KIF1C
Kinesin Family Member 1C
Gene Information Card
| Symbol | KIF1C |
|---|---|
| Full Name | kinesin family member 1C |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 10749 ncbi.nlm.nih.gov/gene/10749 |
| Ensembl ID | ENSG00000129250 |
| UniProt ID | O43896 |
| OMIM ID | 603060 |
| HGNC ID | 6317 |
| Aliases | KIAA1447, SPG58, MGC:20256 |
Description
KIF1C is a member of the kinesin-3 family of microtubule-based motor proteins. It functions as a plus-end-directed motor involved in the transport of vesicles, organelles, and mRNA along microtubules. KIF1C plays a critical role in axonal transport, Golgi-to-ER retrograde transport, and cell migration. Mutations in KIF1C cause autosomal recessive hereditary spastic paraplegia type 58 (SPG58), a neurodegenerative disorder characterized by progressive spasticity and weakness of the lower limbs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia 58 (SPG58) | Loss-of-function mutations impair axonal transport of synaptic vesicles and cargo, leading to neurodegeneration of corticospinal tracts. | ClinVar, OMIM |
| Spastic ataxia | Disruption of KIF1C-mediated transport in cerebellar neurons contributes to ataxia phenotype. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 15.3 | Medium |
| Spinal cord | 10.8 | Medium |
| Testis | 8.2 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.0 | Neuronal model |
| HeLa (cervical carcinoma) | 9.5 | Epithelial |
| HepG2 (hepatocellular carcinoma) | 7.2 | Liver |
| A549 (lung carcinoma) | 6.8 | Lung |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Thr35Met) | Missense | Rare | Reduced motor activity; associated with SPG58 |
| c.748C>T (p.Arg250*) | Nonsense | Rare | Premature stop; loss of function; SPG58 |
| c.1250_1251del (p.Glu417Valfs*3) | Frameshift | Rare | Truncated protein; loss of function; SPG58 |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that impair ATPase or microtubule-binding domains lead to loss of kinesin motor function, causing axonal transport deficits.
Gain of Function (GOF)
No evidence of gain-of-function mutations in KIF1C.
Dominant Negative (DN)
Not reported; all known pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • microtubule binding | • plus-end-directed microtubule movement |
| • intracellular transport | • vesicle transport along microtubule |
| • axonal transport | • Golgi-to-ER retrograde transport |
Pathways
• Kinesin-mediated transport
• Axonal transport
• Vesicle-mediated transport
Protein Summary
KIF1C encodes a 1,103-amino-acid kinesin motor protein with an N-terminal motor domain, a coiled-coil stalk, and a C-terminal cargo-binding domain. It transports vesicles and mRNA along microtubules toward the plus end. The protein is highly expressed in neurons and is essential for maintaining axonal integrity. Pathogenic mutations disrupt motor activity and cause hereditary spastic paraplegia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF1C Knockout HEK293 Cell Line | EDJ-KQ1996 | Human | 10749 | Details Get a Quote |
| KIF1C Knockout A-549 Cell Line | EDJ-KQ21998 | Human | 10749 | Details Get a Quote |
| KIF1C Knockout HCT 116 Cell Line | EDJ-KQ21999 | Human | 10749 | Details Get a Quote |
| KIF1C Knockout HeLa Cell Line | EDJ-KQ22000 | Human | 10749 | Details Get a Quote |
