Centromere protein J is a
protein that in humans is encoded by the CENPJgene.[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.
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]
Iouzalen N, Andreae S, Hannier S, Triebel F (Oct 2001). "LAP, a lymphocyte activation gene-3 (LAG-3)-associated protein that binds to a repeated EP motif in the intracellular region of LAG-3, may participate in the down-regulation of the CD3/TCR activation pathway". European Journal of Immunology. 31 (10): 2885–91.
doi:
10.1002/1521-4141(2001010)31:10<2885::AID-IMMU2885>3.0.CO;2-2.
PMID11592063.
S2CID26417417.
Centromere protein J is a
protein that in humans is encoded by the CENPJgene.[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.
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]
Iouzalen N, Andreae S, Hannier S, Triebel F (Oct 2001). "LAP, a lymphocyte activation gene-3 (LAG-3)-associated protein that binds to a repeated EP motif in the intracellular region of LAG-3, may participate in the down-regulation of the CD3/TCR activation pathway". European Journal of Immunology. 31 (10): 2885–91.
doi:
10.1002/1521-4141(2001010)31:10<2885::AID-IMMU2885>3.0.CO;2-2.
PMID11592063.
S2CID26417417.