Dystroglycan

Information about Dystroglycan

dystroglycan 1 (dystrophin-associated glycoprotein 1)
Identifiers
SymbolDAG1
Entrez1605
HUGO2666
OMIM128239
RefSeqNM_004393
UniProtQ14118
Other data
LocusChr. 3 p21
Dystroglycan is one of the dystrophin-associated glycoproteins, which is encoded by a 5.5 kb transcript in Homo sapiens by chromosome 3. There are two exons that are separated by a large intron. The spliced exons codes for a protein product is finally cleaved into two non-covalently associated subunits, [alpha] (N-terminal) and [beta] (C-terminal). In skeletal muscle the dystroglycan complex works as a transmembrane linkage between the extracellular matrix and the cytoskeleton. [alpha]-dystroglycan is extracellular and binds to merosin [alpha]-2 laminin in the basement membrane, while [beta]-dystroglycan is a transmembrane protein and binds to dystrophin, which is a large rod-like cytoskeletal protein, absent in Duchenne muscular dystrophy patients. Dystrophin binds to intracellular actin cables. In this way, the dystroglycan complex, which links the extracellular matrix to the intracellular actin cables, is thought to provide structural integrity in muscle tissues. The dystroglycan complex is also known to serve as an agrin receptor in muscle, where it may regulate agrin-induced acetylcholine receptor clustering at the neuromuscular junction. There is also evidence which suggests the function of dystroglycan as a part of the signal transduction pathway because it is shown that Grb2, a mediator of the Ras-related signal pathway, can interact with the cytoplasmic domain of dystroglycan. In general, aberrant expression of dystrophin-associated protein complex underlies the pathogenesis of Duchenne muscular dystrophy, Becker muscular dystrophy and severe childhood autosomal recessive muscular dystrophy. Interestingly, no genetic disease has been described for either [alpha]- or [beta]-dystroglycan. Dystroglycan is widely distributed in non-muscle tissues as well as in muscle tissues. During epithelial morphogenesis of kidney, the dystroglycan complex is shown to act as a receptor for the basement membrane. Dystroglycan expression in Mus musculus brain and neural retina has also been reported. However, the physiological role of dystroglycan in non-muscle tissues has remained unclear

See also

External links

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Proteins of the cytoskeleton
MicrofilamentsActins - Actin-binding proteins - Actinin - Arp2/3 complex - Cofilin - Destrin - Gelsolin - Myosins - Profilin - Tropomodulin - Troponin (T, C, I) - Tropomyosin - Wiskott-Aldrich syndrome protein
Intermediate filamentstype 1 and 2 (Cytokeratin, type I, type II) - type 3 (Desmin, GFAP, Peripherin, Vimentin) - type 4 (Internexin, Nestin, Neurofilament, Synemin, Syncoilin) - type 5 (Lamin A, B)
MicrotubulesDyneins - Kinesins - MAPs (Tau protein, Dynamin) - Tubulins - Stathmin
CateninsAlpha catenin - Beta catenin - Plakoglobin (gamma catenin) - Delta catenin
NonhumanMajor sperm proteins - Prokaryotic cytoskeleton (Crescentin, FtsZ, MreB)
OtherAPC - Dystrophin (Dystroglycan) - plakin (Desmoplakin, Plectin) - Spectrin - Talin - Utrophin - Vinculin
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Histology: muscle tissue
skeletal muscle/generalepimysium, fascicle, perimysium, endomysium, muscle fiber (intrafusal, extrafusal), myofibril sarcomere (a, i, and h bands; z and m lines), myofilaments (thin filament/actin, thick filament/myosin, elastic filament/titin, nebulin), tropomyosin, troponin (T, C, I) costamere (dystrophin, α,β-dystrobrevin, syncoilin, synemin/desmuslin, dysbindin, sarcoglycan, dystroglycan, sarcospan), desmin neuromuscular junction, motor unit, muscle spindle, excitation-contraction coupling, sliding filament mechanism myoblast, satellite cell, sarcoplasm, sarcolemma, sarcoplasmic reticulum, T-tubule
cardiac musclemyocardium, intercalated disc, nebulette
smooth musclecalmodulin, vascular smooth muscle
The Entrez Global Query Cross-Database Search System is a powerful federated search engine, or web portal that allows users to search many discrete health sciences databases at the National Center for Biotechnology Information (NCBI) website.
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Hugo is a male given name, a latinized form of the name Hugh, a German/Teutonic name meaning "Bright in Mind and Spirit".

Hugo is one of the most popular names in Europe ranking as high as #2 in France, #6 in Spain, and #7 in Belgium in 2006.
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The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health. The NCBI is located in Bethesda, Maryland and was founded in 1988.
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Swiss-Prot is a manually curated biological database of protein sequences. Swiss-Prot was created in 1986 by Amos Bairoch during his PhD and developed by the Swiss Institute of Bioinformatics and the European Bioinformatics Institute.
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locus (plural loci) is a fixed position on a chromosome, such as the position of a gene or a biomarker (genetic marker). A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map.
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Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane.
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Glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbones. Basically, glycoprotein is a biomolecule composed of a protein and a carbohydrate (an oligosaccharide).
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Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs (the building material of DNA) and represents about 6.5 percent of the total DNA in cells.
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An exon is any region of DNA within a gene that is transcribed to the final messenger RNA (mRNA) molecule, rather than being spliced out from the transcribed RNA molecule. Exons of many eukaryotic genes interleave with segments of non-coding DNA (introns).
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Introns, derived from the term "Intervening Sequences", are non-coding sections of DNA. Once this DNA section has been transcribed as a pre-mRNA sequence, the introns will be spliced out, then the mRNA will be translated into a protein.
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A transmembrane protein is a protein that spans the entire biological membrane. Transmembrane proteins aggregate and precipitate in water. They require detergents or nonpolar solvents for extraction, although some of them (beta-barrels) can be also extracted using denaturing agents.
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cytoskeleton is a cellular "scaffolding" or "skeleton" contained, as all other organelles, within the cytoplasm. It is contained in all eukaryotic cells and recent research has shown it can be present in prokaryotic cells too.
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MeSH D020388 Duchenne muscular dystrophy (DMD) (also known as muscular dystrophy - Duchenne type) is an eventually fatal disorder that is characterized by rapidly progressive muscle weakness and atrophy of muscle tissue.
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Actin is a globular structural, 42-47 kDa protein found in many eukaryotic cells, with concentrations of over 100 μM. It is also one of the most highly conserved proteins, differing by no more than 5% in species as diverse as algae and humans.
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Agrin is a large proteoglycan whose best characterised role is in the development of the neuromuscular junction during embryogenesis. Agrin is named based on its involvement in the aggregation of acetylcholine receptors during synaptogenesis.
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The chemical compound acetylcholine, often abbreviated as ACh, was the first neurotransmitter to be identified. It is a chemical transmitter in both the peripheral nervous system (PNS) and central nervous system (CNS) in many organisms including humans.
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Grb2 is an adaptor protein involved in signal transduction/cell communication. The name Grb2 is an abbreviation of Growth factor receptor-bound protein 2.

The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two
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RAS may refer to:
  • Royal Asiatic Society of Great Britain and Ireland, a society to further study into topics relating to science, literature, and the arts in relation to Asia
  • RAS Records, a reggae record label

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MeSH D020388 Duchenne muscular dystrophy (DMD) (also known as muscular dystrophy - Duchenne type) is an eventually fatal disorder that is characterized by rapidly progressive muscle weakness and atrophy of muscle tissue.
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Becker's muscular dystrophy (also known as Benign pseudohypertrophic muscular dystrophy) is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis.
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This is a list of actin-binding proteins in alphabetical order.
List: 0–9 A B C D E F G H I J K L M N O P Q R S T U V W x Y Z
References  External links

0–9

  • 25kDa
  • 25kDa ABP from aorta p185neu

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Agrin is a large proteoglycan whose best characterised role is in the development of the neuromuscular junction during embryogenesis. Agrin is named based on its involvement in the aggregation of acetylcholine receptors during synaptogenesis.
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Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed
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Proteins are large organic compounds made of amino acids arranged in a linear chain and joined together by peptide bonds between the carboxyl and amino groups of adjacent amino acid residues.
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cytoskeleton is a cellular "scaffolding" or "skeleton" contained, as all other organelles, within the cytoplasm. It is contained in all eukaryotic cells and recent research has shown it can be present in prokaryotic cells too.
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Microfilaments are the thinnest filaments of the cytoskeleton found in the cytoplasm of all eukaryotic cells. These linear polymers of actin subunits are flexible and relatively strong, resisting buckling by multi-piconewton compressive forces and filament fracture by nanonewton
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Actin is a globular structural, 42-47 kDa protein found in many eukaryotic cells, with concentrations of over 100 μM. It is also one of the most highly conserved proteins, differing by no more than 5% in species as diverse as algae and humans.
..... Click the link for more information.
This is a list of actin-binding proteins in alphabetical order.
List: 0–9 A B C D E F G H I J K L M N O P Q R S T U V W x Y Z
References  External links

0–9

  • 25kDa
  • 25kDa ABP from aorta p185neu

..... Click the link for more information.
Actinin is a microfilament protein. α-Actinin is necessary for the attachment of actin filaments to the z-line membrane, in muscle cells. The functional protein is an anti-parallel dimer, which cross-links the thin filaments in adjacent sarcomeres, and therefore coordinated
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Arp2/3 complex is a seven-subunit protein that plays a major role in the regulation of the actin cytoskeleton. It is a necessary component of the actin cytoskeleton and is therefore ubiquitous in actin cytoskeleton-containing eukaryotic cells.[1].
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