Centromere-associated protein E is a protein that in humans is encoded by the CENPEgene.[5][6]
Centromere-associated protein E is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centromere-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. CENPE is proposed to be one of the motors responsible for mammalian chromosome movement and/or spindle elongation.[6]
CENPE is also called Kinesin-7.
Clinical significance
Mutations in CENPE result in autosomal recessive primary microcephaly type 13, which includes skeletal abnormalities and immunodeficiency.[7]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Testa JR, Zhou JY, Bell DW, Yen TJ (Mar 1995). "Chromosomal localization of the genes encoding the kinetochore proteins CENPE and CENPF to human chromosomes 4q24→q25 and 1q32→q41, respectively, by fluorescence in situ hybridization". Genomics. 23 (3): 691–3. doi:10.1006/geno.1994.1558. PMID7851898.
Cooke CA, Schaar B, Yen TJ, Earnshaw WC (1998). "Localization of CENP-E in the fibrous corona and outer plate of mammalian kinetochores from prometaphase through anaphase". Chromosoma. 106 (7): 446–55. doi:10.1007/s004120050266. PMID9391217. S2CID18884489.
Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID15146197. S2CID27764390.
Garcia-Saez I, Blot D, Kahn R, Kozielski F (2005). "Crystallization and preliminary crystallographic analysis of the motor domain of human kinetochore-associated protein CENP-E using an automated crystallization procedure". Acta Crystallogr. D. 60 (Pt 6): 1158–60. doi:10.1107/S0907444904009564. PMID15159587.
Garcia-Saez I, Yen T, Wade RH, Kozielski F (2004). "Crystal structure of the motor domain of the human kinetochore protein CENP-E". J. Mol. Biol. 340 (5): 1107–16. doi:10.1016/j.jmb.2004.05.053. PMID15236970.