KIF5C
Kinesin Family Member 5C: A Key Motor Protein in Neuronal Transport and Development
Gene Information Card
| Symbol | KIF5C |
|---|---|
| Full Name | Kinesin Family Member 5C |
| Gene Type | Protein coding |
| Chromosomal Location | 2q23.1 |
| NCBI Gene ID | 3800 ncbi.nlm.nih.gov/gene/3800 |
| Ensembl ID | ENSG00000168280 |
| UniProt ID | O60282 |
| OMIM ID | 604593 |
| HGNC ID | 6325 |
| Aliases | KNSL3, NKHC, NKHC-2, KIF5C_HUMAN |
Description
KIF5C (Kinesin Family Member 5C) encodes a heavy chain subunit of kinesin-1, a microtubule-associated motor protein that mediates anterograde transport of cargoes such as vesicles, organelles, and mRNA along microtubules. It is predominantly expressed in neurons and is critical for neuronal migration, axon outgrowth, and synaptic function. Mutations in KIF5C cause a spectrum of neurodevelopmental disorders, including cortical malformations, intellectual disability, and epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cortical malformation (e.g., pachygyria, polymicrogyria) | Loss-of-function mutations impair kinesin-mediated transport, disrupting neuronal migration and cortical lamination | ClinVar, OMIM |
| Intellectual disability | Defective axonal transport of synaptic proteins leads to impaired synaptic plasticity and cognitive function | ClinVar, OMIM |
| Epilepsy | Altered neuronal excitability due to disrupted transport of ion channels and synaptic vesicles | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.2 | High |
| Cerebellum | 10.8 | High |
| Spinal cord | 8.3 | Medium |
| Testis | 4.1 | Low |
| Heart | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.5 | High expression |
| U-87 MG (glioblastoma) | 11.2 | High expression |
| HEK 293 (embryonic kidney) | 3.8 | Low expression |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.914G>A (p.Arg305Gln) | Missense | Rare | Dominant-negative effect; disrupts ATPase activity and cargo binding |
| c.1642C>T (p.Arg548Trp) | Missense | Rare | Loss of function; impairs microtubule binding and motor processivity |
| c.2113G>A (p.Glu705Lys) | Missense | Rare | Gain of function?; altered motor velocity and cargo transport |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the motor domain (e.g., p.Arg548Trp) reduce ATPase activity and microtubule binding, leading to impaired anterograde transport.
Gain of Function (GOF)
Some variants (e.g., p.Glu705Lys) may increase motor velocity or alter cargo specificity, though evidence is limited.
Dominant Negative (DN)
Mutations such as p.Arg305Gln produce defective motor proteins that interfere with wild-type kinesin function, causing dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • microtubule binding | • anterograde axonal transport |
| • neuronal migration | • synaptic vesicle transport |
Pathways
• Kinesin-mediated transport
• Axonal transport
• Neuronal development
Protein Summary
KIF5C is a 957-amino-acid protein that forms a homotetrameric kinesin-1 complex. It contains an N-terminal motor domain with ATPase and microtubule-binding activities, a coiled-coil stalk for dimerization, and a C-terminal tail that binds cargo adaptors. The protein is essential for anterograde transport of vesicles, mitochondria, and mRNA in neurons, supporting axon growth and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF5C Knockout HEK293 Cell Line | EDJ-KQ1734 | Human | 3800 | Details Get a Quote |
| KIF5C Knockout HCT 116 Cell Line | EDJ-KQ22906 | Human | 3800 | Details Get a Quote |
| KIF5C Knockout HeLa Cell Line | EDJ-KQ53734 | Human | 3800 | Details Get a Quote |
| KIF5C Knockout A-549 Cell Line | EDJ-KQ62209 | Human | 3800 | Details Get a Quote |
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