KIF5A Gene Summary [Human]
This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | KIF5A |
| Official Name | kinesin family member 5A [Source:HGNC Symbol;Acc:HGNC:6323] |
| Ensembl ID | ENSG00000155980 |
| Bio databases IDs | |
| Aliases | kinesin family member 5A, neuron-specific kinesin heavy chain |
| Synonyms | ALS25, D10Bwg0738e, D12S1889, Khc, Khc-a, Kif5, kinesin family member 5A, Kns, mKIAA4086, MY050, NEIMY, NKHC, NKHC1, SPG10 |
| 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 KIF5A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Myosin and Kinesin motor domain
- helix-rich Mycoplasma protein
- protein binding
- Bin/Amphiphysin/Rvs domain
- head domain
- microtubule motor protein
- kinesin binding
- Kinesin motor, catalytic domain
- microtubule binding
- binding protein
- Kinesin motor domain
- tail domain
- motor protein
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insomnia
- seizures
- amyotrophic lateral sclerosis
- non-insulin-dependent diabetes mellitus
- hereditary spastic paraplegia autosomal dominant 10
- spastic paraplegia
- metabolic syndrome X
- susceptibility to amyotrophic lateral sclerosis type 25
- neonatal intractable myoclonus
- peripheral neuropathy
role in cell
- quantity
- accumulation in
- degeneration
- expression in
- survival
- formation
- formation in
- stabilization
- movement by
- transport
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
- cytoplasmic mRNA processing body
- transition region of growth cone
- perinuclear region
- cellular membrane
- microtubules
- cytosol
- ciliary rootlet
- growth cone
- neurites
- perikaryon
- axons
- dendrites
- dendritic shafts
- plasma
- apical processes
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KIF5A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vesicle-mediated transport
- synaptic vesicle transport
- synaptic transmission
- axon guidance
- microtubule-based movement
Cellular Component
Where in the cell the gene product is active
- ciliary rootlet
- perinuclear region of cytoplasm
- membrane
- dendrite cytoplasm
- cytosol
- kinesin complex
- synapse
- perikaryon
- microtubule
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding
- kinesin binding
- plus-end-directed microtubule motor activity
- microtubule binding
- motor activity