KIF5A

Kinesin family member 5A is a protein that in humans is encoded by the KIF5A gene. It is part of the kinesin family of motor proteins.^[5][6][7]

KIF5A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4UXT, 4UXY, 4UY0
Identifiers
Aliases	KIF5A, D12S1889, MY050, NKHC, SPG10, kinesin family member 5A, NEIMY, ALS25
External IDs	OMIM: 602821; MGI: 109564; HomoloGene: 55861; GeneCards: KIF5A; OMA:KIF5A - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q13.3 Start 57,546,026 bp[1] End 57,586,633 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 D3|10 74.5 cM Start 127,061,565 bp[2] End 127,099,217 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right frontal lobe right hemisphere of cerebellum Brodmann area 9 cingulate gyrus anterior cingulate cortex prefrontal cortex ganglionic eminence C1 segment amygdala nucleus accumbens Top expressed in globus pallidus lateral geniculate nucleus superior frontal gyrus subiculum lateral hypothalamus pontine nuclei anterior amygdaloid area ventral tegmental area medial geniculate nucleus nucleus accumbens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding microtubule motor activity microtubule binding protein binding cytoskeletal motor activity plus-end-directed microtubule motor activity ATP binding kinesin binding ATPase activity Cellular component cytoplasm cytosol membrane kinesin complex soma ciliary rootlet perinuclear region of cytoplasm neuron projection microtubule cytoskeleton dendrite cytoplasm synapse axon cytoplasm Biological process protein localization cytoskeleton-dependent intracellular transport antigen processing and presentation of exogenous peptide antigen via MHC class II axon guidance chemical synaptic transmission retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum vesicle-mediated transport microtubule-based movement anterograde dendritic transport of neurotransmitter receptor complex synaptic vesicle transport anterograde axonal protein transport retrograde neuronal dense core vesicle transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3798 16572 Ensembl ENSG00000155980 ENSMUSG00000074657 UniProt Q12840 P33175 RefSeq (mRNA) NM_004984 NM_001354705 NM_032624 NM_001039000 NM_008447 RefSeq (protein) NP_004975 NP_001341634 NP_001034089 NP_032473 Location (UCSC) Chr 12: 57.55 – 57.59 Mb Chr 10: 127.06 – 127.1 Mb PubMed search [3] [4]
Wikidata
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This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multi-subunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10.^[7]

Interactions

KIF5A has been shown to interact with KLC1.^[8][9]

Clinical significance

Mutations in KIF5A have been reported to cause hereditary spastic paraplegia type 10 (SPG1).^[10]

Mutations in KIF5A have also been found to cause amyotrophic lateral sclerosis.^[11]

KIF5A has been shown to play a role in Alzheimer's disease by modulating the toxic effect of beta-amyloid on axonal transport of mitochondria.^[12]