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FLASH GENE
Symbol KIF5A contributors: mct/shn - updated : 16-10-2014
HGNC name kinesin family member 5A
HGNC id 6323
Corresponding disease
SPG10 spastic paraplegia 10
Location 12q13.3      Physical location : 57.943.846 - 57.978.554
Synonym name
  • kinesin heavy chain neuron- specific 1
  • kinesin, heavy chain, neuron-specific
  • KIF5A variant protein
  • neuronal kinesin heavy chain
  • kinesin heavy chain isoform 5A
  • spastic paraplegia 10 (autosomal dominant)
  • Synonym symbol(s) D12S889, NKHC, KINN, MY050, SPG10
    DNA
    TYPE functioning gene
    STRUCTURE 34.71 kb     29 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D12S1644 - D12S1691 - KIF5A - D12S90 - D12S305 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 3897 - 1032 - 2008 18203753
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonamygdala highly
     nerve   highly Homo sapiens
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    Nervousperipherous    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye, retina ,lens, anterior segment, choroid, RPE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal globular domain
  • the motor domain with an ATP and the microtubule binding sites
  • a long alpa-helical coiled-coil region (stalk region), involved in dimerization
  • a small C terminal domain, potentially involved in interaction with other proteins, vesicles or organelles
  • mono polymer oligo
    HOMOLOGY
    interspecies homolog to Drosophila costal 2
    ortholog to Kif5a, Mus musculus
    ortholog to Kif5a, Rattus norvegicus
    ortholog to KIF5A, Pan troglodytes
    Homologene
    FAMILY
  • Kinesin superfamily proteins
  • CATEGORY motor/contractile , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    text perinuclear region of neuron, organelles membres
    basic FUNCTION
  • involved in dendritic transport of RNA
  • mitotic microtubule-associated motor protein, modulates neuronal migration
  • a role in process outgrowth and axonal transport of mitochondria
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , cellular trafficking transport
    text axoplasmic flow : intracellular movement from neural cell body to the lip of axon
    PATHWAY
    metabolism
    signaling neurotransmission
    synaptic transmission
    a component
  • component of a complex with two kinesins, heavy chain and two light chains (KIF5A, KIF5B, KLC2, KLC1) (Morton 2010)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Beta-dystrobrevin, DTNB
  • Pur alpha-containing granules
  • ZFYVE27 interact with other hereditary spastic paraplegia-related proteins including myelin proteolipid protein 1 (PLP1), atlastin-1 (ATL1), REEP1, REEP5 (similar to REEP1), KIF5A, KIF5B, KIF5C
  • GSK3B regulates the sorting of GPHN and NLGN2 complexes in a KIF5A-dependent manner
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG10
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    amplified in certain tumors
    Susceptibility to multiple sclerosis
    Variant & Polymorphism SNP
  • rs1678542 in KIF5A confer susceptibility for multiple sclerosis (Pubmed 20508602)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • KIF5A knockout (KIF5A( -/- )) mice die early after birth whose lungs are unexpanded, and cell bodies of lower motor neurons in the spinal cord swollen
  • Outgrowth of axons and dendrites is remarkably diminished in mouse KIF5A( -/- ) motor neurons and the number of axonal branches is reduced and sensory neurons, neurite outgrowth as well
  • Ectopic expression of Drosophila Khc carrying a human KIF5A-associated mutation (N256S) is sufficient to disturb axonal transport and to induce motoneuron disease in Drosophila