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 mental retardation. 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. Inhibits microtubule nucleation from the centrosome. Required for centriole elongation and for STIL-mediated centriole amplification (PubMed:22020124).