CENPJ

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 cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]

Centromere Protein J

Plays an important role in cell division and centrosome function by participating in centriole duplication (PubMed:17681131, PubMed:20531387).
Inhibits microtubule nucleation from the centrosome. Involved in the regulation of slow processive growth of centriolar microtubules. Acts as microtubule plus-end tracking protein that stabilizes centriolar microtubules and inhibits microtubule polymerization and extension from the distal ends of centrioles (PubMed:15047868, PubMed:27219064, PubMed:27306797).
Required for centriole elongation and for STIL-mediated centriole amplification (PubMed:22020124).
Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865).
May be involved in the control of centriolar-microtubule growth by acting as a regulator of tubulin release (PubMed:27306797).

Astral microtubule nucleation Source: MGI
Cell division Source: UniProtKB
Centriole elongation Source: UniProtKB
Centriole replication Source: UniProtKB
Cliary basal body-plasma membrane docking Source: Reactome
Cilium assembly Source: GO_Central
G2/M transition of mitotic cell cycle Source: Reactome
Microtubule nucleation Source: UniProtKB
Microtubule polymerization Source: UniProtKB
Positive regulation of centriole elongation Source: UniProtKB
Positive regulation of establishment of protein localization Source: UniProtKB
Positive regulation of receptor signaling pathway via JAK-STAT Source: MGI
Regulation of centriole replication Source: UniProtKB
Regulation of G2/M transition of mitotic cell cycle Source: Reactome

Centrosome; Centriole. Localized within the center of microtubule asters (PubMed:11003675). During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles (PubMed:17681131).

Microcephaly 6, primary, autosomal recessive (MCPH6): A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Seckel syndrome 4 (SCKL4): A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.

Phosphorylation at Ser-589 and Ser-595 by PLK2 is required for procentriole formation and centriole elongation. Phosphorylation by PLK2 oscillates during the cell cycle: it increases at G1/S transition and decreases during the exit from mitosis. Phosphorylation at Ser-595 is also mediated by PLK4 but is not a critical step in PLK4 function in procentriole assembly.