KIF5A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKIF5A, D12S1889, MY050, NKHC, SPG10, kinesin family member 5A, NEIMY, ALS25
External IDsOMIM: 602821 MGI: 109564 HomoloGene: 55861 GeneCards: KIF5A
Orthologs
SpeciesHumanMouse
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 MbChr 10: 127.06 – 127.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000155980 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ a b "Entrez Gene: KIF5A kinesin family member 5A".
  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.
  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.

Further reading

External links


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