CENPJ

Centromere protein J is a protein that in humans is encoded by the CENPJ gene.^[5][6] 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.

CENPJ
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5ITZ
Identifiers
Aliases	CENPJ, BM032, CENP-J, CPAP, LAP, LIP1, MCPH6, SASS4, SCKL4, Sas-4, centromere protein J
External IDs	OMIM: 609279; MGI: 2684927; HomoloGene: 10204; GeneCards: CENPJ; OMA:CENPJ - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q12.12-q12.13 Start 24,882,279 bp[1] End 24,922,889 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 C3 Start 56,764,218 bp[2] End 56,812,882 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm left lobe of thyroid gland right lobe of thyroid gland right hemisphere of cerebellum right testis left testis gonad testicle ventricular zone ganglionic eminence Top expressed in secondary oocyte zygote primary oocyte genital tubercle tail of embryo hand granulocyte ventricular zone ganglionic eminence epiblast More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein kinase binding protein domain specific binding tubulin binding identical protein binding transcription corepressor activity Cellular component cytoplasm microtubule organizing center gamma-tubulin small complex cytosol centrosome microtubule cytoskeleton centriole nucleoplasm plasma membrane ciliary basal body nucleus Biological process regulation of centriole replication centriole replication microtubule polymerization G2/M transition of mitotic cell cycle microtubule nucleation centriole elongation cell division ciliary basal body-plasma membrane docking regulation of G2/M transition of mitotic cell cycle smoothened signaling pathway motile cilium assembly centrosome duplication centriole assembly positive regulation of non-motile cilium assembly non-motile cilium assembly positive regulation of centriole elongation positive regulation of establishment of protein localization negative regulation of nucleic acid-templated transcription Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55835 219103 Ensembl ENSG00000151849 ENSMUSG00000064128 UniProt Q9HC77 Q569L8 RefSeq (mRNA) NM_018451 NM_001014996 RefSeq (protein) NP_060921 NP_001014996 NP_001390462 NP_001390463 Location (UCSC) Chr 13: 24.88 – 24.92 Mb Chr 14: 56.76 – 56.81 Mb PubMed search [3] [4]
Wikidata
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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.^[7]

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.^[6][8][9] Interestingly, CENPJ interacts with other microcephaly aossciated proteins such as WDR62 and both coordinate a regulatory function neocortical development and brain growth. ^[10]

Interactions

CENPJ has been shown to interact with EPB41.^[5]

See also

• CENPE
• CENPF
• CENPT