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; OMA:KIF5A - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	57,586,633 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	127,099,217 bp
RNA expression pattern
	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
	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
	3798
	16572
	ENSG00000155980
	ENSMUSG00000074657
	Q12840
	P33175
	NM_004984; NM_001354705; NM_032624
	NM_001039000; NM_008447
	NP_004975; NP_001341634
	NP_001034089; NP_032473
	Wikidata
View/Edit Human	View/Edit Mouse

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]

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000155980 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000074657 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Hamlin PJ, Jones PF, Leek JP, Bransfield K, Lench NJ, Aldersley MA, et al. (February 1999). "Assignment of GALGT encoding beta-1, 4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosome band 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization. medjph@stjames.leeds.ac.uk". Cytogenetics and Cell Genetics. 82 (3–4): 267–8. doi:10.1159/000015115. PMID 9858832. S2CID 84466204.
^ Reid E, Dearlove AM, Rhodes M, Rubinsztein DC (September 1999). "A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity". American Journal of Human Genetics. 65 (3): 757–63. doi:10.1086/302555. PMC 1377983. PMID 10441583.
^ ^a ^b "Entrez Gene: KIF5A kinesin family member 5A".
^ 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.
^ Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, et al. (November 2002). "A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)". American Journal of Human Genetics. 71 (5): 1189–94. doi:10.1086/344210. PMC 385095. PMID 12355402.
^ Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, et al. (March 2018). "Genome-wide Analyses Identify KIF5A as a Novel ALS Gene". Neuron. 97 (6): 1268–1283.e6. doi:10.1016/j.neuron.2018.02.027. PMC 5867896. PMID 29566793.
^ Wang Q, Tian J, Chen H, Du H, Guo L (July 2019). "Amyloid beta-mediated KIF5A deficiency disrupts anterograde axonal mitochondrial movement". Neurobiology of Disease. 127: 410–418. doi:10.1016/j.nbd.2019.03.021. PMID 30923004. S2CID 85496004.

External links

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

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000155980 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000074657 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9858832-5] Hamlin PJ, Jones PF, Leek JP, Bransfield K, Lench NJ, Aldersley MA, et al. (February 1999). "Assignment of GALGT encoding beta-1, 4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosome band 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization. medjph@stjames.leeds.ac.uk". Cytogenetics and Cell Genetics. 82 (3–4): 267–8. doi:10.1159/000015115. PMID 9858832. S2CID 84466204.

[pmid10441583-6] Reid E, Dearlove AM, Rhodes M, Rubinsztein DC (September 1999). "A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity". American Journal of Human Genetics. 65 (3): 757–63. doi:10.1086/302555. PMC 1377983. PMID 10441583.

[entrez-7] "Entrez Gene: KIF5A kinesin family member 5A".

[pmid9624122-8] 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.

[pmid10491391-9] 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.

[10] Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, et al. (November 2002). "A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)". American Journal of Human Genetics. 71 (5): 1189–94. doi:10.1086/344210. PMC 385095. PMID 12355402.

[11] Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, et al. (March 2018). "Genome-wide Analyses Identify KIF5A as a Novel ALS Gene". Neuron. 97 (6): 1268–1283.e6. doi:10.1016/j.neuron.2018.02.027. PMC 5867896. PMID 29566793.

[12] Wang Q, Tian J, Chen H, Du H, Guo L (July 2019). "Amyloid beta-mediated KIF5A deficiency disrupts anterograde axonal mitochondrial movement". Neurobiology of Disease. 127: 410–418. doi:10.1016/j.nbd.2019.03.021. PMID 30923004. S2CID 85496004.

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KIF5A

Interactions

Clinical significance

References

Further reading

External links