KIF1A Gene Summary [Human]
The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
Details
| Type | Protein Coding |
| Official Symbol | KIF1A |
| Official Name | kinesin family member 1A [Source:HGNC Symbol;Acc:HGNC:888] |
| Ensembl ID | ENSG00000130294 |
| Bio databases IDs | |
| Aliases | kinesin family member 1A |
| Synonyms | ATSV, C2orf20, C630002N23Rik, Gm1626, HSN2C, Kin1a, Kinesin-1A, kinesin family member 1A, Kns1, LOC100362984, MRD9, NESCAVS, SPG30, SPG30A, SPG30B, UNC104 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KIF1A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Kinesin protein 1B
- Myosin and Kinesin motor domain
- catalytic domain
- Forkhead associated domain
- protein binding
- Pleckstrin homology-like domain
- motor domain
- identical protein binding
- Kinesin-associated
- forkhead associated (FHA) domain superfamily
- Kinesin motor, catalytic domain
- microtubule binding
- Kinesin protein
- FHA domain
- Kinesin motor domain
- PH domain
- plus-end-directed kinesin ATPase
- loop domain
- motor protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insomnia
- major depression
- neurodegeneration
- hereditary disorder
- hereditary spastic paraplegia
- autosomal dominant mental retardation type 9
- small cell lung cancer
- spastic paraplegia
- autosomal recessive spastic paraplegia type 30
- mental retardation
regulates
role in cell
- growth
- survival
- cell death
- morphology
- formation
- accumulation
- formation in
- development
- density
- morphogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- glutaminergic synapse
- presynaptic regions
- postsynaptic region
- microtubules
- synaptic vesicles
- neurites
- secretory granules
- perikaryon
- axons
- dendrites
- plasma
- synaptic vesicle fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KIF1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of dendritic spine morphogenesis
- vesicle-mediated transport
- anterograde axon cargo transport
- cytoskeleton-dependent intracellular transport
- regulation of dendritic spine development
- microtubule-based movement
Cellular Component
Where in the cell the gene product is active
- dendrite
- perinuclear region of cytoplasm
- kinesin complex
- synapse
- axon
- microtubule
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- identical protein binding
- protein binding
- plus-end-directed microtubule motor activity
- motor activity
- microtubule binding