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FLASH GENE
Symbol KIFBP contributors: mct - updated : 07-09-2017
HGNC name KIF1 binding protein
HGNC id 23419
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