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    CNTNAP1 contactin associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 8506, updated on 17-Jun-2019

    Summary

    Official Symbol
    CNTNAP1provided by HGNC
    Official Full Name
    contactin associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:8011
    See related
    Ensembl:ENSG00000108797 MIM:602346
    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
    CHN3; P190; CASPR; NRXN4; CNTNAP
    Summary
    The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
    Expression
    Broad expression in brain (RPKM 18.9), endometrium (RPKM 5.5) and 17 other tissues See more
    Orthologs

    Genomic context

    See CNTNAP1 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (42679767..42699993)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40834632..40852011)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tubulin gamma 2 Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H3 Neighboring gene C-C motif chemokine receptor 10 Neighboring gene enhancer of zeste 1 polycomb repressive complex 2 subunit Neighboring gene microRNA 6780a Neighboring gene ribosomal protein L34 pseudogene 30

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease Compare labs
    Congenital hypomyelinating neuropathy 3
    MedGen: CN257484 OMIM: 618186 GeneReviews: Not available
    not available
    Lethal congenital contracture syndrome 7
    MedGen: C4225386 OMIM: 616286 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with contactin associated protein 1 (CNTNAP1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • 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...
    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    SH3/SH2 adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    myelination in peripheral nervous system IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular process controlling posture IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron projection morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuronal action potential propagation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    paranodal junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    paranodal junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to juxtaparanode region of axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to paranode region of axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    paranodal junction IEA
    Inferred from Electronic Annotation
    more info
     
    paranode region of axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    presynaptic active zone membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    contactin-associated protein 1
    Names
    caspr1
    neurexin IV
    neurexin-4

    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_042091.1 RefSeqGene

      Range
      5001..22380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003632.3NP_003623.1  contactin-associated protein 1 precursor

      See identical proteins and their annotated locations for NP_003623.1

      Status: REVIEWED

      Source sequence(s)
      AC100793, BC171797, BU729460, U87223
      Consensus CDS
      CCDS11436.1
      UniProtKB/Swiss-Prot
      P78357
      Related
      ENSP00000264638.3, ENST00000264638.9
      Conserved Domains (6) summary
      smart00294
      Location:13041322
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:10831218
      LamG; Laminin G domain
      cd00057
      Location:36167
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd00110
      Location:175330
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      cl00085
      Location:584658
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
      pfam00008
      Location:544575
      EGF; EGF-like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      42679767..42699993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451011.1XP_024306779.1  contactin-associated protein 1 isoform X1

      Conserved Domains (6) summary
      smart00294
      Location:13041322
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:10831218
      LamG; Laminin G domain
      cd00057
      Location:36167
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd00110
      Location:175330
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      cl00085
      Location:584658
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
      pfam00008
      Location:544575
      EGF; EGF-like domain
    2. XM_017025238.1XP_016880727.1  contactin-associated protein 1 isoform X1

      UniProtKB/Swiss-Prot
      P78357
      Conserved Domains (6) summary
      smart00294
      Location:13041322
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:10831218
      LamG; Laminin G domain
      cd00057
      Location:36167
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd00110
      Location:175330
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      cl00085
      Location:584658
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
      pfam00008
      Location:544575
      EGF; EGF-like domain
    3. XM_005257748.4XP_005257805.1  contactin-associated protein 1 isoform X2

      See identical proteins and their annotated locations for XP_005257805.1

      Conserved Domains (7) summary
      smart00294
      Location:12281246
      4.1m; putative band 4.1 homologues' binding motif
      smart00231
      Location:192
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      smart00282
      Location:10071142
      LamG; Laminin G domain
      cd00057
      Location:191
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd00110
      Location:99254
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam00008
      Location:468499
      EGF; EGF-like domain
      cl00085
      Location:508582
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
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