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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes FDA approved drug targets Human disease related genes Plasma proteins Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
X
Cytoband
Chromosome location (bp)
31097677 - 33339609
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Actin-binding
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
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GO:0001954[positive regulation of cell-matrix adhesion] GO:0002027[regulation of heart rate] GO:0003779[actin binding] GO:0005178[integrin binding] GO:0005515[protein binding] GO:0005521[lamin binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005741[mitochondrial outer membrane] GO:0005794[Golgi apparatus] GO:0005840[ribosome] GO:0005856[cytoskeleton] GO:0005883[neurofilament] GO:0005886[plasma membrane] GO:0006355[regulation of DNA-templated transcription] GO:0007517[muscle organ development] GO:0007519[skeletal muscle tissue development] GO:0007568[aging] GO:0008065[establishment of blood-nerve barrier] GO:0008104[protein localization] GO:0008270[zinc ion binding] GO:0008284[positive regulation of cell population proliferation] GO:0009414[response to water deprivation] 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:0010976[positive regulation of neuron projection development] GO:0014069[postsynaptic density] GO:0014809[regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819[regulation of skeletal muscle contraction] GO:0014894[response to denervation involved in regulation of muscle adaptation] GO:0014904[myotube cell development] GO:0016010[dystrophin-associated glycoprotein complex] GO:0016020[membrane] GO:0021629[olfactory nerve structural organization] GO:0021987[cerebral cortex development] GO:0030016[myofibril] GO:0030018[Z disc] GO:0030027[lamellipodium] GO:0030054[cell junction] GO:0030055[cell-substrate junction] GO:0030141[secretory granule] GO:0030154[cell differentiation] GO:0030165[PDZ domain binding] GO:0030182[neuron differentiation] GO:0030424[axon] GO:0030672[synaptic vesicle membrane] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0035994[response to muscle stretch] GO:0042383[sarcolemma] GO:0042391[regulation of membrane potential] GO:0042692[muscle cell differentiation] GO:0042995[cell projection] GO:0043005[neuron projection] GO:0043025[neuronal cell body] GO:0043403[skeletal muscle tissue regeneration] GO:0044306[neuron projection terminus] GO:0044877[protein-containing complex binding] GO:0045121[membrane raft] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0045213[neurotransmitter receptor metabolic process] GO:0045665[negative regulation of neuron differentiation] GO:0045666[positive regulation of neuron differentiation] GO:0046716[muscle cell cellular homeostasis] GO:0046872[metal ion binding] GO:0048471[perinuclear region of cytoplasm] GO:0048812[neuron projection morphogenesis] GO:0050998[nitric-oxide synthase binding] GO:0051647[nucleus localization] GO:0051726[regulation of cell cycle] GO:0055001[muscle cell development] GO:0060314[regulation of ryanodine-sensitive calcium-release channel activity] GO:0060857[establishment of glial blood-brain barrier] GO:0065003[protein-containing complex assembly] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0071944[cell periphery] GO:0086001[cardiac muscle cell action potential] GO:0090287[regulation of cellular response to growth factor stimulus] GO:0097449[astrocyte projection] GO:0099572[postsynaptic specialization] GO:0099617[matrix side of mitochondrial inner membrane] GO:0120025[plasma membrane bounded cell projection] 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 Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes FDA approved drug targets Biotech drugs Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Mapped to neXtProt neXtProt - Evidence at protein level 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:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0007517[muscle organ development] GO:0007519[skeletal muscle tissue development] GO:0008104[protein localization] 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:0016020[membrane] GO:0016328[lateral plasma membrane] GO:0017022[myosin binding] GO:0017166[vinculin binding] GO:0030018[Z disc] GO:0030036[actin cytoskeleton organization] GO:0030054[cell junction] GO:0030055[cell-substrate junction] GO:0030175[filopodium] GO:0030864[cortical actin cytoskeleton] GO:0031527[filopodium membrane] GO:0032991[protein-containing complex] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0035633[maintenance of blood-brain barrier] GO:0035994[response to muscle stretch] GO:0042383[sarcolemma] GO:0042995[cell projection] GO:0043034[costamere] GO:0043043[peptide biosynthetic process] 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:0046872[metal ion binding] GO:0048666[neuron development] GO:0050998[nitric-oxide synthase binding] GO:0051015[actin filament binding] GO:0055001[muscle cell development] GO:0060048[cardiac muscle contraction] GO:0060314[regulation of ryanodine-sensitive calcium-release channel activity] GO:0065003[protein-containing complex assembly] GO:0071944[cell periphery] GO:0086001[cardiac muscle cell action potential] GO:0090257[regulation of muscle system process] GO:0090287[regulation of cellular response to growth factor stimulus] GO:0120025[plasma membrane bounded cell projection] 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 Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
B4DSV7 [Target identity:100%; Query identity:100%] Dystrophin isoform 4; 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 Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes FDA approved drug targets Biotech drugs Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Mapped to neXtProt neXtProt - Evidence at protein level 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:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0007517[muscle organ development] GO:0007519[skeletal muscle tissue development] GO:0008104[protein localization] 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:0014809[regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819[regulation of skeletal muscle contraction] GO:0016010[dystrophin-associated glycoprotein complex] GO:0016013[syntrophin complex] GO:0016020[membrane] GO:0016328[lateral plasma membrane] GO:0017022[myosin binding] GO:0017166[vinculin binding] GO:0030018[Z disc] GO:0030036[actin cytoskeleton organization] GO:0030054[cell junction] GO:0030055[cell-substrate junction] GO:0030175[filopodium] GO:0030864[cortical actin cytoskeleton] GO:0031527[filopodium membrane] GO:0032991[protein-containing complex] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0035633[maintenance of blood-brain barrier] GO:0035994[response to muscle stretch] GO:0042383[sarcolemma] GO:0042995[cell projection] GO:0043034[costamere] GO:0043043[peptide biosynthetic process] GO:0044306[neuron projection terminus] GO:0045121[membrane raft] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0046716[muscle cell cellular homeostasis] GO:0046872[metal ion binding] GO:0048666[neuron development] GO:0050998[nitric-oxide synthase binding] GO:0051015[actin filament binding] GO:0055001[muscle cell development] GO:0060048[cardiac muscle contraction] GO:0060314[regulation of ryanodine-sensitive calcium-release channel activity] GO:0065003[protein-containing complex assembly] GO:0071944[cell periphery] GO:0086001[cardiac muscle cell action potential] GO:0090257[regulation of muscle system process] GO:0120025[plasma membrane bounded cell projection] 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 Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes FDA approved drug targets Biotech drugs Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Mapped to neXtProt neXtProt - Evidence at protein level 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:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0007517[muscle organ development] GO:0007519[skeletal muscle tissue development] GO:0008104[protein localization] 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:0014809[regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819[regulation of skeletal muscle contraction] GO:0016010[dystrophin-associated glycoprotein complex] GO:0016013[syntrophin complex] GO:0016020[membrane] GO:0016328[lateral plasma membrane] GO:0017022[myosin binding] GO:0017166[vinculin binding] GO:0030018[Z disc] GO:0030036[actin cytoskeleton organization] GO:0030054[cell junction] GO:0030055[cell-substrate junction] GO:0030175[filopodium] GO:0030864[cortical actin cytoskeleton] GO:0031527[filopodium membrane] GO:0032991[protein-containing complex] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0035633[maintenance of blood-brain barrier] GO:0035994[response to muscle stretch] GO:0042383[sarcolemma] GO:0042995[cell projection] GO:0043034[costamere] GO:0043043[peptide biosynthetic process] GO:0044306[neuron projection terminus] GO:0045121[membrane raft] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0046716[muscle cell cellular homeostasis] GO:0046872[metal ion binding] GO:0048666[neuron development] GO:0050998[nitric-oxide synthase binding] GO:0051015[actin filament binding] GO:0055001[muscle cell development] GO:0060048[cardiac muscle contraction] GO:0060314[regulation of ryanodine-sensitive calcium-release channel activity] GO:0065003[protein-containing complex assembly] GO:0071944[cell periphery] GO:0086001[cardiac muscle cell action potential] GO:0090257[regulation of muscle system process] GO:0120025[plasma membrane bounded cell projection] 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 Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes FDA approved drug targets Biotech drugs Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) 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:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0007517[muscle organ development] GO:0007519[skeletal muscle tissue development] GO:0008104[protein localization] 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:0014809[regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819[regulation of skeletal muscle contraction] GO:0016010[dystrophin-associated glycoprotein complex] GO:0016013[syntrophin complex] GO:0016020[membrane] GO:0016328[lateral plasma membrane] GO:0017022[myosin binding] GO:0017166[vinculin binding] GO:0030018[Z disc] GO:0030036[actin cytoskeleton organization] GO:0030054[cell junction] GO:0030055[cell-substrate junction] GO:0030175[filopodium] GO:0030864[cortical actin cytoskeleton] GO:0031527[filopodium membrane] GO:0032991[protein-containing complex] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0035633[maintenance of blood-brain barrier] GO:0035994[response to muscle stretch] GO:0042383[sarcolemma] GO:0042995[cell projection] GO:0043034[costamere] GO:0043043[peptide biosynthetic process] GO:0044306[neuron projection terminus] GO:0045121[membrane raft] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0046716[muscle cell cellular homeostasis] GO:0046872[metal ion binding] GO:0048666[neuron development] GO:0050998[nitric-oxide synthase binding] GO:0051015[actin filament binding] GO:0055001[muscle cell development] GO:0060048[cardiac muscle contraction] GO:0060314[regulation of ryanodine-sensitive calcium-release channel activity] GO:0065003[protein-containing complex assembly] GO:0071944[cell periphery] GO:0086001[cardiac muscle cell action potential] GO:0090257[regulation of muscle system process] GO:0120025[plasma membrane bounded cell projection] 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 Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
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GO:0005975[carbohydrate metabolic process] GO:0016810[hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes FDA approved drug targets Biotech drugs Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Mapped to neXtProt neXtProt - Evidence at protein level 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:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0007517[muscle organ development] GO:0007519[skeletal muscle tissue development] GO:0008104[protein localization] 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:0014809[regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819[regulation of skeletal muscle contraction] GO:0016010[dystrophin-associated glycoprotein complex] GO:0016013[syntrophin complex] GO:0016020[membrane] GO:0016328[lateral plasma membrane] GO:0017022[myosin binding] GO:0017166[vinculin binding] GO:0030018[Z disc] GO:0030036[actin cytoskeleton organization] GO:0030054[cell junction] GO:0030055[cell-substrate junction] GO:0030175[filopodium] GO:0030864[cortical actin cytoskeleton] GO:0031527[filopodium membrane] GO:0032991[protein-containing complex] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0035633[maintenance of blood-brain barrier] GO:0035994[response to muscle stretch] GO:0042383[sarcolemma] GO:0042995[cell projection] GO:0043034[costamere] GO:0043043[peptide biosynthetic process] GO:0044306[neuron projection terminus] GO:0045121[membrane raft] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0046716[muscle cell cellular homeostasis] GO:0046872[metal ion binding] GO:0048666[neuron development] GO:0050998[nitric-oxide synthase binding] GO:0051015[actin filament binding] GO:0055001[muscle cell development] GO:0060048[cardiac muscle contraction] GO:0060314[regulation of ryanodine-sensitive calcium-release channel activity] GO:0065003[protein-containing complex assembly] GO:0071944[cell periphery] GO:0086001[cardiac muscle cell action potential] GO:0090257[regulation of muscle system process] GO:0120025[plasma membrane bounded cell projection] 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 Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Cardiovascular diseases Cardiac diseases Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)