KIF5A

Summary

Gene Symbol: KIF5A
Description: kinesin family member 5A
Alias: ALS25, D12S1889, MY050, NEIMY, NKHC, SPG10, kinesin heavy chain isoform 5A, KIF5A variant protein, kinesin heavy chain neuron-specific 1, kinesin, heavy chain, neuron-specific, neuronal kinesin heavy chain
Species: human
Products:     KIF5A

Top Publications

  1. Rahman A, Friedman D, Goldstein L. Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins. J Biol Chem. 1998;273:15395-403 pubmed
    ..These results indicate that the mammalian nervous system contains multiple kinesin light chain gene products with potentially distinct functions. ..
  2. Niclas J, Navone F, Hom Booher N, Vale R. Cloning and localization of a conventional kinesin motor expressed exclusively in neurons. Neuron. 1994;12:1059-72 pubmed
    ..thought to serve all cell types, we document here that neurons express a second conventional kinesin heavy chain (nKHC) that is 65% identical in amino acid sequence to the ubiquitously expressed kinesin heavy chain (uKHC)...
  3. Raychaudhuri S, Remmers E, Lee A, Hackett R, Guiducci C, Burtt N, et al. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet. 2008;40:1216-23 pubmed publisher
    ..1 x 10(-7) overall), CDK6 (rs42041, P = 0.010 replication, P = 4.0 x 10(-6) overall), PRKCQ (rs4750316, P = 0.0078 replication, P = 4.4 x 10(-6) overall), and KIF5A-PIP4K2C (rs1678542, P = 0.0026 replication, P = 8.8 x 10(-8) overall).
  4. Wang Q, Tian J, Chen H, Du H, Guo L. Amyloid beta-mediated KIF5A deficiency disrupts anterograde axonal mitochondrial movement. Neurobiol Dis. 2019;127:410-418 pubmed publisher
    ..b>KIF5A is a key isoform of kinesin-1, which is a key molecular machinery in facilitating anterograde axonal mitochondrial ..
  5. Elert Dobkowska E, Stepniak I, Krysa W, Ziora Jakutowicz K, Rakowicz M, Sobanska A, et al. Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. Neurogenetics. 2019;20:27-38 pubmed publisher
    ..significance (VUS) in the following genes: SPAST (spastin, SPG4), ATL1 (atlastin 1, SPG3), WASHC5 (SPG8), KIF5A (SPG10), KIF1A (SPG30), SPG11 (spatacsin), CYP27A1, SETX and ITPR1...
  6. Orsucci D, Petrucci L, Ienco E, Chico L, Simi P, Fogli A, et al. Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany. Clin Neurol Neurosurg. 2014;120:14-9 pubmed publisher
    ..SPG7 was the second genetic cause. Other genotypes were rarer (SPG10, SPG11, SPG17)...
  7. Filosto M, Piccinelli S, Palmieri I, Necchini N, Valente M, Zanella I, et al. A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome. J Clin Med. 2018;8: pubmed publisher
    ..Mutations in the KIF5A N-terminal motor domain are known to cause SPG10; An autosomal dominant hereditary spastic paraplegia (HSP), as well as rare Charcot-Marie-Tooth disease 2 (CMT2) ..
  8. Citrigno L, Magariello A, Pugliese P, Di Palma G, Conforti F, Petrone A, et al. Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia. Acta Neurol Belg. 2018;118:643-646 pubmed publisher
    ..b>KIF5A gene causes autosomal dominant spastic paraplegia 10, a neurological disorder characterized by spasticity and ..
  9. Dutta M, Diehl M, Onuchic J, Jana B. Structural consequences of hereditary spastic paraplegia disease-related mutations in kinesin. Proc Natl Acad Sci U S A. 2018;115:E10822-E10829 pubmed publisher
    A wide range of mutations in the kinesin motor Kif5A have been linked to a neuronal disorder called hereditary spastic paraplegia (HSP)...

More Information

Publications91

  1. Nam D, Yoo D, Choi S, Choi B, Chung K. Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations. Genes Genomics. 2018;40:77-84 pubmed publisher
    The kinesin heavy chain isoform 5A (KIF5A) gene, which encodes a microtubule-based motor protein, plays an important role in the transport of organelles in the nerve cells...
  2. Ungaro C, Citrigno L, Trojsi F, Sprovieri T, Gentile G, Muglia M, et al. ALS and CHARGE syndrome: a clinical and genetic study. Acta Neurol Belg. 2018;118:629-635 pubmed publisher
    ..The ALS patient had been screened negative for mutations in SOD1, TARDBP, FUS/TLS, C9orf72 and KIF5A genes...
  3. Zhang K, Liu Q, Shen D, Tai H, Liu S, Wang Z, et al. Mutation analysis of KIF5A in Chinese amyotrophic lateral sclerosis patients. Neurobiol Aging. 2019;73:229.e1-229.e4 pubmed publisher
    ..Recently, loss-of-function mutations predominately disrupting the C-terminal amino acid sequence of KIF5A via aberrant exon 27 splicing have been reported in European ALS cohorts...
  4. Koboldt D, Kastury R, Waldrop M, Kelly B, Mihalic Mosher T, McLaughlin H, et al. Inframe de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018;: pubmed publisher
    ..The p.Asn546del clusters with four pathogenic missense variants in a region that likely binds molecular motor KIF5A. Protein modeling suggests that removing the highly conserved asparagine residue alters BICD2 protein structure...
  5. Koh K, Ishiura H, Tsuji S, Takiyama Y. JASPAC: Japan Spastic Paraplegia Research Consortium. Brain Sci. 2018;8: pubmed publisher
    ..We found 119 patients with SPG4, 17 with SPG3A, 15 with SPG31, 13 with SPG11, and 11 with SPG10. Other HSP genes were the cause in less than five patients...
  6. Pareyson D, Saveri P, Sagnelli A, Piscosquito G. Mitochondrial dynamics and inherited peripheral nerve diseases. Neurosci Lett. 2015;596:66-77 pubmed publisher
    ..Indeed, mitochondrial transport involves directly or indirectly components of the kinesin superfamily (KIF5A, KIF1A, KIF1B), responsible of anterograde transport, and of the dynein complex and related proteins (DYNC1H1, ..
  7. DuRaine G, Wisner T, Howard P, Johnson D. Kinesin-1 Proteins KIF5A, -5B, and -5C Promote Anterograde Transport of Herpes Simplex Virus Enveloped Virions in Axons. J Virol. 2018;92: pubmed publisher
    ..Prominent among axonal kinesins are the kinesin-1 (KIF5A, -5B, and -5C) and kinesin-3 (e.g., KIF1A and -1B) families...
  8. Furukawa M, Sakamoto H, Inoue K. Interaction and colocalization of HERMES/RBPMS with NonO, PSF, and G3BP1 in neuronal cytoplasmic RNP granules in mouse retinal line cells. Genes Cells. 2015;20:257-66 pubmed publisher
    ..Consistent with a previous report that KIF5 interacts with neuronal granules, the localization of KIF5A overlapped with the cytoplasmic granules in differentiated RGC-5 cells...
  9. Zhou J, Scherer J, Yi J, Vallee R. Role of kinesins in directed adenovirus transport and cytoplasmic exploration. PLoS Pathog. 2018;14:e1007055 pubmed publisher
    ..The Kif5B RNAi phenotype was rescued by expression of RNAi-resistant Kif5A, B, or C, and Kif4A...
  10. Faheem M, Chaudhary A, Kumosani T, Al Qahtani M, Yasir M, Bibi F, et al. Interaction of different proteins with GABAA receptor and their modulatory effect on inhibitory neural transmission leads to epilepsy. CNS Neurol Disord Drug Targets. 2014;13:1148-59 pubmed
    ..Among many other proteins, recently identified molecular motor protein KIF5A is also involved in the GABAAR trafficking by interacting with GABARP protein...
  11. Karle K, Möckel D, Reid E, Schöls L. Axonal transport deficit in a KIF5A( -/- ) mouse model. Neurogenetics. 2012;13:169-79 pubmed publisher
    ..loci have been identified, among them SPG10, an autosomal dominant HSP caused by point mutations in the neuronal kinesin heavy chain protein KIF5A. Constitutive KIF5A knockout (KIF5A( -/- )) mice die early after birth...
  12. Campbell P, Shen K, Sapio M, Glenn T, Talbot W, Marlow F. Unique function of Kinesin Kif5A in localization of mitochondria in axons. J Neurosci. 2014;34:14717-32 pubmed publisher
    ..For example, Kif5A, but not other Kinesin-1 heavy-chain family members, is implicated in Charcot-Marie-Tooth disease (CMT) and ..
  13. Li C, Zhang Y, Levin A, Fan B, Teng H, Ghannam M, et al. Distal Axonal Proteins and Their Related MiRNAs in Cultured Cortical Neurons. Mol Neurobiol. 2019;56:2703-2713 pubmed publisher
    ..contrast, reduction of miR-128, -15b, -195, -26b, -34b, -376b, and -381 by CSPGs was accompanied by increased EZR, KIF5A, DCX, GSK3B, and ROCK2 proteins...
  14. Uchida A, Alami N, Brown A. Tight functional coupling of kinesin-1A and dynein motors in the bidirectional transport of neurofilaments. Mol Biol Cell. 2009;20:4997-5006 pubmed publisher
    We have tested the hypothesis that kinesin-1A (formerly KIF5A) is an anterograde motor for axonal neurofilaments...
  15. Cooper J, Walker N, Healy B, Smyth D, Downes K, Todd J. Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1. Genes Immun. 2009;10 Suppl 1:S95-120 pubmed publisher
    ..org). Support was obtained for a newly identified T1D candidate locus on chromosome 12q13.3-12q14.1 (rs1678536/KIF5A: P=8.1 x 10(-3); relative risk (RR) for minor allele=0.89, 95% CI=0.82-0...
  16. Daud D, Griffin H, Douroudis K, Kleinle S, Eglon G, Pyle A, et al. Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering. J Neurol. 2015;262:1673-7 pubmed publisher
    ..Variant filtering identified potentially deleterious mutations in three known disease genes: DCTN1, KIF5A and NEFH, which have been all associated with similar clinical presentations of amyotrophic lateral sclerosis, ..
  17. Medina C, Biris O, Falzone T, Zhang X, Zimmerman A, Bearer E. Hippocampal to basal forebrain transport of Mn2+ is impaired by deletion of KLC1, a subunit of the conventional kinesin microtubule-based motor. Neuroimage. 2017;145:44-57 pubmed publisher
    ..Defects in axonal transport result in peripheral neuropathies, some of which are caused by mutations in KIF5A, a gene encoding one of the heavy chain isoforms of conventional kinesin-1...
  18. Elghzaly A, Metwally S, El Chennawi F, Elgayaar M, Mosaad Y, El Toraby E, et al. IRF5, PTPN22, CD28, IL2RA, KIF5A, BLK and TNFAIP3 genes polymorphisms and lupus susceptibility in a cohort from the Egypt Delta; relation to other ethnic groups. Hum Immunol. 2015;76:525-31 pubmed publisher
    ..rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic ..
  19. Nicolas A, Kenna K, Renton A, Ticozzi N, Faghri F, Chia R, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 2018;97:1268-1283.e6 pubmed publisher
    ..N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2)...
  20. Pesaresi M, Giatti S, Spezzano R, Romano S, Diviccaro S, Borsello T, et al. Axonal transport in a peripheral diabetic neuropathy model: sex-dimorphic features. Biol Sex Differ. 2018;9:6 pubmed publisher
    ..that short-term diabetes alters mRNA levels and axoplasm protein contents of kinesin family member KIF1A, KIF5B, KIF5A and Myosin Va in male but not in female rats...
  21. Hares K, Kemp K, Rice C, Gray E, Scolding N, Wilkins A. Reduced axonal motor protein expression in non-lesional grey matter in multiple sclerosis. Mult Scler. 2014;20:812-21 pubmed publisher
    ..Recently, certain kinesin superfamily proteins (KIF5A, KIF1B and KIF21B) were implicated in MS pathology...
  22. Khundakar A, Hanson P, Erskine D, Lax N, Roscamp J, Karyka E, et al. Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations. Acta Neuropathol Commun. 2016;4:66 pubmed publisher
    ..This was demonstrated by loss of post synaptic GABA receptor markers including gephyrin, GABARAP, and Kif5A, indicating reduced GABAergic synaptic activity...
  23. Dixit A, Banerjee J, Srivastava A, Tripathi M, Sarkar C, Kakkar A, et al. RNA-seq analysis of hippocampal tissues reveals novel candidate genes for drug refractory epilepsy in patients with MTLE-HS. Genomics. 2016;107:178-88 pubmed publisher
    ..genes like FN1 which is central in our analysis, NEUROD6, RELN, TGF?R2, NLRP1, SCRT1, CSNK2B, SCN1B, CABP1, KIF5A and antisense RNAs like AQP4-AS1 and KIRREL3-AS2 providing important insight into the understanding of the ..
  24. Shi L, Hines T, Bergson C, Smith D. Coupling of microtubule motors with AP-3 generated organelles in axons by NEEP21 family member calcyon. Mol Biol Cell. 2018;29:2055-2068 pubmed publisher
    ..that the cytoplasmic C-terminus of Caly pulled down proteins involved in microtubule-dependent transport (DIC, KIF5A, p150Glued, Lis1) and organelle biogenesis (AP-1 and AP-3) from the brain...
  25. Dohrn M, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, et al. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. J Neurochem. 2017;143:507-522 pubmed publisher
    ..NEFL, PRX, IGHMBP2, NDRG1, TTR, EGR2, FIG4, GDAP1, LMNA, LRSAM1, POLG, TRPV4, AARS, BIC2, DHTKD1, FGD4, HK1, INF2, KIF5A, PDK3, REEP1, SBF1, SBF2, SCN9A, and SPTLC2 with a declining frequency...
  26. Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, et al. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology. 2004;63:1108-10 pubmed
    ..report a four-generation pedigree segregating an autosomal dominant phenotype for HSP and showing a linkage to the SPG10 locus, coding for Kinesin family member 5A...
  27. Kaji S, Kawarai T, Miyamoto R, Nodera H, Pedace L, Orlacchio A, et al. Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis. J Neurol Sci. 2016;364:45-9 pubmed publisher
    Pathogenic mutations in the KIF5A-SPG10 gene, encoding the kinesin HC5A, can be associated with autosomal dominant hereditary spastic paraplegia (ADHSP). It accounts for about 10% of the complicated forms of ADHSP...
  28. van der Linden M, Feitsma A, le Cessie S, Kern M, Olsson L, Raychaudhuri S, et al. Association of a single-nucleotide polymorphism in CD40 with the rate of joint destruction in rheumatoid arthritis. Arthritis Rheum. 2009;60:2242-7 pubmed publisher
    ..genome-wide association studies identified 6 genetic regions for susceptibility to autoantibody-positive RA: CD40, KIF5A/PIP4K2C, CDK6, CCL21, PRKCQ, and MMEL1/TNFRSF14...
  29. Olmsted Z, Colliver A, Riehlman T, Paluh J. Kinesin-14 and kinesin-5 antagonistically regulate microtubule nucleation by γ-TuRC in yeast and human cells. Nat Commun. 2014;5:5339 pubmed publisher
  30. Pu J, Schindler C, Jia R, Jarnik M, Backlund P, Bonifacino J. BORC, a multisubunit complex that regulates lysosome positioning. Dev Cell. 2015;33:176-88 pubmed publisher
    ..In turn, this causes reduced cell spreading and migration, highlighting the importance of BORC-dependent centrifugal transport for non-degradative functions of lysosomes. ..
  31. Setou M, Seog D, Tanaka Y, Kanai Y, Takei Y, Kawagishi M, et al. Glutamate-receptor-interacting protein GRIP1 directly steers kinesin to dendrites. Nature. 2002;417:83-7 pubmed
    ..These results indicate that directly binding proteins can determine the traffic direction of a motor protein. ..
  32. López E, Casasnovas C, Giménez J, Santamaría R, Terrazas J, Volpini V. Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy. J Neurol Sci. 2015;358:422-7 pubmed publisher
    ..type 10 (SPG10) is a rare form of autosomal dominant hereditary spastic paraplegia (AD-HSP) due to mutations in KIF5A, a gene encoding the neuronal kinesin heavy-chain involved in axonal transport...
  33. Kawaguchi K. Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia. Neuroscientist. 2013;19:336-44 pubmed publisher
    ..on its influence on axon generation, thereby leading to therapies for diseases such as spastic paraplegia type 10 (SPG10), the subject of this review...
  34. Tooker B, Newman L, Bowler R, Karjalainen A, Oksa P, Vainio H, et al. Proteomic detection of cancer in asbestosis patients using SELDI-TOF discovered serum protein biomarkers. Biomarkers. 2011;16:181-91 pubmed publisher
    ..The first two peaks were identified as KIF18A and KIF5A, respectively, and are part of the Kinesin Superfamily of proteins...
  35. Alcina A, Vandenbroeck K, Otaegui D, Saiz A, Gonzalez J, Fernandez O, et al. The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis. Genes Immun. 2010;11:439-45 pubmed publisher
    ..Three SNPs were found to be associated with MS: rs1678542 in KIF5A (P=0.001, odds ratio (OR)=1.13, 95% confidence interval (CI)=1.05-1.23); rs3184504 in SH2B3 (P=0.00001, OR=1...
  36. Splinter D, Tanenbaum M, Lindqvist A, Jaarsma D, Flotho A, Yu K, et al. Bicaudal D2, dynein, and kinesin-1 associate with nuclear pore complexes and regulate centrosome and nuclear positioning during mitotic entry. PLoS Biol. 2010;8:e1000350 pubmed publisher
  37. Collongues N, Depienne C, Boehm N, Echaniz Laguna A, Samama B, Durr A, et al. Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality. Eur J Neurol. 2013;20:398-401 pubmed publisher
    b>SPG10 is a rare form of autosomic dominant hereditary spastic paraplegia (HSP) caused by mutations in the KIF5A gene, which may be involved in axonal transport...
  38. Macioce P, Gambara G, Bernassola M, Gaddini L, Torreri P, Macchia G, et al. Beta-dystrobrevin interacts directly with kinesin heavy chain in brain. J Cell Sci. 2003;116:4847-56 pubmed
    ..Four overlapping clones were identified that encoded Kif5A, a neuronal member of the Kif5 family of proteins that consists of the heavy chains of conventional kinesin...
  39. Goizet C, Boukhris A, Mundwiller E, Tallaksen C, Forlani S, Toutain A, et al. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat. 2009;30:E376-85 pubmed publisher
    ..Only a few different mutations in the SPG10 gene, KIF5A, have been described in pure dominant forms of the disease...
  40. Blair M, Ma S, Hedera P. Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. Neurogenetics. 2006;7:47-50 pubmed
    Autosomal dominant hereditary spastic paraplegia (AD HSP) linked to chromosome 12q (SPG10) is caused by mutations in the neuronal kinesin heavy-chain KIF5A gene...
  41. Kalchishkova N, Böhm K. The role of Kinesin neck linker and neck in velocity regulation. J Mol Biol. 2008;382:127-35 pubmed publisher
    ..To elucidate the structural motifs contributing to velocity regulation, we expressed a set of Eg5- and KIF5A-based chimeric proteins with interchanged native neck linker and neck elements...
  42. Reid E, Dearlove A, Rhodes M, Rubinsztein D. A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. Am J Hum Genet. 1999;65:757-63 pubmed
    ..61 at D12S1691, allowing us to assign a new locus for ADPHSP (a locus that we have designated "SPG10") to this region. Haplotype construction and analysis of recombination events narrowed the SPG10 locus to a 9...
  43. Kamata H, Tsukasaki Y, Sakai T, Ikebe R, Wang J, Jeffers A, et al. KIF5A transports collagen vesicles of myofibroblasts during pleural fibrosis. Sci Rep. 2017;7:4556 pubmed publisher
    ..Among a number of cargo transporting kinesins, KIF5A was notably upregulated during TGF-β induced mesothelial-mesenchymal transition (MesoMT)...
  44. Rydzanicz M, Jagła M, Kosinska J, Tomasik T, Sobczak A, Pollak A, et al. KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. Clin Genet. 2017;91:769-773 pubmed publisher
    The KIF5A gene (OMIM 602821) encodes a neuron-specific kinesin heavy chain involved in intracellular transport of mitochondria and other cargoes...
  45. Reid E, Kloos M, Ashley Koch A, Hughes L, Bevan S, Svenson I, et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet. 2002;71:1189-94 pubmed
    We have identified a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia...
  46. Amit I, Yakir L, Katz M, Zwang Y, Marmor M, Citri A, et al. Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding. Genes Dev. 2004;18:1737-52 pubmed
  47. Hares K, Redondo J, Kemp K, Rice C, Scolding N, Wilkins A. Axonal motor protein KIF5A and associated cargo deficits in multiple sclerosis lesional and normal-appearing white matter. Neuropathol Appl Neurobiol. 2017;43:227-241 pubmed publisher
    ..Anterograde axonal transport of many proteins vital for axonal viability is mediated by the motor protein KIF5A, which has been linked to several neurological diseases...
  48. Lynch D, Koutsis G, Tucci A, Panas M, Baklou M, Breza M, et al. Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. Eur J Hum Genet. 2016;24:857-63 pubmed publisher
    ..We made a genetic diagnosis in >50% of cases and identified 11 novel variants. Variants in SPAST and KIF5A were the most common causes of autosomal dominant HSP, whereas SPG11 and CYP7B1 were the most common cause of ..
  49. Ebbing B, Mann K, Starosta A, Jaud J, Schols L, Schule R, et al. Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. Hum Mol Genet. 2008;17:1245-52 pubmed publisher
    ..It is linked to at least 30 loci, among them SPG10, which causes dominant forms and originates in point mutations in the neuronal Kinesin-1 gene (KIF5A)...
  50. Fung E, Smyth D, Howson J, Cooper J, Walker N, Stevens H, et al. Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus. Genes Immun. 2009;10:188-91 pubmed publisher
    ..with T1D in the regions containing genes: 2q32/STAT4, 17q21/STAT3, 5p15/ERAP1 (ARTS1), 6q23/TNFAIP3 and 12q13/KIF5A/PIP4K2C with allelic P-values ranging from 3.70 x 10(-3) to 3.20 x 10(-5)...
  51. Liu Y, Laura M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, et al. Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology. 2014;83:612-9 pubmed publisher
    To establish the phenotypic spectrum of KIF5A mutations and to investigate whether KIF5A mutations cause axonal neuropathy associated with hereditary spastic paraplegia (HSP) or typical Charcot-Marie-Tooth disease type 2 (CMT2)...
  52. Ferenz N, Gable A, Wadsworth P. Mitotic functions of kinesin-5. Semin Cell Dev Biol. 2010;21:255-9 pubmed publisher
    ..Understanding the interactions of kinesin-5 motors with microtubules and other spindle proteins is likely to broaden the documented roles of kinesin-5 motors during cell division. ..
  53. DeLuca G, Ramagopalan S, Cader M, Dyment D, Herrera B, Orton S, et al. The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. J Neurol. 2007;254:1221-6 pubmed
    ..could not provide any evidence to suggest that genes involved in the pathogenesis of HSP (Paraplegin, NIPA1, KIF5A, HSPD1, Atlastin, Spartin, Spastin, PLP1, L1CAM, Maspardin and BSCL2) play a role in susceptibility to, or ..
  54. Schule R, Kremer B, Kassubek J, Auer Grumbach M, Kostic V, Klopstock T, et al. SPG10 is a rare cause of spastic paraplegia in European families. J Neurol Neurosurg Psychiatry. 2008;79:584-7 pubmed publisher
    ..form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date...
  55. Kanai Y, Okada Y, Tanaka Y, Harada A, Terada S, Hirokawa N. KIF5C, a novel neuronal kinesin enriched in motor neurons. J Neurosci. 2000;20:6374-84 pubmed
    ..KIF5s, the heavy chains of conventional kinesin (KHC), are originally identified members of KIFs, and neuronal KIF5A and ubiquitous KIF5B have been identified so far...
  56. Wieczorek S, Holle J, Muller S, Fricke H, Gross W, Epplen J. A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis. J Mol Med (Berl). 2010;88:413-21 pubmed publisher
    ..22 single nucleotide polymorphisms (SNPs) within or in the vicinity of CCL21, CD40, CDK6, IL21, IL2RB, IRF5, KIF5A, KLF12, MMEL1, PRKCQ, STAT4, TNFAIP3, and TRAF1/C5 have been genotyped in >600 German WG cases and >800 ..
  57. Duis J, Dean S, Applegate C, Harper A, Xiao R, He W, et al. KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. Ann Neurol. 2016;80:633-7 pubmed publisher
    Missense mutations in kinesin family member 5A (KIF5A) cause spastic paraplegia 10...
  58. Blakeslee W, Lin Y, Stratton M, Tatman P, Hu T, Ferguson B, et al. Class I HDACs control a JIP1-dependent pathway for kinesin-microtubule binding in cardiomyocytes. J Mol Cell Cardiol. 2017;112:74-82 pubmed publisher
    ..induction of JIP1 was required to stimulate expression of the kinesin heavy chain family member, KIF5A. We provide evidence for an HDAC-dependent regulatory circuit that promotes formation of JIP1:KIF5A:microtubule ..
  59. Jennings S, Chenevert M, Liu L, Mottamal M, Wojcik E, Huckaba T. Characterization of kinesin switch I mutations that cause hereditary spastic paraplegia. PLoS ONE. 2017;12:e0180353 pubmed publisher
    b>Kif5A is a neuronally-enriched isoform of the Kinesin-1 family of cellular transport motors...
  60. Plant D, Thomson W, Lunt M, Flynn E, Martin P, Eyre S, et al. The role of rheumatoid arthritis genetic susceptibility markers in the prediction of erosive disease in patients with early inflammatory polyarthritis: results from the Norfolk Arthritis Register. Rheumatology (Oxford). 2011;50:78-84 pubmed publisher
    ..Our results are in keeping with a previous report and suggest that the TRAF1/C5 region is associated with risk of development of radiological erosions in IP/RA patients. The finding requires replication in other large data sets. ..
  61. Hares K, Miners J, Cook A, Rice C, Scolding N, Love S, et al. Overexpression of Kinesin Superfamily Motor Proteins in Alzheimer's Disease. J Alzheimers Dis. 2017;60:1511-1524 pubmed publisher
    ..Our aim in the present study was to assess the expression of the anterograde kinesin superfamily motor proteins KIF5A, KIF1B, and KIF21B, and to examine their relationship to levels of hyperphosphorylated tau, amyloid-? protein ..
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    ..The SPG10 form is due to alteration in the kinesin1A gene (KIF5A) that encodes the neuronal kinesin heavy chain, a protein required for the anterograde axonal transport...
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    ..This study identified a new RA locus mapping to 22q12. These results support the notion that increasing the power of GWAS enhances novel gene discovery. ..
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    ..Weak evidence of association of JIA with three additional loci (Chr6q23, KIF5A and PRKCQ) was also obtained, which warrants further investigation...
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    ..Among the autosomal dominant HSPs (AD-HSPs), SPG10 is a rare form due to mutations in KIF5A gene (locus 12q13.3)...
  69. Crimella C, Baschirotto C, Arnoldi A, Tonelli A, Tenderini E, Airoldi G, et al. Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. Clin Genet. 2012;82:157-64 pubmed publisher
    ..dominant form of hereditary spastic paraplegia (HSP) due to mutations in KIF5A, a gene encoding the neuronal kinesin heavy chain implicated in anterograde axonal transport...
  70. Nakajima K, Yin X, Takei Y, Seog D, Homma N, Hirokawa N. Molecular motor KIF5A is essential for GABA(A) receptor transport, and KIF5A deletion causes epilepsy. Neuron. 2012;76:945-61 pubmed publisher
    KIF5 (also known as kinesin-1) family members, consisting of KIF5A, KIF5B, and KIF5C, are microtubule-dependent molecular motors that are important for neuronal function...
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    ..In summary, different ?-Syn species act divergently on the axonal transport machinery. These findings provide new insights into ?-Syn oligomer-driven neuritic pathology as one of the earliest events in synucleinopathies. ..
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    ..refine the TRAK1/2 binding sites within the kinesin-1 cargo domain, rationally designed C-terminal truncations of KIF5A and KIF5C were generated and their co-association with TRAK1/2 determined by quantitative co-immunoprecipitations ..
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    Conventional kinesin, kinesin-I, is a heterotetramer of two kinesin heavy chain (KHC) subunits (KIF5A, KIF5B, or KIF5C) and two kinesin light chain (KLC) subunits. While KHC contains the motor activity, the role of KLC remains unknown...
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    ..Connexin 37 genetic variants significantly affect carotid IMT and contribute to future development of ischemic stroke. ..
  75. Plant D, Flynn E, Mbarek H, Dieude P, Cornelis F, Arlestig L, et al. Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers. Ann Rheum Dis. 2010;69:1548-53 pubmed publisher
    ..Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs4810485 (CD40), rs5029937 (6q23), rs10760130 (TRAF1/C5) and rs7574865 (..
  76. Tan R, Gibbons L, Potter C, Hyrich K, Morgan A, Wilson A, et al. Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment. Ann Rheum Dis. 2010;69:1029-35 pubmed publisher
    ..11 (95% CI 0.00 to 0.22), p=0.048). These results suggest that AFF3 and CD226, two confirmed RA susceptibility genes, have an additional role in influencing the response to anti-TNF treatment. ..
  77. Espanel X, Sudol M. Yes-associated protein and p53-binding protein-2 interact through their WW and SH3 domains. J Biol Chem. 2001;276:14514-23 pubmed
    ..p53BP-2 complex. ..
  78. Guinto C, Diarra S, Diallo S, Cissé L, Coulibaly T, Diallo S, et al. A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss. Ann Clin Transl Neurol. 2017;4:272-275 pubmed publisher
    ..HSP panel testing identified a novel heterozygous missense mutation in KIF5A (c.1086G>C, p.Lys362Asn) that segregated with the disease (SPG10)...
  79. Burgo A, Proux Gillardeaux V, Sotirakis E, Bun P, Casano A, Verraes A, et al. A molecular network for the transport of the TI-VAMP/VAMP7 vesicles from cell center to periphery. Dev Cell. 2012;23:166-80 pubmed publisher
    ..TI-VAMP/VAMP7 partner Varp, a Rab21 guanine nucleotide exchange factor, interacts with GolginA4 and the kinesin 1 Kif5A. Activated Rab21-GTP in turn binds to MACF1, an actin and microtubule regulator, which is itself a partner of ..
  80. Goulet A, Major J, Jun Y, Gross S, Rosenfeld S, Moores C. Comprehensive structural model of the mechanochemical cycle of a mitotic motor highlights molecular adaptations in the kinesin family. Proc Natl Acad Sci U S A. 2014;111:1837-42 pubmed publisher
  81. van der Helm van Mil A, Toes R, Huizinga T. Genetic variants in the prediction of rheumatoid arthritis. Ann Rheum Dis. 2010;69:1694-6 pubmed publisher
    ..rs2476601 (ptpn22), rs108184088 (traf1-c5), rs7574865 (stat4), rs3087243 (ctla4), rs4810485 (cd40), rs1678542 (kif5a-pip4k2c), rs2812378 (ccl21), rs42041 (cdk6), rs4750316 (prkcq), rs6684865 (mmel1-tnfrsf14), rs2004640 (irf5), ..
  82. Boutchueng Djidjou M, Collard Simard G, Fortier S, Hébert S, Kelly I, Landry C, et al. The last enzyme of the de novo purine synthesis pathway 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC) plays a central role in insulin signaling and the Golgi/endosomes protein network. Mol Cell Proteomics. 2015;14:1079-92 pubmed publisher
    ..These results suggest the presence of a signaling mechanism that senses adenylate synthesis, ATP levels, and IR activation states and that acts in regulating IR autophosphorylation and endocytosis. ..