View source for CENPJ

{{short description|Centromere- and microtubule-associated protein}}
{{Infobox gene}}
'''Centromere protein J''' is a [[protein]] that in humans is encoded by the ''CENPJ'' [[gene]].<ref name="pmid11003675">{{cite journal | vauthors = Hung LY, Tang CJ, Tang TK | title = Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex | journal = Molecular and Cellular Biology | volume = 20 | issue = 20 | pages = 7813–25 | date = Oct 2000 | pmid = 11003675 | pmc = 86375 | doi = 10.1128/MCB.20.20.7813-7825.2000 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CENPJ centromere protein J| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55835}}</ref> It is also known as '''centrosomal P4.1-associated protein''' ('''CPAP'''). During [[cell division]], this protein plays a structural role in the maintenance of [[centrosome]] integrity and normal [[Spindle apparatus|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]].
The ''[[Drosophila]]'' ortholog, '''sas-4''', has been shown to be a [[Scaffold protein|scaffold]] for a [[cytoplasm]]ic complex of [[CDK5RAP2|Cnn]], [[CEP152|Asl]], CP-190, [[tubulin]] and D-PLP (similar to the human proteins [[PCNT]] and [[AKAP9]]). These complexes are then anchored at the [[centriole]] to begin formation of the centrosome.<ref name="pmid21694707">{{cite journal | vauthors = Gopalakrishnan J, Mennella V, Blachon S, Zhai B, Smith AH, Megraw TL, Nicastro D, Gygi SP, Agard DA, Avidor-Reiss T | title = Sas-4 provides a scaffold for cytoplasmic complexes and tethers them in a centrosome | journal = Nature Communications | volume = 2 | pages = 359 | year = 2011 | pmid = 21694707 | pmc = 3677532 | doi = 10.1038/ncomms1367 | bibcode = 2011NatCo...2..359G }}</ref>
== Clinical significance ==
Mutations in ''CENPJ'' are associated with [[Seckel syndrome]] type 4 and primary autosomal recessive [[microcephaly]], a disorder characterized by severely reduced [[brain]] size and [[intellectual disability]].<ref name="entrez" /><ref name="pmid20522431">{{cite journal|vauthors=Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS|date=Jun 2010|title=Novel CENPJ mutation causes Seckel syndrome|journal=Journal of Medical Genetics|volume=47|issue=6|pages=411–4|doi=10.1136/jmg.2009.076646|pmid=20522431|s2cid=35159613}}</ref><ref>{{cite journal|vauthors=Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W|year=2006|title=A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly|journal=Journal of Human Genetics|volume=51|issue=9|pages=760–4|doi=10.1007/s10038-006-0017-1|pmid=16900296|doi-access=free}}</ref> Interestingly, CENPJ interacts with other microcephaly aossciated proteins such as [[WDR62]] and both coordinate a regulatory function neocortical development and brain growth. <ref> {{cite journal | vauthors = Shohayeb, B, et al. | title = The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development | journal =  Human Molecular Genetics| volume = 29 | issue = 2 | pages = 248–263 |date=January 2020 | doi = 10.1093/hmg/ddz281 | pmid = 31816041 | doi-access = free }}</ref>
== Interactions ==
CENPJ has been shown to [[Protein-protein interaction|interact]] with [[EPB41]].<ref name="pmid11003675"/>
== See also ==
* ''[[CENPE]]''
* ''[[CENPF]]''
* ''[[CENPT]]''
== References ==
{{reflist|32em}}
== Further reading ==
{{refbegin|32em}}
* {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = Sep 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 | doi-access = free }}
* {{cite journal | vauthors = Iouzalen N, Andreae S, Hannier S, Triebel F | title = 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 | journal = European Journal of Immunology | volume = 31 | issue = 10 | pages = 2885–91 | date = Oct 2001 | pmid = 11592063 | doi = 10.1002/1521-4141(2001010)31:10<2885::AID-IMMU2885>3.0.CO;2-2 | s2cid = 26417417 }}
* {{cite journal | vauthors = Tchernev VT, Mansfield TA, Giot L, Kumar AM, Nandabalan K, Li Y, Mishra VS, Detter JC, Rothberg JM, Wallace MR, Southwick FS, Kingsmore SF | title = The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins | journal = Molecular Medicine | volume = 8 | issue = 1 | pages = 56–64 | date = Jan 2002 | pmid = 11984006 | pmc = 2039936 | doi =  10.1007/BF03402003}}
* {{cite journal | vauthors = Peng B, Sutherland KD, Sum EY, Olayioye M, Wittlin S, Tang TK, Lindeman GJ, Visvader JE | title = CPAP is a novel stat5-interacting cofactor that augments stat5-mediated transcriptional activity | journal = Molecular Endocrinology | volume = 16 | issue = 9 | pages = 2019–33 | date = Sep 2002 | pmid = 12198240 | doi = 10.1210/me.2002-0108 | doi-access = free }}
* {{cite journal | vauthors = Leal GF, Roberts E, Silva EO, Costa SM, Hampshire DJ, Woods CG | title = A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2 | journal = Journal of Medical Genetics | volume = 40 | issue = 7 | pages = 540–2 | date = Jul 2003 | pmid = 12843329 | pmc = 1735531 | doi = 10.1136/jmg.40.7.540 }}
* {{cite journal | vauthors = Hung LY, Chen HL, Chang CW, Li BR, Tang TK | title = Identification of a novel microtubule-destabilizing motif in CPAP that binds to tubulin heterodimers and inhibits microtubule assembly | journal = Molecular Biology of the Cell | volume = 15 | issue = 6 | pages = 2697–706 | date = Jun 2004 | pmid = 15047868 | pmc = 420094 | doi = 10.1091/mbc.E04-02-0121 }}
* {{cite journal | vauthors = Koyanagi M, Hijikata M, Watashi K, Masui O, Shimotohno K | title = Centrosomal P4.1-associated protein is a new member of transcriptional coactivators for nuclear factor-kappaB | journal = The Journal of Biological Chemistry | volume = 280 | issue = 13 | pages = 12430–7 | date = Apr 2005 | pmid = 15687488 | doi = 10.1074/jbc.M410420200 | doi-access = free }}
* {{cite journal | vauthors = Bond J, Roberts E, Springell K, Lizarraga SB, Lizarraga S, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG | title = A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size | journal = Nature Genetics | volume = 37 | issue = 4 | pages = 353–5 | date = Apr 2005 | pmid = 15793586 | doi = 10.1038/ng1539 | s2cid = 1763877 }}
* {{cite journal | vauthors = Cho JH, Chang CJ, Chen CY, Tang TK | title = Depletion of CPAP by RNAi disrupts centrosome integrity and induces multipolar spindles | journal = Biochemical and Biophysical Research Communications | volume = 339 | issue = 3 | pages = 742–7 | date = Jan 2006 | pmid = 16316625 | doi = 10.1016/j.bbrc.2005.11.074 }}
* {{cite journal | vauthors = Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S | title = Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes | journal = Genome Research | volume = 16 | issue = 1 | pages = 55–65 | date = Jan 2006 | pmid = 16344560 | pmc = 1356129 | doi = 10.1101/gr.4039406 }}
* {{cite journal | vauthors = Chen CY, Olayioye MA, Lindeman GJ, Tang TK | title = CPAP interacts with 14-3-3 in a cell cycle-dependent manner | journal = Biochemical and Biophysical Research Communications | volume = 342 | issue = 4 | pages = 1203–10 | date = Apr 2006 | pmid = 16516142 | doi = 10.1016/j.bbrc.2006.02.089 }}
* {{cite journal | vauthors = Evans PD, Vallender EJ, Lahn BT | title = Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ | journal = Gene | volume = 375 | pages = 75–9 | date = Jun 2006 | pmid = 16631324 | doi = 10.1016/j.gene.2006.02.019 }}
* {{cite journal | vauthors = Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY | title = A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration | journal = Cell | volume = 125 | issue = 4 | pages = 801–14 | date = May 2006 | pmid = 16713569 | doi = 10.1016/j.cell.2006.03.032 | s2cid = 13709685 | doi-access = free }}
{{refend}}
==External links==
* {{UCSC gene info|CENPJ}}
* {{PDBe-KB2|Q9HC77|Centromere protein J}}
{{Chromosome genetics}}
[[Category:Genes mutated in mice]]