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FLASH GENE
Symbol CNTNAP1 contributors: mct/pgu - updated : 23-11-2016
HGNC name contactin associated protein 1
HGNC id 8011
Corresponding disease
CHN1 congenital hypomyelinating neuropathy 1
LCCS7 lethal congenital contracture syndrome 7
Location 17q21.2      Physical location : 40.834.631 - 40.852.010
Synonym name
  • paranodin
  • contactin associated transmembrane receptor p1901 Caspr
  • neurexin 4
  • Synonym symbol(s) NRXN4, CASPR, P190, CNTNAP
    DNA
    TYPE functioning gene
    STRUCTURE 17.42 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status tentative : very preliminary evidence
    Physical map
    STAT5A 17q11.2 signal transducer and activator of transcription 5A MGC16063 17q21.31 hypothetical protein MGC16063 STAT3 17q21 signal transducer and activator of transcription 3 (acute-phase response factor) PTRF 17q21.2 polymerase I and transcript release factor ATP6V0A1 17q21.3 ATPase, H+ transporting, lysosomal V0 subunit a isoform 1 NAGLU 17q21.1 N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB) HSD17BP1 17q11-q21 hydroxysteroid (17-beta) dehydrogenase pseudogene 1 HSD17B1 17q21.1 hydroxysteroid (17-beta) dehydrogenase 1 DPCK 17q12-q21 bifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinase TCFL4 17q21.1 transcription factor-like 4 HUMGT198A 17q12-q21 GT198, complete ORF LOC162427 17q21.31 hypothetical protein LOC162427 TUBG1 17q21 tubulin, gamma 1 LOC342578 17q21.31 similar to high mobility group protein homolog HMG4 TUBG2 17q21 tubulin, gamma 2 FLJ21019 17q21.31 hypothetical protein FLJ21019 GPR2 17q21.1 G protein-coupled receptor 2 CNTNAP1 17q21 contactin associated protein 1 EZH1 17q21 enhancer of zeste homolog 1 (Drosophila) RAMP2 17q12-q21.1 receptor (calcitonin) activity modifying protein 2 MGC10540 17q21.31 hypothetical protein MGC10540 PRKWNK4 17q12 protein kinase, lysine deficient 4 HSPC009 17q21 HSPC009 protein FLJ40137 17q21.31 hypothetical protein FLJ40137 BECN1 17q21 beclin 1 (coiled-coil, myosin-like BCL2 interacting protein) PSME3 17q21 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) AOC2 17q21 amine oxidase, copper containing 2 (retina-specific) AOC3 17q21 amine oxidase, copper containing 3 (vascular adhesion protein 1) LOC90586 17q21.31 amine oxidase pseudogene LOC388387 17 hypothetical gene supported by AK055784 G6PC 17q21 glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease) MGC2744 17q21.31 hypothetical protein MGC2744 DKFZp761H0421 17q21.31 hypothetical protein DKFZp761H0421 RPL27 17q21 ribosomal protein L27 IFI35 17q21 interferon-induced protein 35 VAT1 17q21 vesicle amine transport protein 1 homolog (T californica) ARHN 17q21 ras homolog gene family, member N BRCA1 17q21 breast cancer 1, early onset
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 5471 - 1384 - 2003 14592966
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   predominantly
    Visualeyeretina    Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousoligodendrocyte
    Visualamacrine cell Mus musculus
    Visualganglion cell Mus musculus
    Visualrod photoreceptor Mus musculus
    cell lineage
    cell lines neuroblastoma
    fluid/secretion
    at STAGE
    Text in development of the nervous system
    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