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FLASH GENE
Symbol CNTN1 contributors: mct/npt - updated : 25-10-2016
HGNC name contactin 1
HGNC id 2171
Corresponding disease
FLCM familial lethal congenital myopathy
Location 12q12      Physical location : 41.086.357 - 41.464.094
Synonym name
  • lentil-lectin binding glycoprotein Gp135
  • neural cell surface protein F3
  • Synonym symbol(s) F3, GP135, MYPCN
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 379.97 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D12S1931 - D12S1474 - D12S2001 - (D12S1029 ,D12S1067 ) - D12S331 - D12S1928 - D12S3067 - D12S1930 - D12S1470 - D12S1243E - D12S1469 - D12S1269 - D12S1048 - D12S1668 - D12S1065 - (CNTN1 ,D12S315 ,D12S247 ) - D12S1271 - D12S1081 - D12S1296 - D12S1090 - D12S1130E - (D12S1424 ,D12S1589 ,D12S1592 ,D12S1198E ) - (D12S856 ,D12S1653 ) - D12S1473 - D12S29 - D12S1080 - qter
    Authors 4st Workshop chrom.12 (97)
    Physical map
    LOC390304 12 similar to KIAA0664 protein LOC121014 12p11 HSA12cenp11 beta-tubulin 4Q (TUBB4Q) pseudogene LOC390305 12 hypothetical gene supported by BX537850; NM_000267 LOC144245 12q12 similar to alpha2-glucosyltransferase CPNE8 12q12 copine VIII LOC121216 12q12 similar to Sucrase-isomaltase, intestinal KIF21A 12q12 kinesin family member 21A LOC390306 12 similar to Rpl7a protein ABCD2 12q11-q12 ATP-binding cassette, sub-family D (ALD), member 2 FLJ40126 12q12 hypothetical protein FLJ40126 SLC2A13 12p11.23 solute carrier family 2 (facilitated glucose transporter), member 13 DKFZp434H2111 12q12 hypothetical protein DKFZp434H2111 LOC390307 12 similar to submaxillary apomucin MUC19 12q12 mucin 19 CNTN1 12q11.2-q12 contactin 1 DKFZp434B0417 12q12 similar to semaF cytoplasmic domain associated protein 3 LOC283464 12q12 hypothetical protein LOC283464 YAF2 12p11.23 YY1 associated factor 2 LOC283465 12q12 similar to hepatocellular carcinoma autoantigen MADP-1 12q12 MADP-1 protein PPHLN1 12q12 periphilin 1 PRICKLE1 12q12 prickle-like 1 (Drosophila) LOC390308 12 hypothetical gene supported by NM_018464 MRPS36P5 12q12 mitochondrial ribosomal protein S36 pseudogene ADAMTS20 12q12 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20 LOC387852 12 similar to 52 kDa repressor of the inhibitor of the protein kinase (p58IPK-interacting protein) (58 kDa interferon-induced protein kinase-interacting protein) (P52rIPK) (Death associated protein 4) (THAP domain protein 0) LOC390309 12 similar to elongation factor 1 alpha DKFZP434G1415 12q12 hypothetical protein DKFZp434G1415 IRAK4 12q12 interleukin-1 receptor-associated kinase 4 PTK9 12q12 PTK9 protein tyrosine kinase 9 DKFZp434K2435 12q12 hypothetical protein DKFZp434K2435 ZNF75B 12q13 zinc finger protein 75b NELL2 12q13.1-q13.12 NEL-like 2 (chicken)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 6600 32 974 - 2016 26721881
    - - - - 963 brain 2016 26721881
    shorter N terminus
    24 - 5664 - 1018 - 2016 26721881
    23 - 5480 - 1007 - 2016 26721881
    16 - 3315 - 627 - 2016 26721881
    16 - 3528 - 627 - 2016 26721881
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    Nervousoligodendrocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six C2 Ig-like domains
  • four FNIII-like extracellular domains
  • a single transmembrane segment (TM)
  • a GPI anchor Ig-like and FNIII domains, wuth Ig repeats 2 and 3 that interact with the CA-like domain found at the N terminus of the PTPRZ1 extracellular domain
  • a short cytoplasmic tail
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • contactin family
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text expressed at the neuromuscular junction
    basic FUNCTION
  • neuronal cell adhesion molecule, involved in axon growth and initiating a NOTCH/DTX1 signaling pathway that promotes oligodendrocyte maturation and myelination
  • may play a role in the formation of axon connections in the developing nervous system
  • playing a role at the neuromuscular junction
  • playing a role in the regulation of neurite growth, synapse formation, fasciculation, and myelin organization
  • CNTN1, CNTN2 and L1-like proteins (NRCAM) play a significant role in modulating SHH-induced neuronal precursor proliferation
  • plays a general role in neural development and, in particular, in neuronal and oligodendrocyte differentiation
  • reduces CDH1 expression via activating AKT1 in lung cancer
  • is involved in several aspects of neural development including synapse building, maintenance and functioning
  • plays likely a role in promoting adult hippocampal neurogenesis and this effect correlates with improved synaptic function and memory
  • regulates both myelin formation and organization of nodal and paranodal domains in the CNS
  • neural cell adhesion protein, hat is a prostate cancer-promoting factor
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component PTPRZ1/CNTN1 complex is a previously unknown modulator of oligodendrogenesis
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NOTCH1 and NOTCH2 ligand
  • interacting with PTPRZ2 (Abdelhakim 2010)
  • PTPRZ1 binds specifically to CNTN1 expressed at the surface of oligodendrocyte precursor cells
  • enhances AKT1 activation in part by preventing PHLPP2-mediated AKT1 dephosphrorylation
  • PTPRA interacts with CNTN1 to form a membrane-spanning co-receptor complex to transduce extracellular signals to FYN tyrosine kinase
  • cell & other
    REGULATION
    Other regulated by CNTNAP1 (regulates the intracellular processing and transport of contactin to the cell surface, thereby affecting its ability to interact with other cell adhesion molecules)
    ASSOCIATED DISORDERS
    corresponding disease(s) FLCM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in glioblastomas compared with normal brain
    tumoral     --over  
    in gastric cancer tissues compared with adjacent normal tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • may be a novel biomarker of the cancer
  • Therapy target
    SystemTypeDisorderPubmed
    cancer  
    possible therapeutic target in cancer treatment in the near future
    cancerdigestivestomach
    may be a potential therapeutic target for gastric cancer
    ANIMAL & CELL MODELS