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    CNTN1 contactin 1 [ Homo sapiens ]

    Gene ID: 1272, updated on 12-May-2012
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    Summary

    Official Symbol
    CNTN1provided by HGNC
    Official Full Name
    contactin 1provided by HGNC
    Primary source
    HGNC:2171
    See related
    Ensembl:ENSG00000018236; HPRD:07189; MIM:600016; Vega:OTTHUMG00000169362
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    F3; GP135
    Summary
    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]
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    Genomic context

    Location :
    12q11-q12
    Sequence :
    Chromosome: 12; NC_000012.11 (41086358..41464094)
    See CNTN1 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene mucin 19, oligomeric Neighboring gene mucin 19, oligomeric Neighboring gene methionyl aminopeptidase 1 pseudogene Neighboring gene PDZ domain containing ring finger 4 Neighboring gene uncharacterized LOC100506577 Neighboring gene tetratricopeptide repeat domain 5 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Protein phosphatase 1α interacting proteins in the human brain. Esteves SL, et al. OMICS, 2012 Jan-Feb. PMID 22321011.
    2. A complex between contactin-1 and the protein tyrosine phosphatase PTPRZ controls the development of oligodendrocyte precursor cells. Lamprianou S, et al. Proc Natl Acad Sci U S A, 2011 Oct 18. PMID 21969550.
    3. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    4. Effect of lentivirus-mediated shRNA targeting VEGFR-3 on proliferation, apoptosis and invasion of gastric cancer cells. Qin XJ, et al. Int J Mol Med, 2011 Nov. PMID 21805024.
    5. VEGF-C promotes the development of esophageal cancer via regulating CNTN-1 expression. Liu P, et al. Cytokine, 2011 Jul. PMID 21482472.

    See all (40) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data revealed that knockdown of VEGFR-3 with the shRNA lentiviral vector resulted in down-regulation of the downstream neural cell adhesion molecule contactin-1 (CNTN-1).
      Title: Effect of lentivirus-mediated shRNA targeting VEGFR-3 on proliferation, apoptosis and invasion of gastric cancer cells.
    2. report the cocrystal structure of the carbonic anhydrase-like domain of PTPRZ bound to tandem Ig repeats of CNTN1 and binding assays to show that PTPRZ binds specifically to CNTN1 expressed at the surface of oligodendrocyte precursor cells
      Title: A complex between contactin-1 and the protein tyrosine phosphatase PTPRZ controls the development of oligodendrocyte precursor cells.
    3. VEGF-C mediated biological function through transcription of CNTN-1, which is implicated in tumor invasion and metastasis.
      Title: VEGF-C promotes the development of esophageal cancer via regulating CNTN-1 expression.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: 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.
    6. Mutations in CNTN1, a neural adhesion molecule and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
      Title: Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
    7. Contactin-1 is proposed to function importantly in the invasion and metastasis of lung adenocarcinoma cells via RhoA-mediated mechanisms.
      Title: Knockdown of contactin-1 expression suppresses invasion and metastasis of lung adenocarcinoma.
    8. The repulsive properties of contactin may be a key factor in glioma disaggregation, and may contribute to the diffuse infiltration pattern characteristic of glioma cells in human brain.
      Title: Contactin is expressed in human astrocytic gliomas and mediates repulsive effects.
    9. F3 acts as a functional ligand for Notch during oligodendrocyte maturation.
      Title: F3/contactin acts as a functional ligand for Notch during oligodendrocyte maturation.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    A genome-wide association study identifies protein quantitative trait loci (pQTLs).

    Myopathy, congenital, Compton-North

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q12860 Q12860 CNTN1    HPRD  PubMed  
    Q12860 Q02246 CNTN2    HPRD  PubMed  
    Q12860 P06241 FYN    HPRD  PubMed  
    Q12860 P32004 L1CAM    HPRD  PubMed  
    Q12860 P46531 NOTCH1    HPRD  PubMed  
    Q12860 Q04721 NOTCH2    HPRD  PubMed  
    Q12860 P04156 PRNP    HPRD  PubMed  
    Q12860 P23467 PTPRB    HPRD  PubMed  
    Q12860 P51168 SCNN1B    HPRD  PubMed  
    Q12860 P24821 TNC    HPRD  PubMed  
    Q12860 Q92752 TNR    HPRD  PubMed  
    BioGRID:107672 BioGRID:106785 ANK3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107672 BioGRID:112763 CNTN2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107672 BioGRID:111583 MAPK6    BioGRID  PubMed Two-hybrid 
    BioGRID:107672 BioGRID:110913 NOTCH1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107672 BioGRID:110915 NOTCH2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107672 BioGRID:111493 PPP1CA    BioGRID  PubMed Two-hybrid 
    BioGRID:107672 BioGRID:111751 PTPRB    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107672 BioGRID:111767 PTPRZ1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107672 BioGRID:112229 SCN1B    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystem (from REACTOME)
      Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystemMature NOTCH1 heterodimer on the cell surface is activated by one of its ligands: DLL1 (Cordle et al. 2008, Jarriault et al. 1998), DLL4 (Benedito et al. 2009), JAG1 (Li et al. 1998, Benedito et al. ...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • L1CAM interactions, organism-specific biosystem (from REACTOME)
      L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
    • Neurofascin interactions, organism-specific biosystem (from REACTOME)
      Neurofascin interactions, organism-specific biosystemNeurofascin is an L1 family immunoglobulin cell adhesion molecule involved in axon subcellular targeting and synapse formation during neural development. There are a range of different isoforms ident...
    • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Notch signaling pathway, organism-specific biosystem
      Notch signaling pathway
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    axon guidance TAS
    Traceable Author Statement
    more info
    		  
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    anchored to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane fraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    contactin-1
    Names
    contactin-1
    glycoprotein gP135
    neural cell surface protein F3
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012058.2 RefSeqGene

      Range
      4887..384857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256063.1 → NP_001242992.1  contactin-1 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several 3' exons and includes an alternate 3' terminal exon, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 3 and 4 encode the same isoform 3.
      Source sequence(s)
      AC015540, AK289698, BC036569, DQ442054
      UniProtKB/Swiss-Prot
      Q12860
      Conserved Domains (7) summary
      cd04970
      Location:520 – 602
      Blast Score: 413
      Ig6_Contactin_like; Sixth Ig domain of contactin
      cd05727
      Location:134 – 230
      Blast Score: 417
      Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
      cd05849
      Location:40 – 132
      Blast Score: 495
      Ig1_Contactin-1; First Ig domain of contactin-1
      cd05851
      Location:241 – 328
      Blast Score: 473
      Ig3_Contactin-1; Third Ig domain of contactin-1
      cd05852
      Location:429 – 501
      Blast Score: 391
      Ig5_Contactin-1; Fifth Ig domain of contactin-1
      pfam07679
      Location:413 – 501
      Blast Score: 167
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:332 – 408
      Blast Score: 260
      Ig; Immunoglobulin domain

    2. NM_001256064.1 → NP_001242993.1  contactin-1 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks several 3' exons and includes an alternate 3' terminal exon, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 3 and 4 encode the same isoform 3.
      Source sequence(s)
      AC015540, AK289544, DA215712
      UniProtKB/Swiss-Prot
      Q12860
      Conserved Domains (7) summary
      cd04970
      Location:520 – 602
      Blast Score: 413
      Ig6_Contactin_like; Sixth Ig domain of contactin
      cd05727
      Location:134 – 230
      Blast Score: 417
      Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
      cd05849
      Location:40 – 132
      Blast Score: 495
      Ig1_Contactin-1; First Ig domain of contactin-1
      cd05851
      Location:241 – 328
      Blast Score: 473
      Ig3_Contactin-1; Third Ig domain of contactin-1
      cd05852
      Location:429 – 501
      Blast Score: 391
      Ig5_Contactin-1; Fifth Ig domain of contactin-1
      pfam07679
      Location:413 – 501
      Blast Score: 167
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:332 – 408
      Blast Score: 260
      Ig; Immunoglobulin domain

    3. NM_001843.3 → NP_001834.2  contactin-1 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI473107, AK289698, BM717031, BX648591, BY799936, DQ442054, U07819, Z21488
      Consensus CDS
      CCDS8737.1
      UniProtKB/Swiss-Prot
      Q12860
      Related
      ENSP00000447006, OTTHUMP00000240894, ENST00000551295, OTTHUMT00000403692
      Conserved Domains (9) summary
      cd00063
      Location:610 – 697
      Blast Score: 154
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd04970
      Location:520 – 601
      Blast Score: 401
      Ig6_Contactin_like; Sixth Ig domain of contactin
      cd05727
      Location:134 – 230
      Blast Score: 418
      Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
      cd05849
      Location:40 – 132
      Blast Score: 495
      Ig1_Contactin-1; First Ig domain of contactin-1
      cd05851
      Location:241 – 328
      Blast Score: 472
      Ig3_Contactin-1; Third Ig domain of contactin-1
      cd05852
      Location:429 – 501
      Blast Score: 391
      Ig5_Contactin-1; Fifth Ig domain of contactin-1
      pfam07679
      Location:413 – 501
      Blast Score: 164
      I-set; Immunoglobulin I-set domain
      cl00065
      Location:905 – 985
      Blast Score: 91
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cl11960
      Location:332 – 408
      Blast Score: 258
      Ig; Immunoglobulin domain

    4. NM_175038.2 → NP_778203.1  contactin-1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon, compared to variant 1. The resulting isoform (2) lacks an internal segment in the N-terminal region, compared to isoform 1.
      Source sequence(s)
      AI473107, BC036569, BM717031, BX648591, BY799936, U07820
      Consensus CDS
      CCDS8738.1
      UniProtKB/Swiss-Prot
      Q12860
      Related
      ENSP00000261160, OTTHUMP00000240899, ENST00000348761, OTTHUMT00000403697
      Conserved Domains (9) summary
      cd00063
      Location:599 – 686
      Blast Score: 154
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd04970
      Location:509 – 590
      Blast Score: 401
      Ig6_Contactin_like; Sixth Ig domain of contactin
      cd05727
      Location:123 – 219
      Blast Score: 419
      Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
      cd05849
      Location:29 – 121
      Blast Score: 495
      Ig1_Contactin-1; First Ig domain of contactin-1
      cd05851
      Location:230 – 317
      Blast Score: 472
      Ig3_Contactin-1; Third Ig domain of contactin-1
      cd05852
      Location:418 – 490
      Blast Score: 391
      Ig5_Contactin-1; Fifth Ig domain of contactin-1
      pfam07679
      Location:402 – 490
      Blast Score: 164
      I-set; Immunoglobulin I-set domain
      cl00065
      Location:894 – 974
      Blast Score: 92
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cl11960
      Location:321 – 397
      Blast Score: 258
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      41086358..41464094
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      38113051..38490391
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC015540.9 None
    genomic AC016144.13 (62718..178452) None
    genomic AC024900.20 (82789..171766) None
    genomic AC074030.17 None
    genomic AC129108.1 None
    genomic CH471111.1 EAW57822.1
      EAW57823.1
      EAW57824.1
    mRNA AI473107.1 None
    mRNA AK289544.1 BAF82233.1
    mRNA AK289698.1 BAF82387.1
    mRNA BC036569.2 AAH36569.1
    mRNA BM717031.1 None
    mRNA BX648591.1 None
    mRNA BY799936.2 None
    mRNA DA215712.1 None
    mRNA DQ442054.1 None
    mRNA U07819.1 AAA67920.1
    mRNA U07820.1 AAA67921.1
    mRNA Z21488.1 CAA79696.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12860.1 GenPept UniProtKB/Swiss-Prot:Q12860
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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