CENPJ
| Centromere protein J | |||||||||||
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| Identifiers | |||||||||||
| Symbols | CENPJ ; LAP; LIP1; BM032; CPAP; MCPH6; MGC131581; MGC131582; MGC142222; MGC142224 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 10204 | ||||||||||
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| Species | Human | Mouse | |||||||||
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Centromere protein J, also known as CENPJ, is a human gene.[1]
This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation.[1]
References
Further reading
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
- Hung LY, Tang CJ, Tang TK (2000). "Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex". Mol. Cell. Biol. 20 (20): 7813–25. PMID 11003675.
- Iouzalen N, Andreae S, Hannier S, Triebel F (2001). "LAP, a lymphocyte activation gene-3 (LAG-3)-associated protein that binds to a repeated EP motif in the intracellular region of LAG-3, may participate in the down-regulation of the CD3/TCR activation pathway". Eur. J. Immunol. 31 (10): 2885–91. PMID 11592063.
- Tchernev VT, Mansfield TA, Giot L; et al. (2002). "The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins". Mol. Med. 8 (1): 56–64. PMID 11984006.
- Peng B, Sutherland KD, Sum EY; et al. (2003). "CPAP is a novel stat5-interacting cofactor that augments stat5-mediated transcriptional activity". Mol. Endocrinol. 16 (9): 2019–33. PMID 12198240.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Leal GF, Roberts E, Silva EO; et al. (2003). "A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2". J. Med. Genet. 40 (7): 540–2. PMID 12843329.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Hung LY, Chen HL, Chang CW; et al. (2004). "Identification of a novel microtubule-destabilizing motif in CPAP that binds to tubulin heterodimers and inhibits microtubule assembly". Mol. Biol. Cell. 15 (6): 2697–706. doi:10.1091/mbc.E04-02-0121. PMID 15047868.
- Dunham A, Matthews LH, Burton J; et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. doi:10.1038/nature02379. PMID 15057823.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Koyanagi M, Hijikata M, Watashi K; et al. (2005). "Centrosomal P4.1-associated protein is a new member of transcriptional coactivators for nuclear factor-kappaB". J. Biol. Chem. 280 (13): 12430–7. doi:10.1074/jbc.M410420200. PMID 15687488.
- Bond J, Roberts E, Springell K; et al. (2005). "A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size". Nat. Genet. 37 (4): 353–5. doi:10.1038/ng1539. PMID 15793586.
- Cho JH, Chang CJ, Chen CY, Tang TK (2006). "Depletion of CPAP by RNAi disrupts centrosome integrity and induces multipolar spindles". Biochem. Biophys. Res. Commun. 339 (3): 742–7. doi:10.1016/j.bbrc.2005.11.074. PMID 16316625.
- Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
- Chen CY, Olayioye MA, Lindeman GJ, Tang TK (2006). "CPAP interacts with 14-3-3 in a cell cycle-dependent manner". Biochem. Biophys. Res. Commun. 342 (4): 1203–10. doi:10.1016/j.bbrc.2006.02.089. PMID 16516142.
- Evans PD, Vallender EJ, Lahn BT (2006). "Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ". Gene. 375: 75–9. doi:10.1016/j.gene.2006.02.019. PMID 16631324.
- Lim J, Hao T, Shaw C; et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
- Gul A, Hassan MJ, Hussain S; et al. (2006). "A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly". J. Hum. Genet. 51 (9): 760–4. doi:10.1007/s10038-006-0017-1. PMID 16900296.
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