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    Dag1 dystroglycan 1 [ Mus musculus (house mouse) ]

    Gene ID: 13138, updated on 23-Oct-2018

    Summary

    Official Symbol
    Dag1provided by MGI
    Official Full Name
    dystroglycan 1provided by MGI
    Primary source
    MGI:MGI:101864
    See related
    Ensembl:ENSMUSG00000039952 Vega:OTTMUSG00000050793
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    DG; Dp71; Dp427; D9Wsu13e
    Summary
    This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. A complete lack of the encoded protein in mice results in embryonic lethality due to the disorganization of Reichert's membrane. Chimeric mice deficient in the encoded protein overcome embryonic lethality but develop a progressive muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]
    Expression
    Ubiquitous expression in lung adult (RPKM 57.8), heart adult (RPKM 42.9) and 28 other tissues See more
    Orthologs

    Genomic context

    See Dag1 in Genome Data Viewer
    Location:
    9 F1; 9 59.08 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (108204861..108263958, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (108108289..108166067, complement)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 46132 Neighboring gene bassoon Neighboring gene RIKEN cDNA 4930447F24 gene Neighboring gene nicolin 1 Neighboring gene aminomethyltransferase

    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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    SH2 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    actin binding ISO
    Inferred from Sequence Orthology
    more info
     
    alpha-actinin binding ISO
    Inferred from Sequence Orthology
    more info
     
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    dystroglycan binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    laminin binding ISO
    Inferred from Sequence Orthology
    more info
     
    laminin-1 binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of muscle ISO
    Inferred from Sequence Orthology
    more info
     
    tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    vinculin binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    Schwann cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    basement membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    branching involved in salivary gland morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium-dependent cell-matrix adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to mechanical stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    commissural neuron axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoskeletal anchoring at plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    epithelial tube branching involved in lung morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane protein ectodomain proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    microtubule anchoring ISO
    Inferred from Sequence Orthology
    more info
     
    modulation by virus of host morphology or physiology ISO
    Inferred from Sequence Orthology
    more info
     
    morphogenesis of an epithelial sheet IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    myelination in peripheral nervous system IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of MAPK cascade ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of protein kinase B signaling ISO
    Inferred from Sequence Orthology
    more info
     
    nerve maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of basement membrane assembly involved in embryonic body morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of cell-matrix adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of myelination ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of oligodendrocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of protein kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of epithelial to mesenchymal transition ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of gastrulation ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of synapse organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of synapse organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retrograde trans-synaptic signaling by trans-synaptic protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    retrograde trans-synaptic signaling by trans-synaptic protein complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    GABA-ergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GABA-ergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    basement membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basement membrane ISO
    Inferred from Sequence Orthology
    more info
     
    basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell adherens junction ISO
    Inferred from Sequence Orthology
    more info
     
    cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contractile ring ISO
    Inferred from Sequence Orthology
    more info
     
    costamere ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    dystroglycan complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dystroglycan complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dystrophin-associated glycoprotein complex ISO
    Inferred from Sequence Orthology
    more info
     
    external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space HDA PubMed 
    extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    filopodium ISO
    Inferred from Sequence Orthology
    more info
     
    focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane ISO
    Inferred from Sequence Orthology
    more info
     
    lamellipodium ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    node of Ranvier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear periphery ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane raft ISO
    Inferred from Sequence Orthology
    more info
     
    postsynaptic cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcolemma ISO
    Inferred from Sequence Orthology
    more info
     
    synapse ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    dystroglycan
    Names
    dystrophin associated glycoprotein 1

    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.

    mRNA and Protein(s)

    1. NM_001276481.1NP_001263410.1  dystroglycan preproprotein

      See identical proteins and their annotated locations for NP_001263410.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      AC168217, AK038702, AV085570, CA327718, CB289895, U43512
      Consensus CDS
      CCDS23518.1
      UniProtKB/Swiss-Prot
      Q62165
      UniProtKB/TrEMBL
      Q544G5
      Conserved Domains (3) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      cd11305
      Location:180302
      alpha_DG_C; C-terminal domain of alpha dystroglycan
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
    2. NM_001276482.1NP_001263411.1  dystroglycan preproprotein

      See identical proteins and their annotated locations for NP_001263411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      AC168217, AK038702, AV085570, CB289895, CD578569, U43512
      Consensus CDS
      CCDS23518.1
      UniProtKB/Swiss-Prot
      Q62165
      UniProtKB/TrEMBL
      Q544G5
      Related
      ENSMUSP00000079294.2, OTTMUSP00000069232, ENSMUST00000080435.8, OTTMUST00000128730
      Conserved Domains (3) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      cd11305
      Location:180302
      alpha_DG_C; C-terminal domain of alpha dystroglycan
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
    3. NM_001276485.1NP_001263414.1  dystroglycan preproprotein

      See identical proteins and their annotated locations for NP_001263414.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      AC168217, AK038702, AK053886, AV085570, CJ130634, U43512
      Consensus CDS
      CCDS23518.1
      UniProtKB/Swiss-Prot
      Q62165
      UniProtKB/TrEMBL
      Q544G5, Q8BPJ7
      Related
      ENSMUSP00000128531.1, OTTMUSP00000069233, ENSMUST00000166905.7, OTTMUST00000128731
      Conserved Domains (3) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      cd11305
      Location:180302
      alpha_DG_C; C-terminal domain of alpha dystroglycan
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
    4. NM_001276486.1NP_001263415.1  dystroglycan preproprotein

      See identical proteins and their annotated locations for NP_001263415.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      AC168217, AK036174, AK038702, AV085570, CJ130634, U43512
      Consensus CDS
      CCDS23518.1
      UniProtKB/Swiss-Prot
      Q62165
      UniProtKB/TrEMBL
      Q544G5, Q8CBE6
      Related
      ENSMUSP00000142109.1, OTTMUSP00000069235, ENSMUST00000191899.5, OTTMUST00000128733
      Conserved Domains (3) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      cd11305
      Location:180302
      alpha_DG_C; C-terminal domain of alpha dystroglycan
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
    5. NM_001276492.1NP_001263421.1  dystroglycan preproprotein

      See identical proteins and their annotated locations for NP_001263421.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      AC168217, AK036174, AK038702, AV085570, BY256937, CB289895, U43512
      Consensus CDS
      CCDS23518.1
      UniProtKB/Swiss-Prot
      Q62165
      UniProtKB/TrEMBL
      Q544G5, Q8CBE6
      Conserved Domains (3) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      cd11305
      Location:180302
      alpha_DG_C; C-terminal domain of alpha dystroglycan
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
    6. NM_001276493.1NP_001263422.1  dystroglycan preproprotein

      See identical proteins and their annotated locations for NP_001263422.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      AC168217, AK038702, AV085570, CB289895, CJ106897, U43512
      Consensus CDS
      CCDS23518.1
      UniProtKB/Swiss-Prot
      Q62165
      UniProtKB/TrEMBL
      Q544G5
      Conserved Domains (3) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      cd11305
      Location:180302
      alpha_DG_C; C-terminal domain of alpha dystroglycan
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
    7. NM_010017.4NP_034147.1  dystroglycan preproprotein

      See identical proteins and their annotated locations for NP_034147.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-8 encode the same protein.
      Source sequence(s)
      AC168217, AK038702, AV085570, CB289895, U43512
      Consensus CDS
      CCDS23518.1
      UniProtKB/Swiss-Prot
      Q62165
      UniProtKB/TrEMBL
      Q544G5
      Related
      ENSMUSP00000130626.1, OTTMUSP00000069234, ENSMUST00000171412.6, OTTMUST00000128732
      Conserved Domains (3) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      cd11305
      Location:180302
      alpha_DG_C; C-terminal domain of alpha dystroglycan
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      108204861..108263958 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006511636.2XP_006511699.1  dystroglycan isoform X1

      See identical proteins and their annotated locations for XP_006511699.1

      UniProtKB/Swiss-Prot
      Q62165
      UniProtKB/TrEMBL
      Q544G5
      Conserved Domains (3) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      cd11305
      Location:180302
      alpha_DG_C; C-terminal domain of alpha dystroglycan
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001276494.1: Suppressed sequence

      Description
      NM_001276494.1: This RefSeq was removed because currently there is insufficient support for the transcript.
    Support Center