KIF5A

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
Gene location (Human) Chr. Chromosome 12 (human) Band 12q13.3 Start 57,546,026 bp End 57,586,633 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 D3|10 74.5 cM Start 127,061,565 bp End 127,099,217 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 9 cingulate gyrus prefrontal cortex ganglionic eminence amygdala nucleus accumbens caudate nucleus putamen anterior pituitary hypothalamus Top expressed in globus pallidus lateral geniculate nucleus superior frontal gyrus subiculum lateral hypothalamus pontine nuclei ventral tegmental area medial geniculate nucleus nucleus accumbens dorsal tegmental nucleus 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 neuronal cell body 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
Wikidata
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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.

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.

Interactions

KIF5A has been shown to interact with KLC1.

Clinical significance

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

Mutations in KIF5A have also been found to cause amyotrophic lateral sclerosis.

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.

Further reading

• Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, et al. (September 2004). "Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia". Neurology. 63 (6): 1108–10. doi:10.1212/01.wnl.0000138731.60693.d2. PMID 15452312. S2CID 10854107.
• Niclas J, Navone F, Hom-Booher N, Vale RD (May 1994). "Cloning and localization of a conventional kinesin motor expressed exclusively in neurons". Neuron. 12 (5): 1059–72. doi:10.1016/0896-6273(94)90314-X. PMID 7514426. S2CID 32927183.
• Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Rahman A, Friedman DS, Goldstein LS (June 1998). "Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins". The Journal of Biological Chemistry. 273 (25): 15395–403. doi:10.1074/jbc.273.25.15395. PMID 9624122.
• Rahman A, Kamal A, Roberts EA, Goldstein LS (September 1999). "Defective kinesin heavy chain behavior in mouse kinesin light chain mutants". The Journal of Cell Biology. 146 (6): 1277–88. doi:10.1083/jcb.146.6.1277. PMC 2156125. PMID 10491391.
• Kanai Y, Okada Y, Tanaka Y, Harada A, Terada S, Hirokawa N (September 2000). "KIF5C, a novel neuronal kinesin enriched in motor neurons". The Journal of Neuroscience. 20 (17): 6374–84. doi:10.1523/JNEUROSCI.20-17-06374.2000. PMC 6772948. PMID 10964943.
• Setou M, Seog DH, Tanaka Y, Kanai Y, Takei Y, Kawagishi M, Hirokawa N (May 2002). "Glutamate-receptor-interacting protein GRIP1 directly steers kinesin to dendrites". Nature. 417 (6884): 83–7. Bibcode:2002Natur.417...83S. doi:10.1038/nature743. PMID 11986669. S2CID 4400494.
• Macioce P, Gambara G, Bernassola M, Gaddini L, Torreri P, Macchia G, et al. (December 2003). "Beta-dystrobrevin interacts directly with kinesin heavy chain in brain". Journal of Cell Science. 116 (Pt 23): 4847–56. doi:10.1242/jcs.00805. PMID 14600269. S2CID 27097248.
• Amit I, Yakir L, Katz M, Zwang Y, Marmor MD, Citri A, et al. (July 2004). "Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding". Genes & Development. 18 (14): 1737–52. doi:10.1101/gad.294904. PMC 478194. PMID 15256501.
• Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, et al. (September 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
• Blair MA, Ma S, Hedera P (March 2006). "Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia". Neurogenetics. 7 (1): 47–50. doi:10.1007/s10048-005-0027-8. PMID 16489470. S2CID 24405076.

External links

• Overview of all the structural information available in the PDB for UniProt: Q12840 (Kinesin heavy chain isoform 5A) at the PDBe-KB.