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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DAG1 Gene

protein-coding   GIFtS: 67
GCID: GC03P049482

dystroglycan 1 (dystrophin-associated glycoprotein 1)
 Explore 47 diseases affiliated with
DAG1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DAG1    

Aliases
for DAG1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Dystroglycan 1 (Dystrophin-Associated Glycoprotein 1)1 2     MDDGC72
DAG1 2 5     MDDGC92
156DAG1 2     Dystroglycan1
A3a1 2     Dystrophin-Associated Glycoprotein 13
AGRNR1 2     

External Ids:    HGNC: 26661   Entrez Gene: 16052   Ensembl: ENSG000001734027   OMIM: 1282395   UniProtKB: Q141183   

Export aliases for DAG1 gene to outside databases

Previous GC identifers: GC03M048929 GC03M048831 GC03P049362 GC03P049466


Summaries
for DAG1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DAG1:
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)

UniProtKB/Swiss-Prot: DAG1_HUMAN, Q14118
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
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
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 Wiki entry for DAG1 (Dystroglycan)


Genomic Views
for DAG1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DAG1 gene promoter:
         c-Fos   AP-1   ATF-2   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DAG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DAG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DAG1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21

DAG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DAG1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P049482:  view genomic region     (about GC identifiers)

Start:
 49,506,146 bp from pter      End:
 49,573,048 bp from pter
Size:
 66,903 bases      Orientation:
 plus strand

Proteins
for DAG1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: DAG1_HUMAN, Q14118 (See protein sequence)
Recommended Name: Dystroglycan precursor  
Size: 895 amino acids; 97441 Da
Subunit: 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)
Subcellular location: Alpha-dystroglycan: Secreted, extracellular space
Subcellular location: Beta-dystroglycan: Cell membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton.
Nucleus, nucleoplasm. Cell membrane, sarcolemma (By similarity). Cell junction, synapse, postsynaptic cell membrane
(By similarity). 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
1 PDB 3D structure from and Proteopedia for DAG1:
1EG4 (3D)    
Secondary accessions: A8K6M7 Q969J9

Explore the universe of human proteins at neXtProt for DAG1: NX_Q14118

Post-translational modifications:

  • 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-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. 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-glycosylated1
  • 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 kDa1
  • 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 entry1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14118

    • DAG1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (13 alternative transcripts): 
    NP_001159400.2  NP_001171105.1  NP_001171106.1  NP_001171107.1  NP_001171108.1  NP_001171109.1  NP_001171110.1  NP_001171111.1  
    NP_001171112.1  NP_001171113.1  NP_001171114.1  NP_001171115.1  NP_004384.4  

    ENSEMBL proteins: 
     ENSP00000412067   ENSP00000312435   ENSP00000405859   ENSP00000388833   ENSP00000387859  
     ENSP00000415321   ENSP00000410145   ENSP00000401382   ENSP00000402443   ENSP00000401805  
     ENSP00000440705   ENSP00000442600   ENSP00000440590   ENSP00000439334   ENSP00000438421  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals DAG1 Protein
    Novus Biologicals DAG1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DAG1

    Gene Ontology (GO): 5/21 cellular component terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604basement membrane IDA19348877
    GO:0005615extracellular space IDA18201566
    GO:0005626insoluble fraction ----
    GO:0005654nucleoplasm IDA18764929
    GO:0005737cytoplasm IDA18764929


    DAG1 for ontologies           About GeneDecksing



    DAG1 Antibody Products: 
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    Uscn ELISAs and CLIAs for DAG1

    Protein Domains /
    Families
    for DAG1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DAG1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR015919 Cadherin-like
     IPR013783 Ig-like_fold
     IPR006644 Cadg
     IPR008465 DAG1

    Graphical View of Domain Structure for InterPro Entry Q14118

    ProtoNet protein and cluster: Q14118

    2 Blocks protein families:
    IPB006644 Dystroglycan-type cadherin-like domain
    IPB008465 Dystroglycan


    UniProtKB/Swiss-Prot: DAG1_HUMAN, Q14118
    Similarity: Contains 1 peptidase S72 domain


    Function
    for DAG1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: DAG1_HUMAN, Q14118
    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
    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
    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

         Genatlas biochemistry entry for DAG1:
    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

    miRNA
    Products:            		miRTarBase miRNAs that target DAG1:
    hsa-mir-29a (MIRT005906)

    OriGene 3'-UTR Clone (see all 2): DAG1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DAG1
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    hsa-miR-140-5p hsa-miR-4307 hsa-miR-300 hsa-miR-25 hsa-miR-4305 hsa-miR-1258 hsa-miR-766 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmid: DAG1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA18341635
    GO:0004872receptor activity ----
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI19109891
    GO:0008307structural constituent of muscle IMP18691338


    DAG1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for DAG1:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-outs for DAG1: Dag1tm3Kcam Dag1tm1Kcam
         13 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Dag1):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     growth/size  homeostasis/metabolism  mortality/aging  muscle  nervous system 
     no phenotypic analysis  normal  vision/eye 

    DAG1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for DAG1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrated Pancreatic Cancer Pathway
    		Integrated Pancreatic Cancer Pathway1.00
    		Integrated Pancreatic Cancer Pathway0.99
    2Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    		Arrhythmogenic right ventricular cardiomyopathy (ARVC)1.00
    		Arrhythmogenic right ventricular cardiomyopathy0.99
    3Hypertrophic cardiomyopathy (HCM)
    		Hypertrophic cardiomyopathy (HCM)1.00
    		Dilated cardiomyopathy0.75
    4Integrated Breast Cancer Pathway
    		Integrated Breast Cancer Pathway1.00
    5Agrin Interactions at Neuromuscular Junction
    		Agrin Interactions at Neuromuscular Junction1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for DAG1
        Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    nNOS Signaling in Skeletal Muscle
    Agrin Interactions at Neuromuscular Junction

    4 BioSystems Pathways for DAG1 
        Integrated Breast Cancer Pathway
    Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway
    Arrhythmogenic right ventricular cardiomyopathy


    5         Kegg Pathways  (Kegg details for DAG1):
        ECM-receptor interaction
    Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy
    Viral myocarditis


    DAG1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DAG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/69 Interacting proteins for DAG1 (Q141181, 2, 3 ENSP000003124354) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UTRNP469392, 3, ENSP000003565154MINT-18977 MINT-18976 I2D: score=2 STRING: ENSP00000356515
    FYNP062412, 3, ENSP000003576564MINT-8111091 I2D: score=4 STRING: ENSP00000357656
    PIK3R1P279862, 3, ENSP000002743354MINT-8111787 I2D: score=3 STRING: ENSP00000274335
    SRCP129312, 3, ENSP000003509414MINT-8112939 I2D: score=5 STRING: ENSP00000350941
    NCK1P163331, 3, ENSP000002889864EBI-1755945,EBI-3448658 I2D: score=3 STRING: ENSP00000288986
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002011morphogenesis of an epithelial sheet IEA--
    GO:0006509membrane protein ectodomain proteolysis IDA19946898
    GO:0006607NLS-bearing substrate import into nucleus IDA--
    GO:0007016cytoskeletal anchoring at plasma membrane IMP18341635
    GO:0014044Schwann cell development ----


    DAG1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DAG1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DAG1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for DAG1
    4 Novoseek chemical compound relationships for DAG1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetylcholine 25 4 10366602 (1), 7744958 (1), 16531417 (1)
    polysaccharide 15.2 7 15788414 (2), 19587235 (2), 16466646 (1), 15848172 (1)
    calcium 0 2 9791728 (1), 12963372 (1)
    heparin 0 5 10619025 (2), 12963372 (2)

    Search CenterWatch for drugs/clinical trials and news about DAG1 

    Transcripts
    for DAG1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DAG1 gene (13 alternative transcripts): 
    NM_001165928.3  NM_001177634.2  NM_001177635.2  NM_001177636.2  NM_001177637.2  NM_001177638.2  NM_001177639.2  NM_001177640.2  
    NM_001177641.2  NM_001177642.2  NM_001177643.2  NM_001177644.2  NM_004393.5  

    Unigene Cluster for DAG1:

    Dystroglycan 1 (dystrophin-associated glycoprotein 1)
    Hs.76111  [show with all ESTs]
    Unigene Representative Sequence: NM_001165928
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000469139 ENST00000421560 ENST00000308775 ENST00000418588 ENST00000431960
    ENST00000452317 ENST00000435508 ENST00000452060 ENST00000466701 ENST00000428779
    ENST00000461987 ENST00000461492 ENST00000419218 ENST00000430636 ENST00000496474
    ENST00000475424 ENST00000479935 ENST00000515359(uc021wxz.1)

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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK291692.1 AK297802.1 BC012740.2 BC014616.2 L19711.1 

    17 DOTS entries:

    DT.219807  DT.100659498  DT.95178088  DT.95075533  DT.120904326  DT.120904122  DT.91922083  DT.100780499 
    DT.120904198  DT.40116217  DT.75160208  DT.100742856  DT.120904533  DT.91765516  DT.95086220  DT.95193034 
    DT.102840619 

    24/499 AceView cDNA sequences (see all 499):

    AI031721 AI362068 F31074 AA776392 AA340773 BM479667 BU848781 BQ230594 
    BU164634 AU119166 AA339603 BC012740 BM718321 BX384229 CD514832 AL528227 
    BF792431 BC014616 F26600 AI932573 AI566766 BM709238 AA315848 BF512694 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for DAG1 (see all 11)    About this scheme

    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:                                      -     -           -     -     -     -     -     -                                                               


    ECgene alternative splicing isoforms for DAG1

    Expression
    for DAG1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DAG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGAGACGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    DAG1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/14 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 14) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Dorsal MusclesMultinuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleAnterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleCervical Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Vertebrae Column MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePelvic MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePosterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DAG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DAG1

    SOURCE GeneReport for Unigene cluster: Hs.76111

    UniProtKB/Swiss-Prot: DAG1_HUMAN, Q14118
    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

        SABiosciences Expression via Pathway-Focused PCR Array including DAG1: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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    Orthologs
    for DAG1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for DAG1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Dag11 , 5 dystroglycan 11, 5 86.97(n)1
    93.51(a)1    		   9 (59.08 cM)5
    131381  NM_010017.31  NP_034147.11 
     1082059585 
    chicken
    (Gallus gallus)    		 Aves DAG11 dystroglycan 1 (dystrophin-associated glycoprotein more 73.74(n)
    78.45(a)    		   100049058  NM_001097540.1  NP_001091009.1 
    lizard
    (Anolis carolinensis)    		 Reptilia DAG16
    		 --
    		 76(a)
    		 1 ↔ 1
    		 2(146867993-146896744)
    African clawed frog
    (Xenopus laevis)    		 Amphibia LOC3985002 dystroglycan 73.51(n)    AY188392.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii dag12 dystroglycan 1 75.1(n)   286829  AF483476.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Dg3 cytoskeletal anchoring cytoskeletal anchor
    protein    		 31(a)     --


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

    Paralogs
    for DAG1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DAG1 gene

    DAG1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DAG1
    PGOHUM00000239710


    Genomic Variants
    for DAG1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1070 NCBI SNPs in DAG1 are shown (see all 1070)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs125831,2
    		C,F,H,untested82904622(+) CAAGGG/TGTCTT 13 -- ut3120Minor allele frequency- T:0.23MN NS EA NA WA CSA 2425
    rs10500881,2
    		C,F,H,untested82905202(+) GAGAAT/CTCTTC 13 -- ut3124Minor allele frequency- C:0.49MN NS EA NA WA CSA 2538
    rs22290101,2
    		C,F,H,untested82906367(+) GCCTTC/TGAGAT 26 F syn18Minor allele frequency- T:0.00MN NS EA NA 550
    rs76223021,2
    		C,F,H,untested82928525(+) ACTAAC/G/TACATA 13 -- int120NS EA NA WA 2346
    rs1434164451,2
    		--49504288(+) CTGACC/TTCGTG 1 -- us2k10--------
    rs1483709211,2
    		--49504393(+) GTCACC/TTGGCT 1 -- us2k10--------
    rs1415402051,2
    		--49504523(+) TAATTG/TTTTGT 1 -- us2k10--------
    rs1504599321,2
    		--49504656(+) GTATGC/GCCATG 1 -- us2k10--------
    rs64462781,2
    		C,F,H,--49504696(+) ATCCAC/GCTGCC 1 -- us2k119Minor allele frequency- G:0.04NS EA NA WA CSA 689
    rs1435296621,2
    		--49504766(+) TTTTTG/TGTTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DAG1 (49506146 - 49573048 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DAG1
         1 Indel: 12301
    Human Gene Mutation Database (HGMD): DAG1

    Locus Specific Mutation Databases (LSDB): DAG1

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    Disorders / Diseases
    for DAG1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DAG1 for disorders           About GeneDecksing

    OMIM gene information: 128239    OMIM disorders: --

    UniProtKB/Swiss-Prot: DAG1_HUMAN, Q14118
  • Defects in DAG1 are the cause of muscular dystrophy-dystroglycanopathy limb-girdle type C7 (MDDGC7)
    • [MIM:613818]. An autosomal recessive muscular dystrophy showing onset in early childhood, and associated with mental
    retardation without structural brain anomalies. Note=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

    20/47 diseases for DAG1 (see all 47):    About MalaCards
    muscular dystrophy    duchenne muscular dystrophy    muscle-eye-brain disease    walker-warburg syndrome
    limb-girdle muscular dystrophy    inclusion body myopathy    muscular dystrophy-dystroglycanopathy    fukuyama congenital muscular dystrophy
    inclusion body myopathy 2    lassa fever    congenital muscular dystrophy    lymphocytic choriomeningitis
    peripheral nervous system disease    nervous system disease    oral squamous cell carcinoma    bronchopulmonary dysplasia
    sarcoglycanopathies    intellectual disability    squamous cell carcinoma    brain disease

    5 diseases from the University of Copenhagen DISEASES database for DAG1:
    Myopathy     Neuropathy     Lassa fever     Lissencephaly
    Intellectual disability

    10/12 Novoseek disease relationships for DAG1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    walker-warburg syndrome 87.3 3 17559086 (1), 19266496 (1), 16575835 (1)
    muscular dystrophies 86.9 21 16531417 (3), 15833426 (2), 15342399 (1), 15351499 (1) (see all 16)
    muscle-eye-brain disease 84.4 1 17559086 (1)
    lassa fever 79.3 4 15246261 (1), 17761532 (1), 16254363 (1), 16254364 (1)
    lymphocytic choriomeningitis 69 6 15246261 (1), 17761532 (1), 16254363 (1), 16254364 (1) (see all 6)
    muscular dystrophy duchenne 63.6 2 8113213 (1), 1461282 (1)
    breast carcinoma 28.9 3 12598319 (1), 19587235 (1)
    myopathy 24 1 16289897 (1)
    cancer 15.6 11 18808525 (4), 15341990 (1)
    necrosis 0 1 9436418 (1)

    Human Genome Epidemiology (HuGE) Navigator: DAG1 (6 documents)

    Export disorders for DAG1 gene to outside databases

    Publications
    for DAG1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DAG1 gene, integrated from 9 sources (see all 186):
    (articles sorted by number of sources associating them with DAG1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of an Importin alpha/beta-recognized nuclear localization signal in beta-dystroglycan. (PubMed id 20512930)1, 2, 9 Lara-ChacA^n B....Cisneros B. (2010)
    2. O Mannosylation of alpha-dystroglycan is essential for lymphocytic choriomeningitis virus receptor function. (PubMed id 16254364)1, 2, 9 Imperiali M....Oxenius A. (2005)
    3. Nuclear translocation of beta-dystroglycan reveals a distinctive trafficking pattern of autoproteolyzed mucins. (PubMed id 18764929)1, 2, 9 Oppizzi M.L....Muschler J.L. (2008)
    4. O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. (PubMed id 20044576)1, 2, 9 Yoshida-Moriguchi T.... Campbell K.P. (2010)
    5. Enzymatic processing of beta-dystroglycan recombinant ectodomain by MMP-9: identification of the main cleavage site. (PubMed id 19946898)1, 2, 9 Bozzi M....Coletta M. (2009)
    6. Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization. (PubMed id 8268918)1, 2, 9 Ibraghimov-Beskrovnaya O.... Campbell K.P. (1993)
    7. Characterization of site-specific O-glycan structures within the mucin-like domain of {alpha}-dystroglycan from human skeletal muscle. (PubMed id 20507882)1, 2 Nilsson J.... Grahn A. (2010)
    8. hAG-2 and hAG-3, human homologues of genes involved in differentiation, are associated with oestrogen receptor-positive breast tumours and interact with metastasis gene C4.4a and dystroglycan. (PubMed id 12592373)1, 2 Fletcher G.C....Terrett J.A. (2003)
    9. Localization of phospho-beta-dystroglycan (pY892) to an intracellular vesicular compartment in cultured cells and skeletal muscle fibers in vivo. (PubMed id 12795607)1, 2 Sotgia F....Lisanti M.P. (2003)
    10. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. (PubMed id 12140558)1, 2 Michele D.E....Campbell K.P. (2002)

    External Searches for DAG1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DAG1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1605 HGNC: 2666 AceView: DAG1 Ensembl:ENSG00000173402 euGenes: HUgn1605
    ECgene: DAG1 Kegg: 1605 H-InvDB: DAG1

    Other Databases showing DAG1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DAG1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DAG1 Pharmacogenomics, SNPs, Pathways
    LEIDEN Muscular Dystrophy page for DAG1 Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    Wikipedia http://en.wikipedia.org/wiki/Dystroglycan

    Intellectual Property
    for DAG1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for DAG1 gene:
    Search GeneIP for patents involving DAG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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