Aliases for CENPJ Gene
External Ids for CENPJ Gene
Previous HGNC Symbols for CENPJ Gene
Previous GeneCards Identifiers for CENPJ Gene
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]
GeneCards Summary for CENPJ Gene
CENPJ (Centromere Protein J) is a Protein Coding gene. Diseases associated with CENPJ include Microcephaly 6, Primary, Autosomal Recessive and Seckel Syndrome 4. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. GO annotations related to this gene include protein kinase binding and tubulin binding.
UniProtKB/Swiss-Prot for CENPJ Gene
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). May be involved in the control of centriolar-microtubule growth by acting as a regulator of tubulin release (PubMed:27306797).