CENPJ
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCENPJ, BM032, CENP-J, CPAP, LAP, LIP1, MCPH6, SASS4, SCKL4, Sas-4, centromere protein J
External IDsOMIM: 609279 MGI: 2684927 HomoloGene: 10204 GeneCards: CENPJ
Orthologs
SpeciesHumanMouse
Entrez

55835

219103

Ensembl

ENSG00000151849

ENSMUSG00000064128

UniProt

Q9HC77

Q569L8

RefSeq (mRNA)

NM_018451

NM_001014996

RefSeq (protein)

NP_060921

NP_001014996
NP_001390462
NP_001390463

Location (UCSC)Chr 13: 24.88 – 24.92 MbChr 14: 56.76 – 56.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000151849 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000064128 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ a b "Entrez Gene: CENPJ centromere protein J".
  7. ^ 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.
  8. ^ 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.
  9. ^ 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.
  10. ^ 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

External links

Cytogenetics: chromosomes
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