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May play a role in cell-cycle-dependent microtubule organization.
Gene References into Functions
Microtubule-independent but desmoplakin-dependent localization of CSPP-L to desmosomes occurs in apical-basal polarized epithelial cells. CSPP-L depletion promoted multi-lumen spheroid formation in Caco-2 cells. PMID: 26241740
Differential expression of a nuclear CSPP1 isoform identified biologically and clinically distinct subgroups of basal-like breast carcinoma. PMID: 24901235
mutations in CSPP1 were associated with variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele PMID: 24360803
Our data suggest that CSPP1 is required for proper primary cilium formation or stability and that CSPP1 mutations result in abnormal mid-hindbrain development. PMID: 24360807
CSPP1 mutations are a major cause of the Joubert-Jeune phenotype in humans. PMID: 24360808
CSPP isoforms require their common C-terminal domain to interact with Nephrocystin 8 (NPHP8/RPGRIP1L) and to form a ternary complex with NPHP8 and NPHP4. PMID: 20519441
Novel centrosome/microtubule-associated coiled-coil protein (CSPP)is associated with centrosomes and microtubules and may play a role in the regulation of G(1)/S-phase progression and spindle assembly [CSPP]. PMID: 15580290
Taken together, CSPP and CSPP-L interact with centrosomes and microtubules and can differently affect microtubule organization. PMID: 16826565
Taken together, CSPP and CSPP-L interact with centrosomes and microtubules and can differently affect microtubule organization.[CSPP-L] PMID: 16826565
CSPP interacts with and recruits MyoGEF to the central spindle, where MyoGEF contributes to the spatiotemporal regulation of cytokinesis. PMID: 19129481
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Involvement in disease
Joubert syndrome 21 (JBTS21)
Subcellular Location
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Associated with mitotic spindles.
Tissue Specificity
Expressed in adult and fetal brain with enrichment in the cerebellum. Detected in testis.