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The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001954 [positive regulation of cell-matrix adhesion] GO:0002162 [dystroglycan binding] GO:0003779 [actin binding] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0006355 [regulation of transcription, DNA-templated] GO:0007517 [muscle organ development] GO:0007519 [skeletal muscle tissue development] GO:0008065 [establishment of blood-nerve barrier] GO:0008270 [zinc ion binding] GO:0010468 [regulation of gene expression] GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819 [regulation of skeletal muscle contraction] GO:0014904 [myotube cell development] GO:0016203 [muscle attachment] GO:0021629 [olfactory nerve structural organization] GO:0030018 [Z disc] GO:0030054 [cell junction] GO:0030055 [cell-substrate junction] GO:0033137 [negative regulation of peptidyl-serine phosphorylation] GO:0035994 [response to muscle stretch] GO:0042391 [regulation of membrane potential] GO:0043623 [cellular protein complex assembly] GO:0044306 [neuron projection terminus] GO:0045121 [membrane raft] GO:0045202 [synapse] GO:0045213 [neurotransmitter receptor metabolic process] GO:0046716 [muscle cell cellular homeostasis] GO:0048747 [muscle fiber development] GO:0050998 [nitric-oxide synthase binding] GO:0051647 [nucleus localization] GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity] GO:0060857 [establishment of glial blood-brain barrier] GO:0070373 [negative regulation of ERK1 and ERK2 cascade] GO:0086001 [cardiac muscle cell action potential] GO:1901385 [regulation of voltage-gated calcium channel activity] GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation] GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002027 [regulation of heart rate] GO:0002162 [dystroglycan binding] GO:0003779 [actin binding] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007517 [muscle organ development] GO:0008270 [zinc ion binding] GO:0008307 [structural constituent of muscle] GO:0009986 [cell surface] GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0010976 [positive regulation of neuron projection development] GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819 [regulation of skeletal muscle contraction] GO:0015629 [actin cytoskeleton] GO:0016010 [dystrophin-associated glycoprotein complex] GO:0016013 [syntrophin complex] GO:0016203 [muscle attachment] GO:0016328 [lateral plasma membrane] GO:0017022 [myosin binding] GO:0017166 [vinculin binding] GO:0030018 [Z disc] GO:0030049 [muscle filament sliding] GO:0030055 [cell-substrate junction] GO:0030175 [filopodium] GO:0030198 [extracellular matrix organization] GO:0031527 [filopodium membrane] GO:0033137 [negative regulation of peptidyl-serine phosphorylation] GO:0034613 [cellular protein localization] GO:0035994 [response to muscle stretch] GO:0042383 [sarcolemma] GO:0043034 [costamere] GO:0043043 [peptide biosynthetic process] GO:0043234 [protein complex] GO:0043623 [cellular protein complex assembly] GO:0044306 [neuron projection terminus] GO:0044458 [motile cilium assembly] GO:0045121 [membrane raft] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0045666 [positive regulation of neuron differentiation] GO:0046716 [muscle cell cellular homeostasis] GO:0048747 [muscle fiber development] GO:0050998 [nitric-oxide synthase binding] GO:0060048 [cardiac muscle contraction] GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity] GO:0086001 [cardiac muscle cell action potential] GO:0090287 [regulation of cellular response to growth factor stimulus] GO:1901385 [regulation of voltage-gated calcium channel activity] GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation] GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002027 [regulation of heart rate] GO:0002162 [dystroglycan binding] GO:0003779 [actin binding] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007517 [muscle organ development] GO:0008270 [zinc ion binding] GO:0008307 [structural constituent of muscle] GO:0009986 [cell surface] GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0010976 [positive regulation of neuron projection development] GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819 [regulation of skeletal muscle contraction] GO:0015629 [actin cytoskeleton] GO:0016010 [dystrophin-associated glycoprotein complex] GO:0016013 [syntrophin complex] GO:0016203 [muscle attachment] GO:0016328 [lateral plasma membrane] GO:0017022 [myosin binding] GO:0017166 [vinculin binding] GO:0030018 [Z disc] GO:0030049 [muscle filament sliding] GO:0030055 [cell-substrate junction] GO:0030175 [filopodium] GO:0030198 [extracellular matrix organization] GO:0031527 [filopodium membrane] GO:0033137 [negative regulation of peptidyl-serine phosphorylation] GO:0034613 [cellular protein localization] GO:0035994 [response to muscle stretch] GO:0042383 [sarcolemma] GO:0043034 [costamere] GO:0043043 [peptide biosynthetic process] GO:0043234 [protein complex] GO:0043623 [cellular protein complex assembly] GO:0044306 [neuron projection terminus] GO:0044458 [motile cilium assembly] GO:0045121 [membrane raft] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0045666 [positive regulation of neuron differentiation] GO:0046716 [muscle cell cellular homeostasis] GO:0048747 [muscle fiber development] GO:0050998 [nitric-oxide synthase binding] GO:0060048 [cardiac muscle contraction] GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity] GO:0086001 [cardiac muscle cell action potential] GO:0090287 [regulation of cellular response to growth factor stimulus] GO:1901385 [regulation of voltage-gated calcium channel activity] GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation] GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002027 [regulation of heart rate] GO:0002162 [dystroglycan binding] GO:0003779 [actin binding] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007517 [muscle organ development] GO:0008270 [zinc ion binding] GO:0008307 [structural constituent of muscle] GO:0009986 [cell surface] GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0010976 [positive regulation of neuron projection development] GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819 [regulation of skeletal muscle contraction] GO:0015629 [actin cytoskeleton] GO:0016010 [dystrophin-associated glycoprotein complex] GO:0016013 [syntrophin complex] GO:0016203 [muscle attachment] GO:0016328 [lateral plasma membrane] GO:0017022 [myosin binding] GO:0017166 [vinculin binding] GO:0030018 [Z disc] GO:0030049 [muscle filament sliding] GO:0030055 [cell-substrate junction] GO:0030175 [filopodium] GO:0030198 [extracellular matrix organization] GO:0031527 [filopodium membrane] GO:0033137 [negative regulation of peptidyl-serine phosphorylation] GO:0034613 [cellular protein localization] GO:0035994 [response to muscle stretch] GO:0042383 [sarcolemma] GO:0043034 [costamere] GO:0043043 [peptide biosynthetic process] GO:0043234 [protein complex] GO:0043623 [cellular protein complex assembly] GO:0044306 [neuron projection terminus] GO:0044458 [motile cilium assembly] GO:0045121 [membrane raft] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0045666 [positive regulation of neuron differentiation] GO:0046716 [muscle cell cellular homeostasis] GO:0048747 [muscle fiber development] GO:0050998 [nitric-oxide synthase binding] GO:0060048 [cardiac muscle contraction] GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity] GO:0086001 [cardiac muscle cell action potential] GO:0090287 [regulation of cellular response to growth factor stimulus] GO:1901385 [regulation of voltage-gated calcium channel activity] GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation] GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
P11532 [Direct mapping] Dystrophin B4DSV7 [Target identity:100%; Query identity:100%] cDNA FLJ60143, highly similar to Homo sapiens dystrophin, transcript variant Dp140bc, mRNA
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Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027 [regulation of heart rate] GO:0002162 [dystroglycan binding] GO:0003779 [actin binding] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007517 [muscle organ development] GO:0008270 [zinc ion binding] GO:0008307 [structural constituent of muscle] GO:0009986 [cell surface] GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0010976 [positive regulation of neuron projection development] GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819 [regulation of skeletal muscle contraction] GO:0015629 [actin cytoskeleton] GO:0016010 [dystrophin-associated glycoprotein complex] GO:0016013 [syntrophin complex] GO:0016203 [muscle attachment] GO:0016328 [lateral plasma membrane] GO:0017022 [myosin binding] GO:0017166 [vinculin binding] GO:0030018 [Z disc] GO:0030049 [muscle filament sliding] GO:0030055 [cell-substrate junction] GO:0030175 [filopodium] GO:0030198 [extracellular matrix organization] GO:0031527 [filopodium membrane] GO:0033137 [negative regulation of peptidyl-serine phosphorylation] GO:0034613 [cellular protein localization] GO:0035994 [response to muscle stretch] GO:0042383 [sarcolemma] GO:0043034 [costamere] GO:0043043 [peptide biosynthetic process] GO:0043234 [protein complex] GO:0043623 [cellular protein complex assembly] GO:0044306 [neuron projection terminus] GO:0044458 [motile cilium assembly] GO:0045121 [membrane raft] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0045666 [positive regulation of neuron differentiation] GO:0046716 [muscle cell cellular homeostasis] GO:0048747 [muscle fiber development] GO:0050998 [nitric-oxide synthase binding] GO:0060048 [cardiac muscle contraction] GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity] GO:0086001 [cardiac muscle cell action potential] GO:0090287 [regulation of cellular response to growth factor stimulus] GO:1901385 [regulation of voltage-gated calcium channel activity] GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation] GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)