CENPJ

From Wikipedia, the free encyclopedia


Centromere protein J
Identifiers
Symbol(s) CENPJ; LAP; LIP1; BM032; CPAP; MCPH6; MGC131581; MGC131582; MGC142222; MGC142224
External IDs OMIM: 609279 MGI: 2684927 HomoloGene: 10204
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 55835 219103
Ensembl ENSG00000151849 ENSMUSG00000064128
Uniprot Q9HC77 n/a
Refseq NM_018451 (mRNA)
NP_060921 (protein)		 NM_001014996 (mRNA)
NP_001014996 (protein)
Location Chr 13: 24.36 - 24.4 Mb Chr 14: 55.48 - 55.53 Mb
Pubmed search [1] [2]

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]

[edit] References

  1. ^ a b Entrez Gene: CENPJ centromere protein J.

[edit] 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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