KIF5A
Kinesin Family Member 5A: A Key Motor Protein in Neuronal Transport and Disease
Gene Information Card
| Symbol | KIF5A |
|---|---|
| Full Name | Kinesin Family Member 5A |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 3798 ncbi.nlm.nih.gov/gene/3798 |
| Ensembl ID | ENSG00000155980 |
| UniProt ID | Q12840 |
| OMIM ID | 602821 |
| HGNC ID | 6323 |
| Aliases | NKHC, NKHC1, SPG10, KNS1, KIF5A |
Description
KIF5A encodes a member of the kinesin-1 family of microtubule-based motor proteins. This protein is involved in anterograde transport of cargoes such as vesicles, organelles, and mRNA along microtubules, particularly in neurons. Mutations in KIF5A are associated with several neurodegenerative disorders, including hereditary spastic paraplegia type 10 (SPG10), Charcot-Marie-Tooth disease type 2, and amyotrophic lateral sclerosis (ALS).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 10 (SPG10) | Missense mutations in the motor domain impair microtubule binding and processivity, leading to axonal transport defects | ClinVar, OMIM |
| Charcot-Marie-Tooth Disease Type 2 (CMT2) | Dominant mutations affecting the motor domain or tail domain disrupt axonal transport in peripheral nerves | ClinVar, OMIM |
| Amyotrophic Lateral Sclerosis (ALS) | Loss-of-function mutations in the C-terminal tail domain cause impaired cargo binding and transport, leading to motor neuron degeneration | ClinVar, OMIM |
| Neonatal Intractable Myoclonus | Rare de novo missense mutations in the motor domain associated with severe early-onset epilepsy | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | High |
| Spinal Cord | 9.8 | Medium |
| Testis | 6.5 | Medium |
| Heart | 4.2 | Low |
| Skeletal Muscle | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HeLa | 2.1 | Low expression |
| HEK293 | 1.8 | Low expression |
| U-87 MG (glioblastoma) | 8.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.914C>T (p.Thr305Met) | Missense | Rare | Reduced microtubule binding; associated with SPG10 |
| c.610C>T (p.Arg204Cys) | Missense | Rare | Impaired motor processivity; associated with CMT2 |
| c.2990G>A (p.Arg997His) | Missense | Rare | Disrupted cargo binding; associated with ALS |
| c.3020G>A (p.Arg1007Gln) | Missense | Rare | Dominant negative effect; associated with ALS |
Mutation functional classification
Loss of Function (LOF)
C-terminal tail domain mutations (e.g., p.Arg997His) impair cargo binding and transport, leading to ALS.
Gain of Function (GOF)
Not well characterized; some motor domain mutations may alter ATPase activity.
Dominant Negative (DN)
Motor domain mutations (e.g., p.Thr305Met) can interfere with wild-type kinesin function, causing SPG10.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • microtubule binding | • anterograde axonal transport |
| • vesicle transport along microtubule |
Pathways
• Axonal transport
• Kinesin-mediated cargo transport
• Neurodegenerative disease pathways
Protein Summary
KIF5A is a 1027-amino acid protein that forms a homotetrameric kinesin-1 complex. It contains an N-terminal motor domain that binds microtubules and hydrolyzes ATP, a coiled-coil stalk domain for dimerization, and a C-terminal tail domain that binds cargo. The protein is essential for anterograde transport in neurons, and its dysfunction leads to axonal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF5A Knockout HEK293 Cell Line | EDJ-KQ5058 | Human | 3798 | Details Get a Quote |
| KIF5A Knockout A-549 Cell Line | EDJ-KQ27966 | Human | 3798 | Details Get a Quote |
| KIF5A Knockout HCT 116 Cell Line | EDJ-KQ27967 | Human | 3798 | Details Get a Quote |
| KIF5A Knockout HeLa Cell Line | EDJ-KQ53733 | Human | 3798 | Details Get a Quote |
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