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    Cntn1 contactin 1 [ Mus musculus (house mouse) ]

    Gene ID: 12805, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cntn1provided by MGI
    Official Full Name
    contactin 1provided by MGI
    Primary source
    MGI:MGI:105980
    See related
    Ensembl:ENSMUSG00000055022 AllianceGenome:MGI:105980
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    usl; CNTN; F3cam
    Summary
    Enables carbohydrate binding activity. Involved in central nervous system myelin formation and locomotory behavior. Acts upstream of or within several processes, including nervous system development; positive regulation of neuron projection development; and positive regulation of sodium ion transport. Located in myelin sheath. Is active in glutamatergic synapse; postsynaptic membrane; and presynaptic membrane. Is expressed in several structures, including alimentary system; nervous system; respiratory system; sensory organ; and urinary system. Used to study Compton-North congenital myopathy. Human ortholog(s) of this gene implicated in Compton-North congenital myopathy. Orthologous to human CNTN1 (contactin 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 20.9), cortex adult (RPKM 17.7) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Cntn1 in Genome Data Viewer
    Location:
    15 E3; 15 46.39 cM
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (91949034..92239834)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (92051152..92341967)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene NADH dehydrogenase (ubiquinone) Fe-S protein 2 pseudogene Neighboring gene leucine-rich repeat LGI family, member 1 pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:91964733-91964842 Neighboring gene STARR-seq mESC enhancer starr_39509 Neighboring gene predicted gene, 36901 Neighboring gene STARR-positive B cell enhancer mm9_chr15:92171487-92171788 Neighboring gene STARR-seq mESC enhancer starr_39511 Neighboring gene predicted gene, 26760 Neighboring gene predicted gene, 53194 Neighboring gene PDZ domain containing RING finger 4 Neighboring gene STARR-seq mESC enhancer starr_39512 Neighboring gene predicted gene, 52207

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables carbohydrate binding PubMed 
    enables cell-cell adhesion mediator activity  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway  
    involved_in axon guidance  
    involved_in brain development  
    involved_in cell adhesion  
    involved_in cell-cell adhesion  
    involved_in central nervous system myelin formation PubMed 
    acts_upstream_of_or_within cerebellum development PubMed 
    acts_upstream_of gene expression PubMed 
    involved_in locomotory behavior PubMed 
    involved_in myelination PubMed 
    involved_in myelination PubMed 
    acts_upstream_of_or_within neuron projection development PubMed 
    acts_upstream_of_or_within positive regulation of gene expression PubMed 
    acts_upstream_of_or_within positive regulation of neuron projection development PubMed 
    involved_in positive regulation of peptidyl-tyrosine phosphorylation  
    acts_upstream_of_or_within positive regulation of sodium ion transport PubMed 
    Component Evidence Code Pubs
    is_active_in axon  
    is_active_in glutamatergic synapse PubMed 
    located_in myelin sheath PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane  
    is_active_in postsynaptic membrane PubMed 
    is_active_in presynaptic membrane PubMed 
    located_in side of membrane  
    is_active_in synapse PubMed 

    General protein information

    Preferred Names
    contactin-1
    Names
    neural cell surface protein F3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001159647.2NP_001153119.1  contactin-1 precursor

      See identical proteins and their annotated locations for NP_001153119.1

      Status: VALIDATED

      Source sequence(s)
      AC100736, AC125460
      Consensus CDS
      CCDS27763.1
      UniProtKB/Swiss-Prot
      P12960, Q6NXV7, Q8BR42, Q8C6A0
      Related
      ENSMUSP00000067842.6, ENSMUST00000068378.6
      Conserved Domains (9) summary
      cd05851
      Location:241328
      IgI_3_Contactin-1; Third immunoglobulin (Ig) domain of contactin-1; member of the I-set of Ig superfamily (IgSF) domains
      cd00063
      Location:612699
      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 ...
      pfam00041
      Location:813895
      fn3; Fibronectin type III domain
      cd00096
      Location:332335
      Ig; Ig strand A [structural motif]
      cd04970
      Location:503603
      Ig6_Contactin; Sixth immunoglobulin (Ig) domain of contactin
      cd05727
      Location:142230
      Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2, and similar domains
      cd05849
      Location:40134
      IgI_1_Contactin-1; First immunoglobulin (Ig) domain of contactin-1; member of the I-set of Ig superfamily domains
      cd05852
      Location:413501
      Ig5_Contactin-1; Fifth immunoglobulin (Ig) domain of contactin-1
      cl11960
      Location:332408
      Ig; Immunoglobulin domain
    2. NM_001159648.2NP_001153120.1  contactin-1 precursor

      See identical proteins and their annotated locations for NP_001153120.1

      Status: VALIDATED

      Source sequence(s)
      AC100736, AC125460, AC162863
      Consensus CDS
      CCDS27763.1
      UniProtKB/Swiss-Prot
      P12960, Q6NXV7, Q8BR42, Q8C6A0
      Related
      ENSMUSP00000133063.2, ENSMUST00000169825.8
      Conserved Domains (9) summary
      cd05851
      Location:241328
      IgI_3_Contactin-1; Third immunoglobulin (Ig) domain of contactin-1; member of the I-set of Ig superfamily (IgSF) domains
      cd00063
      Location:612699
      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 ...
      pfam00041
      Location:813895
      fn3; Fibronectin type III domain
      cd00096
      Location:332335
      Ig; Ig strand A [structural motif]
      cd04970
      Location:503603
      Ig6_Contactin; Sixth immunoglobulin (Ig) domain of contactin
      cd05727
      Location:142230
      Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2, and similar domains
      cd05849
      Location:40134
      IgI_1_Contactin-1; First immunoglobulin (Ig) domain of contactin-1; member of the I-set of Ig superfamily domains
      cd05852
      Location:413501
      Ig5_Contactin-1; Fifth immunoglobulin (Ig) domain of contactin-1
      cl11960
      Location:332408
      Ig; Immunoglobulin domain
    3. NM_001358051.2NP_001344980.1  contactin-1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC100736, AC125460, AC162863
      Consensus CDS
      CCDS27763.1
      UniProtKB/Swiss-Prot
      P12960, Q6NXV7, Q8BR42, Q8C6A0
      Conserved Domains (9) summary
      cd05851
      Location:241328
      IgI_3_Contactin-1; Third immunoglobulin (Ig) domain of contactin-1; member of the I-set of Ig superfamily (IgSF) domains
      cd00063
      Location:612699
      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 ...
      pfam00041
      Location:813895
      fn3; Fibronectin type III domain
      cd00096
      Location:332335
      Ig; Ig strand A [structural motif]
      cd04970
      Location:503603
      Ig6_Contactin; Sixth immunoglobulin (Ig) domain of contactin
      cd05727
      Location:142230
      Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2, and similar domains
      cd05849
      Location:40134
      IgI_1_Contactin-1; First immunoglobulin (Ig) domain of contactin-1; member of the I-set of Ig superfamily domains
      cd05852
      Location:413501
      Ig5_Contactin-1; Fifth immunoglobulin (Ig) domain of contactin-1
      cl11960
      Location:332408
      Ig; Immunoglobulin domain
    4. NM_001411171.1NP_001398100.1  contactin-1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC100736, AC125460, AC162863
      UniProtKB/Swiss-Prot
      P12960, Q6NXV7, Q8BR42, Q8C6A0
    5. NM_007727.3NP_031753.1  contactin-1 precursor

      See identical proteins and their annotated locations for NP_031753.1

      Status: VALIDATED

      Source sequence(s)
      AC100736, AC125460, AC162863
      Consensus CDS
      CCDS27763.1
      UniProtKB/Swiss-Prot
      P12960, Q6NXV7, Q8BR42, Q8C6A0
      Related
      ENSMUSP00000000109.5, ENSMUST00000000109.11
      Conserved Domains (9) summary
      cd05851
      Location:241328
      IgI_3_Contactin-1; Third immunoglobulin (Ig) domain of contactin-1; member of the I-set of Ig superfamily (IgSF) domains
      cd00063
      Location:612699
      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 ...
      pfam00041
      Location:813895
      fn3; Fibronectin type III domain
      cd00096
      Location:332335
      Ig; Ig strand A [structural motif]
      cd04970
      Location:503603
      Ig6_Contactin; Sixth immunoglobulin (Ig) domain of contactin
      cd05727
      Location:142230
      Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2, and similar domains
      cd05849
      Location:40134
      IgI_1_Contactin-1; First immunoglobulin (Ig) domain of contactin-1; member of the I-set of Ig superfamily domains
      cd05852
      Location:413501
      Ig5_Contactin-1; Fifth immunoglobulin (Ig) domain of contactin-1
      cl11960
      Location:332408
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      91949034..92239834
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006520383.5XP_006520446.1  contactin-1 isoform X2

      Conserved Domains (6) summary
      cd05727
      Location:134230
      Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
      cd05849
      Location:40132
      Ig1_Contactin-1; First immunoglobulin (Ig) domain of contactin-1
      cd05851
      Location:241328
      Ig3_Contactin-1; Third immunoglobulin (Ig) domain of contactin-1
      cd05852
      Location:429501
      Ig5_Contactin-1; Fifth immunoglobulin (Ig) domain of contactin-1
      cd04970
      Location:520604
      Ig6_Contactin; Sixth immunoglobulin (Ig) domain of contactin
      cl11960
      Location:332408
      Ig; Immunoglobulin domain
    2. XM_036159111.1XP_036015004.1  contactin-1 isoform X1

      UniProtKB/Swiss-Prot
      P12960, Q6NXV7, Q8BR42, Q8C6A0
      Conserved Domains (9) summary
      cd05851
      Location:241328
      IgI_3_Contactin-1; Third immunoglobulin (Ig) domain of contactin-1; member of the I-set of Ig superfamily (IgSF) domains
      cd00063
      Location:612699
      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 ...
      pfam00041
      Location:813895
      fn3; Fibronectin type III domain
      cd00096
      Location:332335
      Ig; Ig strand A [structural motif]
      cd04970
      Location:503603
      Ig6_Contactin; Sixth immunoglobulin (Ig) domain of contactin
      cd05727
      Location:142230
      Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2, and similar domains
      cd05849
      Location:40134
      IgI_1_Contactin-1; First immunoglobulin (Ig) domain of contactin-1; member of the I-set of Ig superfamily domains
      cd05852
      Location:413501
      Ig5_Contactin-1; Fifth immunoglobulin (Ig) domain of contactin-1
      cl11960
      Location:332408
      Ig; Immunoglobulin domain
    3. XM_017316423.3XP_017171912.1  contactin-1 isoform X2

      Conserved Domains (6) summary
      cd05727
      Location:134230
      Ig2_Contactin-2-like; Second Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins
      cd05849
      Location:40132
      Ig1_Contactin-1; First immunoglobulin (Ig) domain of contactin-1
      cd05851
      Location:241328
      Ig3_Contactin-1; Third immunoglobulin (Ig) domain of contactin-1
      cd05852
      Location:429501
      Ig5_Contactin-1; Fifth immunoglobulin (Ig) domain of contactin-1
      cd04970
      Location:520604
      Ig6_Contactin; Sixth immunoglobulin (Ig) domain of contactin
      cl11960
      Location:332408
      Ig; Immunoglobulin domain
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