• Gene id: 1605

Gene Summary

• Gene Symbol: DAG1   Gene   UCSC   Ensembl
• Aliases: 156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9
• Gene name: dystroglycan 1
• Alternate names: dystroglycan, dystroglycan 1 (dystrophin-associated glycoprotein 1),
• Gene location: 3p21.31 (49468702: 49535617)     Exons: 9     NC_000003.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q14118  
  • Name: Dystroglycan (Dystrophin associated glycoprotein 1) [Cleaved into: Alpha dystroglycan (Alpha DG); Beta dystroglycan (Beta DG)]
  • Length: 895  
  • Mass: 97441
  • 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. {ECO
• Sequence:

  MRMSVGLSLLLPLSGRTFLLLLSVVMAQSHWPSEPSEAVRDWENQLEASMHSVLSDLHEAVPTVVGIPDGTAVVG
  RSFRVTIPTDLIASSGDIIKVSAAGKEALPSWLHWDSQSHTLEGLPLDTDKGVHYISVSATRLGANGSHIPQTSS
  VFSIEVYPEDHSELQSVRTASPDPGEVVSSACAADEPVTVLTVILDADLTKMTPKQRIDLLHRMRSFSEVELHNM
  KLVPVVNNRLFDMSAFMAGPGNAKKVVENGALLSWKLGCSLNQNSVPDIHGVEAPAREGAMSAQLGYPVVGWHIA
  NKKPPLPKRVRRQIHATPTPVTAIGPPTTAIQEPPSRIVPTPTSPAIAPPTETMAPPVRDPVPGKPTVTIRTRGA
  IIQTPTLGPIQPTRVSEAGTTVPGQIRPTMTIPGYVEPTAVATPPTTTTKKPRVSTPKPATPSTDSTTTTTRRPT
  KKPRTPRPVPRVTTKVSITRLETASPPTRIRTTTSGVPRGGEPNQRPELKNHIDRVDAWVGTYFEVKIPSDTFYD
  HEDTTTDKLKLTLKLREQQLVGEKSWVQFNSNSQLMYGLPDSSHVGKHEYFMHATDKGGLSAVDAFEIHVHRRPQ
  GDRAPARFKAKFVGDPALVLNDIHKKIALVKKLAFAFGDRNCSTITLQNITRGSIVVEWTNNTLPLEPCPKEQIA
  GLSRRIAEDDGKPRPAFSNALEPDFKATSITVTGSGSCRHLQFIPVVPPRRVPSEAPPTEVPDRDPEKSSEDDVY
  LHTVIPAVVVAAILLIAGIIAMICYRKKRKGKLTLEDQATFIKKGVPIIFADELDDSKPPPSSSMPLILQEEKAP
  LPPPEYPNQSVPETTPLNQDTMGEYTPLRDEDPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP

• Structural information:
  • Protein Domains: (603..71-)
    (/note="Peptidase-S72")
  • Interpro: IPR027468  IPR041631  IPR006644  IPR015919  IPR008465   IPR013783  IPR030398  
  • Prosite: PS51699
  • PDB: 1EG4 2MK7 5GGP 5LLK 6JJY
  • PDBsum: 1EG4 2MK7 5GGP 5LLK 6JJY
  • DIP: 40928
  • STRING: ENSP00000442600
• Other Databases: GeneCards:  DAG1  Malacards:  DAG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005604	basement membrane	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0016203	muscle attachment	IBA	biological process
GO:0002009	morphogenesis of an epithelium	IBA	biological process
GO:0007411	axon guidance	IBA	biological process
GO:0009925	basal plasma membrane	IBA	cellular component
GO:0016011	dystroglycan complex	IBA	cellular component
GO:0021675	nerve development	IBA	biological process
GO:0042383	sarcolemma	IBA	cellular component
GO:0043236	laminin binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016010	dystrophin-associated glycoprotein complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0001618	virus receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002162	dystroglycan binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0016011	dystroglycan complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0022011	myelination in peripheral nervous system	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0050807	regulation of synapse organization	IEA	biological process
GO:0060441	epithelial tube branching involved in lung morphogenesis	IEA	biological process
GO:0071711	basement membrane organization	IEA	biological process
GO:0098696	regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IEA	biological process
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0014037	Schwann cell differentiation	IEA	biological process
GO:0016010	dystrophin-associated glycoprotein complex	IEA	cellular component
GO:0016340	calcium-dependent cell-matrix adhesion	IEA	biological process
GO:0021675	nerve development	IEA	biological process
GO:0031103	axon regeneration	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0043034	costamere	IEA	cellular component
GO:0043236	laminin binding	IEA	molecular function
GO:0043434	response to peptide hormone	IEA	biological process
GO:0044853	plasma membrane raft	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045860	positive regulation of protein kinase activity	IEA	biological process
GO:0048714	positive regulation of oligodendrocyte differentiation	IEA	biological process
GO:0060055	angiogenesis involved in wound healing	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0071397	cellular response to cholesterol	IEA	biological process
GO:0099524	postsynaptic cytosol	IEA	cellular component
GO:0002011	morphogenesis of an epithelial sheet	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0014044	Schwann cell development	IEA	biological process
GO:0021682	nerve maturation	IEA	biological process
GO:0033268	node of Ranvier	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0060445	branching involved in salivary gland morphogenesis	IEA	biological process
GO:0071679	commissural neuron axon guidance	IEA	biological process
GO:0098942	retrograde trans-synaptic signaling by trans-synaptic protein complex	IEA	biological process
GO:0001954	positive regulation of cell-matrix adhesion	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0007568	aging	IEA	biological process
GO:0014894	response to denervation involved in regulation of muscle adaptation	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0031643	positive regulation of myelination	IEA	biological process
GO:0034399	nuclear periphery	IEA	cellular component
GO:0043237	laminin-1 binding	IEA	molecular function
GO:0043403	skeletal muscle tissue regeneration	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0046718	viral entry into host cell	IEA	biological process
GO:0070938	contractile ring	IDA	cellular component
GO:0051393	alpha-actinin binding	IDA	molecular function
GO:0030175	filopodium	IDA	cellular component
GO:0006509	membrane protein ectodomain proteolysis	IDA	biological process
GO:0005604	basement membrane	IDA	cellular component
GO:0042169	SH2 domain binding	IDA	molecular function
GO:0019048	modulation by virus of host process	IDA	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0015631	tubulin binding	IDA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0003779	actin binding	IDA	molecular function
GO:0030027	lamellipodium	IDA	cellular component
GO:0005925	focal adhesion	IDA	colocalizes with
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0043237	laminin-1 binding	ISS	molecular function
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0008307	structural constituent of muscle	IMP	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0010717	regulation of epithelial to mesenchymal transition	IMP	biological process
GO:1904261	positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IMP	biological process
GO:0017166	vinculin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0034453	microtubule anchoring	IMP	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051898	negative regulation of protein kinase B signaling	IMP	biological process
GO:0043409	negative regulation of MAPK cascade	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0010470	regulation of gastrulation	IMP	biological process
GO:0016476	regulation of embryonic cell shape	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05414	Dilated cardiomyopathy
hsa04512	ECM-receptor interaction
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa05416	Viral myocarditis

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Limb-girdle muscular dystrophy	KEGG:H00593
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Fukuyama congenital muscular dystrophy	PMID:11445638
autosomal recessive limb-girdle muscular dystrophy type 2D	PMID:15833425
Duchenne muscular dystrophy	PMID:7630355
Duchenne muscular dystrophy	PMID:11445638
Duchenne muscular dystrophy	PMID:15833425
Inclusion body myositis	PMID:14972325
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq