KIF3C
Kinesin Family Member 3C
Gene Information Card
| Symbol | KIF3C |
|---|---|
| Full Name | kinesin family member 3C |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 3797 ncbi.nlm.nih.gov/gene/3797 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | O14782 |
| OMIM ID | 603754 |
| HGNC ID | 6320 |
| Aliases | KIF3C, Kinesin-like protein 3C, FLA10-related kinesin |
Description
KIF3C encodes a member of the kinesin superfamily of microtubule-associated motor proteins. This protein is a subunit of the heterotrimeric kinesin-II complex, which is essential for intraflagellar transport (IFT) and ciliary assembly. KIF3C is involved in anterograde transport of cargo along microtubules, particularly in cilia and flagella. It plays roles in cell division, neuronal development, and sensory perception.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Defective ciliary transport due to KIF3C dysfunction leads to photoreceptor degeneration. | ClinVar, OMIM |
| Joubert syndrome | Impaired ciliary signaling and IFT caused by KIF3C mutations contribute to cerebellar and retinal anomalies. | ClinVar, OMIM |
| Primary ciliary dyskinesia | Loss of KIF3C function disrupts ciliary motility and mucociliary clearance. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | High expression |
| HeLa | 7.8 | Moderate expression |
| SH-SY5Y | 9.5 | High expression |
| A549 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; premature stop |
| c.890A>G (p.Glu297Gly) | Missense | <0.01% | Unknown; likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) result in truncated, non-functional KIF3C protein, impairing ciliary transport.
Gain of Function (GOF)
No gain-of-function mutations reported for KIF3C.
Dominant Negative (DN)
No dominant-negative mutations reported for KIF3C.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • microtubule binding | • intraflagellar transport |
| • cilium assembly | • anterograde axonal transport |
Pathways
• Intraflagellar transport (IFT)
• Ciliary assembly and disassembly
• Hedgehog signaling pathway
Protein Summary
KIF3C is a 747-amino acid protein (UniProt O14782) that functions as a microtubule-dependent motor. It forms a heterotrimeric complex with KIF3A and KAP3 to mediate anterograde intraflagellar transport. The protein contains an N-terminal motor domain with ATPase activity, a coiled-coil stalk, and a C-terminal tail that interacts with cargo. KIF3C is essential for ciliogenesis, neuronal migration, and sensory transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF3C Knockout HEK293 Cell Line | EDJ-KQ4267 | Human | 3797 | Details Get a Quote |
| KIF3C Knockout A-549 Cell Line | EDJ-KQ27962 | Human | 3797 | Details Get a Quote |
| KIF3C Knockout HCT 116 Cell Line | EDJ-KQ27964 | Human | 3797 | Details Get a Quote |
| KIF3C Knockout HeLa Cell Line | EDJ-KQ27965 | Human | 3797 | Details Get a Quote |
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