CENPJ

Description

The CENPJ (centromere protein J) is a protein-coding gene located on chromosome 13.

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). 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.

== 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. Interestingly, CENPJ interacts with other microcephaly aossciated proteins such as WDR62 and both coordinate a regulatory function neocortical development and brain growth.

== Interactions == CENPJ has been shown to interact with EPB41.

== See also == CENPE CENPF CENPT

== References ==

== Further reading ==

== External links == Human CENPJ genome location and CENPJ gene details page in the UCSC Genome Browser.

CENPJ plays a critical role in cell division and centrosome function, participating in centriole duplication. It inhibits microtubule nucleation from the centrosome and regulates the slow, processive growth of centriolar microtubules. As a microtubule plus-end tracking protein, CENPJ stabilizes centriolar microtubules and inhibits microtubule polymerization and extension from the distal ends of centrioles. It is required for centriole elongation and STIL-mediated centriole amplification. CENPJ is also essential for the recruitment of CEP295 to the proximal end of new-born centrioles during early S phase, in a PLK4-dependent manner. CENPJ may be involved in controlling centriolar-microtubule growth by acting as a regulator of tubulin release.

CENPJ is also known as BM032, CENP-J, CPAP, LAP, LIP1, MCPH6, SASS4, SCKL4, Sas-4.

Associated Diseases

• Seckel syndrome
• Seckel syndrome 4
• Microcephaly, primary autosomal recessive, 6
• Autosomal recessive primary microcephaly