From Wikipedia, the free encyclopedia
Centromere- and microtubule-associated protein
CENPJ Available structures
PDB Ortholog search:
PDBe
RCSB List of PDB id codes
5ITZ
Identifiers
Aliases
CENPJ , BM032, CENP-J, CPAP, LAP, LIP1, MCPH6, SASS4, SCKL4, Sas-4, centromere protein JExternal IDs
OMIM :
609279 ;
MGI :
2684927 ;
HomoloGene :
10204 ;
GeneCards :
CENPJ ;
OMA :
CENPJ - orthologs
Wikidata
Centromere protein J is a
protein that in humans is encoded by the CENPJ
gene .
[5]
[6] 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 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 for a
cytoplasmic complex of
Cnn ,
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.
[7]
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 .
[6]
[8]
[9] Interestingly, CENPJ interacts with other microcephaly aossciated proteins such as
WDR62 and both coordinate a regulatory function neocortical development and brain growth.
[10]
Interactions
CENPJ has been shown to
interact with
EPB41 .
[5]
See also
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000151849 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000064128 –
Ensembl , May 2017
^
"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 .
^
a
b Hung LY, Tang CJ, Tang TK (Oct 2000).
"Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex" . Molecular and Cellular Biology . 20 (20): 7813–25.
doi :
10.1128/MCB.20.20.7813-7825.2000 .
PMC
86375 .
PMID
11003675 .
^
a
b
"Entrez Gene: CENPJ centromere protein J" .
^ Gopalakrishnan J, Mennella V, Blachon S, Zhai B, Smith AH, Megraw TL, Nicastro D, Gygi SP, Agard DA, Avidor-Reiss T (2011).
"Sas-4 provides a scaffold for cytoplasmic complexes and tethers them in a centrosome" . Nature Communications . 2 : 359.
Bibcode :
2011NatCo...2..359G .
doi :
10.1038/ncomms1367 .
PMC
3677532 .
PMID
21694707 .
^ Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS (Jun 2010). "Novel CENPJ mutation causes Seckel syndrome". Journal of Medical Genetics . 47 (6): 411–4.
doi :
10.1136/jmg.2009.076646 .
PMID
20522431 .
S2CID
35159613 .
^ Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W (2006).
"A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly" . Journal of Human Genetics . 51 (9): 760–4.
doi :
10.1007/s10038-006-0017-1 .
PMID
16900296 .
^ Shohayeb, B, et al. (January 2020).
"The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development" . Human Molecular Genetics . 29 (2): 248–263.
doi :
10.1093/hmg/ddz281 .
PMID
31816041 .
Further reading
Bonaldo MF, Lennon G, Soares MB (Sep 1996).
"Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Research . 6 (9): 791–806.
doi :
10.1101/gr.6.9.791 .
PMID
8889548 .
Iouzalen N, Andreae S, Hannier S, Triebel F (Oct 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". European Journal of Immunology . 31 (10): 2885–91.
doi :
10.1002/1521-4141(2001010)31:10<2885::AID-IMMU2885>3.0.CO;2-2 .
PMID
11592063 .
S2CID
26417417 .
Tchernev VT, Mansfield TA, Giot L, Kumar AM, Nandabalan K, Li Y, Mishra VS, Detter JC, Rothberg JM, Wallace MR, Southwick FS, Kingsmore SF (Jan 2002).
"The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins" . Molecular Medicine . 8 (1): 56–64.
doi :
10.1007/BF03402003 .
PMC
2039936 .
PMID
11984006 .
Peng B, Sutherland KD, Sum EY, Olayioye M, Wittlin S, Tang TK, Lindeman GJ, Visvader JE (Sep 2002).
"CPAP is a novel stat5-interacting cofactor that augments stat5-mediated transcriptional activity" . Molecular Endocrinology . 16 (9): 2019–33.
doi :
10.1210/me.2002-0108 .
PMID
12198240 .
Leal GF, Roberts E, Silva EO, Costa SM, Hampshire DJ, Woods CG (Jul 2003).
"A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2" . Journal of Medical Genetics . 40 (7): 540–2.
doi :
10.1136/jmg.40.7.540 .
PMC
1735531 .
PMID
12843329 .
Hung LY, Chen HL, Chang CW, Li BR, Tang TK (Jun 2004).
"Identification of a novel microtubule-destabilizing motif in CPAP that binds to tubulin heterodimers and inhibits microtubule assembly" . Molecular Biology of the Cell . 15 (6): 2697–706.
doi :
10.1091/mbc.E04-02-0121 .
PMC
420094 .
PMID
15047868 .
Koyanagi M, Hijikata M, Watashi K, Masui O, Shimotohno K (Apr 2005).
"Centrosomal P4.1-associated protein is a new member of transcriptional coactivators for nuclear factor-kappaB" . The Journal of Biological Chemistry . 280 (13): 12430–7.
doi :
10.1074/jbc.M410420200 .
PMID
15687488 .
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 (Apr 2005). "A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size". Nature Genetics . 37 (4): 353–5.
doi :
10.1038/ng1539 .
PMID
15793586 .
S2CID
1763877 .
Cho JH, Chang CJ, Chen CY, Tang TK (Jan 2006). "Depletion of CPAP by RNAi disrupts centrosome integrity and induces multipolar spindles". Biochemical and Biophysical Research Communications . 339 (3): 742–7.
doi :
10.1016/j.bbrc.2005.11.074 .
PMID
16316625 .
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 (Jan 2006).
"Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" . Genome Research . 16 (1): 55–65.
doi :
10.1101/gr.4039406 .
PMC
1356129 .
PMID
16344560 .
Chen CY, Olayioye MA, Lindeman GJ, Tang TK (Apr 2006). "CPAP interacts with 14-3-3 in a cell cycle-dependent manner". Biochemical and Biophysical Research Communications . 342 (4): 1203–10.
doi :
10.1016/j.bbrc.2006.02.089 .
PMID
16516142 .
Evans PD, Vallender EJ, Lahn BT (Jun 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, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 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 .
S2CID
13709685 .
External links
Basic concepts Types Processes and evolution Structures
See also