Homo sapiens Gene: DAG1
Summary
InnateDB Gene IDBG-34876.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DAG1
Gene Name dystroglycan 1 (dystrophin-associated glycoprotein 1)
Synonyms 156DAG; A3a; AGRNR; DAG; MDDGC7; MDDGC9;
Species Homo sapiens
Ensembl Gene ENSG00000173402
Encoded Proteins
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
dystroglycan 1 (dystrophin-associated glycoprotein 1)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:49468703-49535618
Strand Forward strand
Band p21.31
Transcripts
ENST00000308775 ENSP00000312435
ENST00000421560 ENSP00000412067
ENST00000418588 ENSP00000405859
ENST00000431960 ENSP00000388833
ENST00000452317 ENSP00000387859
ENST00000452060 ENSP00000410145
ENST00000428779 ENSP00000401382
ENST00000419218 ENSP00000402443
ENST00000435508 ENSP00000415321
ENST00000430636 ENSP00000401805
ENST00000515359 ENSP00000440705
ENST00000469139
ENST00000466701
ENST00000461987
ENST00000461492
ENST00000496474
ENST00000475424
ENST00000479935
ENST00000545947 ENSP00000442600
ENST00000541308 ENSP00000440590
ENST00000539901 ENSP00000439334
ENST00000538711 ENSP00000438421
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 50 [view]
Protein-Protein 48 [view]
Protein-DNA 1 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001618 virus receptor activity
GO:0002162 dystroglycan binding
GO:0003779 actin binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008307 structural constituent of muscle
GO:0015631 tubulin binding
GO:0017166 vinculin binding
GO:0032403 protein complex binding
GO:0042169 SH2 domain binding
GO:0043237 laminin-1 binding
GO:0051393 alpha-actinin binding
Biological Process
GO:0002011 morphogenesis of an epithelial sheet
GO:0006509 membrane protein ectodomain proteolysis
GO:0006607 NLS-bearing protein import into nucleus
GO:0007016 cytoskeletal anchoring at plasma membrane
GO:0009615 response to virus
GO:0014044 Schwann cell development
GO:0016340 calcium-dependent cell-matrix adhesion
GO:0019048 modulation by virus of host morphology or physiology
GO:0021682 nerve maturation
GO:0022011 myelination in peripheral nervous system
GO:0030198 extracellular matrix organization
GO:0030336 negative regulation of cell migration
GO:0034453 microtubule anchoring
GO:0043409 negative regulation of MAPK cascade
GO:0043434 response to peptide hormone
GO:0051898 negative regulation of protein kinase B signaling
GO:0060441 epithelial tube branching involved in lung morphogenesis
GO:0060445 branching involved in salivary gland morphogenesis
GO:0071679 commissural neuron axon guidance
GO:0071711 basement membrane organization
Cellular Component
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005913 cell-cell adherens junction
GO:0005925 focal adhesion
GO:0009279 cell outer membrane
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016011 dystroglycan complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0030027 lamellipodium
GO:0030175 filopodium
GO:0033268 node of Ranvier
GO:0042383 sarcolemma
GO:0043034 costamere
GO:0045121 membrane raft
GO:0045211 postsynaptic membrane
GO:0070062 extracellular vesicular exosome
GO:0070938 contractile ring
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Extracellular matrix organization pathway
Integrin cell surface interactions pathway
ECM proteoglycans pathway
Non-integrin membrane-ECM interactions pathway
KEGG
ECM-receptor interaction pathway
Hypertrophic cardiomyopathy (HCM) pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Dilated cardiomyopathy pathway
Viral myocarditis pathway
INOH
PID BIOCARTA
Agrin in postsynaptic differentiation [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.605721 Hs.725679 Hs.731728 Hs.76111
RefSeq NM_001165928 NM_001177634 NM_001177635 NM_001177636 NM_001177637 NM_001177638 NM_001177639 NM_001177640 NM_001177641 NM_001177642 NM_001177643 NM_001177644 NM_004393
HUGO
OMIM
CCDS CCDS2799
HPRD 00546
IMGT
EMBL
GenPept
RNA Seq Atlas