InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DAG1

Summary

InnateDB Protein

IDBP-34878.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DAG1

Protein Name

dystroglycan 1 (dystrophin-associated glycoprotein 1)

Synonyms

156DAG; A3a; AGRNR; DAG; MDDGC7; MDDGC9;

Species

Homo sapiens

Ensembl Protein

ENSP00000312435

InnateDB Gene

IDBG-34876 (DAG1)

Protein Structure

UniProt Annotation

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.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.

Subcellular Localization

Alpha-dystroglycan: Secreted, extracellular space.Beta-dystroglycan: Cell membrane; Single- pass type I membrane protein. Cytoplasm, cytoskeleton. Nucleus, nucleoplasm. Cell membrane, sarcolemma {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. 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}.

Disease Associations

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:0000269PubMed: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.

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:0000269PubMed:15175026, ECO:0000269PubMed:8268918}.

Comments

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: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:0042169	SH2 domain binding
GO:0043237	laminin-1 binding
GO:0051393	alpha-actinin binding

Biological Process

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:0019048	modulation by virus of host morphology or physiology
GO:0030198	extracellular matrix organization
GO:0030336	negative regulation of cell migration
GO:0034453	microtubule anchoring
GO:0043409	negative regulation of MAPK cascade
GO:0051898	negative regulation of protein kinase B signaling

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:0005925	focal adhesion
GO:0016010	dystrophin-associated glycoprotein complex
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030027	lamellipodium
GO:0030175	filopodium
GO:0042383	sarcolemma
GO:0045211	postsynaptic membrane
GO:0070062	extracellular vesicular exosome
GO:0070938	contractile ring