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FLASH GENE
Symbol NCAM1 contributors: mct - updated : 26-11-2014
HGNC name neural cell adhesion molecule 1
HGNC id 7656
Location 11q23.2      Physical location : 112.831.994 - 113.149.157
Synonym name
  • antigen CD56, 220-135kD, glycoprotein identified by antibodies NKH1A, Leu19, FP2-11.14, L185, N901, t-199
  • neural cell adhesion molecule 1, 140 kDa isoform
  • neural cell adhesion molecule 1, 120 kDa isoform
  • CD56 antigen
  • Synonym symbol(s) CD56, NCAM, MSK39, NCAM-140, NCAM-120
    DNA
    TYPE functioning gene
    STRUCTURE 317.19 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see AT , DRD2
    Physical map
    LOC387808 11 similar to KIAA1735 protein DLAT 11q23.1 dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) LOC246731 11q23 peptidyl prolyl isomerase H (cyclophilin H) pseudogene LOC120379 11q23.2 hypothetical protein BC019238 FLJ10726 11q23.2 hypothetical protein FLJ10726 TIMM8B 11q23.1-q23.2 translocase of inner mitochondrial membrane 8 homolog B (yeast) SDHD 11q22.3-q23.1 succinate dehydrogenase complex, subunit D, integral membrane protein IL18 11q22.2-q22.3 interleukin 18 (interferon-gamma-inducing factor) TEX12 11q22 testis expressed sequence 12 BCDO2 11q22.3-q23.1 beta-carotene dioxygenase 2 MRPS36P4 11q23.2 mitochondrial ribosomal protein S36 pseudogene PTS 11q22.3-q23.3 6-pyruvoyltetrahydropterin synthase PLET1 11q23.2 placenta expressed transcript 1 LOC387809 11 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein LOC387810 11 LOC387810 NCAM1 11q23.1 neural cell adhesion molecule 1 TTC12 11q23.2 tetratricopeptide repeat domain 12 ANKK1 11q23.2 ankyrin repeat and kinase domain containing 1 DRD2 11q23.1 dopamine receptor D2 TMPRSS5 11q23 transmembrane protease, serine 5 (spinesin) ZW10 11q22-q23.3 ZW10 homolog, centromere/kinetochore protein (Drosophila) LOC255244 11q23.3 similar to Claudin-22 LOC390251 11 hypothetical gene supported by AK093353 LOC143920 11q23.3 similar to activating transcription factor 4; cAMP response element-binding protein 2 USP28 11q23 ubiquitin specific protease 28
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 splicing 5981 94 858 expressed in primary cortical neurons 2007 17212696
  • also called NCAM-180
  • trans-membrane protein
  • NCAM-180/spectrin-mediated modulation of the actin cytoskeleton
  • binds directly to dynein, facilitating microtubule tethering at the cortex and enhancing cell-cell adhesion and synaptic density
  • loss of the NCAM180 isoform leads to alterations in synaptic morphology as well as function
  • 19 splicing 5951 93 848 expressed in primary cortical neurons 2007 17212696
  • also called NCAM-140
  • lacking the DBS domain
  • trans-membrane protein
  • mediating activation of FYN
  • ectopic expression of the NCAM140 isoform in radial glia and type C cells induces an increase in cell proliferation and consequently the presence of additional neuronal type A cells in the rostral migratory stream (PMID: 19788570)
  • partial co-localization of NCAM140 with UFC1 and UFM1 and increased endocytosis of NCAM140 in the presence of UFM1 (PMID: 24726913)
  • 20 splicing 4918 83 761 predominant isoform in oligodendrocytes 2007 17212696
  • also called NCAM-120
  • glycosylphosphatidylinositol-linked
  • lacking the DBS domain
  • 21 - 6070 - 884 - 2007 17212696
    17 - 4831 - 726 - 2007 17212696
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   specific
    Reproductivefemale systemuterus  lowly
     male systemtestis  lowly
    Urinarykidneynephron  highly Homo sapiensFetal
     kidneyrenal medulla  highly Homo sapiensFetal
    Visualeyeretina  lowly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte Homo sapiens
    Nervousneuron Homo sapiens
    VisualMuller cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five immunoglobulin-like (Ig) extracellular domains
  • two fibronectin type III-like domains
  • an intracellular domain of NCAM (residues 9751105) 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
    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