KIF5A

Summary

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

Top Publications

  1. ncbi Common variants at CD40 and other loci confer risk of rheumatoid arthritis
    Soumya Raychaudhuri
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
    Nat Genet 40:1216-23. 2008
  2. ncbi Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus
    E Y M G Fung
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
    Genes Immun 10:188-91. 2009
  3. ncbi Cloning and localization of a conventional kinesin motor expressed exclusively in neurons
    J Niclas
    Department of Pharmacology, University of California, San Francisco 94143
    Neuron 12:1059-72. 1994
  4. ncbi Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins
    A Rahman
    Howard Hughes Medical Institute, Division of Cellular and Molecular Medicine, Program in Biomedical Sciences and Department of Pharmacology, University of California San Diego, La Jolla, California 92093 0683, USA
    J Biol Chem 273:15395-403. 1998
  5. ncbi 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
    Darren Plant
    ARC Epidemiology Unit, Manchester Academic Health Sciences Centre, The University of Manchester, Stopford Building, Oxford Road, Manchester M13 9PT, UK
    Rheumatology (Oxford) 50:78-84. 2011
  6. ncbi A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis
    Stefan Wieczorek
    Department of Human Genetics, Ruhr University, MA5 39, 44780, Bochum, Germany
    J Mol Med (Berl) 88:413-21. 2010
  7. ncbi 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
    J D Cooper
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke s Hospital, Hills Road, Cambridge, UK
    Genes Immun 10:S95-120. 2009
  8. ncbi Tight functional coupling of kinesin-1A and dynein motors in the bidirectional transport of neurofilaments
    Atsuko Uchida
    Center for Molecular Neurobiology and Department of Neuroscience, The Ohio State University, Columbus, OH 43210, USA
    Mol Biol Cell 20:4997-5006. 2009
  9. ncbi Overexpression of kinesins mediates docetaxel resistance in breast cancer cells
    Sarmishtha De
    Department of Genetics and Pathology, Case Western Reserve University, Case Comprehensive Cancer Center, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA
    Cancer Res 69:8035-42. 2009
  10. ncbi Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis
    Anne Hinks
    Stopford Building, Oxford Road, The University of Manchester, Manchester M13 9PT, UK
    Ann Rheum Dis 69:1049-53. 2010

Research Grants

  1. Axonal Transport Deficits during Hereditary Spastic Paraplegia
    GERARDO ANDRES MORFINI; Fiscal Year: 2010
  2. GENETIC AND IMMUNOLOGIC ANALYSIS OF MICROTUBULE PROTEINS
    Lawrence Goldstein; Fiscal Year: 2006
  3. GENETIC AND IMMUNOLOGIC ANALYSIS OF MICROTUBULE PROTEINS
    Lawrence Goldstein; Fiscal Year: 2002
  4. Mechanism of spastin-mediated microtubule severing
    Susan White; Fiscal Year: 2007
  5. AXONAL TRANSPORT OF NEUROFILAMENTS
    Anthony Brown; Fiscal Year: 2007
  6. Assembly and Axonal Transport of Neurofilaments
    Anthony Brown; Fiscal Year: 2010
  7. ASSEMBLY AND AXONAL TRANSPORT OF NEUROFILAMENT PROTEINS
    Anthony Brown; Fiscal Year: 2002

Scientific Experts

  • Stefan Wieczorek
  • Brian C Tooker
  • Monica Chang
  • Hani El-Gabalawy
  • Konrad J., Bohm
  • J D Cooper
  • Bettina Ebbing
  • Anne Hinks
  • Olimpia Musumeci
  • X Espanel
  • Anthony Brown
  • Annette H M van der Helm-van Mil
  • P Macioce
  • Marina Ceccarini
  • Marco Fichera
  • E Reid
  • Anne Barton
  • Lawrence Goldstein
  • Susan White
  • GERARDO ANDRES MORFINI
  • Darren Plant
  • Sarmishtha De
  • Jane Worthington
  • Ann B Begovich
  • Nikolina Kalchishkova
  • Soumya Raychaudhuri
  • Min Han Tan
  • Hsin Bang Leu
  • A Rahman
  • George R Stark
  • Edward Flynn
  • Yoshihisa Takiyama
  • Klaus Stark
  • Rachael J L Tan
  • A Alcina
  • Kerstin Dreblow
  • Lina Wang
  • Ping Shi
  • Yonghong Li
  • Cyril Goizet
  • E Y M G Fung
  • Atsuko Uchida
  • Michael P M van der Linden
  • Lars Klareskog
  • Joseph J Catanese
  • Tom W J Huizinga
  • Fina A S Kurreeman
  • Rene E M Toes
  • Peter K Gregersen
  • Guo Hua Zhao
  • Masashi Ikeda
  • R Schule
  • Scott R DeBoer
  • Shinichiro Taya
  • Kozo Kaibuchi
  • Takao Hikita
  • Tomoyasu Shinoda
  • Kyoung In Cho
  • G C DeLuca
  • Marcia A Blair
  • Francesca Crippa
  • Kieran Brickley
  • Paulo A Ferreira
  • Yunfei Cai
  • Ido Amit
  • Chun hong Xia
  • L S Goldstein
  • Mitsutoshi Setou
  • Timur A Mavlyutov
  • Gurkan Bebek
  • Robert Wesolowski
  • Charis Eng
  • Erinn Downs-Kelly
  • Mohammed S Orloff
  • A Junco
  • G Thomas Budd
  • Diane Bunn
  • Wendy Thomson
  • Chia Min Chung
  • Jaw Wen Chen
  • Shao Yuan Chuang
  • Mark Lunt
  • Wen Harn Pan
  • Chyi Huey Bai
  • Jiunn Rong Chen
  • Steven Eyre
  • Paul Martin
  • Deborah Symmons
  • Tracey Farragher
  • Michito Namekawa

Detail Information

Publications56

  1. ncbi Common variants at CD40 and other loci confer risk of rheumatoid arthritis
    Soumya Raychaudhuri
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
    Nat Genet 40:1216-23. 2008
    ..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).
  2. ncbi Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus
    E Y M G Fung
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
    Genes Immun 10:188-91. 2009
    ..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)...
  3. ncbi Cloning and localization of a conventional kinesin motor expressed exclusively in neurons
    J Niclas
    Department of Pharmacology, University of California, San Francisco 94143
    Neuron 12:1059-72. 1994
    ..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)...
  4. ncbi Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins
    A Rahman
    Howard Hughes Medical Institute, Division of Cellular and Molecular Medicine, Program in Biomedical Sciences and Department of Pharmacology, University of California San Diego, La Jolla, California 92093 0683, USA
    J Biol Chem 273:15395-403. 1998
    ..These results indicate that the mammalian nervous system contains multiple kinesin light chain gene products with potentially distinct functions...
  5. ncbi 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
    Darren Plant
    ARC Epidemiology Unit, Manchester Academic Health Sciences Centre, The University of Manchester, Stopford Building, Oxford Road, Manchester M13 9PT, UK
    Rheumatology (Oxford) 50:78-84. 2011
    ..We therefore sought to investigate the role of recently identified RA susceptibility SNP markers in predicting erosive outcome in patients with recent-onset inflammatory polyarthritis (IP)...
  6. ncbi A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis
    Stefan Wieczorek
    Department of Human Genetics, Ruhr University, MA5 39, 44780, Bochum, Germany
    J Mol Med (Berl) 88:413-21. 2010
    ..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 matched ..
  7. ncbi 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
    J D Cooper
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke s Hospital, Hills Road, Cambridge, UK
    Genes Immun 10:S95-120. 2009
    ..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...
  8. ncbi Tight functional coupling of kinesin-1A and dynein motors in the bidirectional transport of neurofilaments
    Atsuko Uchida
    Center for Molecular Neurobiology and Department of Neuroscience, The Ohio State University, Columbus, OH 43210, USA
    Mol Biol Cell 20:4997-5006. 2009
    We have tested the hypothesis that kinesin-1A (formerly KIF5A) is an anterograde motor for axonal neurofilaments...
  9. ncbi Overexpression of kinesins mediates docetaxel resistance in breast cancer cells
    Sarmishtha De
    Department of Genetics and Pathology, Case Western Reserve University, Case Comprehensive Cancer Center, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA
    Cancer Res 69:8035-42. 2009
    ..When KIFC3 or the additional kinesins KIFC1, KIF1A, or KIF5A were overexpressed in the breast cancer cell lines MDA-MB231 and MDA-MB 468, the cells became more resistant to ..
  10. ncbi Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis
    Anne Hinks
    Stopford Building, Oxford Road, The University of Manchester, Manchester M13 9PT, UK
    Ann Rheum Dis 69:1049-53. 2010
    ..Rheumatoid arthritis (RA) is an autoimmune disease that shares similar clinical and pathological features with JIA and, therefore, recently identified confirmed RA susceptibility loci are also excellent JIA candidate loci...
  11. ncbi Association of a single-nucleotide polymorphism in CD40 with the rate of joint destruction in rheumatoid arthritis
    Michael P M van der Linden
    Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands
    Arthritis Rheum 60:2242-7. 2009
    ..genome-wide association studies identified 6 genetic regions for susceptibility to autoantibody-positive RA: CD40, KIF5A/PIP4K2C, CDK6, CCL21, PRKCQ, and MMEL1/TNFRSF14...
  12. ncbi Unraveling the genetics of complex diseases: susceptibility genes for rheumatoid arthritis and psoriasis
    Yonghong Li
    Celera, 1401 Harbor Bay Parkway, Alameda, CA 94502, USA
    Semin Immunol 21:318-27. 2009
    ..convincing statistical evidence for at least ten non-HLA related risk genes or loci (C5/TRAF1, CD40, CTLA4, KIF5A/PIP4K2C, MMEL1/TNFRSF14, PADI4, PRKCQ, PTPN22, STAT4, and TNFAIP3/OLIG3) for RA and six (IL12B, IL13, IL23R, STAT2/..
  13. ncbi Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10
    Cyril Goizet
    INSERM, UMR_S679, Paris, France
    Hum Mutat 30:E376-85. 2009
    ..Only a few different mutations in the SPG10 gene, KIF5A, have been described in pure dominant forms of the disease...
  14. ncbi Identification of YWHAE, a gene encoding 14-3-3epsilon, as a possible susceptibility gene for schizophrenia
    Masashi Ikeda
    Department of Psychiatry, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470 1192, Japan
    Hum Mol Genet 17:3212-22. 2008
    ..LIS1), 14-3-3epsilon (YWHAE), growth factor receptor bound protein 2 (GRB2) and Kinesin family 5A of Kinesen1 (KIF5A)], assessing a total of 25 tagging single-nucleotide polymorphisms (SNPs) in a Japanese population...
  15. ncbi Genetics in neuroendocrine immunology: implications for rheumatoid arthritis and osteoarthritis
    Klaus Stark
    Department of Internal Medicine II, University Hospital Regensburg, Regensburg, Germany
    Ann N Y Acad Sci 1193:10-4. 2010
    ..genes like HLA-DRB1, PTPN22, STAT4, TRAF1/C5, OLIG3/TNFAIP3, CD40, CCL21, MMEL1-TNFRSF14, CDK6, PRKCQ, IL2RB, and KIF5A-PIP4K2C. These association signals explain more than 50% of the genetic influence on RA...
  16. ncbi Kinesin passing permanent blockages along its protofilament track
    Kerstin Dreblow
    Leibniz Institute for Age Research Fritz Lipmann Institute FLI, Beutenbergstrasse 11, 07745 Jena, Germany
    Biochem Biophys Res Commun 395:490-5. 2010
    ..that exactly the kinesin-binding sites were occupied and to avoid steric effects exerted by large molecules, the KIF5A motor domain was used for blocking...
  17. ncbi Japan spastic paraplegia research consortium (JASPAC)
    Yoshihisa Takiyama
    Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi
    Rinsho Shinkeigaku 50:931-4. 2010
    ..families, SPG4 was the most common form, accounting for 47%, followed by SPG31 (4%), SPG3A (3%), SPG8 (1%), and SPG10 (1%)...
  18. ncbi Non-HLA genes modulate the risk of rheumatoid arthritis associated with HLA-DRB1 in a susceptible North American Native population
    H S El-Gabalawy
    Department of Internal Medicine, University of Manitoba, Winnipeg, Manitoba, Canada
    Genes Immun 12:568-74. 2011
    ..associated with RA, including PTPN22, TRAF1-C5, CTLA4, PADI4, STAT4, FCRL3, CCL21, MMEL1-TNFRSF14, CDK6, PRKCQ, KIF5A-PIP4K2C, IL2RB, TNFAIP3, IL10-1082G/A and REL...
  19. ncbi Specific kinesin expression profiles associated with taxane resistance in basal-like breast cancer
    Min Han Tan
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue NE 50, Cleveland, OH 44195, USA
    Breast Cancer Res Treat 131:849-58. 2012
    ..49) and cisplatin (P = 0.10). Overexpression of KIFC3 and KIF5A in pre-chemotherapy samples similarly predicted resistance to paclitaxel in the MDACC cohorts (P = 0...
  20. ncbi Proteomic detection of cancer in asbestosis patients using SELDI-TOF discovered serum protein biomarkers
    Brian C Tooker
    Division of Allergy and Clinical Immunology, University of Colorado Denver, Aurora, CO 80045, USA
    Biomarkers 16:181-91. 2011
    ..To identify biomarkers for cancer in asbestosis patients...
  21. ncbi A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy
    Olimpia Musumeci
    Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy
    Neurol Sci 32:665-8. 2011
    ..Among the autosomal dominant HSPs (AD-HSPs), SPG10 is a rare form due to mutations in KIF5A gene (locus 12q13.3)...
  22. ncbi A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport
    Lina Wang
    Center for Molecular Neurobiology and Department of Neuroscience, The Ohio State University, Columbus, OH 43210, USA
    Mol Neurodegener 5:52. 2010
    ..One of the dominantly inherited forms of this disease (spastic gait type 10, or SPG10) is caused by point mutations in kinesin-1A (also known as KIF5A), which is thought to be an anterograde motor for ..
  23. ncbi Genetic variants of connexin37 are associated with carotid intima-medial thickness and future onset of ischemic stroke
    Hsin Bang Leu
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan, Republic of China
    Atherosclerosis 214:101-6. 2011
    ..This study aimed to investigate the impacts of genetic variants on IMT and future development of ischemic stroke in a cohort, followed by an independent replication study...
  24. ncbi Effects of ALS-related SOD1 mutants on dynein- and KIF5-mediated retrograde and anterograde axonal transport
    Ping Shi
    Department of Molecular and Cellular Biochemistry, College of Medicine, University of Kentucky, Lexington, KY 40536, USA
    Biochim Biophys Acta 1802:707-16. 2010
    ..to the dynein situation, mutant SOD1 did not interact with anterograde transport motors of the kinesin-1 family (KIF5A, B and C)...
  25. ncbi The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis
    A Alcina
    Instituto de Parasitologia y Biomedicina Lopez Neyra, Consejo Superior de Investigaciones Cientificas CSIC, Granada, Spain
    Genes Immun 11:439-45. 2010
    ..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...
  26. ncbi Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers
    Darren Plant
    ARC Epidemiology Unit, Stopford Building, The University of Manchester, Manchester M13 9PT, UK
    Ann Rheum Dis 69:1548-53. 2010
    ..Genome-wide association studies have identified non-human leucocyte antigen RA susceptibility loci which associate with RA with low-to-moderate risk...
  27. ncbi Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment
    Rachael J L Tan
    Arthritis Research Campaign Epidemiology Unit, Stopford Building, Oxford Road, University of Manchester, Manchester M13 9PT, UK
    Ann Rheum Dis 69:1029-35. 2010
    ..The aim of the current study was to investigate the association of markers within confirmed RA susceptibility loci with the response to anti-TNF treatment...
  28. ncbi Genetic variants in the prediction of rheumatoid arthritis
    Annette H M van der Helm-van Mil
    Leiden University Medical Center, Department of Rheumatology, Leiden, The Netherlands
    Ann Rheum Dis 69:1694-6. 2010
    ....
  29. ncbi The role of Kinesin neck linker and neck in velocity regulation
    Nikolina Kalchishkova
    Leibniz Institute for Age Research, Fritz Lipmann Institute, Beutenbergstrasse 11, D 07745 Jena, Germany
    J Mol Biol 382:127-35. 2008
    ..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...
  30. ncbi Beta-dystrobrevin interacts directly with kinesin heavy chain in brain
    P Macioce
    Laboratory of Cell Biology, Istituto Superiore di Sanita, Viale Regina Elena 299, 00161 Rome, Italy
    J Cell Sci 116:4847-56. 2003
    ..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...
  31. ncbi Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A
    Chun hong Xia
    Department of Cellular and Molecular Medicine, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093 0683, USA
    J Cell Biol 161:55-66. 2003
    ..we used homologous recombination to generate mice lacking the neuronal-specific conventional kinesin heavy chain, KIF5A. Because null KIF5A mutants die immediately after birth, a synapsin-promoted Cre-recombinase transgene was used to ..
  32. ncbi A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
    Evan Reid
    Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, United Kingdom
    Am J Hum Genet 71:1189-94. 2002
    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...
  33. ncbi Identification of RanBP2- and kinesin-mediated transport pathways with restricted neuronal and subcellular localization
    Timur A Mavlyutov
    Department of Pharmacology and Toxicology, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    Traffic 3:630-40. 2002
    ..The C-terminal domains of KIF5B and KIF5C, but not KIF5A, associate directly with importin-beta in a RanGTPase-dependent fashion in vivo and in vitro, indicating importin-..
  34. ncbi Glutamate-receptor-interacting protein GRIP1 directly steers kinesin to dendrites
    Mitsutoshi Setou
    Department of Cell Biology and Anatomy, Graduate School of Medicine, University of Tokyo, Hongo 7 3 1, Bunkyo ku, Tokyo 113 0033, Japan
    Nature 417:83-7. 2002
    ..These results indicate that directly binding proteins can determine the traffic direction of a motor protein...
  35. ncbi Kinesin light-chain KLC3 expression in testis is restricted to spermatids
    A Junco
    Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Alberta, Canada T2N 4N1
    Biol Reprod 64:1320-30. 2001
    ..Interestingly, the expression profiles of the three known KHCs and KLC3 differ significantly: Kif5a and Kif5b are not expressed after meiosis, and Kif5c is expressed at an extremely low level in spermatids but is ..
  36. ncbi Yes-associated protein and p53-binding protein-2 interact through their WW and SH3 domains
    X Espanel
    Department of Biochemistry and Molecular Biology, Mount Sinai School of Medicine, New York, New York 10029 6574, USA
    J Biol Chem 276:14514-23. 2001
    ..Since overexpression of an activated form of c-Yes resulted in tyrosine phosphorylation of p53BP-2, we propose that the p53BP-2 phosphorylation, possibly in the WW1 domain-binding motif, might negatively regulate the YAP.p53BP-2 complex...
  37. ncbi KIF5C, a novel neuronal kinesin enriched in motor neurons
    Y Kanai
    Department of Cell Biology and Anatomy, Graduate School of Medicine, University of Tokyo, Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    J Neurosci 20:6374-84. 2000
    ..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...
  38. ncbi Defective kinesin heavy chain behavior in mouse kinesin light chain mutants
    A Rahman
    Howard Hughes Medical Institute, Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, California 92093 0683, USA
    J Cell Biol 146:1277-88. 1999
    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...
  39. ncbi A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity
    E Reid
    Department of Medical Genetics, University of Cambridge, Cambridge CB2 2XY, United Kingdom
    Am J Hum Genet 65:757-63. 1999
    ..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...
  40. ncbi 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.
    P J Hamlin
    Molecular Medicine Unit, University of Leeds, St. James's University Hospital, Leeds (UK
    Cytogenet Cell Genet 82:267-8. 1998
  41. ncbi Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding
    Ido Amit
    Department of Biological Regulation, The Weizmann Institute of Science, Rehovot 76100, Israel
    Genes Dev 18:1737-52. 2004
    ....
  42. ncbi Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
    M Fichera
    Genetic Diagnostic Laboratory, IRCCS Oasi M SS Troina, Italy
    Neurology 63:1108-10. 2004
    ..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...
  43. ncbi GRIF-1 and OIP106, members of a novel gene family of coiled-coil domain proteins: association in vivo and in vitro with kinesin
    Kieran Brickley
    Department of Pharmaceutical and Biological Chemistry, School of Pharmacy, University of London, 29 39 Brunswick Square, London WC1N 1AX, United Kingdom
    J Biol Chem 280:14723-32. 2005
    ..Further studies revealed that GRIF-1 was predominantly associated with KIF5A in the brain and with KIF5B in both the heart and in HEK 293 cells...
  44. ncbi A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia
    Guo Hua Zhao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China
    Chin Med J (Engl) 121:430-4. 2008
    ..Thirteen loci for autosomal dominant HSP have been mapped...
  45. ncbi Conventional kinesin holoenzymes are composed of heavy and light chain homodimers
    Scott R DeBoer
    Department of Anatomy and Cell Biology, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Biochemistry 47:4535-43. 2008
    ..The products of three kinesin-1 (kinesin-1A, -1B, and -1C, formerly KIF5A, -B, and -C) and two KLC (KLC1, KLC2) genes are expressed in mammalian nervous tissue, but the functional ..
  46. ncbi Kinesin-driven transport in cell-free environment
    Konrad J Böhm
    Leibniz Institute for Age Research, Fritz Lipmann Institute, Molecular Motors Lab, Beutenbergstrasse 11, D 07745 Jena, Germany
    Cell Biol Int 32:588-90. 2008
    ..Moreover, it demonstrates that the neuron-specific kinesin KIF5A enables the formation of microtubules under conditions where pure tubulin does not assemble.
  47. ncbi SPG10 is a rare cause of spastic paraplegia in European families
    R Schule
    Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Str 3, D 72076 Tubingen, Germany
    J Neurol Neurosurg Psychiatry 79:584-7. 2008
    b>SPG10 is an autosomal dominant 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...
  48. ncbi Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity
    Bettina Ebbing
    Institute for Cell Biology, University of Munich, Schillerstr 42, D 80336 Munich, Germany
    Hum Mol Genet 17:1245-52. 2008
    ..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)...
  49. ncbi Association of the kinesin-binding domain of RanBP2 to KIF5B and KIF5C determines mitochondria localization and function
    Kyoung In Cho
    Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
    Traffic 8:1722-35. 2007
    ..with the ubiquitous and CNS-specific kinesins, KIF5B and KIF5C, respectively, but not with the highly homologous KIF5A. Here, we determine the molecular and biological bases of the selective interaction between RanBP2 and KIF5B/KIF5C...
  50. ncbi The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome
    G C DeLuca
    University Dept of Clinical Neurology, University of Oxford, Radcliffe Infirmary, Woodstock Rd, Oxford, OX2 6LE, UK
    J Neurol 254:1221-6. 2007
    ..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 ..
  51. ncbi DISC1 regulates neurotrophin-induced axon elongation via interaction with Grb2
    Tomoyasu Shinoda
    Department of Cell Pharmacology, Graduate School of Medicine, Nagoya University, Showa, Nagoya 466 8550, Japan
    J Neurosci 27:4-14. 2007
    ..DISC1 formed a ternary complex with Grb2 and kinesin heavy chain KIF5A of Kinesin-1...
  52. ncbi Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia
    Francesca Crippa
    Laboratory of Molecular Biology, IRCCS Eugenio Medea, Via D L Monza 20, 23842 Bosisio Parini, Lecco, Italy
    Arch Neurol 63:750-5. 2006
    ..Mutations in the SPG4 gene, which encodes spastin protein, are responsible for up to 45% of autosomal dominant cases...
  53. ncbi Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia
    Marcia A Blair
    Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
    Neurogenetics 7:47-50. 2006
    Autosomal dominant hereditary spastic paraplegia (AD HSP) linked to chromosome 12q (SPG10) is caused by mutations in the neuronal kinesin heavy-chain KIF5A gene...
  54. ncbi Molecular basis of dystrobrevin interaction with kinesin heavy chain: structural determinants of their binding
    Marina Ceccarini
    Department of Cell Biology and Neurosciences, Istituto Superiore di Sanita, Viale Regina Elena 299, 00161 Rome, Italy
    J Mol Biol 354:872-82. 2005
    ..protein and localized the dystrobrevin-binding site on the cargo-binding domain of neuronal kinesin heavy chain (Kif5A)...
  55. ncbi Chromosomal localization reveals three kinesin heavy chain genes in mouse
    Ch Xia
    Division of Cellular and Molecular Medicine, Department of Pharmacology, University of California at San Diego, 9500 Gilman Drive, La Jolla, California, 92093 0683, USA
    Genomics 52:209-13. 1998
    ..Here we definitively demonstrate that mouse has three kinesin heavy chain genes, Kif5a, Kif5b, and Kif5c...

Research Grants29

  1. Axonal Transport Deficits during Hereditary Spastic Paraplegia
    GERARDO ANDRES MORFINI; Fiscal Year: 2010
    ..Moreover, loss of function mutations in the SPG10 locus coding for a specific subunit of the molecular motor protein conventional kinesin lead to HSP, suggesting ..
  2. GENETIC AND IMMUNOLOGIC ANALYSIS OF MICROTUBULE PROTEINS
    Lawrence Goldstein; Fiscal Year: 2006
    ..Null and conditional knockout mutants in the three kinesin heavy chain (KIF5A, KIF5B, and KIF5C), and the two major kinesin light chain (KLC1 and KLC2) genes in the mouse will be generated and ..
  3. GENETIC AND IMMUNOLOGIC ANALYSIS OF MICROTUBULE PROTEINS
    Lawrence Goldstein; Fiscal Year: 2002
    ..conventional kinesin (kinesin-I) by analyzing mutants in the three different kinesin heavy chain subunits in mice (KIF5A, KIF5B, and KIF5C)...
  4. Mechanism of spastin-mediated microtubule severing
    Susan White; Fiscal Year: 2007
    ..appears to play an important role in maintaining neural health, as mutations in microtubule motors, such as KIF5a and dynein, also cause neurodegenerative disorders...
  5. AXONAL TRANSPORT OF NEUROFILAMENTS
    Anthony Brown; Fiscal Year: 2007
    ..The long-term goal of our research is to determine the mechanism and regulation of neurofilament protein transport along axons and the mechanisms that lead to the accumulation of neurofilaments in neurofilamentous neuropathies. ..
  6. Assembly and Axonal Transport of Neurofilaments
    Anthony Brown; Fiscal Year: 2010
    ....
  7. ASSEMBLY AND AXONAL TRANSPORT OF NEUROFILAMENT PROTEINS
    Anthony Brown; Fiscal Year: 2002
    ..By testing specific hypotheses on the assembly and axonal transport of neurofilaments, the studies proposed here represent an important step toward this goal. ..