ID:KIF5A_HUMAN DESCRIPTION: RecName: Full=Kinesin heavy chain isoform 5A; AltName: Full=Kinesin heavy chain neuron-specific 1; AltName: Full=Neuronal kinesin heavy chain; Short=NKHC; FUNCTION: Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL) (By similarity). SUBUNIT: Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1 (By similarity). INTERACTION: Q96NW4:ANKRD27; NbExp=4; IntAct=EBI-713468, EBI-6125599; SUBCELLULAR LOCATION: Cytoplasm, perinuclear region (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Concentrated in the cell body of the neurons, particularly in the perinuclear region (By similarity). TISSUE SPECIFICITY: Distributed throughout the CNS but is highly enriched in subsets of neurons. DOMAIN: Composed of three structural domains: a large globular N- terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other proteins (such as the kinesin light chains), vesicles and membranous organelles. DISEASE: Defects in KIF5A are the cause of spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]. An inherited degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity (stiffness) of the legs. Rate of progression and the severity of symptoms is quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SIMILARITY: Belongs to the kinesin-like protein family. Kinesin subfamily. SIMILARITY: Contains 1 kinesin-motor domain. SEQUENCE CAUTION: Sequence=BAE06127.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q12840
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006890 retrograde vesicle-mediated transport, Golgi to ER GO:0007018 microtubule-based movement GO:0007268 chemical synaptic transmission GO:0007411 axon guidance GO:0008104 protein localization GO:0016192 vesicle-mediated transport GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0030705 cytoskeleton-dependent intracellular transport GO:0098971 anterograde dendritic transport of neurotransmitter receptor complex GO:1990049 retrograde neuronal dense core vesicle transport
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
