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dystrophin
Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Isoform 5 is expressed in heart, brain, liver, testis and hepatoma cells. Most tissues contain transcripts of multiple isoforms, however only isoform 5 is detected in heart and liver. 10 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Cytoskeletal; Motility/polarity/chemotaxis |
| Chromosomal Location of Human Ortholog: Xp21.2-p21.1 |
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Cellular Component:
cell surface; cell-substrate junction; costamere; cytoskeleton; cytosol; dystrophin-associated glycoprotein complex; filopodium; filopodium membrane; membrane raft; neuron projection terminus; postsynaptic membrane; protein-containing complex; sarcolemma; synapse; syntrophin complex; Z disc
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Molecular Function:
actin binding; dystroglycan binding; myosin binding; nitric-oxide synthase binding; protein binding; structural constituent of cytoskeleton; structural constituent of muscle; vinculin binding; zinc ion binding
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Biological Process:
cardiac muscle cell action potential; cardiac muscle contraction; cellular protein localization; cellular protein-containing complex assembly; cytoskeleton organization; muscle cell cellular homeostasis; muscle fiber development; muscle filament sliding; muscle organ development; negative regulation of peptidyl-cysteine S-nitrosylation; negative regulation of peptidyl-serine phosphorylation; peptide biosynthetic process; positive regulation of sodium ion transmembrane transporter activity; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; regulation of heart rate; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; regulation of ryanodine-sensitive calcium-release channel activity; regulation of skeletal muscle contraction; regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion; regulation of voltage-gated calcium channel activity; response to muscle stretch
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Disease: Cardiomyopathy, Dilated, 3b; Muscular Dystrophy, Becker Type; Muscular Dystrophy, Duchenne Type
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Reference #:
P11532
(UniProtKB)
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Alt. Names/Synonyms: BMD; CMD3B; DMD; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; Dystrophin; MRX85; truncated dystrophin
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Gene Symbols: DMD
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Molecular weight:
426,750 Da
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Basal Isoelectric point:
5.64
Predict pI for various phosphorylation states
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