Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CNTNAP1 contributors: mct/pgu - updated : 23-11-2016
HGNC name contactin associated protein 1
HGNC id 8011
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • at extracellular N terminus, a discoidin/factor V homology region
  • three neurexin-like domains, a fibrinogen beta/gamma related sequence
  • EGF, epidermal growth factor-like repeat
  • a sequence composed of eight repeats of Pro-Gly-Tyr (PGY), followed by a single transmembrane segment
  • a short cytoplasmic C terminal tail with a proline rich sequence
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to Drosophila neurexin 4,but structurally different from NRXN2 or NRXN3
    Homologene
    FAMILY
  • neurexin family
  • CATEGORY adhesion , signaling , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • putative mediator of glial-cell adhesion
  • may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons
  • playing an essential role for the structure and function of septate-like paranodal axoglial junctions at nodes of Ranvier
  • required for formation of the paranodal junction in myelinated nerves
  • role in organizing the localization of different voltage-gated ion channels in and around nodes of Ranvier
  • CNTNAP1 is a regulator of the trafficking of AMPA receptors to synapses
  • plays roles in formation of paranodal junctions in myelinated axons, neurite outgrowth, synaptic plasticity in nervous system
  • essential component of node of Ranvier domains which underlies saltatory conduction of action potentials along the myelinated axons, an important process for neuronal function
  • CNTNAP1, CNTNAP2 are required for the organization of the axolemma both radially, manifested as the mesaxonal line, and longitudinally, demarcated by the nodal domains
  • constitutes a new antigen that leads to autoantibody generation as part of the novel entity of neuropathies associated with autoantibodies against paranodal proteins
  • encodes CASPR1, an essential component of the paranodal axoglial junction composed by CASPR1, contactin-1, and neurofascin-155 (NF155)
  • essential component of the paranodal junctions of the peripheral and central nervous systems, that is necessary for the establishment of transverse bands that stabilize paranodal axo-glial junctions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • CASPR and contactins (CNTN1, CNTN2, CNTN3, CNTN4, CNTN5, CNTN6 form a complex that is targeted to the paranodal junctions during myelination
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding EPB41 and EPB41L3 through the GNP motif
  • co-localizes and interacts with APP, and reduces amyloid-beta generation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LCCS7 , CHN1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    appear to induce characteristic ultrastructural lesions of the paranodal region
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • nodal/paranodal axoplasm of shm mice lack paranodal junctions and contain large mitochondria and abnormal accumulations of cytoplasmic organelles that indicate altered axonal transport