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 Human Ortholog: X C1|X 38.38 cM
Cellular Component:  cell junction; cell surface; cell-substrate junction; costamere; cytoplasm; cytoskeleton; dystrophin-associated glycoprotein complex; filopodium; filopodium membrane; membrane; membrane raft; neuron projection terminus; nucleus; plasma membrane; postsynaptic membrane; protein-containing complex; sarcolemma; synapse; Z disc
Molecular Function:  actin binding; dystroglycan binding; metal ion binding; myosin binding; nitric-oxide synthase binding; protein binding; structural constituent of muscle; vinculin binding; zinc ion binding
Biological Process:  cardiac muscle cell action potential; cardiac muscle contraction; cellular protein localization; cellular protein-containing complex assembly; establishment of blood-nerve barrier; establishment of glial blood-brain barrier; muscle cell cellular homeostasis; muscle fiber development; muscle organ development; myotube cell development; negative regulation of ERK1 and ERK2 cascade; negative regulation of peptidyl-cysteine S-nitrosylation; negative regulation of peptidyl-serine phosphorylation; neurotransmitter receptor metabolic process; nucleus localization; olfactory nerve structural organization; peptide biosynthetic process; 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; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; regulation of cellular response to growth factor stimulus; regulation of gene expression; regulation of heart rate; regulation of membrane potential; 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 transcription, DNA-templated; regulation of voltage-gated calcium channel activity; response to muscle stretch; skeletal muscle tissue development
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