Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol KIF5A contributors: mct/shn - updated : 30-08-2023
HGNC name kinesin family member 5A
HGNC id 6323
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
  • is a key isoform of kinesin-1, which is a key molecular machinery in facilitating anterograde axonal mitochondrial transport
  • KIF5A directly regulates mitochondrial axonal transport in developing retinal ganglion cells (RGCs)
  • 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
  • SNPH mediates the activity-dependent immobilization of axonal mitochondria through binding to KIF5A
  • 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 , NEIMY , ALS25
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    amplified in certain tumors
    constitutional       loss of function
    mimics APP-induced axonal mitochondrial transport deficits, indicating a potential role of KIF5A deficiency in Alzheimer Disease-relevant axonal mitochondrial traffic abnormalities
    Susceptibility to multiple sclerosis
    Variant & Polymorphism SNP
  • rs1678542 in KIF5A confer susceptibility for multiple sclerosis (Pubmed 20508602)
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    potential therapeutic avenue by protecting KIF5A function for the treatment of AD
    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