Aliases for KIF1A Gene
External Ids for KIF1A Gene
Previous HGNC Symbols for KIF1A Gene
Previous GeneCards Identifiers for KIF1A Gene
The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
GeneCards Summary for KIF1A Gene
KIF1A (Kinesin Family Member 1A) is a Protein Coding gene. Diseases associated with KIF1A include Spastic Paraplegia 30, Autosomal Recessive and Neuropathy, Hereditary Sensory, Type Iic. Among its related pathways are Golgi-to-ER retrograde transport and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF1B.
UniProtKB/Swiss-Prot Summary for KIF1A Gene
Motor for anterograde axonal transport of synaptic vesicle precursors. Also required for neuronal dense core vesicles (DCVs) transport to the dendritic spines. The interaction calcium-dependent with CALM1 increases vesicle motility and interaction with the scaffolding proteins PPFIA2 and TANC2 recruits DCVs to synaptic sites.