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Dag1 dystroglycan 1 [ Mus musculus (house mouse) ]

Gene ID: 13138, updated on 8-Feb-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
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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)
  • Targeted (8)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
enables laminin binding IDA
Inferred from Direct Assay
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 protein-containing complex binding IDA
Inferred from Direct Assay
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
 
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 cellular response to organic cyclic compound IDA
Inferred from Direct Assay
more info
PubMed 
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 
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within heart 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
 
involved_in muscle attachment IBA
Inferred from Biological aspect of Ancestor
more info
 
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 phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
Inferred from Sequence Orthology
more info
 
involved_in nerve development IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
acts_upstream_of_or_within protein transport IDA
Inferred from Direct Assay
more info
PubMed 
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 
acts_upstream_of_or_within regulation of synaptic plasticity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to muscle activity IDA
Inferred from Direct Assay
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 
Component Evidence Code Pubs
is_active_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
 
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
 
is_active_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
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
 
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
 
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
 
is_active_in glutamatergic synapse 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 ISO
Inferred from Sequence Orthology
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
is_active_in photoreceptor ribbon synapse IDA
Inferred from Direct Assay
more info
PubMed 
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
 
is_active_in postsynapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynaptic cytosol 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
 
located_in sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcolemma ISO
Inferred from Sequence Orthology
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

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

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.