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    Dag1 dystroglycan 1 [ Mus musculus (house mouse) ]

    Gene ID: 13138, updated on 9-Dec-2024

    Summary

    Official Symbol
    Dag1provided by MGI
    Official Full Name
    dystroglycan 1provided by MGI
    Primary source
    MGI:MGI:101864
    See related
    Ensembl:ENSMUSG00000039952 AllianceGenome:MGI:101864
    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
    NEW
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    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
    RS_2024_02 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)

    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 STARR-positive B cell enhancer ABC_E2306 Neighboring gene STARR-positive B cell enhancer ABC_E6804 Neighboring gene STARR-positive B cell enhancer ABC_E8316 Neighboring gene STARR-positive B cell enhancer ABC_E2915 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)
    • Endonuclease-mediated (3) 
    • Targeted (9)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH2 domain binding  
    enables SH2 domain binding  
    enables actin binding  
    enables actin binding  
    enables alpha-actinin binding  
    enables alpha-actinin binding  
    enables calcium ion binding  
    enables dystroglycan binding PubMed 
    enables laminin binding  
    enables laminin binding PubMed 
    enables laminin binding  
    enables laminin-1 binding  
    enables laminin-1 binding  
    enables protein binding PubMed 
    enables protein-containing complex binding PubMed 
    enables structural constituent of muscle  
    enables structural constituent of muscle  
    enables tubulin binding  
    enables tubulin binding  
    enables vinculin binding  
    enables vinculin binding  
    enables virus receptor activity  
    enables virus receptor activity  
    Items 1 - 25 of 57
    Process Evidence Code Pubs
    involved_in Schwann cell development PubMed 
    involved_in angiogenesis involved in wound healing  
    involved_in axon guidance  
    involved_in axon regeneration  
    acts_upstream_of_or_within basement membrane organization PubMed 
    acts_upstream_of_or_within branching involved in salivary gland morphogenesis PubMed 
    involved_in calcium-dependent cell-matrix adhesion  
    involved_in calcium-dependent cell-matrix adhesion  
    involved_in cellular response to cholesterol  
    involved_in cellular response to mechanical stimulus  
    involved_in cellular response to mechanical stimulus  
    acts_upstream_of_or_within cellular response to organic cyclic compound PubMed 
    acts_upstream_of_or_within commissural neuron axon guidance PubMed 
    acts_upstream_of_or_within epithelial tube branching involved in lung morphogenesis PubMed 
    acts_upstream_of_or_within heart development PubMed 
    acts_upstream_of_or_within heart morphogenesis PubMed 
    involved_in membrane protein ectodomain proteolysis  
    involved_in membrane protein ectodomain proteolysis  
    involved_in microtubule anchoring  
    involved_in microtubule anchoring  
    acts_upstream_of_or_within morphogenesis of an epithelial sheet PubMed 
    involved_in morphogenesis of an epithelium  
    involved_in muscle attachment  
    involved_in myelination in peripheral nervous system PubMed 
    involved_in negative regulation of MAPK cascade  
    involved_in negative regulation of MAPK cascade  
    involved_in negative regulation of cell migration  
    involved_in negative regulation of cell migration  
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    involved_in nerve development  
    involved_in nerve maturation PubMed 
    involved_in positive regulation of basement membrane assembly involved in embryonic body morphogenesis  
    involved_in positive regulation of basement membrane assembly involved in embryonic body morphogenesis  
    involved_in positive regulation of cell-matrix adhesion  
    involved_in positive regulation of cell-matrix adhesion  
    involved_in positive regulation of myelination  
    involved_in positive regulation of myelination  
    involved_in positive regulation of oligodendrocyte differentiation  
    involved_in positive regulation of oligodendrocyte differentiation  
    acts_upstream_of_or_within protein transport PubMed 
    involved_in regulation of epithelial to mesenchymal transition  
    involved_in regulation of epithelial to mesenchymal transition  
    involved_in regulation of gastrulation  
    involved_in regulation of gastrulation  
    involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane PubMed 
    involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane PubMed 
    involved_in regulation of synapse organization PubMed 
    involved_in regulation of synapse organization PubMed 
    acts_upstream_of_or_within regulation of synaptic plasticity PubMed 
    involved_in response to denervation involved in regulation of muscle adaptation  
    acts_upstream_of_or_within response to muscle activity PubMed 
    involved_in response to peptide hormone  
    involved_in retrograde trans-synaptic signaling by trans-synaptic protein complex PubMed 
    involved_in retrograde trans-synaptic signaling by trans-synaptic protein complex PubMed 
    involved_in skeletal muscle tissue regeneration  
    involved_in symbiont entry into host cell  
    Items 1 - 25 of 57
    Items 1 - 20 of 57
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse PubMed 
    is_active_in GABA-ergic synapse PubMed 
    located_in adherens junction  
    located_in adherens junction  
    is_active_in basement membrane  
    located_in basement membrane PubMed 
    located_in basement membrane  
    located_in basolateral plasma membrane  
    located_in basolateral plasma membrane  
    is_active_in cell surface PubMed 
    located_in cell-cell junction PubMed 
    located_in contractile ring  
    located_in contractile ring  
    located_in costamere  
    located_in costamere  
    located_in cytoplasm  
    located_in cytoskeleton  
    part_of dystroglycan complex  
    part_of dystroglycan complex PubMed 
    part_of dystroglycan complex PubMed 
    part_of dystrophin-associated glycoprotein complex  
    located_in external side of plasma membrane PubMed 
    located_in extracellular region  
    located_in extracellular space PubMed 
    is_active_in extracellular space  
    located_in extracellular space  
    located_in filopodium  
    located_in filopodium  
    located_in focal adhesion  
    colocalizes_with focal adhesion  
    located_in focal adhesion  
    located_in glutamatergic synapse  
    is_active_in glutamatergic synapse  
    located_in intracellular membrane-bounded organelle  
    located_in lamellipodium  
    located_in lamellipodium  
    located_in membrane PubMed 
    located_in membrane  
    located_in membrane raft PubMed 
    located_in node of Ranvier PubMed 
    located_in nuclear periphery  
    located_in nuclear periphery  
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in photoreceptor ribbon synapse PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in plasma membrane  
    located_in plasma membrane raft  
    located_in plasma membrane raft  
    is_active_in postsynapse PubMed 
    located_in postsynaptic cytosol  
    is_active_in postsynaptic cytosol  
    located_in postsynaptic membrane  
    is_active_in sarcolemma  
    located_in sarcolemma PubMed 
    located_in sarcolemma  
    Items 1 - 20 of 57

    General protein information

    Preferred Names
    dystroglycan 1
    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 1 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
      Q61094, Q61141, Q61497, Q62165
      UniProtKB/TrEMBL
      Q544G5, Q8BPJ7
      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 1 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
      Q61094, Q61141, Q61497, Q62165
      UniProtKB/TrEMBL
      Q544G5, Q8BPJ7
      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 1 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
      Q61094, Q61141, Q61497, 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 1 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
      Q61094, Q61141, Q61497, Q62165
      UniProtKB/TrEMBL
      Q544G5, Q8BPJ7
      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 1 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
      Q61094, Q61141, Q61497, Q62165
      UniProtKB/TrEMBL
      Q544G5, Q8BPJ7
      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 1 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
      Q61094, Q61141, Q61497, Q62165
      UniProtKB/TrEMBL
      Q544G5, Q8BPJ7
      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 1 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
      Q61094, Q61141, Q61497, Q62165
      UniProtKB/TrEMBL
      Q544G5, Q8BPJ7
      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: 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_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 1 isoform X1

      UniProtKB/Swiss-Prot
      Q61094, Q61141, Q61497, Q62165
      UniProtKB/TrEMBL
      Q544G5, Q8BPJ7
      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 1 isoform X1

      See identical proteins and their annotated locations for XP_006511699.1

      UniProtKB/Swiss-Prot
      Q61094, Q61141, Q61497, Q62165
      UniProtKB/TrEMBL
      Q544G5, Q8BPJ7
      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 1 isoform X1

      UniProtKB/Swiss-Prot
      Q61094, Q61141, Q61497, Q62165
      UniProtKB/TrEMBL
      Q544G5, Q8BPJ7
      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

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