Kif1A Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| KIF1A Protein |
|---|
| Protein Name | Kinesin Family Member 1A (Unc-104) |
| Gene | KIF1A |
| UniProt ID | Q9Y4P4 |
| PDB IDs | 2GJM, 4BMO |
| Molecular Weight | 193 kDa |
| Subcellular Localization | Axons, microtubules |
| Protein Family | Kinesin-3 family |
KIF1A PROTEIN is a gene/protein encoding a key neuronal protein involved in synaptic function, signal transduction, and cellular homeostasis. Dysfunction of KIF1A PROTEIN is associated with neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, and related disorders.
KIF1A is a monomeric kinesin-3 motor:
- Motor domain (head): Microtubule binding and ATP hydrolysis
- Coiled-coil stalk: Dimerization
- Forkhead-associated (FHA) domain: Cargo binding
- C-terminal tail: Regulates motor activity
- Monomeric: Unusual for kinesins
- Axonal transport: Major axonal transporter
- Synaptic vesicle delivery: Transports synaptic vesicle precursors
- Mitochondrial distribution: Distributes mitochondria in axons
- Endolysosomal trafficking: Moves endocytic vesicles
- Neuronal development: Essential for axon guidance
- Mutations cause pure HSP
- Impaired axonal transport
- Corticospinal tract degeneration
- Motor neuron-specific transport defects
- Disrupted organelle trafficking
- Mitochondrial transport impairment
- Axonal transport defects
- Mitochondrial trafficking problems
- 11025701: KIF1A mutations cause HSP. Nat Genet, 2000.
- 27260156: KIF1A in neurodegeneration. Nat Rev Neurol, 2016.
The study of Kif1A Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
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- Boyle L et al.. "Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder." HGG advances (2021). DOI: 10.1016/j.xhgg.2021.100026 PubMed: 33880452
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- Lin Q et al.. "KIF1A-associated neurological disorders: therapeutic opportunities and challenges." European journal of human genetics : EJHG (2025). DOI: 10.1038/s41431-025-01978-8 PubMed: 41310149
- Rizalar FS et al.. "Phosphatidylinositol 3,5-bisphosphate facilitates axonal vesicle transport and presynapse assembly." Science (New York, N.Y.) (2023). DOI: 10.1126/science.adg1075 PubMed: 37824668
- Chiba K et al.. "Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder." Journal of cell science (2023). DOI: 10.1242/jcs.260742 PubMed: 36655764