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FLASH GENE
Symbol KIF1B contributors: mct/pgu - updated : 13-04-2017
HGNC name kinesin family member 1B
HGNC id 16636
Corresponding disease
CMT2A1 Charcot-Marie-Tooth disease, axonal, type 2A1
Location 1p36.22      Physical location : 10.270.763 - 10.441.659
Synonym name
  • kinesin superfamily protein KIF1B
  • kinesin-like protein KIF1B
  • Synonym symbol(s) KLP, KIAA0591, CMT2A, KIAA1448, KF1B, FLJ23699, HMSNII, MGC134844, NBLST1, CMT2
    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
    Physical map
    LOC390994 1 similar to 60S ribosomal protein L23a ENO1 1p36.2 enolase 1, (alpha) LOC148915 1p36.22 hypothetical LOC148915 CA6 1p36.2 carbonic anhydrase VI LOC390995 1 similar to Solute carrier family 2, facilitated glucose transporter, member 5 (Glucose transporter type 5, small intestine) (Fructose transporter) SLC2A5 1p36.2 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 GPR157 1p36.22 G protein-coupled receptor 157 H6PD 1p36.3 hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) SSB1 1p36.22 SPRY domain-containing SOCS box protein SSB-1 MGC4399 1p36.22 mitochondrial carrier protein LOC199953 1p36.22 similar to expressed sequence AV028368 PIK3CD 1p36.2 phosphoinositide-3-kinase, catalytic, delta polypeptide CLSTN1 1p36.22 calsyntenin 1 CTNNBIP1 1pter-p36.31 catenin, beta interacting protein 1 LZIC 1p36.22 leucine zipper and CTNNBIP1 domain containing NMNAT1 1p36.2 nicotinamide nucleotide adenylyltransferase 1 CRBPIV 1p36.22 retinoid binding protein 7 UBE4B 1p36.3- ubiquitination factor E4B (UFD2 homolog, yeast) KIF1B 1p36.2 kinesin family member 1B LOC388593 1 LOC388593 PGD 1p36.31 phosphogluconate dehydrogenase CORT 1p36.3-p36.2 cortistatin DFFA 1p36.3-p36.2 DNA fragmentation factor, 45kDa, alpha polypeptide PEX14 1p36.3-p36.2 peroxisomal biogenesis factor 14 LOC163301 1p36.22 similar to BC035954 protein FLJ20321 1p36.22 hypothetical protein FLJ20321 FLJ37118 1p36.22 hypothetical protein FLJ37118 LOC390996 1 similar to Cofilin, non-muscle isoform TARDBP 1p36.22 TAR DNA binding protein AF311304 1p36.22 hypothetical protein AF311304 MASP2 1p36.3-p36.2 mannan-binding lectin serine protease 2 SRM 1p36-p22 spermidine synthase PMSCL2 1p36.22 polymyositis/scleroderma autoantigen 2, 100kDa FRAP1 1p36.3-p36.2 FK506 binding protein 12-rapamycin associated protein 1 CDT6 1p36.3-p36.2 angiopoietin-like factor TERE1 1p36 angiopoietin-like factor KIAA1337 1p36.21 KIAA1337 protein FBXO2 1p36.21 F-box only protein 2 FBX30 1p36.21 F-box protein FBX30 FBXO6 1p36.23-p36.11 F-box only protein 6 MAD2L2 1p36 MAD2 mitotic arrest deficient-like 2 (yeast) LOC374946 1p36.21 hypothetical gene supported by AK075558; BC021286
    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
  • 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