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CNTN1 Gene

protein-coding   GIFtS: 70
GCID: GC12P041086

Contactin 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Contactin 11 2
Glycoprotein Gp1351 2 3
Neural Cell Surface Protein F32 3
F32
GP1352
contactin-12

External Ids:    HGNC: 21711   Entrez Gene: 12722   Ensembl: ENSG000000182367   OMIM: 6000165   UniProtKB: Q128603   

Export aliases for CNTN1 gene to outside databases

Previous GC identifers: GC12P041375 GC12P040985 GC12P040803 GC12P039372 GC12P039508 GC12P038113


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CNTN1 Gene:
The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a
glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule.
It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively
spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Dec
2011)

GeneCards Summary for CNTN1 Gene:
CNTN1 (contactin 1) is a protein-coding gene. Diseases associated with CNTN1 include compton-north congenital myopathy, and myopathy congenital. GO annotations related to this gene include carbohydrate binding and glycoprotein binding. An important paralog of this gene is CHL1.

UniProtKB/Swiss-Prot: CNTN1_HUMAN, Q12860
Function: Contactins mediate cell surface interactions during nervous system development. Involved in the
formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and
myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting
as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch
intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion
of neurons and an inhibition of neurite outgrowth (By similarity)

Gene Wiki entry for CNTN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNTN1 gene promoter:
         AhR   RP58   C/EBPbeta   ISGF-3   MyoD   CUTL1   LCR-F1   Arnt   C/EBPalpha   COMP1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNTN1 promoter sequence
   Search Chromatin IP Primers for CNTN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNTN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q11-q12   Ensembl cytogenetic band:  12q12   HGNC cytogenetic band: 12q11-q12

CNTN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNTN1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P041086:  view genomic region     (about GC identifiers)

Start:
41,086,244 bp from pter      End:
41,466,220 bp from pter
Size:
379,977 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CNTN1_HUMAN, Q12860 (See protein sequence)
Recommended Name: Contactin-1 precursor  
Size: 1018 amino acids; 113320 Da
Subunit: Monomer. Interacts with CNTNAP1 in cis form. Interacts with NOTCH1 and TNR (By similarity). Binds to the
carbonic-anhydrase like domain of PTPRZ1
2 PDB 3D structures from and Proteopedia for CNTN1:
2EE2 (3D)        3S97 (3D)    
Secondary accessions: A8K0H9 A8K0Y3 Q12861 Q14030 Q7M4P0 Q8N466
Alternative splicing: 3 isoforms:  Q12860-1   Q12860-2   Q12860-3   (Ref.3 (BAF82233) sequence is in conflict in position: 610:K->I)

Explore the universe of human proteins at neXtProt for CNTN1: NX_Q12860

Explore proteomics data for CNTN1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn208, Asn258, Asn338, Asn457, Asn473, Asn494, Asn521, Asn591, Asn933
  • Modification sites at PhosphoSitePlus

  • See CNTN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001242992.1  NP_001242993.1  NP_001834.2  NP_778203.1  

    ENSEMBL proteins: 
     ENSP00000448004   ENSP00000450412   ENSP00000447006   ENSP00000447862   ENSP00000447860  
     ENSP00000448653   ENSP00000449706   ENSP00000261160   ENSP00000449517   ENSP00000325660  
     ENSP00000353213  
    Reactome Protein details: Q12860

    CNTN1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for CNTN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    ENDOLIG: Endogenous ligands
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    Selected InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q12860

    ProtoNet protein and cluster: Q12860

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: CNTN1_HUMAN, Q12860
    Similarity: Belongs to the immunoglobulin superfamily. Contactin family
    Similarity: Contains 4 fibronectin type-III domains
    Similarity: Contains 6 Ig-like C2-type (immunoglobulin-like) domains


    CNTN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CNTN1_HUMAN, Q12860
    Function: Contactins mediate cell surface interactions during nervous system development. Involved in the
    formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and
    myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting
    as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch
    intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion
    of neurons and an inhibition of neurite outgrowth (By similarity)

         Genatlas biochemistry entry for CNTN1:
    contactin,neuronal cell adhesion molecule (Ig superfamily),involved in axon growth,isoforms 1,2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IEA--
    GO:0005515protein binding ----
    GO:0030246carbohydrate binding IEA--
         
    CNTN1 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cntn1):
     behavior/neurological  cellular  growth/size/body  mortality/aging  muscle 
     nervous system  vision/eye 

    CNTN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cntn1tm1Brns for CNTN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNTN1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CNTN1

    miRNA
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    miRTarBase miRNAs that target CNTN1:
    hsa-mir-375 (MIRT019927), hsa-mir-26b-5p (MIRT029798), hsa-mir-130b-3p (MIRT020315), hsa-mir-93-5p (MIRT028146), hsa-mir-124-3p (MIRT022817)

    Block miRNA regulation of human, mouse, rat CNTN1 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate CNTN1:
    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-1279 hsa-miR-548c-3p hsa-miR-3179 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidCNTN1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CNTN1_HUMAN, Q12860: Isoform 1: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side
    CNTN1_HUMAN, Q12860: Isoform 2: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane TAS7959734
    GO:0031225anchored component of membrane IEA--

    CNTN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CNTN1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH10.79
    Signaling by NOTCH0.64
    2L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    Neurofascin interactions0.00
    3Signaling by NOTCH2
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.67
    Activated NOTCH1 Transmits Signal to the Nucleus0.61
    Signaling by NOTCH20.67
    4Signaling by GPCR
    Signal Transduction0.58
    5Notch signaling pathway (KEGG)
    Delta-Notch Signaling Pathway0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for CNTN1
        Notch Signaling Pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CNTN1
        Extrinsic Prothrombin Activation Pathway
    Blood Coagulation Cascade

    2 BioSystems Pathways for CNTN1
        Delta-Notch Signaling Pathway
    Notch signaling pathway


    4 Reactome Pathways for CNTN1
        L1CAM interactions
    NOTCH2 Activation and Transmission of Signal to the Nucleus
    Activated NOTCH1 Transmits Signal to the Nucleus
    Neurofascin interactions


    1 Kegg Pathway  (Kegg details for CNTN1):
        Cell adhesion molecules (CAMs)


    CNTN1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CNTN1: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CNTN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CNTN1 (Q128602, 3 ENSP000003256604) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8260889 I2D: score=2 
    CNTN2Q022463, ENSP000003306334I2D: score=3 STRING: ENSP00000330633
    FYNP062413, ENSP000003576564I2D: score=2 STRING: ENSP00000357656
    NOTCH2Q047213, ENSP000002566464I2D: score=2 STRING: ENSP00000256646
    PTPRBP234673, ENSP000003349284I2D: score=2 STRING: ENSP00000334928
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007219Notch signaling pathway TAS--
    GO:0007411axon guidance TAS--
    GO:0010628positive regulation of gene expression IEA--
    GO:0010765positive regulation of sodium ion transport IEA--

    CNTN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CNTN1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CNTN1 gene (4 alternative transcripts): 
    NM_001256063.1  NM_001256064.1  NM_001843.3  NM_175038.2  

    Unigene Cluster for CNTN1:

    Contactin 1
    Hs.143434  [show with all ESTs]
    Unigene Representative Sequence: NM_001843
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000547702(uc009zjy.2) ENST00000551424 ENST00000551295(uc001rmm.1 uc001rmn.1)
    ENST00000548005 ENST00000552248 ENST00000547849(uc001rmo.3) ENST00000552913
    ENST00000348761 ENST00000550305 ENST00000548481 ENST00000347616 ENST00000360099


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    7 qRT-PCR Assays for microRNAs that regulate CNTN1:
    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-1279 hsa-miR-548c-3p hsa-miR-3179 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidCNTN1 3' UTR sequence
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    Additional mRNA sequence: 

    AK289544.1 AK289698.1 BC036569.2 BX648591.1 U07819.1 U07820.1 Z21488.1 

    6 DOTS entries:

    DT.113389  DT.95211083  DT.95166909  DT.100777056  DT.95360529  DT.121203544 

    Selected AceView cDNA sequences (see all 142):

    U07820 F07263 AW613973 AL697712 CR601551 AA447116 AL118970 BM551641 
    NM_001843 N54736 AI636502 BU947720 AA331441 AI656062 U07819 BE677621 
    AA334975 F01427 H19315 BQ025831 R92691 BM717031 CD722522 BU753243 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CNTN1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b
    SP1:              -                                                                             -                                                               
    SP2:                                                                                            -                                                               
    SP3:                                                                                                                                                            


    ECgene alternative splicing isoforms for CNTN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CNTN1 expression in normal human tissues (normalized intensities)      CNTN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTCATATT
    CNTN1 Expression
    About this image


    CNTN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Oligodendrocyte Precursor Cells Forebrain White Matter
             Thalamus
             Oligodendrocyte-like cells
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
    CNTN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNTN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.143434

    UniProtKB/Swiss-Prot: CNTN1_HUMAN, Q12860
    Tissue specificity: Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels
    of expression in lung, pancreas, kidney and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including CNTN1: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CNTN1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cntn11 , 5 contactin 11, 5 86.08(n)1
    95.38(a)1
      15 (46.39 cM)5
    128051  NM_001159647.11  NP_001153119.11 
     920511655 
    chicken
    (Gallus gallus)
    Aves CNTN11 contactin 1 76.31(n)
    77.7(a)
      417786  NM_001004381.3  NP_001004381.3 
    lizard
    (Anolis carolinensis)
    Reptilia CNTN16
    contactin 1
    65(a)
    1 ↔ 1
    5(55975063-56163649)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB015205.12   -- 74.6(n)    AB015205.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cntn12 contactin 1 72.88(n)   353150  AY138255.1 


    ENSEMBL Gene Tree for CNTN1 (if available)
    TreeFam Gene Tree for CNTN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNTN1 gene
    CHL12  NEO12  ROBO12  CNTN52  CNTN42  IGDCC42  NRCAM2  L1CAM2  
    ROBO22  CNTN22  CNTN62  NFASC2  CNTN32  DCC2  PRTG2  IGDCC32  
    ROBO32  
    6 SIMAP similar genes for CNTN1 using alignment to 6 protein entries:     CNTN1_HUMAN (see all proteins):
    CNTN3    DKFZp781D102    CNTN5    CNTN2    CNTN4    CNTN6

    CNTN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CNTN1 (see all 7980)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0355064
    A colorectal cancer sample4--see VAR_0355062 P H mis40--------
    rs1455106001,2
    C,Funtested141175700(+) GAAATA/G/TAATCC 8 I M mis11NA 4542
    rs355708621,2
    C--38118750(+) TTTTT-/TACGGA 2 -- int11Minor allele frequency- T:0.00NA 2
    rs1114103211,2
    C--38120261(+) CAGAT-/A/AA  
            
    AAAAA
    2 -- int11CSA 2
    rs123110301,2
    --38127582(+) cacacA/CcCCCT 2 -- int10--------
    rs1463960391,2
    C--38141420(+) AAAAC-/AAAA  
            
    AAAGA
    2 -- int10--------
    rs2004614081,2
    --38147336(+) CATAA-/TGTATATT 2 -- int10--------
    rs2011415481,2
    --38147342(+) GTATA-/TT    
       TTCTC
    TAAAA
    2 -- int10--------
    rs1403345921,2
    C--38147703(+) GGGGC-/AAAAAA 2 -- int10--------
    rs122272651,2
    H--38170139(+) TTTATT/ATTTTT 2 -- int14Minor allele frequency- A:0.00NS EA 414

    HapMap Linkage Disequilibrium report for CNTN1 (41086244 - 41336244 bp, first 250kb of CNTN1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CNTN1 (see all 30):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv995948CNV Deletion20482838
    esv1646892CNV Deletion17803354
    esv2745803CNV Deletion23290073
    esv2665856CNV Deletion23128226
    esv2498446CNV Deletion19546169
    esv997554CNV Deletion20482838
    esv2745805CNV Deletion23290073
    esv2745804CNV Deletion23290073
    esv1308804CNV Deletion17803354
    esv5231CNV Deletion18987735

    Human Gene Mutation Database (HGMD): CNTN1
    Locus Specific Mutation Databases (LSDB): CNTN1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CNTN1
    DNA2.0 Custom Variant and Variant Library Synthesis for CNTN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600016   
    OMIM disorders: 612540  
    UniProtKB/Swiss-Prot: CNTN1_HUMAN, Q12860
  • Compton-North congenital myopathy (CNCM) [MIM:612540]: Familial lethal form of congenital onset muscle
    weakness, inherited in an autosomal-recessive fashion and characterized by a secondary loss of beta2-syntrophin
    and alpha-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for CNTN1 (see all 26):    About MalaCards
    compton-north congenital myopathy    myopathy congenital    myopathy    encephalitis
    esophageal cancer    labyrinthitis    lung adenocarcinoma    retinoblastoma
    oral squamous cell carcinoma    ataxia    choroiditis    bipolar disorder
    ischemia    breast and colorectal cancer    multiple sclerosis    esophagitis
    atherosclerosis    neuroblastoma    neuronitis    squamous cell carcinoma

    1 disease from the University of Copenhagen DISEASES database for CNTN1:
    Encephalitis

    CNTN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for CNTN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastasis 0 5 16510572 (5)
    tumors 0 4 16510572 (3)
    cancer 0 1 16530705 (1)

    Genetic Association Database (GAD): CNTN1
    Human Genome Epidemiology (HuGE) Navigator: CNTN1 (4 documents)

    Export disorders for CNTN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CNTN1 gene, integrated from 10 sources (see all 66):
    (articles sorted by number of sources associating them with CNTN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and in situ localization of the human contactin gene (CNTN1) on chromosome 12q11-q12. (PubMed id 7959734)1, 2, 3, 9 Berglund E.O. and Ranscht B. (Genomics 1994)
    2. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. (PubMed id 19026398)1, 2, 9 Compton A.G....North K.N. (Am. J. Hum. Genet. 2008)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    5. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 2008)
    6. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily. (PubMed id 8586965)1, 3 Yoshihara Y....Mori K. (J. Neurobiol. 1995)
    9. Identification and characterization of the human cell adhesion molecule contactin. (PubMed id 8164510)1, 2 Reid R.A.... Hemperly J.J. (Brain Res. Mol. Brain Res. 1994)
    10. Knockdown of contactin-1 expression suppresses invasion and metastasis of lung adenocarcinoma. (PubMed id 16510572)1, 9 Su J.L....Kuo M.L. (Cancer Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1272 HGNC: 2171 AceView: CNTN1 Ensembl:ENSG00000018236 euGenes: HUgn1272
    ECgene: CNTN1 Kegg: 1272 H-InvDB: CNTN1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CNTN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CNTN1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CNTN1 gene:
    Search GeneIP for patents involving CNTN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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