NCBI and Uniprot Product Information
NCBI Description
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 to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]
Uniprot Description
DAG1: a cytoskeletal protein that functions as a laminin receptor. Provides a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. May be involved in autosomal recessive muscular dystrophies. Its dramatic reduction 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. Binds to several types of arenaviruses. Is a target for the entry of Mycobacterium leprae into peripheral nerve Schwann cells. The muscle and nonmuscle isoforms of dystroglycan differ by carbohydrate moieties but not protein sequence.
Protein type: Membrane protein, integral; Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 3p21
Cellular Component: basement membrane; basolateral plasma membrane; cell-cell adherens junction; costamere; cytoplasm; cytoskeleton; dystroglycan complex; dystrophin-associated glycoprotein complex; extracellular region; extracellular space; filopodium; focal adhesion; integral to membrane; lamellipodium; lipid raft; nucleoplasm; plasma membrane; postsynaptic membrane; sarcolemma
Molecular Function: actin binding; alpha-actinin binding; calcium ion binding; laminin-1 binding; protein binding; protein complex binding; SH2 domain binding; structural constituent of muscle; tubulin binding; vinculin binding; viral receptor activity
Biological Process: calcium-dependent cell-matrix adhesion; cytoskeletal anchoring; entry of virus into host cell; extracellular matrix organization and biogenesis; membrane protein ectodomain proteolysis; morphogenesis of an epithelial sheet; myelination in the peripheral nervous system; negative regulation of cell migration; negative regulation of MAPKKK cascade; negative regulation of protein kinase B signaling cascade; nerve maturation; NLS-bearing substrate import into nucleus; regulation of gastrulation; response to peptide hormone stimulus; shape changes of embryonic cells; virus-host interaction
Disease: Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 9; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 9
Research Articles on DAG1
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Product Notes
The Human DAG1 dag1 (Catalog #AAA2606284) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA2606284 ELISA Kit recognizes Human DAG1. It is sometimes possible for the material contained within the vial of "Dystroglycan, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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