KIF5C
Domain
Composed of three structural domains: a large globular N-terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other proteins (such as the kinesin light chains), vesicles and membranous organelles.
Function
Microtubule-associated force-producing protein that may play a role in organelle transport. Has ATPase activity (By similarity). Involved in synaptic transmission (PubMed:24812067). Mediates dendritic trafficking of mRNAs (By similarity). Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity).
Involvement in disease
Cortical dysplasia, complex, with other brain malformations 2
CDCBM2
A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily.
Tissue Specificity
Highest expression in brain, prostate and testis, and moderate expression in kidney, small intestine and ovary.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cell projection
- Dendrite
- Abundant in distal regions of dendrites.
Alternative names
KIAA0531, NKHC2, KIF5C, Kinesin heavy chain isoform 5C, Kinesin heavy chain neuron-specific 2, Kinesin-1