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FLASH GENE
Symbol KIFBP contributors: mct - updated : 07-09-2017
HGNC name KIF1 binding protein
HGNC id 23419
Corresponding disease
GOSHS Goldberg-Shprintzen megacolon syndrome
Location 10q22.1      Physical location : -
Genatlas name kinesin binding protein
Synonym name
  • KIAA1279
    • Synonym symbol(s) KBP, TTC20, DKFZP586B0923, KIAA1279, KIF1BP
    DNA
    TYPE functioning gene
    STRUCTURE 28.26 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2548 - 621 - 2005 16225668
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel    
    Nervousbrain     Homo sapiens
     gangliasensory ganglia    Homo sapiens
    Reproductivemale systemtestis    Homo sapiens
    Urinarykidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatid Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two tetratrico peptide repeats (TPRs), which are structural motifs consisting of 34 amino acid residues, in exon 1/2 and exon 4, respectively, mediating protein–protein interactions
    • HOMOLOGY
    interspecies ortholog to rattus Ddx21b_predicted
    Homologene
    FAMILY
  • TPR protein family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytoskeleton
    text
  • during spermatogenesis both KIF3A and KIF1BP localized in the cytoplasm of round spermatids and manchette of elongating spermatids
    • basic FUNCTION
  • may play a role in both perpherical and central nervous system
  • required for axonal outgrowth and maintenance
  • plays a role in mitochondria localization and distribution
  • required for cell differentiation and neurite development
  • involved in neuronal differentiation and the central and enteric nervous system defects seen in GOSHS are likely caused by microtubule-related defects
  • necessary role for proper neuronal differentiation and neuronal development
  • has an important role in modulating STMN2 function during neuronal development
  • role for KIF1BP in spermatid elongation and in the function of the late chromatoid body (CB)
  • both KIF15 and KIFBP are required for the alignment of all the chromosomes to the metaphase plate and the assembly of stable kinetochore fibers of the correct length
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds almost exclusively to microtubule associated or related proteins, specifically STMN2 and several kinesins
  • KIFBP is a specific interaction partner of KIF15 in mitosis, and promotes the localization of KIF15 to the spindle equator close to the chromosomes
  • KIFBP reduces the activity of KIF18A and KIF15 during metaphase (directly inhibits KIF18A and KIF15 motor activity by preventing microtubule binding)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GOSHS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in polymicrogyria
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS