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FLASH GENE
Symbol NRCAM contributors: mct - updated : 23-11-2016
HGNC name neuronal cell adhesion molecule
HGNC id 7994
Location 7q31.1      Physical location : 107.788.070 - 108.096.841
Synonym name protein BRAVO/NR-CAM
Synonym symbol(s) BNCAM, KIAA0343, BRAVO , Nr-CAM
DNA
TYPE functioning gene
STRUCTURE 308.00 kb     29 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 4134 - 1299 - Lare
including the fifth FBNIII repeat
29 - 6313 130.7 1180 - 1998 9604207
  • 5 Immunoglobulin I-set domain, 6 Immunoglobulin domain, 2 Immunoglobulin V-set domain, 4 Fibronectin type III domain [Pfam], a transmembrane domain
  • - - - - ? - Lare
    partially lacking FBNIII-5
    - - - - ? - Lare
    partially lacking FBNIII-5
    28 - 6322 131 1183 - 1998 9604207
  • 5 Immunoglobulin I-set domain, 6 Immunoglobulin domain, 2 Immunoglobulin V-set domain, 4 Fibronectin type III domain [Pfam], a transmembrane domain
  • 30 - 6349 131.7 1192 - 1998 9604207
  • 5 Immunoglobulin I-set domain, 6 Immunoglobulin domain, 2 Immunoglobulin V-set domain, 4 Fibronectin type III domain [Pfam], a transmembrane domain
  • 31 - 6406 - 1211 - 1998 9604207
    30 - 6305 143.9 1304 - 1998 9604207
  • 5 Immunoglobulin I-set domain, 6 Immunoglobulin domain, 2 Immunoglobulin V-set domain, 5 Fibronectin type III domain
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly Homo sapiens
     pancreas     Homo sapiens
    Hearing/Equilibriumearinnercochlea highly Homo sapiensFetal
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemplacenta    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text cerebellum
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six Ig-like and five FNIII-like extracellular domains
  • a single transmembrane segment (1TM)
  • a short cytoplasmic tail
  • HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin superfamily L1/NgCAM and neurofascin related
  • L1 family of cell adhesion molecules
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • involved in axon growth
  • playing a possible role in the maturation or stabilization of the synaptic contacts, in particular between climbing fibers and Purkinje cells
  • CNTN1, CNTN2 and L1-like proteins (NRCAM) play a significant role in modulating SHH-induced neuronal precursor proliferation
  • required for normal maturation of cortical visual acuity
  • functions in cell adhesion and modulates signaling pathways in neural development through multiple molecular interactions with guidance and other factors
  • is a regulator of axon growth and repellent guidance, and has been implicated in autism spectrum disorders
  • neuronal cell adhesion molecule involved in neuron-neuron and neuron-glial adhesion as well as directional signaling during axonal cone growth
  • has been shown to be involved in several cellular processes in the central and peripheral nervous systems, including neurite outgrowth, axonal pathfinding and myelination, fasciculation of nerve fibers, and cell migration
  • role for NRCAM in the pathfinding of spiral ganglion dendrites toward their hair cell targets in the sensory epithelium
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CNTN2 (role in the development of the cerebellar system)
  • initial clustering of Na(+) channels at heminodes requires glial NRCAM and GLDN, as well as their axonal receptor neurofascin 186 (NFASC186)
  • interaction with neuropilin-2 is critical for semaphorin 3F (SEMA3F)-induced guidance of thalamocortical axon subpopulations at the ventral telencephalon, an intermediate target for thalamic axon sorting
  • in the peripheral nervous system (PNS), the axoglial contact mediated by the binding of glial GLDN and NRCAM to axonal NFASC186 is crucial for the initial clustering of voltage-gated Na+ channels at the nodes of Ranvier
  • contributes to mediolateral retinocollicular axon targeting by regulating retinal ganglion cells (RGCs) branch orientation through a likely mechanism in which ephrinB/EphB phosphorylates NRCAM to modulate linkage to the actin cytoskeleton
  • is a novel postnatal regulator of dendritic spine density in cortical pyramidal neurons, and an integral component of the SEMA3F receptor complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    overexpressed in papillary thyroid carcinomas at the mRNA and protein levels, whatever the tumour stage
    tumoral     --over  
    in papillary thyroid cancer (PTCs)
    Susceptibility to autism (AUTS1)
    Variant & Polymorphism SNP
  • seven SNPs in the NRCAM gene were significantly associated with autism, among which rs2300045 is the most prominent
  • Candidate gene for AUTS9
    Marker
  • may represent a potential diagnostic marker for thyroid cancer
  • Therapy target
    SystemTypeDisorderPubmed
    cancerendocrinethyroid
    may represent a potential therapeutic target for thyroid cancer
    ANIMAL & CELL MODELS
  • concurrent Lpin1 and Nrcam mouse mutations result in severe peripheral neuropathy with transitory hindlimb paralysis