CAMSAP1
Domain
The CKK domain binds microtubules.
Function
Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19508979, PubMed:21834987, PubMed:24117850, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus-ends and stabilizes microtubules (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, tracks along the growing tips of minus-end microtubules without significantly affecting the polymerization rate: binds at the very tip of the microtubules minus-end and acts as a minus-end tracking protein (-TIP) that dissociates from microtubules after allowing tubulin incorporation (PubMed:24486153, PubMed:24706919). Through interaction with spectrin may regulate neurite outgrowth (PubMed:24117850).
Involvement in disease
Cortical dysplasia, complex, with other brain malformations 12
CDCBM12
An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM12 is characterized by severe to profound neurodevelopmental delay, microcephaly, cortical visual impairment, craniofacial dysmorphism, and seizures. Brain imaging shows lissencephaly, severe hypoplasia or absence of the corpus callosum, cerebellar hypodysplasia, and dysplasia of the basal ganglia, hippocampus and midbrain.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CAMSAP1 family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Associates with the minus-end of microtubules (PubMed:24486153, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, does not form stretches of decorated microtubule minus-ends (PubMed:24486153, PubMed:24706919).
Alternative names
Calmodulin-regulated spectrin-associated protein 1, CAMSAP1