Dystrophin

DMD
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1DXX, 1EG3, 1EG4, 3UUN
Identifiers
Aliases	DMD, BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85, dystrophin
External IDs	OMIM: 300377; MGI: 94909; HomoloGene: 20856; GeneCards: DMD; OMA:DMD - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp21.2-p21.1 Start 31,097,677 bp[1] End 33,339,609 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X C1|X 38.38 cM Start 81,992,476 bp[2] End 84,249,747 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in trigeminal ganglion Skeletal muscle tissue of rectus abdominis spinal ganglia seminal vesicula sural nerve biceps brachii vastus lateralis muscle Skeletal muscle tissue of biceps brachii endothelial cell saphenous vein Top expressed in ascending aorta pineal gland aortic valve temporal muscle gastrula tunica media of zone of aorta sternocleidomastoid muscle muscle of thigh digastric muscle triceps brachii muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nitric-oxide synthase binding dystroglycan binding vinculin binding myosin binding zinc ion binding metal ion binding protein binding actin binding structural constituent of muscle structural constituent of cytoskeleton Cellular component cytoplasm cytosol postsynaptic membrane lateral plasma membrane membrane filopodium cell-substrate junction plasma membrane synapse dystrophin-associated glycoprotein complex cell surface cell junction Z disc actin cytoskeleton membrane raft sarcolemma costamere syntrophin complex neuron projection terminus cytoskeleton nucleus filopodium membrane protein-containing complex Biological process response to muscle stretch regulation of ryanodine-sensitive calcium-release channel activity cardiac muscle cell action potential regulation of voltage-gated calcium channel activity cardiac muscle contraction muscle cell cellular homeostasis negative regulation of peptidyl-cysteine S-nitrosylation regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion peptide biosynthetic process muscle organ development regulation of heart rate positive regulation of neuron differentiation negative regulation of peptidyl-serine phosphorylation positive regulation of neuron projection development muscle filament sliding positive regulation of sodium ion transmembrane transporter activity regulation of cellular response to growth factor stimulus regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum motile cilium assembly regulation of skeletal muscle contraction regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1756 13405 Ensembl ENSG00000198947 ENSMUSG00000045103 UniProt P11532 P11531 RefSeq (mRNA) NM_000109 NM_004006 NM_004007 NM_004009 NM_004010 NM_004011 NM_004012 NM_004013 NM_004014 NM_004015 NM_004016 NM_004017 NM_004018 NM_004019 NM_004020 NM_004021 NM_004022 NM_004023 NM_007868 NM_001314034 NM_001314035 NM_001314036 NM_001314037 NM_001314038 RefSeq (protein) NP_000100 NP_003997 NP_004000 NP_004001 NP_004002 NP_004003 NP_004004 NP_004005 NP_004006 NP_004007 NP_004008 NP_004009 NP_004010 NP_004011 NP_004012 NP_004013 NP_004014 NP_001300963 NP_001300964 NP_001300965 NP_001300966 NP_001300967 NP_031894 Location (UCSC) Chr X: 31.1 – 33.34 Mb Chr X: 81.99 – 84.25 Mb PubMed search [3] [4]
Wikidata
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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. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa ^[5][6]

Dystrophin is coded for by the DMD gene – the largest known human gene, covering 2.4 megabases (0.08% of the human genome) at locus Xp21. The primary transcript in muscle measures about 2,100 kilobases and takes 16 hours to transcribe;^[7] the mature mRNA measures 14.0 kilobases.^[8] The 79-exon muscle transcript^[9] codes for a protein of 3685 amino acid residues.^[10]

Spontaneous or inherited mutations in the dystrophin gene can cause different forms of muscular dystrophy, a disease characterized by progressive muscular wasting. The most common of these disorders caused by genetic defects in dystrophin is Duchenne muscular dystrophy.