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FLASH GENE
Symbol CLSTN1 contributors: mct - updated : 28-01-2015
HGNC name calsyntenin 1
HGNC id 17447
Location 1p36.22      Physical location : 9.789.079 - 9.884.550
Synonym name
  • alcadein alpha 1
  • non-classical cadherin XB31alpha1
  • cadherin-related family member 12
  • alzheimer-related cadherin-like protein
  • Synonym symbol(s) CSTN1, KIAA0911, CST1, FLJ32258, PIK3CD, XB31alpha, alcalpha1, alcalpha2
    DNA
    TYPE functioning gene
    STRUCTURE 95.47 kb     18 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 5209 - 981 - 2006 16760430
    18 - 5179 - 971 - 2006 16760430
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Endocrinepancreas   highly Homo sapiens
     parathyroid   highly
    Nervousnerve   highly
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney   highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain moderately
    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