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FLASH GENE
Symbol NCAM1 contributors: mct - updated : 26-11-2014
HGNC name neural cell adhesion molecule 1
HGNC id 7656
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • five immunoglobulin-like (Ig) extracellular domains
  • two fibronectin type III-like domains
  • an intracellular domain of NCAM (residues 975–1105) is a binding partner of dynein
  • a conserved C-terminal motif that may signal via myosin light chain kinase to regulate myosin-driven synaptic vesicle trafficking at the presynaptic terminal
    • HOMOLOGY
    interspecies homolog to rattus Ncam1 (95.22 pc)
    homolog to murine Ncam1 (91.14 pc)
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • immunoglobulin C-2 type family
  • neural cell adhesion molecule signature
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    text
  • endocytosed and subsequently recycled to the plasma membrane, whereas only a minor fraction was degraded in lysosomes
    • basic FUNCTION
  • involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites
  • major polysialyl acid -carrying glycoprotein
  • promotes assembly of the spectrin-based postsynaptic signaling complex, which is required for activity-associated, long-lasting changes in synaptic strength
  • plays an important role during neural development and in the adult brain
  • plays an important role during neural development and in the adult brain, whereby most functions of NCAM1 have been ascribed to its unique polysialic acid (PSA) modification
  • membrane-bound cell recognition molecule that exerts important functions in normal neurodevelopment including cell migration, neurite outgrowth, axon fasciculation, and synaptic plasticity
  • role of NCAM1 in promoting insulin signaling and adipocyte differentiation of adult stem cells (pMID: 21730021)
  • exhibits a regulatory function in pathological angiogenesis in oxygen induced retinopathy
  • homeostatic regulation of NCAM1 polysialylation is critical for correct synaptic targeting
  • vital function of NCAM in MSCs migration and differentiation thus raising the possibility of manipulating NCAM expression to enhance homing and therapeutic potential of MSCs in cellular therapy
  • NCAM1 activates PAK1 to drive actin polymerization to promote neuronal differentiation
  • cell adhesion molecule that has been widely implicated in axonal outgrowth, guidance and fasciculation
  • implicated in different neurodevelopmental processes and in synaptic plasticity in adult brain
    • CELLULAR PROCESS cell life, differentiation
    cell communication
    PHYSIOLOGICAL PROCESS development , nervous system
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with GFRA1 to downregulate NCAM-mediated cell adhesion
  • binding to FGFR1 and FGFR2
  • associates with the postsynaptic spectrin-based scaffold, cross-linking NCAM1 with the N-methyl-d-aspartate (NMDA) receptor and Ca2+/calmodulin-dependent protein kinase II alpha (CAMK2A)
  • directly interacts with the intracellular domain of the receptor-like protein tyrosine phosphatase PTPRA, a known activator of FYN
  • interacting with GAP43 (play pivotal roles in neuronal development and plasticity and possess inter-dependent functions)
  • GDNF-induced neurite outgrowth via NCAM1 differs from NCAM1-induced neurite outgrowth by being independent of NCAM1 polysialylation)
  • directly binds to NTRK2 and KCNJ9
  • co-localization of NCAM1 and FGFR2 in early vertebrate development with intracellular signaling pathways present to enable a cellular response
  • NCAM1 regulates RIC8A membrane localization and potentiates beta-adrenergic response
  • UCHL1 is a novel interaction partner of both NCAM1 isoforms (NCAM140, NCAM180) that regulates their ubiquitination and intracellular trafficking
  • NCAM1 interacts with PAK1 in growth cones of neurons
  • NTRK2 and NCAM1 are downstream targets of NEUROD1 that contribute to the actions of NEUROD1 in neuroendocrine lung
  • dynein-NCAM180 interaction might have a role in regulating microtubule dynamics and enhancing cell-cell interactions in these cells
  • dynein-NCAM1 interaction might have a functional role at synapses
    • cell & other
    REGULATION
    Other ubiquitylated, endocytosed and recycled in neurons
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    is one of the factors associated with or possibly responsible for disease progression in multiple sclerosis
    constitutional       gain of function
    plays a pivotal role in the pathogenesis of ischemic cardiomyopathy (ICM) and may be a target for future immunotherapeutic strategies in the treatment of this common and often fatal disease
    constitutional     --over  
    of CHRNG, CHRND, NCAM1, RUNX1 associated with neuromuscular junction denervation in ageing
    tumoral     --over  
    in follicular adenoma (FA), and nonneoplastic thyroid lesions
    Susceptibility
  • to neural tube defects
  • to alcohol dependence
  • to left ventricular wall thickness and relative wall thickness in hypertensive families
    • Variant & Polymorphism SNP , other
  • SNP associated to neural tube defects
  • variant of exon12/intron 13 increasing risk of alcohol dependence
  • variant in NCAM1 associated with left ventricular wall thickness and relative wall thickness in hypertensive families
    • Candidate gene
    Marker
  • expression of NCAM1 is an unfavorable prognostic marker for acute promyelocytic leukemia with higher initial white blood cell counts
    • Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousurinarychronic kidney disease
    ability to influence an endogenous regenerative response via NCAM1 targeting may lead to novel therapeutics for renal diseases
    ANIMAL & CELL MODELS
  • bone marrow-derived MSCs from Ncam deficient mice exhibit defective migratory ability and significantly impaired adipogenic and osteogenic differentiation potential