KIF1C

The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive.

Full Name

kinesin family member 1C

Function

Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility.

Biological Process

Anterograde neuronal dense core vesicle transportISS:ARUK-UCL
Cytoskeleton-dependent intracellular transportManual Assertion Based On ExperimentIBA:GO_Central
Microtubule-based movementManual Assertion Based On ExperimentIBA:GO_Central
Retrograde neuronal dense core vesicle transportISS:ARUK-UCL
Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulumManual Assertion Based On ExperimentTAS:ProtInc
Vesicle-mediated transportManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Cytoplasm, cytoskeleton

Involvement in disease

Spastic ataxia 2, autosomal recessive (SPAX2):
A neurologic disorder characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected.

PTM

Phosphorylated on tyrosine residues.