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Aliases for DAG1 Gene

Aliases for DAG1 Gene

  • Dystroglycan 1 (Dystrophin-Associated Glycoprotein 1) 2 3
  • MDDGC9 3 6
  • DAG 3 6
  • Dystrophin-Associated Glycoprotein-1 2
  • Dystrophin-Associated Glycoprotein 1 4
  • Alpha-Dystroglycan 2
  • Beta-Dystroglycan 2
  • Dystroglycan 3
  • MDDGC7 3
  • 156DAG 3
  • AGRNR 3
  • A3A 3

External Ids for DAG1 Gene

Previous GeneCards Identifiers for DAG1 Gene

  • GC03M048929
  • GC03M048831
  • GC03P049362
  • GC03P049466

Summaries for DAG1 Gene

Entrez Gene Summary for DAG1 Gene

  • Dystroglycan is a laminin binding component of the dystrophin-glycoprotein complex which provides a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. Dystroglycan 1 is a candidate gene for the site of the mutation in autosomal recessive muscular dystrophies. The dramatic reduction of dystroglycan 1 in Duchenne muscular dystrophy leads to a loss of linkage between the sarcolemma and extracellular matrix, rendering muscle fibers more susceptible to necrosis. Dystroglycan also functions as dual receptor for agrin and laminin-2 in the Schwann cell membrane. The muscle and nonmuscle isoforms of dystroglycan differ by carbohydrate moieties but not protein sequence. Alternative splicing results in multiple transcript variants all encoding the same protein.[provided by RefSeq, Apr 2010]

GeneCards Summary for DAG1 Gene

DAG1 (Dystroglycan 1 (Dystrophin-Associated Glycoprotein 1)) is a Protein Coding gene. Diseases associated with DAG1 include muscular dystrophy-dystroglycanopathy , type c, 9 and autosomal recessive limb-girdle muscular dystrophy type 2p. Among its related pathways are Degradation of the extracellular matrix and Integrin cell surface interactions. GO annotations related to this gene include calcium ion binding and structural constituent of muscle.

UniProtKB/Swiss-Prot for DAG1 Gene

  • The dystroglycan complex is involved in a number of processes including laminin and basement membrane assembly, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, and epithelial polarization

  • Alpha-dystroglycan is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin-G domains, and for certain adenoviruses. Receptor for laminin-2 (LAMA2) and agrin in peripheral nerve Schwann cells. Also acts as a receptor for M.leprae in peripheral nerve Schwann cells but only in the presence of the G-domain of LAMA2, and for lymphocytic choriomeningitis virus, Old World Lassa fever virus, and clade C New World arenaviruses

  • Beta-dystroglycan is a transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton. Acts as a cell adhesion receptor in both muscle and non-muscle tissues. Receptor for both DMD and UTRN and, through these interactions, scaffolds axin to the cytoskeleton. Also functions in cell adhesion-mediated signaling and implicated in cell polarity

Gene Wiki entry for DAG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DAG1 Gene

Genomics for DAG1 Gene

Regulatory Elements for DAG1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DAG1 Gene

Start:
49,468,703 bp from pter
End:
49,535,618 bp from pter
Size:
66,916 bases
Orientation:
Plus strand

Genomic View for DAG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DAG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAG1 Gene

Proteins for DAG1 Gene

  • Protein details for DAG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14118-DAG1_HUMAN
    Recommended name:
    Dystroglycan
    Protein Accession:
    Q14118
    Secondary Accessions:
    • A8K6M7
    • Q969J9

    Protein attributes for DAG1 Gene

    Size:
    895 amino acids
    Molecular mass:
    97441 Da
    Quaternary structure:
    • Monomer. Heterodimer of alpha- and beta-dystroglycan subunits which are the central components of the dystrophin-glycoprotein complex. This complex then can form a dystrophin-associated glycoprotein complex (DGC) which is composed of three subcomplexes: a cytoplasmic complex comprised of DMD (or UTRN), DTNA and a number of syntrophins, such as SNTB1, SNTB2, SNTG1 and SNTG2, the transmembrane dystroglycan complex, and the sarcoglycan-sarcospan complex. Interacts (via the N-terminal of alphaDAG1) with LARGE; the interaction enhances laminin binding (By similarity). Interacts with SGCD. Interacts with AGR2 and AGR3. Interacts (betaDAG1) with DMD; the interaction is inhibited by phosphorylaion on the PPXY motif. Interacts (betaDAG1, via its PPXY motif) with UTRN (via its WWW and ZZ domains); the interaction is inhibited by phosphorylation on the PPXY motif. Interacts (betaDAG1, via its phosphorylated PPXY motif) with the SH2 domain-containing proteins, FYN, CSK, NCK and SHC. Interacts (betaDAG1) with CAV3 (via a central WW-like domain); the interaction disrupts the binding of DMD. BetaDAG1 directly interacts with ANK3, but not with ANK2; this interaction does not interfere with DMD-binding and is required for retention at costameres (By similarity).

    Three dimensional structures from OCA and Proteopedia for DAG1 Gene

neXtProt entry for DAG1 Gene

Proteomics data for DAG1 Gene at MOPED

Post-translational modifications for DAG1 Gene

  • Autolytic cleavage produces the alpha and beta subunits. In cutaneous cells, as well as in certain pathological conditions, shedding of beta-dystroglcan can occur releasing a peptide of about 30 kDa.
  • O- and N-glycosylated. Alpha-dystroglycan is heavily O-glycosylated comprising of up to two thirds of its mass and the carbohydrate composition differs depending on tissue type. Mucin-type O-glycosylation is important for ligand binding activity. O-mannosylation of alpha-DAG1 is found in high abundance in both brain and muscle where the most abundant glycan is Sia-alpha-2-3-Gal-beta-1-4-Glc-NAc-beta-1-2-Man. In muscle, glycosylation on Thr-317, Thr-319 and Thr-379 by a phosphorylated O-mannosyl glycan with the structure 2-(N-acetylamido)-2-deoxygalactosyl-beta-1,3-2-(N-acetylamido)-2-deoxyglucosyl-beta-1,4-6-phosphomannose is mediated by like-acetylglucosaminyltransferase (LARGE) protein and is required for laminin binding (PubMed:20044576, PubMed:21987822, PubMed:24256719). O-mannosylation is also required for binding lymphocytic choriomeningitis virus, Old World Lassa fever virus, and clade C New World arenaviruses. The O-glycosyl hexose on Thr-367, Thr-369, Thr-372, Thr-381 and Thr-388 is probably mannose. O-glycosylated in the N-terminal region with a core 1 or possibly core 8 glycan. The beta subunit is N-glycosylated.
  • SRC-mediated phosphorylation of the PPXY motif of the beta subunit recruits SH2 domain-containing proteins, but inhibits binding to WWW domain-containing proteins, DMD and UTRN. This phosphorylation also inhibits nuclear entry
  • Ubiquitination at Lys782 and Lys793
  • Glycosylation at Thr63, Asn141, Thr367, Thr369, Thr372, Thr379, Thr381, Thr388, Ser430, Thr431, Thr436, Ser438, Thr439, Ser441, Thr442, Thr443, Thr444, Thr445, Thr446, Thr450, Thr455, Thr463, Thr464, Thr469, Thr473, Ser475, Thr478, Thr482, Thr483, Thr484, Ser485, Asn641, Asn649, Asn661, Ser729, and Thr734
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for DAG1 Gene

Domains for DAG1 Gene

Suggested Antigen Peptide Sequences for DAG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14118

UniProtKB/Swiss-Prot:

DAG1_HUMAN :
  • Q14118
Domain:
  • Contains 1 peptidase S72 domain.
genes like me logo Genes that share domains with DAG1: view

No data available for Gene Families for DAG1 Gene

Function for DAG1 Gene

Molecular function for DAG1 Gene

GENATLAS Biochemistry: dystrophin associated glycoprotein 1 (97kDa).expressed in muscle,epithelial cells and cells of the nervous system,precursor of the 43kDa DYS associated transmembrane glycoprotein DAG beta (dystroglycan beta),binding to dystrophin or utrophin or one of their truncated forms by its cytoplasmic tail,and a 156kDa extracellular component DAG alpha (dystroglycan alpha) membrane associated through a non covalent interaction with the extracellular domain of DAG beta,also bound to laminin 2 (alpha 2,beta 1,gamma 1) and to agrin and perlecan,multifunctional protein critical in the formation of extracellular matrix in cells contacting basement membranes,connecting the intracellular cytoskeleton to ECM and protecting muscle from mechanical injury,receptor for lymphocytic choriomeningitis virus and Lassa fever virus,also acting as a Schwann cell receptor for mycobacterium leprae,in the presence of the G domain of LAMA2
UniProtKB/Swiss-Prot Function: The dystroglycan complex is involved in a number of processes including laminin and basement membrane assembly, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, and epithelial polarization
UniProtKB/Swiss-Prot Function: Alpha-dystroglycan is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin-G domains, and for certain adenoviruses. Receptor for laminin-2 (LAMA2) and agrin in peripheral nerve Schwann cells. Also acts as a receptor for M.leprae in peripheral nerve Schwann cells but only in the presence of the G-domain of LAMA2, and for lymphocytic choriomeningitis virus, Old World Lassa fever virus, and clade C New World arenaviruses
UniProtKB/Swiss-Prot Function: Beta-dystroglycan is a transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton. Acts as a cell adhesion receptor in both muscle and non-muscle tissues. Receptor for both DMD and UTRN and, through these interactions, scaffolds axin to the cytoskeleton. Also functions in cell adhesion-mediated signaling and implicated in cell polarity

Gene Ontology (GO) - Molecular Function for DAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0002162 dystroglycan binding IEA --
GO:0003779 actin binding IDA 18341635
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 10767429
genes like me logo Genes that share ontologies with DAG1: view
genes like me logo Genes that share phenotypes with DAG1: view

Animal Models for DAG1 Gene

MGI Knock Outs for DAG1:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DAG1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DAG1 Gene

Localization for DAG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAG1 Gene

Alpha-dystroglycan: Secreted, extracellular space.
Beta-dystroglycan: Cell membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton. Nucleus, nucleoplasm. Cell membrane, sarcolemma. Cell junction, synapse, postsynaptic cell membrane. Note=The monomeric form translocates to the nucleus via the action of importins and depends on RAN. Nuclear transport is inhibited by Tyr-892 phosphorylation. In skeletal muscle, this phosphorylated form locates to a vesicular internal membrane compartment. In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs) in the presence of ANK2 (By similarity). In peripheral nerves, localizes to the Schwann cell membrane. Colocalizes with ERM proteins in Schwann-cell microvilli. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DAG1 Gene COMPARTMENTS Subcellular localization image for DAG1 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
plasma membrane 5
golgi apparatus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IDA 19348877
GO:0005615 extracellular space IDA 16502470
GO:0005654 nucleoplasm IDA 18764929
GO:0005737 cytoplasm IDA 18764929
genes like me logo Genes that share ontologies with DAG1: view

Pathways for DAG1 Gene

genes like me logo Genes that share pathways with DAG1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for DAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002011 morphogenesis of an epithelial sheet IEA --
GO:0006509 membrane protein ectodomain proteolysis IDA 19946898
GO:0006607 NLS-bearing protein import into nucleus IDA 20512930
GO:0007016 cytoskeletal anchoring at plasma membrane IMP 18341635
GO:0009615 response to virus --
genes like me logo Genes that share ontologies with DAG1: view

Compounds for DAG1 Gene

(4) Novoseek inferred chemical compound relationships for DAG1 Gene

Compound -log(P) Hits PubMed IDs
acetylcholine 25 3
polysaccharide 15.2 6
calcium 0 2
heparin 0 4
genes like me logo Genes that share compounds with DAG1: view

Transcripts for DAG1 Gene

Unigene Clusters for DAG1 Gene

Dystroglycan 1 (dystrophin-associated glycoprotein 1):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DAG1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DAG1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g ^ 10a · 10b · 10c
SP1: - - - - - -
SP2: - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - -
SP10:
SP11: - - - - - - - -

Relevant External Links for DAG1 Gene

GeneLoc Exon Structure for
DAG1
ECgene alternative splicing isoforms for
DAG1

Expression for DAG1 Gene

mRNA expression in normal human tissues for DAG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DAG1 Gene

SOURCE GeneReport for Unigene cluster for DAG1 Gene Hs.76111

mRNA Expression by UniProt/SwissProt for DAG1 Gene

Q14118-DAG1_HUMAN
Tissue specificity: Expressed in a variety of fetal and adult tissues. In epidermal tissue, located to the basement membrane. Also expressed in keratinocytes and fibroblasts.
genes like me logo Genes that share expressions with DAG1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for DAG1 Gene

Orthologs for DAG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DAG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DAG1 35
  • 99.63 (n)
  • 99.44 (a)
DAG1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DAG1 35
  • 87.82 (n)
  • 93.18 (a)
DAG1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DAG1 35
  • 88.79 (n)
  • 95.18 (a)
DAG1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dag1 35
  • 86.97 (n)
  • 93.51 (a)
Dag1 16
Dag1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DAG1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DAG1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dag1 35
  • 86.04 (n)
  • 92.95 (a)
chicken
(Gallus gallus)
Aves DAG1 35
  • 72.99 (n)
  • 77.22 (a)
DAG1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DAG1 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398500 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dag1 35
  • 66.9 (n)
  • 69.94 (a)
Str.15062 35
zebrafish
(Danio rerio)
Actinopterygii dag1 35
  • 63.33 (n)
  • 64.78 (a)
dag1 36
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dg 36
  • 18 (a)
OneToOne
Dg 37
  • 31 (a)
Species with no ortholog for DAG1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DAG1 Gene

ENSEMBL:
Gene Tree for DAG1 (if available)
TreeFam:
Gene Tree for DAG1 (if available)

Paralogs for DAG1 Gene

Pseudogenes.org Pseudogenes for DAG1 Gene

genes like me logo Genes that share paralogs with DAG1: view

No data available for Paralogs for DAG1 Gene

Variants for DAG1 Gene

Sequence variations from dbSNP and Humsavar for DAG1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs4625 untested 49,534,707(+) GTCCC(A/G)TGACT utr-variant-3-prime
rs11340 -- 49,534,540(+) GCTTA(C/T)AGCAG utr-variant-3-prime
rs12583 untested 49,534,029(+) CAAGG(G/T)GTCTT utr-variant-3-prime
rs13827 -- 49,534,494(+) TACAG(C/T)CTCAA utr-variant-3-prime
rs14119 -- 49,535,346(+) GGCTG(C/G)CCCAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DAG1 Gene

Variant ID Type Subtype PubMed ID
nsv834687 CNV Loss 17160897
esv2670969 CNV Deletion 23128226
esv2666668 CNV Deletion 23128226
nsv237516 CNV Loss 16902084
esv2670482 CNV Deletion 23128226

Relevant External Links for DAG1 Gene

HapMap Linkage Disequilibrium report
DAG1
Human Gene Mutation Database (HGMD)
DAG1
Locus Specific Mutation Databases (LSDB)
DAG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DAG1 Gene

Disorders for DAG1 Gene

(1) OMIM Diseases for DAG1 Gene (128239)

UniProtKB/Swiss-Prot

DAG1_HUMAN
  • Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818]: An autosomal recessive muscular dystrophy showing onset in early childhood, and associated with mental retardation without structural brain anomalies. {ECO:0000269 PubMed:21388311}. Note=The disease is caused by mutations affecting the gene represented in this entry. MDDGC7 is caused by DAG1 mutations that interfere with normal post-translational processing, resulting in defective DAG1 glycosylation and impaired interactions with extracellular-matrix components. Other muscular dystrophy-dystroglycanopathies are caused by defects in enzymes involved in protein O-glycosylation.

(5) University of Copenhagen DISEASES for DAG1 Gene

(12) Novoseek inferred disease relationships for DAG1 Gene

Disease -log(P) Hits PubMed IDs
walker-warburg syndrome 87.3 3
muscular dystrophies 86.9 19
muscle-eye-brain disease 84.4 1
lassa fever 79.3 4
lymphocytic choriomeningitis 69 6

Relevant External Links for DAG1

Genetic Association Database (GAD)
DAG1
Human Genome Epidemiology (HuGE) Navigator
DAG1
genes like me logo Genes that share disorders with DAG1: view

Publications for DAG1 Gene

  1. Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization. (PMID: 8268918) Ibraghimov-Beskrovnaya O. … Campbell K.P. (Hum. Mol. Genet. 1993) 3 4 23
  2. O Mannosylation of alpha-dystroglycan is essential for lymphocytic choriomeningitis virus receptor function. (PMID: 16254364) Imperiali M. … Oxenius A. (J. Virol. 2005) 3 4 23
  3. Nuclear translocation of beta-dystroglycan reveals a distinctive trafficking pattern of autoproteolyzed mucins. (PMID: 18764929) Oppizzi M.L. … Muschler J.L. (Traffic 2008) 3 4 23
  4. Enzymatic processing of beta-dystroglycan recombinant ectodomain by MMP-9: identification of the main cleavage site. (PMID: 19946898) Bozzi M. … Coletta M. (IUBMB Life 2009) 3 4 23
  5. O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. (PMID: 20044576) Yoshida-Moriguchi T. … Campbell K.P. (Science 2010) 3 4 23

Products for DAG1 Gene

  • Addgene plasmids for DAG1

Sources for DAG1 Gene

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