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 Dominant and Nescav Syndrome. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Golgi-to-ER retrograde 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 and axons. The interaction calcium-dependent with CALM1 increases vesicle motility and interaction with the scaffolding proteins PPFIA2 and TANC2 recruits DCVs to synaptic sites.