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FLASH GENE
Symbol KIF1B contributors: mct/pgu - updated : 13-04-2017
HGNC name kinesin family member 1B
HGNC id 16636
DNA
TYPE functioning gene
STRUCTURE 170.89 kb     47 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
47 - 10585 199 1770 in a wide variety of tissues 2008 18334619
  • also called KIF1B beta or variant 1
  • mediate transport of axonal vesicles
  • induced apoptotic cell death
  • deletion in primary neuroblastomas significantly correlated with advanced stages
  • may act as a haploinsufficient tumor suppressor, and its allelic loss may be involved in the pathogenesis of neuroblastoma and other cancers
  • familial missense mutations in neuroblastomas and pheochromocytomas and acquired loss-of-function mutation in a medulloblastoma
  • 21 - 7680 - 1153 in several tissues , testis, muscle 2008 18334619
  • also called KIF1B alpha or variant 2
  • distinct from KIF1Bbeta in the C-terminal cargo-binding domain
  • mediating distribution of mitochondria
  • KIAA1279 is a new binding partner that is a regulator of its transport function and thus represents a new type of kinesin interacting protein
  • - - 8776 - 1388 - 2003 12888911
  • also called KIF1B beta2
  • an amino terminal KIF1B-type motor domain followed by a tail region highly similar to that of KIF1A
  • causative gene of Charcot-Marie-Tooth disease type 2A
  • mediating the transport of synaptic vesicles in neuronal cells
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrain   highly
     spinal cord   highly
    Reproductivefemale systemovary   
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines favorable neuroblastoma cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain, kidney, skeletal muscle, pancreas
    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