KLC1 Gene - Kinesin Light Chain 1: Function, Mutations, and Disease Associations

KLC1 (kinesin light chain 1) encodes a member of the kinesin light chain family. The encoded protein is a light chain of kinesin-1, a microtubule-associated motor complex that transports cargoes such as vesicles, organelles, and protein complexes along microtubules toward the plus end. KLC1 interacts with kinesin heavy chain (KIF5) and various cargo adaptors, playing critical roles in neuronal transport, cell division, and intracellular signaling. Alternative splicing generates multiple isoforms with distinct cargo-binding properties.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Kinesin-mediated transport (Reactome: R-HSA-983189)

• Axonal transport (Reactome: R-HSA-983189)

• Vesicle-mediated transport (Reactome: R-HSA-5653656)

• ALK signaling in cancer (KEGG: hsa05223)

KLC1 (kinesin light chain 1) is a 569-amino acid protein (UniProt Q07866) that forms the light chain component of the kinesin-1 heterotetramer (two heavy chains, two light chains). It contains N-terminal heptad repeats for heavy chain binding and C-terminal tetratricopeptide repeat (TPR) domains for cargo recognition. KLC1 mediates the transport of vesicles, mitochondria, and protein complexes along microtubules. Alternative splicing generates isoforms with tissue-specific cargo selectivity. Post-translational modifications (e.g., phosphorylation) regulate its interaction with adaptors such as JIP1 and APP. Dysfunction is linked to neurodegenerative diseases and cancer.