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.
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of mouse Ortholog: X C1|X 38.38 cM
Cellular Component:  astrocyte projection; axon; cell junction; cell projection; cell surface; cell-substrate junction; costamere; cytoplasm; cytoskeleton; dystrophin-associated glycoprotein complex; filopodium; filopodium membrane; lamellipodium; matrix side of mitochondrial inner membrane; membrane; membrane raft; mitochondrial outer membrane; myofibril; neurofilament; neuron projection terminus; neuronal cell body; nucleus; perinuclear region of cytoplasm; plasma membrane; postsynaptic density; postsynaptic membrane; postsynaptic specialization; protein-containing complex; ribosome; sarcolemma; secretory granule; synapse; synaptic vesicle membrane; Z disc
Molecular Function:  actin binding; dystroglycan binding; integrin binding; lamin binding; metal ion binding; myosin binding; nitric-oxide synthase binding; PDZ domain binding; protein binding; protein-containing complex binding; structural constituent of muscle; vinculin binding; zinc ion binding
Biological Process:  bone development; cardiac muscle cell action potential; cardiac muscle contraction; connective tissue development; determination of adult lifespan; establishment of blood-nerve barrier; establishment of glial blood-brain barrier; gene expression; limb development; multicellular organism growth; multicellular organism reproduction; muscle cell cellular homeostasis; muscle cell development; muscle organ development; myotube cell development; negative regulation of ERK1 and ERK2 cascade; negative regulation of neuron differentiation; negative regulation of peptidyl-cysteine S-nitrosylation; negative regulation of peptidyl-serine phosphorylation; neuron development; neuron projection morphogenesis; neurotransmitter receptor metabolic process; nucleus localization; olfactory nerve structural organization; peptide biosynthetic process; positive regulation of cell population proliferation; positive regulation of cell-matrix adhesion; positive regulation of neuron differentiation; positive regulation of neuron projection development; positive regulation of sodium ion transmembrane transporter activity; protein localization; protein-containing complex assembly; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; regulation of cellular response to growth factor stimulus; regulation of DNA-templated transcription; regulation of gene expression; regulation of heart rate; regulation of membrane potential; regulation of muscle system process; 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; skeletal muscle tissue development; skeletal muscle tissue regeneration; striated muscle cell development; striated muscle contraction; synaptic signaling; walking behavior
Reference #:  P11531 (UniProtKB)
Alt. Names/Synonyms: Dmd; Dp42; Dp427; Dp7; Dp71; Duchenne muscular dystrophy; DXSmh7; DXSmh9; dys; Dystrophin; dystrophin Dp71; dystrophin Dp71d(delta71,73-74); dystrophin, muscular dystrophy; mdx; OTTMUSP00000019485; pke; X-linked muscular dystrophy
Gene Symbols: Dmd
Molecular weight: 425,832 Da
Basal Isoelectric point: 5.66  Predict pI for various phosphorylation states
Select Structure to View Below

dystrophin

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene