KIF1A
Kinesin Family Member 1A
Gene Information Card
| Symbol | KIF1A |
|---|---|
| Full Name | Kinesin Family Member 1A |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 547 ncbi.nlm.nih.gov/gene/547 |
| Ensembl ID | ENSG00000130294 |
| UniProt ID | Q12756 |
| OMIM ID | 601255 |
| HGNC ID | 888 |
| Aliases | UNC104, KIAA1403, ATSV, SPG30, HSN2C |
Description
KIF1A encodes a member of the kinesin-3 family of microtubule-associated motor proteins. This protein is involved in anterograde axonal transport of synaptic vesicle precursors and other cargoes along microtubules. Mutations in KIF1A are associated with hereditary sensory and autonomic neuropathy type 2 (HSAN2), spastic paraplegia 30 (SPG30), and other neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) | Loss-of-function mutations impair axonal transport of synaptic vesicles, leading to sensory neuron degeneration. | ClinVar, OMIM |
| Spastic Paraplegia 30 (SPG30) | Missense mutations disrupt motor activity or microtubule binding, causing corticospinal tract degeneration. | ClinVar, OMIM |
| Intellectual Disability (non-syndromic) | De novo missense variants affect ATPase or motor domain function, impairing neuronal development. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Spinal cord | 8.2 | Medium |
| Testis | 4.1 | Low |
| Adrenal gland | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.755C>T (p.Thr252Met) | Missense | Rare | Reduced ATPase activity and motor velocity |
| c.914G>A (p.Arg305Gln) | Missense | Rare | Impaired microtubule binding |
| c.1120C>T (p.Arg374Trp) | Missense | Rare | Dominant-negative effect on dimerization |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations leading to truncated protein or nonsense-mediated decay, causing HSAN2.
Gain of Function (GOF)
Not well documented; some missense variants may increase motor activity but are rare.
Dominant Negative (DN)
Missense mutations in the motor domain (e.g., p.Arg374Trp) that disrupt dimerization and impair wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • Microtubule motor activity (GO:0003777) | • ATP binding (GO:0005524) |
| • Anterograde axonal transport (GO:0008089) | • Synaptic vesicle transport (GO:0048488) |
Pathways
• Kinesin-mediated transport (Reactome: R-HSA-983189)
• Axonal transport (KEGG: hsa04721)
Protein Summary
KIF1A is a kinesin-3 family motor protein that transports synaptic vesicle precursors and other cargoes along microtubules in neurons. It contains an N-terminal motor domain, a coiled-coil stalk, and a C-terminal cargo-binding domain. Mutations in KIF1A disrupt axonal transport, leading to peripheral neuropathy and spastic paraplegia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF1A Knockout HEK293 Cell Line | EDJ-KQ4116 | Human | 547 | Details Get a Quote |
| KIF1A Knockout HeLa Cell Line | EDJ-KQ52697 | Human | 547 | Details Get a Quote |
| KIF1A Knockout A-549 Cell Line | EDJ-KQ61168 | Human | 547 | Details Get a Quote |
| KIF1A Knockout HCT 116 Cell Line | EDJ-KQ69656 | Human | 547 | Details Get a Quote |
