CENPJ

Centromere protein J
Identifiers
Symbols	CENPJ; BM032; CENP-J; CPAP; LAP; LIP1; MCPH6; MGC131581; MGC131582; MGC142222; MGC142224; SASS4; SCKL4; Sas-4
External IDs	OMIM: 609279 MGI: 2684927 HomoloGene: 10204 GeneCards: CENPJ Gene
Gene Ontology Molecular function • protein binding • tubulin binding • protein domain specific binding Cellular component • cytoplasm • centrosome • centriole • cytosol • cytoskeleton • microtubule • gamma-tubulin small complex Biological process • G2/M transition of mitotic cell cycle • mitotic cell cycle • microtubule nucleation • centriole replication • microtubule polymerization • cell division Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	55835	219103
Ensembl	ENSG00000151849	ENSMUSG00000064128
UniProt	Q9HC77	n/a
RefSeq (mRNA)	NM_018451	NM_001014996.2
RefSeq (protein)	NP_060921	NP_001014996.2
Location (UCSC)	Chr 13: 25.46 – 25.5 Mb	Chr 14: 57.15 – 57.19 Mb
PubMed search	[1]	[2]

Centromere protein J is a protein that in humans is encoded by the CENPJ gene. It is also known as centrosomal P4.1-associated protein (CPAP).

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.

Model organisms

Cenpj knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Normal
Homozygous Fertility	Normal
Body weight	Abnormal
Anxiety	Abnormal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Abnormal
Indirect calorimetry	Abnormal
Glucose tolerance test	Abnormal
Auditory brainstem response	Normal
DEXA	Abnormal
Radiography	Abnormal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Abnormal
Haematology	Normal
Peripheral blood lymphocytes	Abnormal
Micronucleus test	Abnormal
Heart weight	Normal
Brain histopathology	Abnormal
Eye Histopathology	Abnormal
Salmonella infection	Normal
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of CENPJ function. A conditional knockout mouse line, called Cenpj^{tm1a(EUCOMM)Wtsi} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on mutant mice and thirteen significant abnormalities were observed. Homozygous mutants were subviable, had a decreased body weight, numerous abnormal open field, body composition, X-ray imaging, peripheral blood lymphocytes and indirect calorimetry parameters, abnormal head, genitalia and tail morphology, an impaired glucose tolerance, hypoalbuminemia, a 1.5 fold increase in micronuclei, a reduction in dentate gyrus length and abnormal corneal epithelium and endothelium.

Interactions

CENPJ has been shown to interact with EPB41.

See also

• Seckel syndrome type 4

Further reading

• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
• 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. doi:10.1002/1521-4141(2001010)31:10<2885::AID-IMMU2885>3.0.CO;2-2. 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. PMC 2039936. PMID 11984006. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2039936. 
• 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. doi:10.1210/me.2002-0108. 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. doi:10.1136/jmg.40.7.540. PMC 1735531. PMID 12843329. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735531. 
• 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. PMC 420094. PMID 15047868. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=420094. 
• 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. PMC 2665288. PMID 15057823. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2665288. 
• 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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• 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. PMC 1356129. PMID 16344560. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129. 
• 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.