Protein detail
DMD
Dystrophin
Protein symbol DMD | UniProt ID | EVMP score 0.38 |
Frequency | Transmembrane count | Protein classification Cancer-related genesDisease related genesFDA approved drug targetsHuman disease related genesPlasma proteinsPredicted intracellular proteinsTransporters |
Basic Information
Protein Names
Dystrophin
Protein Class
Cancer-related genesDisease related genesFDA approved drug targetsHuman disease related genesPlasma proteinsPredicted intracellular proteinsTransporters
Protein Function
- Cancer-related genes:Mutational cancer driver genes
- Predicted intracellular proteins
- Human disease related genes:Musculoskeletal diseases:Muscular diseases
- Transporters:Accessory Factors Involved in Transport
- Disease related genes
- Human disease related genes:Cardiovascular diseases:Cardiac diseases
- FDA approved drug targets:Biotech drugs
Ensembl
Entrez Gene Symbol
Gene Synonym
BMDDXS142DXS164DXS206DXS230DXS239DXS268DXS269DXS270DXS272MRX85
Gene Description
Dystrophin
Chromosome
X
Position
31097677-33339609
EVMP Score
0.38
Fluorescence & Localization
Tissue SpecificgallbladderCell SpecificAdrenal cortex cellsSingle-Nuclei Brain Specificcentral nervous system macrophageBlood Cell Specificbasophil
Function & Pathway
Protein Function
- Cancer-related genes:Mutational cancer driver genes
- Predicted intracellular proteins
- Human disease related genes:Musculoskeletal diseases:Muscular diseases
- Transporters:Accessory Factors Involved in Transport
- Disease related genes
- Human disease related genes:Cardiovascular diseases:Cardiac diseases
- FDA approved drug targets:Biotech drugs
Cellular Component
- GO:0005634 nucleus
- GO:0005829 cytosol
- GO:0005856 cytoskeleton
- GO:0005886 plasma membrane
- GO:0009986 cell surface
- GO:0015629 actin cytoskeleton
- GO:0016010 dystrophin-associated glycoprotein complex
- GO:0016013 syntrophin complex
- GO:0016328 lateral plasma membrane
- GO:0030018 Z disc
- GO:0030055 cell-substrate junction
- GO:0030175 filopodium
- GO:0031527 filopodium membrane
- GO:0032991 protein-containing complex
- GO:0042383 sarcolemma
- GO:0043034 costamere
- GO:0044306 neuron projection terminus
- GO:0045121 membrane raft
- GO:0045202 synapse
- GO:0045211 postsynaptic membrane
Molecular Function
Biological Process
KEGG
Reactome
Mediation Categories
Clinical-translation mediationFusion and delivery mediationMetabolism mediationReceptor-signaling mediation
Relations & Evidence
Enzyme-Mediated Modification
0 records.
Ligand-Receptor Signaling
7 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| intracellular | intracellular | LOCATE | No | No | No | No | No |
| intracellular | intracellular | ComPPI | No | No | No | No | No |
| intracellular | intracellular | GO_Intercell | No | No | No | No | No |
| intracellular | intracellular | UniProt_location | No | No | No | No | No |
| intracellular | intracellular | OmniPath | No | No | No | No | No |
| plasma_membrane | plasma_membrane | UniProt_location | No | No | No | No | No |
| plasma_membrane | plasma_membrane | OmniPath | No | No | No | No | No |
Regulatory Interaction Network
2 records.
| Source Protein Symbol | Source UniProt ID | Target Protein Symbol | Target UniProt ID | Is Directed | Is Stimulation | Is Inhibition | Database | References |
|---|---|---|---|---|---|---|---|---|
| ANK2 | Q01484 | DMD | P11532 | Yes | Yes | No | SIGNOR | SIGNOR:19109891 |
| ANK3 | Q12955 | DMD | P11532 | Yes | Yes | No | SIGNOR | SIGNOR:19109891 |
Protein Complex Composition
6 records.
| Component Name | Component Gene Symbols | Component UniProt ID | Stoichiometry | Database | Database IDs | References |
|---|---|---|---|---|---|---|
| APPB4DMD5 | B4DMD5P05067 | 12:6 | PDB | PDB:9k0fPDB:9k0ePDB:9k0d | ||
| DMD | P11532 | 4 | PDB | PDB:1dxxPDB:9d58PDB:3uun | ||
| CTNNAL1DMDSNTB1 | P11532Q13884Q9UBT7 | 0:0:0 | hu.MAP2 | |||
| CASP1GSDMD | P29466P57764 | 4:2 | PDB | PDB:6kn0 | ||
| CASP4GSDMD | P49662P57764 | 8:2 | PDB | PDB:6kmz | ||
| GSDMD | P57764 | 2 | PDB | PDB:5wqtPDB:6vfePDB:7z1xPDB:6n9o |
Isolation & Detection Technology
1 record.
| EV Isolation Method | Detection Method | Number of References | References |
|---|---|---|---|
| Differential UltracentrifugationSize Exclusion ChromatographyImmunoaffinity Capture | Mass spectrometry | 1 | 38113368 |
Sequence, Structure & Domains
Sequences
Length
3,685
Mass
426,778
Sequence
MLWWEEVEDCYEREDVQKKTFTKWVNAQFSKFGKQHIENLFSDLQDGRRLLDLLEGLTGQKLPKEKGSTRVHALNNVNKALRVLQNNNVDLVNIGSTDIVDGNHKLTLGLIWNIILHWQVKNVMKNIMAGLQQTNSEKILLSWVRQSTRNYPQVNVINFTTSWSDGLALNALIHSHRPDLFDWNSVVCQQSATQRLEHAFNIARYQLGIEKLLDPEDVDTTYPDKKSILMYITSLFQVLPQQVSIEAIQEVEMLPRPPKVTKEEHFQLHHQMHYSQQITVSLAQGYERTSSPKPRFKSYAYTQAAYVTTSDPTRSPFPSQHLEAPEDKSFGSSLMESEVNLDRYQTALEEVLSWLLSAEDTLQAQGEISNDVEVVKDQFHTHEGYMMDLTAHQGRVGNILQLGSKLIGTGKLSEDEETEVQEQMNLLNSRWECLRVASMEKQSNLHRVLMDLQNQKLKELNDWLTKTEERTRKMEEEPLGPDLEDLKRQVQQHKVLQEDLEQEQVRVNSLTHMVVVVDESSGDHATAALEEQLKVLGDRWANICRWTEDRWVLLQDILLKWQRLTEEQCLFSAWLSEKEDAVNKIHTTGFKDQNEMLSSLQKLAVLKADLEKKKQSMGKLYSLKQDLLSTLKNKSVTQKTEAWLDNFARCWDNLVQKLEKSTAQISQAVTTTQPSLTQTTVMETVTTVTTREQILVKHAQEELPPPPPQKKRQITVDSEIRKRLDVDITELHSWITRSEAVLQSPEFAIFRKEGNFSDLKEKVNAIEREKAEKFRKLQDASRSAQALVEQMVNEGVNADSIKQASEQLNSRWIEFCQLLSERLNWLEYQNNIIAFYNQLQQLEQMTTTAENWLKIQPTTPSEPTAIKSQLKICKDEVNRLSDLQPQIERLKIQSIALKEKGQGPMFLDADFVAFTNHFKQVFSDVQAREKELQTIFDTLPPMRYQETMSAIRTWVQQSETKLSIPQLSVTDYEIMEQRLGELQALQSSLQEQQSGLYYLSTTVKEMSKKAPSEISRKYQSEFEEIEGRWKKLSSQLVEHCQKLEEQMNKLRKIQNHIQTLKKWMAEVDVFLKEEWPALGDSEILKKQLKQCRLLVSDIQTIQPSLNSVNEGGQKIKNEAEPEFASRLETELKELNTQWDHMCQQVYARKEALKGGLEKTVSLQKDLSEMHEWMTQAEEEYLERDFEYKTPDELQKAVEEMKRAKEEAQQKEAKVKLLTESVNSVIAQAPPVAQEALKKELETLTTNYQWLCTRLNGKCKTLEEVWACWHELLSYLEKANKWLNEVEFKLKTTENIPGGAEEISEVLDSLENLMRHSEDNPNQIRILAQTLTDGGVMDELINEELETFNSRWRELHEEAVRRQKLLEQSIQSAQETEKSLHLIQESLTFIDKQLAAYIADKVDAAQMPQEAQKIQSDLTSHEISLEEMKKHNQGKEAAQRVLSQIDVAQKKLQDVSMKFRLFQKPANFEQRLQESKMILDEVKMHLPALETKSVEQEVVQSQLNHCVNLYKSLSEVKSEVEMVIKTGRQIVQKKQTENPKELDERVTALKLHYNELGAKVTERKQQLEKCLKLSRKMRKEMNVLTEWLAATDMELTKRSAVEGMPSNLDSEVAWGKATQKEIEKQKVHLKSITEVGEALKTVLGKKETLVEDKLSLLNSNWIAVTSRAEEWLNLLLEYQKHMETFDQNVDHITKWIIQADTLLDESEKKKPQQKEDVLKRLKAELNDIRPKVDSTRDQAANLMANRGDHCRKLVEPQISELNHRFAAISHRIKTGKASIPLKELEQFNSDIQKLLEPLEAEIQQGVNLKEEDFNKDMNEDNEGTVKELLQRGDNLQQRITDERKREEIKIKQQLLQTKHNALKDLRSQRRKKALEISHQWYQYKRQADDLLKCLDDIEKKLASLPEPRDERKIKEIDRELQKKKEELNAVRRQAEGLSEDGAAMAVEPTQIQLSKRWREIESKFAQFRRLNFAQIHTVREETMMVMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPDLCAKDFEDLFKQEESLKNIKDSLQQSSGRIDIIHSKKTAALQSATPVERVKLQEALSQLDFQWEKVNKMYKDRQGRFDRSVEKWRRFHYDIKIFNQWLTEAEQFLRKTQIPENWEHAKYKWYLKELQDGIGQRQTVVRTLNATGEEIIQQSSKTDASILQEKLGSLNLRWQEVCKQLSDRKKRLEEQKNILSEFQRDLNEFVLWLEEADNIASIPLEPGKEQQLKEKLEQVKLLVEELPLRQGILKQLNETGGPVLVSAPISPEEQDKLENKLKQTNLQWIKVSRALPEKQGEIEAQIKDLGQLEKKLEDLEEQLNHLLLWLSPIRNQLEIYNQPNQEGPFDVKETEIAVQAKQPDVEEILSKGQHLYKEKPATQPVKRKLEDLSSEWKAVNRLLQELRAKQPDLAPGLTTIGASPTQTVTLVTQPVVTKETAISKLEMPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLEDINEMIIKQKATMQDLEQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWDEVQEHLQNRRQQLNEMLKDSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKITETKQLAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVSEREAALEETHRLLQQFPLDLEKFLAWLTEAETTANVLQDATRKERLLEDSKGVKELMKQWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSLNIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRAFKRELKTKEPVIMSTLETVRIFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADWQRKIDETLERLRELQEATDELDLKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTLGIQLSPYNLSTLEDLNTRWKLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYINHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPASSPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLNQDSPLSQPRSPAQILISLESEERGELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPPEMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPQAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLNNSFPSSRGRNTPGKPMREDTM
Alternative Products
Event=Alternative promoter usage, Alternative splicing; Named isoforms=17; Name=1; Synonyms=Dystrophin-4, Dp427m; IsoId=P11532-1; Sequence=Displayed; Name=2; Synonyms=Dystrophin-3, Dp427c; IsoId=P11532-4; Sequence=VSP_006809; Name=3; Synonyms=Dp427p; IsoId=P11532-11; Sequence=VSP_060274; Name=4; Synonyms=Dystrophin-1, Dp260-1; IsoId=P11532-2; Sequence=VSP_006806, VSP_006807; Name=5; Synonyms=Dystrophin-2, Dp260-2; IsoId=P11532-3; Sequence=VSP_006808, VSP_006807; Name=6; Synonyms=Dp140; IsoId=P11532-12; Sequence=VSP_060275; Name=7; Synonyms=Dp140c; IsoId=P11532-13; Sequence=VSP_060275, VSP_046319; Name=8; Synonyms=Dp140b; IsoId=P11532-14; Sequence=VSP_060275, VSP_017493; Name=9; Synonyms=Dp140ab; IsoId=P11532-15; Sequence=VSP_060275, VSP_017492, VSP_017493; Name=10; Synonyms=Dp140bc; IsoId=P11532-16; Sequence=VSP_060275, VSP_046319, VSP_017493; Name=11; Synonyms=Dp116; IsoId=P11532-17; Sequence=VSP_060276, VSP_060277; Name=12; Synonyms=Dp71; IsoId=P11532-7; Sequence=VSP_017490, VSP_017491; Name=13; Synonyms=Dp71a; IsoId=P11532-8; Sequence=VSP_017490, VSP_017491, VSP_017492; Name=14; Synonyms=Dp71b; IsoId=P11532-6; Sequence=VSP_017490, VSP_017491, VSP_017493; Name=15; Synonyms=Dp71ab; IsoId=P11532-5; Sequence=VSP_017490, VSP_017491, VSP_017492, VSP_017493; Name=16; Synonyms=Dp60, Dp71delta110; IsoId=P11532-9; Sequence=VSP_017490, VSP_017491, VSP_046319, VSP_017493; Name=17; Synonyms=Dp40; IsoId=P11532-18; Sequence=VSP_017490, VSP_017491, VSP_060278
Alternative Sequence
1..3068; Missing (in isoform 12, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17); 1..2729; Missing (in isoform 11); 1..2460; Missing (in isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10); 1..11; MLWWEEVEDCY -> MED (in isoform 2); 1..11; MLWWEEVEDCY -> MSEVSSD (in isoform 3); 1; M -> MTEIILLIFFPAYFLN (in isoform 4); 1; M -> MSARKLRNLSYKK (in isoform 5); 2..1357; Missing (in isoform 4 and isoform 5); 2730..2739; GVKELMKQWQ -> MLHRKTYHVK (in isoform 11); 3069..3075; KVPYYIN -> MREQLKG (in isoform 12, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17); 3409..3685; Missing (in isoform 17); 3409..3518; Missing (in isoform 7, isoform 10 and isoform 16); 3409..3421; Missing (in isoform 9, isoform 13 and isoform 15); 3673..3685; RNTPGKPMREDTM -> HNVGSLFHMADDLGRAMESLVSVMTDEEGAE (in isoform 8, isoform 9, isoform 10, isoform 14, isoform 15 and isoform 16)
3D Structural Models
Turn
40..46; 119..121; 3076..3079; 3270..3272; 3290..3293
Helix
14..31; 48..58; 70..86; 96..100; 104..118; 122..131; 136..148; 161..163; 167..176; 178..180; 183..187; 192..205; 215..218; 225..236; 339..365; 372..409; 414..452; 3050..3054; 3086..3094; 3095..3098; 3104..3118; 3121..3123; 3126..3135; 3147..3164; 3171..3186; 3196..3205; 3211..3222; 3231..3247; 3251..3254; 3260..3269; 3278..3286; 3294..3304
Beta Strand
158..160; 219..222; 243..245; 3061..3065; 3071..3075; 3080..3084; 3143..3146; 3165..3168; 3192..3195; 3207..3209
3D Structure
X-ray crystallography (5)
Domain & Motif Annotations
Compositional Bias
3607..3626; Polar residues; 3662..3673; Polar residues
Repeat
339..447; Spectrin 1; 448..556; Spectrin 2; 559..667; Spectrin 3; 719..828; Spectrin 4; 830..934; Spectrin 5; 943..1045; Spectrin 6; 1048..1154; Spectrin 7; 1157..1263; Spectrin 8; 1266..1367; Spectrin 9; 1368..1463; Spectrin 10; 1468..1568; Spectrin 11; 1571..1676; Spectrin 12; 1679..1778; Spectrin 13; 1779..1874; Spectrin 14; 1877..1979; Spectrin 15; 1992..2101; Spectrin 16; 2104..2208; Spectrin 17; 2211..2318; Spectrin 18; 2319..2423; Spectrin 19; 2475..2577; Spectrin 20; 2580..2686; Spectrin 21; 2689..2802; Spectrin 22; 2808..2930; Spectrin 23; 2935..3040; Spectrin 24
Zinc Finger
3308..3364; ZZ-type; degenerate
Domain (FT)
15..119; Calponin-homology (CH) 1; 134..240; Calponin-homology (CH) 2; 3055..3088; WW
Region
1..240; Actin-binding; 63..72; ANK2- and ANK-3 binding; 1415..1913; Interaction with SYNM; 3058..3408; Interaction with SYNM; 3466..3518; Binds to SNTB1; 3528..3554; Disordered; 3603..3685; Disordered
Clinical Relevance
Disease Involvement
Cancer-related genesCardiomyopathyDisease variantFDA approved drug targets
Related Diseases
Biomarker
Phase 3; Phase 2; Phase 1; Phase 2/3
Drug Targets
FDA approved drug targets
Interaction Protein
ENSG00000101400ENSG00000119326ENSG00000134769ENSG00000138101ENSG00000152240ENSG00000168807ENSG00000172164
Interaction Count
7
Interaction Dataset
intact_biogrid