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    Dag1 dystroglycan 1 [ Mus musculus (house mouse) ]

    Gene ID: 13138, updated on 5-Sep-2021

    Summary

    Official Symbol
    Dag1provided by MGI
    Official Full Name
    dystroglycan 1provided by MGI
    Primary source
    MGI:MGI:101864
    See related
    Ensembl:ENSMUSG00000039952
    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; D9Wsu13; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Dag1 in Genome Data Viewer
    Location:
    9 F1- F2; 9 59.08 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (108082060..108141176, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (108204861..108263977, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (108108289..108166067, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene bassoon Neighboring gene RIKEN cDNA 4930447F24 gene Neighboring gene glycine cleavage system protein H (aminomethyl carrier) pseudogene 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 Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    dystroglycan
    Names
    dystrophin associated glycoprotein 1

    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_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 (4) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      PRK14971
      Location:301414
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
      pfam18424
      Location:180302
      a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2
    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
      ENSMUSP00000079294.3, ENSMUST00000080435.9
      Conserved Domains (4) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      PRK14971
      Location:301414
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
      pfam18424
      Location:180302
      a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2
    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
      ENSMUSP00000128531.2, ENSMUST00000166905.8
      Conserved Domains (4) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      PRK14971
      Location:301414
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
      pfam18424
      Location:180302
      a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2
    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
      ENSMUSP00000142109.2, ENSMUST00000191899.6
      Conserved Domains (4) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      PRK14971
      Location:301414
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
      pfam18424
      Location:180302
      a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2
    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 (4) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      PRK14971
      Location:301414
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
      pfam18424
      Location:180302
      a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2
    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 (4) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      PRK14971
      Location:301414
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
      pfam18424
      Location:180302
      a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2
    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
      ENSMUSP00000130626.2, ENSMUST00000171412.7
      Conserved Domains (4) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      PRK14971
      Location:301414
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
      pfam18424
      Location:180302
      a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      108082060..108141176 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244041.2XP_030099901.1  dystroglycan isoform X1

      Conserved Domains (4) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      PRK14971
      Location:301414
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
      pfam18424
      Location:180302
      a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2
    2. XM_006511636.4XP_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 (4) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      PRK14971
      Location:301414
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
      pfam18424
      Location:180302
      a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2
    3. XM_030244040.2XP_030099900.1  dystroglycan isoform X1

      Conserved Domains (4) summary
      cd11303
      Location:60161
      Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
      PRK14971
      Location:301414
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam05454
      Location:604893
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
      pfam18424
      Location:180302
      a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2

    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