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FLASH GENE
Symbol KIF1B contributors: mct/pgu - updated : 13-04-2017
HGNC name kinesin family member 1B
HGNC id 16636
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one kinesin motor domain
  • one FHA domain
  • one pleckstrin homology (PH) domain at C terminus, lacking a motor domain
    • HOMOLOGY
    interspecies homolog to murine Kf1b
    intraspecies homolog to ATSV (KIF1A)
    Homologene
    FAMILY
  • kinesin-like protein family
  • UNC104 subfamily
  • Kinesin-3 family
    • CATEGORY motor/contractile , tumor suppressor , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • involved in transport of synaptic vesicle precursors, in the anterograde transport of mitochondria
  • kinesin superfamily member involved in the transport of organelles and vesicles
  • motor proteins implicated in anterograde transport of mitochondria and synaptic vesicle precursors
  • STARD13 and KIF1B are thus central components of a signalling network that guides spindle positioning, cell-cell adhesion and mitotic fidelity
    • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS mitochondrial transport
    text neuronal differentiation and survival
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bound to the specific region of KIF1B (813-916 aa), but not to other kinesin family members
  • XAF1 is likely a downstream target of KIF1B beta
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT2A1
    related resource Mutation Database of Inherited Peripheral Neuropathies
    KinMutBase: A registry of disease causing mutations in tyrosine kinase domains
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in favorable subset of primary neuroblastoma
    tumoral     --low  
    in unfavorable subset of primary neuroblastoma
    Susceptibility
  • to multiple sclerosis
  • to hepatitis B virus (HBV)-related hepatocellular carcinoma
    • Variant & Polymorphism SNP
  • variant rs10492972 (SNP located in intron 5) associated to multiple sclerosis
  • intronic SNP (rs17401966) highly associated with HBV-related HCC (
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS