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FLASH GENE
Symbol KIF1A contributors: mct/npt/shn - updated : 03-05-2011
HGNC name kinesin family member 1A
HGNC id 888
Corresponding disease
DEL2Q37 chromosome 2q subtelomeric deletion syndrome
HSN2C neuropathy, hereditary sensory, type IIC
MRD9 mental retardation, autosomal dominant 9
SPG30 spastic paraplegia 30
Location 2q37.3      Physical location : 241.653.184 - 241.759.624
Synonym name
  • axonal transport of synaptic vesicles
  • kinesin, heavy chain, member 1A, homolog of mouse
  • chromosome 2 open reading frame 20
  • microtubule-based motor KIF1A
  • unc-104- and KIF1A-related protein
  • Synonym symbol(s) UNC104, ATSV, C2orf20, FLJ30229, HUNC-104, MGC133285, MGC133286, DKFZp686I2094, HUNC-104
    DNA
    TYPE functioning gene
    STRUCTURE 106.44 kb     47 Exon(s)
    regulatory sequence
    text structure conserved essential regulatory element in the kinesin-1 tail interacts directly and specifically with the enzymatically critical Switch I region of the head
    MAPPING cloned Y linked N status provisional
    Map cen - D2S125 - D2S395 - KIF1A - D2S140 - D2S2585 - qter
    regionally located previously mapped to 9q34
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    47 - 8843 - 1690 - 2004 15014437
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnerve   highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal globular domain
  • a forkhead-associated (FHA) domain
  • a motor domain
  • an ATP and the microtubule binding sites
  • a long alpa-helical coiled-coil region (CC2, stalk region), involved in dimerization
  • a small C terminal domain, potentially involved in interaction with other proteins, vesicles or organelles
  • mono polymer monomer
    HOMOLOGY
    interspecies ortholog to Kif1a, Mus musculus
    ortholog to Kif1a, Rattus norvegicus
    ortholog to kif1a, Danio rerio
    ortholog to KIF1A, Pan troglodytes
    Homologene
    FAMILY
  • kinesin 3 family
  • CATEGORY motor/contractile , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text axonal synaptic vesicles
    basic FUNCTION
  • axonal transporter of synaptic vesicles
  • microtubule associated motor protein
  • the fast anterograd transporter in axons
  • involved in nuclear migration and neurogenesis, suggesting a cell cycle-dependent switch between distinct microtubule motors driving interkinetic nuclear migration
  • remains associated with Dense-core vesicles (DCVs) during retrograde DCV transport, in hippocampal neurons
  • is indispensable for BDNF-mediated hippocampal synaptogenesis and learning enhancement induced by enrichment
  • plays prominent roles in axonal transport and synaptogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • anterograde motor protein that transports membranous organelles along axonal microtubules
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Liprin-alpha/SYD-2
  • intramolecular interaction in KIF1A between the forkhead-associated (FHA) domain and a coiled-coil domain (CC2)
  • Herpes simplex virus type 2 membrane protein UL56
  • DCX is essential for the function of KIF1a, a kinesin-3 motor protein that traffics synaptic vesicles
  • DCLK1 guides KIF1A-mediated cargo transport to dendrites
  • cell & other
    REGULATION
    inhibited by intramolecular interaction between the FHA domain and a coiled coil domain (CC2)
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL2Q37 , SPG30 , HSN2C , MRD9
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by promoter methylation, associated with breast cancer and inversely associated with DNA repair capacity (DRC)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for autism/behaviordisorder/eczema in the del2q37 syndrome
    Marker
    Therapy target
    ANIMAL & CELL MODELS