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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 mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Early spermatids, Spermatocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (HEL)

Interaction

Forms homodimers (PubMed:27219064). Associates with microtubules plus ends; binds to beta-tubulin subunits exposed on microtubule outer surface at its distal tip; also associates with microtubule lattice (PubMed:19131341, PubMed:27219064, PubMed:27306797). Associated with the gamma-tubulin complex. Interacts with the head domain of EPB41 (PubMed:11003675). Interacts with LYST (PubMed:11984006). Interacts with CEP152 (via C-terminus) (PubMed:20852615). Interacts with STIL (PubMed:22020124, PubMed:25385835). Forms a complex with STIL and SASS6 (PubMed:22020124).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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