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Data suggest that the single G-box domain (that appears to fold into 14-20 antiparallel beta-strands) of cenpj has stable but dynamic structure; CRAP forms multimers (in solution and in crystals) of elongated fibrils similar to amyloid fibrils. [REVIEW]
CPAP acts as a horizontal "strut" that joins the centriolar scaffold with microtubules, whereas G-box domains form perpendicular connections.
CPAP-S467D protein has a low affinity for microtubule binding but a high affinity for pericentriolar material proteins.
CPAP promotes timely cilium disassembly to maintain neural progenitor pool. CPAP mutation causes Seckel syndrome with microcephaly.
Data suggest that the single G-box domain (that appears to fold into 14-20 antiparallel beta-strands) of CENPJ has stable but dynamic structure; CRAP forms multimers (in solution and in crystals) of elongated fibrils similar to amyloid fibrils. [REVIEW]
Centrobin plays a role in the stability and centriole elongation function of CPAP and limits the centriole length.
studies provide the first structural insight into how the malfunction of centriole proteins results in human disease and also reveal that the CPAP-STIL interaction constitutes a conserved key step in centriole biogenesis
The results showed a human-specific hypomethylation in the 5' UTR of CENPJ in the brain, where methylation levels among humans are only about one-third of those found among nonhuman primates.
Centrobin-CPAP interaction is critical for the recruitment of CPAP to procentrioles to promote the elongation of daughter centrioles and for the persistence of CPAP on preexisting mother centrioles.
CPAP depletion results in asymmetric spindle poles with uneven distribution of pericentriolar material.
Sas-4 acts as a vehicle to tether PCM (zeige PCMT1 Proteine) complexes to centrioles independent of its well-known role in centriole duplication
CEP120 associates with SPICE1 and CPAP, and depletion of any of these proteins results in short procentrioles. Furthermore, CEP120 or CPAP overexpression results in excessive centriole elongation, a process dependent on CEP120, SPICE1, and CPAP.
CPAP regulates progenitor divisions and neuronal migration in the cerebral cortex downstream of Ascl1 (zeige ASCL1 Proteine).
Sas4-/- mutants lack primary cilia and therefore cannot respond to Hedgehog (zeige SHH Proteine) signals, but other developmental signaling pathways are normal in the mutants.
we have developed a mouse (Cenpj(tm/tm (zeige THBD Proteine))) that recapitulates many of the clinical features of Seckel syndrome, thus providing clear confirmation that specific mutations of CENPJ can cause Seckel syndrome.
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.
centromere protein J
, LAG-3-associated protein
, LYST-interacting protein 1
, LYST-interacting protein LIP1
, LYST-interacting protein LIP7
, centrosomal P4.1-associated protein