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KIF1A

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.
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Horizontal cells, Cone photoreceptor cells, Bipolar cells, Rod photoreceptor cells, Muller glia cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (AN3-CA, HAP1, SCLC-21H, SH-SY5Y)

Interaction

Monomer. Interacts with PPFIA1 and PPFIA4 (By similarity). Interacts with CALM1; the interaction is increased in presence of calcium and increases neuronal dense core vesicles motility (PubMed:30021165). Interacts with PPFIA2 and TANC2; both interactions allow the recruitment of neuronal dense core vesicles to dendritic spines and decrease in presence of calcium (PubMed:30021165). Interacts with SYT4 (unphosphorylated) and SYT11; both interactions increase in presence of calcium (By similarity). Interacts with MADD (By similarity).

Molecular function

Motor protein

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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