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DAG1 dystroglycan 1 [ Homo sapiens (human) ]

Gene ID: 1605, updated on 13-May-2022

Summary

Official Symbol
DAG1provided by HGNC
Official Full Name
dystroglycan 1provided by HGNC
Primary source
HGNC:HGNC:2666
See related
Ensembl:ENSG00000173402 MIM:128239; AllianceGenome:HGNC:2666
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
A3a; DAG; AGRNR; 156DAG; MDDGA9; MDDGC7; MDDGC9; LGMDR16
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. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]
Expression
Ubiquitous expression in placenta (RPKM 41.6), heart (RPKM 23.5) and 24 other tissues See more
Orthologs
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Genomic context

See DAG1 in Genome Data Viewer
Location:
3p21.31
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49468948..49535615)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49498008..49564630)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49506381..49573048)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene nicolin 1, tubulin polyglutamylase complex subunit Neighboring gene aminomethyltransferase Neighboring gene RNA, 5S ribosomal pseudogene 130 Neighboring gene BSN divergent transcript Neighboring gene bassoon presynaptic cytomatrix protein Neighboring gene Sharpr-MPRA regulatory region 2684

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of dystroglycan 1 (dystrophin-associated glycoprotein 1; DAG1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ51254

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SH2 domain binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables alpha-actinin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables dystroglycan binding IEA
Inferred from Electronic Annotation
more info
 
enables laminin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables laminin-1 binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of muscle IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables vinculin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables virus receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in aging IEA
Inferred from Electronic Annotation
more info
 
involved_in angiogenesis involved in wound healing IEA
Inferred from Electronic Annotation
more info
 
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in axon regeneration IEA
Inferred from Electronic Annotation
more info
 
involved_in basement membrane organization IEA
Inferred from Electronic Annotation
more info
 
involved_in branching involved in salivary gland morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium-dependent cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to cholesterol IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in commissural neuron axon guidance IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane protein ectodomain proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in microtubule anchoring IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in morphogenesis of an epithelial sheet IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of protein kinase B signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nerve development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nerve maturation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of basement membrane assembly involved in embryonic body morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of myelination IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of embryonic cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of gastrulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synapse organization IEA
Inferred from Electronic Annotation
more info
 
involved_in response to denervation involved in regulation of muscle adaptation IEA
Inferred from Electronic Annotation
more info
 
involved_in response to peptide hormone IEA
Inferred from Electronic Annotation
more info
 
involved_in retrograde trans-synaptic signaling by trans-synaptic protein complex IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
involved_in viral entry into host cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in Golgi lumen TAS
Traceable Author Statement
more info
 
located_in adherens junction IEA
Inferred from Electronic Annotation
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 basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in contractile ring IDA
Inferred from Direct Assay
more info
PubMed 
located_in costamere IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of dystroglycan complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of dystrophin-associated glycoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
located_in external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular region HDA PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
located_in filopodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in focal adhesion HDA PubMed 
colocalizes_with focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in node of Ranvier IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear periphery IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in plasma membrane raft IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic cytosol IEA
Inferred from Electronic Annotation
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 

General protein information

Preferred Names
dystroglycan 1
Names
dystroglycan 1 (dystrophin-associated glycoprotein 1)

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_013230.4 RefSeqGene

    Range
    5136..70484
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_854

mRNA and Protein(s)

  1. NM_001165928.4NP_001159400.3  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All variants encode the same protein.
    Source sequence(s)
    AC104452
    Consensus CDS
    CCDS2799.1
    Conserved Domains (4) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    PRK14971
    Location:303404
    PRK14971; DNA polymerase III subunit gamma/tau
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
    pfam18424
    Location:182304
    a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2
  2. NM_001177634.3NP_001171105.2  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AC104452
    Consensus CDS
    CCDS2799.1
    Related
    ENSP00000442600.1, ENST00000545947.5
  3. NM_001177635.3NP_001171106.2  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AC104452
    Consensus CDS
    CCDS2799.1
  4. NM_001177636.3NP_001171107.2  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AC104452
    Consensus CDS
    CCDS2799.1
    Related
    ENSP00000501140.1, ENST00000673708.1
  5. NM_001177637.3NP_001171108.2  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AC104452
    Consensus CDS
    CCDS2799.1
  6. NM_001177638.3NP_001171109.2  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AC104452
    Consensus CDS
    CCDS2799.1
    Related
    ENSP00000440590.1, ENST00000541308.5
  7. NM_001177639.3NP_001171110.2  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AC104452
    Consensus CDS
    CCDS2799.1
  8. NM_001177640.3NP_001171111.2  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AC104452
    Consensus CDS
    CCDS2799.1
    Related
    ENSP00000438421.1, ENST00000538711.5
  9. NM_001177641.3NP_001171112.2  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AC104452
    Consensus CDS
    CCDS2799.1
  10. NM_001177642.3NP_001171113.2  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AC104452
    Consensus CDS
    CCDS2799.1
  11. NM_001177643.3NP_001171114.2  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AC104452
    Consensus CDS
    CCDS2799.1
    Related
    ENSP00000440705.1, ENST00000515359.6
  12. NM_001177644.3NP_001171115.2  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AC104452
    Consensus CDS
    CCDS2799.1
    Related
    ENSP00000439334.1, ENST00000539901.5
  13. NM_004393.6NP_004384.5  dystroglycan 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AC104452, BM990874, L19711
    Consensus CDS
    CCDS2799.1
    Related
    ENSP00000312435.2, ENST00000308775.7
    Conserved Domains (4) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    PRK14971
    Location:303404
    PRK14971; DNA polymerase III subunit gamma/tau
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
    pfam18424
    Location:182304
    a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    49468948..49535615
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447546.1XP_047303502.1  dystroglycan 1 isoform X1

  2. XM_047447554.1XP_047303510.1  dystroglycan 1 isoform X1

  3. XM_047447574.1XP_047303530.1  dystroglycan 1 isoform X1

  4. XM_047447572.1XP_047303528.1  dystroglycan 1 isoform X1

  5. XM_047447558.1XP_047303514.1  dystroglycan 1 isoform X1

  6. XM_047447571.1XP_047303527.1  dystroglycan 1 isoform X1

  7. XM_047447549.1XP_047303505.1  dystroglycan 1 isoform X1

  8. XM_047447565.1XP_047303521.1  dystroglycan 1 isoform X1

  9. XM_047447569.1XP_047303525.1  dystroglycan 1 isoform X1

  10. XM_047447573.1XP_047303529.1  dystroglycan 1 isoform X1

  11. XM_047447568.1XP_047303524.1  dystroglycan 1 isoform X1

  12. XM_047447551.1XP_047303507.1  dystroglycan 1 isoform X1

  13. XM_047447553.1XP_047303509.1  dystroglycan 1 isoform X1

  14. XM_047447539.1XP_047303495.1  dystroglycan 1 isoform X1

  15. XM_047447567.1XP_047303523.1  dystroglycan 1 isoform X1

  16. XM_047447548.1XP_047303504.1  dystroglycan 1 isoform X1

  17. XM_047447541.1XP_047303497.1  dystroglycan 1 isoform X1

  18. XM_047447556.1XP_047303512.1  dystroglycan 1 isoform X1

  19. XM_047447566.1XP_047303522.1  dystroglycan 1 isoform X1

  20. XM_047447550.1XP_047303506.1  dystroglycan 1 isoform X1

  21. XM_047447540.1XP_047303496.1  dystroglycan 1 isoform X1

  22. XM_047447570.1XP_047303526.1  dystroglycan 1 isoform X1

  23. XM_047447577.1XP_047303533.1  dystroglycan 1 isoform X1

  24. XM_047447552.1XP_047303508.1  dystroglycan 1 isoform X1

  25. XM_047447560.1XP_047303516.1  dystroglycan 1 isoform X1

  26. XM_047447561.1XP_047303517.1  dystroglycan 1 isoform X1

  27. XM_047447543.1XP_047303499.1  dystroglycan 1 isoform X1

  28. XM_047447579.1XP_047303535.1  dystroglycan 1 isoform X1

  29. XM_047447547.1XP_047303503.1  dystroglycan 1 isoform X1

  30. XM_047447559.1XP_047303515.1  dystroglycan 1 isoform X1

  31. XM_047447563.1XP_047303519.1  dystroglycan 1 isoform X1

  32. XM_047447542.1XP_047303498.1  dystroglycan 1 isoform X1

  33. XM_047447576.1XP_047303532.1  dystroglycan 1 isoform X1

  34. XM_047447545.1XP_047303501.1  dystroglycan 1 isoform X1

  35. XM_047447557.1XP_047303513.1  dystroglycan 1 isoform X1

  36. XM_047447564.1XP_047303520.1  dystroglycan 1 isoform X1

  37. XM_047447544.1XP_047303500.1  dystroglycan 1 isoform X1

  38. XM_047447578.1XP_047303534.1  dystroglycan 1 isoform X1

  39. XM_047447555.1XP_047303511.1  dystroglycan 1 isoform X1

  40. XM_047447562.1XP_047303518.1  dystroglycan 1 isoform X1

  41. XM_047447575.1XP_047303531.1  dystroglycan 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    49498008..49564630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)