S, Yin JA, Vanstraelen D, Barker HF, Taylor PC, O'Driscoll A, Benedetti F, Rudolph C, Kolb HJ, Hochhaus A, Hehlmann R, Chase A, Cross NC. The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2. Cancer Res. 2005 Apr 1;65(7):2662-7. PMID:15805263 doi:http://dx.doi.org/65/7/2662
3. ↑ Murati A, Gelsi-Boyer V, Adelaide J, Perot C, Talmant P, Giraudier S, Lode L, Letessier A, Delaval B, Brunel V, Imbert M, Garand R, Xerri L, Birnbaum D, Mozziconacci MJ, Chaffanet M. PCM1-JAK2 fusion in myeloproliferative disorders and acute erythroid leukemia with t(8;9) translocation. Leukemia. 2005 Sep;19(9):1692-6. doi: 10.1038/sj.leu.2403879. PMID:16034466 doi:http://dx.doi.org/10.1038/sj.leu.2403879
4. ↑ Bousquet M, Quelen C, De Mas V, Duchayne E, Roquefeuil B, Delsol G, Laurent G, Dastugue N, Brousset P. The t(8;9)(p22;p24) translocation in atypical chronic myeloid leukaemia yields a new PCM1-JAK2 fusion gene. Oncogene. 2005 Nov 3;24(48):7248-52. PMID:16091753 doi:http://dx.doi.org/1208850
5. ↑ Adelaide J, Perot C, Gelsi-Boyer V, Pautas C, Murati A, Copie-Bergman C, Imbert M, Chaffanet M, Birnbaum D, Mozziconacci MJ. A t(8;9) translocation with PCM1-JAK2 fusion in a patient with T-cell lymphoma. Leukemia. 2006 Mar;20(3):536-7. doi: 10.1038/sj.leu.2404104. PMID:16424865 doi:http://dx.doi.org/10.1038/sj.leu.2404104
6. ↑ Bacher U, Reiter A, Haferlach T, Mueller L, Schnittger S, Kern W, Schoch C. A combination of cytomorphology, cytogenetic analysis, fluorescence in situ hybridization and reverse transcriptase polymerase chain reaction for establishing clonality in cases of persisting hypereosinophilia. Haematologica. 2006 Jun;91(6):817-20. PMID:16769584
7. ↑ Dammermann A, Merdes A. Assembly of centrosomal proteins and microtubule organization depends on PCM-1. J Cell Biol. 2002 Oct 28;159(2):255-66. doi: 10.1083/jcb.200204023. Epub 2002 Oct, 28. PMID:12403812 doi:http://dx.doi.org/10.1083/jcb.200204023
8. ↑ Hames RS, Crookes RE, Straatman KR, Merdes A, Hayes MJ, Faragher AJ, Fry AM. Dynamic recruitment of Nek2 kinase to the centrosome involves microtubules, PCM-1, and localized proteasomal degradation. Mol Biol Cell. 2005 Apr;16(4):1711-24. doi: 10.1091/mbc.e04-08-0688. Epub 2005, Jan 19. PMID:15659651 doi:http://dx.doi.org/10.1091/mbc.e04-08-0688
9. ↑ Srsen V, Gnadt N, Dammermann A, Merdes A. Inhibition of centrosome protein assembly leads to p53-dependent exit from the cell cycle. J Cell Biol. 2006 Aug 28;174(5):625-30. doi: 10.1083/jcb.200606051. PMID:16943179 doi:http://dx.doi.org/10.1083/jcb.200606051
10. ↑ Sedjai F, Acquaviva C, Chevrier V, Chauvin JP, Coppin E, Aouane A, Coulier F, Tolun A, Pierres M, Birnbaum D, Rosnet O. Control of ciliogenesis by FOR20, a novel centrosome and pericentriolar satellite protein. J Cell Sci. 2010 Jul 15;123(Pt 14):2391-401. doi: 10.1242/jcs.065045. Epub 2010, Jun 15. PMID:20551181 doi:http://dx.doi.org/10.1242/jcs.065045
11. ↑ Villumsen BH, Danielsen JR, Povlsen L, Sylvestersen KB, Merdes A, Beli P, Yang YG, Choudhary C, Nielsen ML, Mailand N, Bekker-Jensen S. A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis. EMBO J. 2013 Nov 27;32(23):3029-40. doi: 10.1038/emboj.2013.223. Epub 2013 Oct, 11. PMID:24121310 doi:http://dx.doi.org/10.1038/emboj.2013.223