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FLASH GENE
Symbol CLSTN1 contributors: mct - updated : 28-01-2015
HGNC name calsyntenin 1
HGNC id 17447
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a cytoplasmic synaptic Ca2+ binding domain
  • two cadherin domains
  • two highly conserved segments in the cytoplasmic domain of calsyntenin-1 mediate binding to the tetratricopeptide repeats of KLC1
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Clstn1
    homolog to Drosophila calsyntenin-1
    homolog to C.elegans B0034.3a
    Homologene
    FAMILY
    CATEGORY adhesion , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text type I membrane protein
    basic FUNCTION
  • modulating calcium-mediated postsynaptic signals
  • inducing vesicle association of kinesin-1 motor components and activates axonal transport
  • cargo regulating kinesin-1 function and associated with APP transport and metabolism
  • function outside the nervous system and potentially is modulator of endocrine function
  • acts as a general mediator of anterograde axonal transportation of endosomal vesicles
  • may actively contribute to axonal growth and pathfinding in the developing as well as to the maintenance of neuronal polarity in the adult nervous system
  • CLSTN1/APP organelles as carriers for sheltered anterograde axonal transport of APP
  • key role for CLSTN1 in the transport of NMDA receptors to synaptic targets, which is necessary for the maturation of neuronal circuits during early development
  • essential regulator of axon branching and neuronal compartmentalization
  • regulates transport of RAB5-containing endosomes from the cell body to specific locations of developing axons
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Ca2+
    protein
  • direct interaction with the light chain of Kinesin-1 (KLC1), linking a certain type of vesicular and tubulovesicular organelles to the Kinesin-1 motor
  • interacting with APP (coordinated metabolism of Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation)
  • phosphorylation of KLC1ser460 represents a mechanism for selectively regulating the binding and trafficking of CLSTN1
  • is a ligand for kinesin-1 light chains (KLC1) and APP is transported through axons on kinesin-1 molecular motors
  • disruption of CLSTN1-associated axonal transport of APP is a pathogenic mechanism in Alzheimer disease
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Alzheimer disease brains and the extent of this reduction correlates with increased APP levels
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS