UniProtKB - P11532 (DMD_HUMAN)
Dystrophin
DMD
Functioni
Miscellaneous
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 3307 – 3354 | ZZ-typePROSITE-ProRule annotationAdd BLAST | 48 |
GO - Molecular functioni
- actin binding Source: BHF-UCL
- dystroglycan binding Source: UniProtKB
- myosin binding Source: BHF-UCL
- nitric-oxide synthase binding Source: BHF-UCL
- structural constituent of cytoskeleton Source: ProtInc
- structural constituent of muscle Source: UniProtKB
- vinculin binding Source: BHF-UCL
- zinc ion binding Source: InterPro
GO - Biological processi
- cardiac muscle cell action potential Source: BHF-UCL
- cardiac muscle contraction Source: BHF-UCL
- cellular protein-containing complex assembly Source: BHF-UCL
- cellular protein localization Source: BHF-UCL
- maintenance of blood-brain barrier Source: ARUK-UCL
- motile cilium assembly Source: BHF-UCL
- muscle cell cellular homeostasis Source: BHF-UCL
- muscle fiber development Source: BHF-UCL
- muscle filament sliding Source: Reactome
- muscle organ development Source: ProtInc
- negative regulation of peptidyl-cysteine S-nitrosylation Source: BHF-UCL
- negative regulation of peptidyl-serine phosphorylation Source: BHF-UCL
- peptide biosynthetic process Source: UniProtKB
- positive regulation of neuron differentiation Source: BHF-UCL
- positive regulation of neuron projection development Source: BHF-UCL
- positive regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: BHF-UCL
- regulation of cellular response to growth factor stimulus Source: BHF-UCL
- regulation of heart rate Source: BHF-UCL
- regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: BHF-UCL
- regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
- regulation of skeletal muscle contraction Source: BHF-UCL
- regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion Source: BHF-UCL
- regulation of voltage-gated calcium channel activity Source: BHF-UCL
- response to muscle stretch Source: BHF-UCL
Keywordsi
Molecular function | Actin-binding |
Ligand | Calcium, Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | P11532 |
Reactomei | R-HSA-3000171, Non-integrin membrane-ECM interactions R-HSA-390522, Striated Muscle Contraction |
SignaLinki | P11532 |
SIGNORi | P11532 |
Protein family/group databases
TCDBi | 8.A.66.1.2, the dystrophin (dystrophin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Dystrophin |
Gene namesi | Name:DMD |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000198947.15 |
HGNCi | HGNC:2928, DMD |
MIMi | 300377, gene |
neXtProti | NX_P11532 |
Subcellular locationi
Cytoskeleton
- cytoskeleton By similarity
Plasma membrane
- sarcolemma By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
- postsynaptic cell membrane By similarity
Note: In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs). In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals.By similarity
Cytoskeleton
- cytoskeleton Source: ProtInc
Cytosol
- cytosol Source: Reactome
Nucleus
- nucleus Source: BHF-UCL
Plasma Membrane
- dystrophin-associated glycoprotein complex Source: UniProtKB
- filopodium membrane Source: BHF-UCL
- plasma membrane Source: BHF-UCL
- postsynaptic membrane Source: UniProtKB-SubCell
- sarcolemma Source: BHF-UCL
- syntrophin complex Source: BHF-UCL
Other locations
- cell surface Source: UniProtKB
- cell-substrate junction Source: BHF-UCL
- costamere Source: UniProtKB
- filopodium Source: BHF-UCL
- membrane raft Source: BHF-UCL
- neuron projection terminus Source: BHF-UCL
- protein-containing complex Source: MGI
- synapse Source: BHF-UCL
- Z disc Source: BHF-UCL
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Postsynaptic cell membrane, SynapsePathology & Biotechi
Involvement in diseasei
Duchenne muscular dystrophy (DMD)6 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005147 | 54 | L → R in DMD. 1 Publication | 1 | |
Natural variantiVAR_023541 | 645 | D → G in DMD. 1 Publication | 1 | |
Natural variantiVAR_005154 | 773 | K → E in DMD. | 1 | |
Natural variantiVAR_005166 | 2305 – 2366 | Missing in DMD. Add BLAST | 62 | |
Natural variantiVAR_023545 | 3313 | C → F in DMD; results in highly reduced protein levels and expression at the sarcolemma. 2 Publications | 1 | |
Natural variantiVAR_023546 | 3335 | D → H in DMD; does not affect protein stability; does not affect protein expression at the sarcolemma; interaction with DAG1 is reduced. 2 Publications | 1 | |
Natural variantiVAR_023547 | 3340 | C → Y in DMD; results in highly reduced protein levels and expression at the sarcolemma. 2 Publications | 1 |
Becker muscular dystrophy (BMD)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005146 | 32 – 62 | Missing in BMD. Add BLAST | 31 | |
Natural variantiVAR_005149 | 168 | A → D in BMD. | 1 | |
Natural variantiVAR_023539 | 171 | A → P in BMD. 1 Publication | 1 | |
Natural variantiVAR_005150 | 231 | Y → N in BMD. | 1 | |
Natural variantiVAR_005152 | 495 – 534 | Missing in BMD. Add BLAST | 40 | |
Natural variantiVAR_005170 | 2921 | H → R in BMD. Corresponds to variant dbSNP:rs1800279EnsemblClinVar. | 1 | |
Natural variantiVAR_005172 | 3421 | A → V in BMD. | 1 |
Cardiomyopathy, dilated, X-linked 3B (CMD3B)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023537 | 18 | K → N in CMD3B; decreased thermodynamic stability; accelerated unfolding, perturbed protein structure; no effect on anchoring function. 2 Publications | 1 | |
Natural variantiVAR_023540 | 279 | T → A in CMD3B. 1 Publication | 1 | |
Natural variantiVAR_023544 | 3228 | F → L in CMD3B. 1 Publication | 1 |
Keywords - Diseasei
Cardiomyopathy, Disease mutationOrganism-specific databases
DisGeNETi | 1756 |
GeneReviewsi | DMD |
MalaCardsi | DMD |
MIMi | 300376, phenotype 302045, phenotype 310200, phenotype |
OpenTargetsi | ENSG00000198947 |
Orphaneti | 98895, Becker muscular dystrophy 98896, Duchenne muscular dystrophy 154, Familial isolated dilated cardiomyopathy 206546, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 777, X-linked non-syndromic intellectual disability |
PharmGKBi | PA27378 |
Miscellaneous databases
Pharosi | P11532, Tbio |
Chemistry databases
DrugBanki | DB15593, Golodirsen |
Polymorphism and mutation databases
BioMutai | DMD |
DMDMi | 313104240 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000076075 | 1 – 3685 | DystrophinAdd BLAST | 3685 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 3483 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 3490 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 3500 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 3612 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 3613 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 3617 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 3623 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 3624 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 3666 | PhosphoserineCombined sources | 1 | ||
Isoform 15 (identifier: P11532-5) | |||||
Modified residuei | 340 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 344 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 348 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 616 | PhosphothreonineCombined sources | 1 | ||
Isoform 13 (identifier: P11532-8) | |||||
Modified residuei | 340 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 344 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 348 | PhosphoserineCombined sources | 1 | ||
Isoform 16 (identifier: P11532-9) | |||||
Modified residuei | 519 | PhosphothreonineCombined sources | 1 | ||
Isoform 14 (identifier: P11532-6) | |||||
Modified residuei | 629 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P11532 |
jPOSTi | P11532 |
MassIVEi | P11532 |
MaxQBi | P11532 |
PaxDbi | P11532 |
PeptideAtlasi | P11532 |
PRIDEi | P11532 |
ProteomicsDBi | 17631 17635 17951 19709 19712 25166 29059 52788 [P11532-1] 52789 [P11532-2] 52790 [P11532-3] 52791 [P11532-4] 52792 [P11532-5] 52793 [P11532-6] |
PTM databases
CarbonylDBi | P11532 |
iPTMneti | P11532 |
PhosphoSitePlusi | P11532 |
SwissPalmi | P11532 |
Expressioni
Tissue specificityi
Developmental stagei
Gene expression databases
Bgeei | ENSG00000198947, Expressed in trigeminal ganglion and 247 other tissues |
ExpressionAtlasi | P11532, baseline and differential |
Genevisiblei | P11532, HS |
Organism-specific databases
HPAi | ENSG00000198947, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with SYNM (By similarity).
Interacts with the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2 (PubMed:7844150, PubMed:8576247).
Interacts with KRT19 (PubMed:16000376).
Component of the dystrophin-associated glycoprotein complex which is composed of three subcomplexes: a cytoplasmic complex comprised of DMD (or UTRN), DTNA and a number of syntrophins, such as SNTB1, SNTB2, SNTG1 and SNTG2, the transmembrane dystroglycan complex, and the sarcoglycan-sarcospan complex.
Interacts with DAG1 (betaDAG1) with DMD; the interaction is inhibited by phosphorylation on the PPXY motif of DAG1 (PubMed:7592992, PubMed:11495720, PubMed:10932245).
Interacts with CMYA5 (By similarity). Directly interacts with ANK2 and ANK3; these interactions do not interfere with betaDAG1-binding and are necessary for proper localization in muscle cells (By similarity).
Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (By similarity).
By similarity6 PublicationsBinary interactionsi
Hide detailsP11532
Isoform 15 [P11532-5]
With | #Exp. | IntAct |
---|---|---|
ANK2 [Q01484] | 2 | EBI-1018651,EBI-941975 |
Ank3 [Q3T1J5] from Rattus norvegicus. | 2 | EBI-1018651,EBI-2133962 |
GO - Molecular functioni
- actin binding Source: BHF-UCL
- dystroglycan binding Source: UniProtKB
- myosin binding Source: BHF-UCL
- nitric-oxide synthase binding Source: BHF-UCL
- vinculin binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 108096, 66 interactors |
DIPi | DIP-32593N |
IntActi | P11532, 54 interactors |
MINTi | P11532 |
STRINGi | 9606.ENSP00000354923 |
Miscellaneous databases
RNActi | P11532, protein |
Structurei
Secondary structure
3D structure databases
SASBDBi | P11532 |
SMRi | P11532 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P11532 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 15 – 119 | Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST | 105 | |
Domaini | 134 – 240 | Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST | 107 | |
Repeati | 339 – 447 | Spectrin 1Add BLAST | 109 | |
Repeati | 448 – 556 | Spectrin 2Add BLAST | 109 | |
Repeati | 559 – 667 | Spectrin 3Add BLAST | 109 | |
Repeati | 719 – 828 | Spectrin 4Add BLAST | 110 | |
Repeati | 830 – 934 | Spectrin 5Add BLAST | 105 | |
Repeati | 943 – 1045 | Spectrin 6Add BLAST | 103 | |
Repeati | 1048 – 1154 | Spectrin 7Add BLAST | 107 | |
Repeati | 1157 – 1263 | Spectrin 8Add BLAST | 107 | |
Repeati | 1266 – 1367 | Spectrin 9Add BLAST | 102 | |
Repeati | 1368 – 1463 | Spectrin 10Add BLAST | 96 | |
Repeati | 1468 – 1568 | Spectrin 11Add BLAST | 101 | |
Repeati | 1571 – 1676 | Spectrin 12Add BLAST | 106 | |
Repeati | 1679 – 1778 | Spectrin 13Add BLAST | 100 | |
Repeati | 1779 – 1874 | Spectrin 14Add BLAST | 96 | |
Repeati | 1877 – 1979 | Spectrin 15Add BLAST | 103 | |
Repeati | 1992 – 2101 | Spectrin 16Add BLAST | 110 | |
Repeati | 2104 – 2208 | Spectrin 17Add BLAST | 105 | |
Repeati | 2211 – 2318 | Spectrin 18Add BLAST | 108 | |
Repeati | 2319 – 2423 | Spectrin 19Add BLAST | 105 | |
Repeati | 2475 – 2577 | Spectrin 20Add BLAST | 103 | |
Repeati | 2580 – 2686 | Spectrin 21Add BLAST | 107 | |
Repeati | 2689 – 2802 | Spectrin 22Add BLAST | 114 | |
Repeati | 2808 – 2930 | Spectrin 23Add BLAST | 123 | |
Repeati | 2935 – 3040 | Spectrin 24Add BLAST | 106 | |
Domaini | 3055 – 3088 | WWPROSITE-ProRule annotationAdd BLAST | 34 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 240 | Actin-bindingAdd BLAST | 240 | |
Regioni | 63 – 72 | ANK2- and ANK-3 bindingBy similarity | 10 | |
Regioni | 1415 – 1913 | Interaction with SYNMBy similarityAdd BLAST | 499 | |
Regioni | 3058 – 3408 | Interaction with SYNMBy similarityAdd BLAST | 351 | |
Regioni | 3466 – 3518 | Binds to SNTB1Add BLAST | 53 |
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 3307 – 3354 | ZZ-typePROSITE-ProRule annotationAdd BLAST | 48 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG4286, Eukaryota |
GeneTreei | ENSGT00940000154342 |
HOGENOMi | CLU_001187_1_2_1 |
InParanoidi | P11532 |
OrthoDBi | 924518at2759 |
PhylomeDBi | P11532 |
TreeFami | TF320178 |
Family and domain databases
CDDi | cd00014, CH, 2 hits cd00201, WW, 1 hit |
Gene3Di | 1.10.418.10, 2 hits 3.30.60.90, 1 hit |
IDEALi | IID00267 |
InterProi | View protein in InterPro IPR001589, Actinin_actin-bd_CS IPR001715, CH-domain IPR036872, CH_dom_sf IPR035436, Dystrophin/utrophin IPR011992, EF-hand-dom_pair IPR015153, EF-hand_dom_typ1 IPR015154, EF-hand_dom_typ2 IPR018159, Spectrin/alpha-actinin IPR002017, Spectrin_repeat IPR001202, WW_dom IPR036020, WW_dom_sf IPR000433, Znf_ZZ IPR043145, Znf_ZZ_sf |
Pfami | View protein in Pfam PF00307, CH, 2 hits PF09068, EF-hand_2, 1 hit PF09069, EF-hand_3, 1 hit PF00435, Spectrin, 17 hits PF00397, WW, 1 hit PF00569, ZZ, 1 hit |
PIRSFi | PIRSF002341, Dystrophin/utrophin, 1 hit |
SMARTi | View protein in SMART SM00033, CH, 2 hits SM00150, SPEC, 22 hits SM00456, WW, 1 hit SM00291, ZnF_ZZ, 1 hit |
SUPFAMi | SSF47473, SSF47473, 2 hits SSF47576, SSF47576, 1 hit SSF51045, SSF51045, 1 hit |
PROSITEi | View protein in PROSITE PS00019, ACTININ_1, 1 hit PS00020, ACTININ_2, 1 hit PS50021, CH, 2 hits PS01159, WW_DOMAIN_1, 1 hit PS50020, WW_DOMAIN_2, 1 hit PS01357, ZF_ZZ_1, 1 hit PS50135, ZF_ZZ_2, 1 hit |
s (17+)i Sequence
Sequence statusi: Complete.
This entry describes 17 produced by isoformsialternative promoter usage and alternative splicing. AlignAdd to basketThis entry has 17 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MLWWEEVEDC YEREDVQKKT FTKWVNAQFS KFGKQHIENL FSDLQDGRRL
60 70 80 90 100
LDLLEGLTGQ KLPKEKGSTR VHALNNVNKA LRVLQNNNVD LVNIGSTDIV
110 120 130 140 150
DGNHKLTLGL IWNIILHWQV KNVMKNIMAG LQQTNSEKIL LSWVRQSTRN
160 170 180 190 200
YPQVNVINFT TSWSDGLALN ALIHSHRPDL FDWNSVVCQQ SATQRLEHAF
210 220 230 240 250
NIARYQLGIE KLLDPEDVDT TYPDKKSILM YITSLFQVLP QQVSIEAIQE
260 270 280 290 300
VEMLPRPPKV TKEEHFQLHH QMHYSQQITV SLAQGYERTS SPKPRFKSYA
310 320 330 340 350
YTQAAYVTTS DPTRSPFPSQ HLEAPEDKSF GSSLMESEVN LDRYQTALEE
360 370 380 390 400
VLSWLLSAED TLQAQGEISN DVEVVKDQFH THEGYMMDLT AHQGRVGNIL
410 420 430 440 450
QLGSKLIGTG KLSEDEETEV QEQMNLLNSR WECLRVASME KQSNLHRVLM
460 470 480 490 500
DLQNQKLKEL NDWLTKTEER TRKMEEEPLG PDLEDLKRQV QQHKVLQEDL
510 520 530 540 550
EQEQVRVNSL THMVVVVDES SGDHATAALE EQLKVLGDRW ANICRWTEDR
560 570 580 590 600
WVLLQDILLK WQRLTEEQCL FSAWLSEKED AVNKIHTTGF KDQNEMLSSL
610 620 630 640 650
QKLAVLKADL EKKKQSMGKL YSLKQDLLST LKNKSVTQKT EAWLDNFARC
660 670 680 690 700
WDNLVQKLEK STAQISQAVT TTQPSLTQTT VMETVTTVTT REQILVKHAQ
710 720 730 740 750
EELPPPPPQK KRQITVDSEI RKRLDVDITE LHSWITRSEA VLQSPEFAIF
760 770 780 790 800
RKEGNFSDLK EKVNAIEREK AEKFRKLQDA SRSAQALVEQ MVNEGVNADS
810 820 830 840 850
IKQASEQLNS RWIEFCQLLS ERLNWLEYQN NIIAFYNQLQ QLEQMTTTAE
860 870 880 890 900
NWLKIQPTTP SEPTAIKSQL KICKDEVNRL SDLQPQIERL KIQSIALKEK
910 920 930 940 950
GQGPMFLDAD FVAFTNHFKQ VFSDVQAREK ELQTIFDTLP PMRYQETMSA
960 970 980 990 1000
IRTWVQQSET KLSIPQLSVT DYEIMEQRLG ELQALQSSLQ EQQSGLYYLS
1010 1020 1030 1040 1050
TTVKEMSKKA PSEISRKYQS EFEEIEGRWK KLSSQLVEHC QKLEEQMNKL
1060 1070 1080 1090 1100
RKIQNHIQTL KKWMAEVDVF LKEEWPALGD SEILKKQLKQ CRLLVSDIQT
1110 1120 1130 1140 1150
IQPSLNSVNE GGQKIKNEAE PEFASRLETE LKELNTQWDH MCQQVYARKE
1160 1170 1180 1190 1200
ALKGGLEKTV SLQKDLSEMH EWMTQAEEEY LERDFEYKTP DELQKAVEEM
1210 1220 1230 1240 1250
KRAKEEAQQK EAKVKLLTES VNSVIAQAPP VAQEALKKEL ETLTTNYQWL
1260 1270 1280 1290 1300
CTRLNGKCKT LEEVWACWHE LLSYLEKANK WLNEVEFKLK TTENIPGGAE
1310 1320 1330 1340 1350
EISEVLDSLE NLMRHSEDNP NQIRILAQTL TDGGVMDELI NEELETFNSR
1360 1370 1380 1390 1400
WRELHEEAVR RQKLLEQSIQ SAQETEKSLH LIQESLTFID KQLAAYIADK
1410 1420 1430 1440 1450
VDAAQMPQEA QKIQSDLTSH EISLEEMKKH NQGKEAAQRV LSQIDVAQKK
1460 1470 1480 1490 1500
LQDVSMKFRL FQKPANFEQR LQESKMILDE VKMHLPALET KSVEQEVVQS
1510 1520 1530 1540 1550
QLNHCVNLYK SLSEVKSEVE MVIKTGRQIV QKKQTENPKE LDERVTALKL
1560 1570 1580 1590 1600
HYNELGAKVT ERKQQLEKCL KLSRKMRKEM NVLTEWLAAT DMELTKRSAV
1610 1620 1630 1640 1650
EGMPSNLDSE VAWGKATQKE IEKQKVHLKS ITEVGEALKT VLGKKETLVE
1660 1670 1680 1690 1700
DKLSLLNSNW IAVTSRAEEW LNLLLEYQKH METFDQNVDH ITKWIIQADT
1710 1720 1730 1740 1750
LLDESEKKKP QQKEDVLKRL KAELNDIRPK VDSTRDQAAN LMANRGDHCR
1760 1770 1780 1790 1800
KLVEPQISEL NHRFAAISHR IKTGKASIPL KELEQFNSDI QKLLEPLEAE
1810 1820 1830 1840 1850
IQQGVNLKEE DFNKDMNEDN EGTVKELLQR GDNLQQRITD ERKREEIKIK
1860 1870 1880 1890 1900
QQLLQTKHNA LKDLRSQRRK KALEISHQWY QYKRQADDLL KCLDDIEKKL
1910 1920 1930 1940 1950
ASLPEPRDER KIKEIDRELQ KKKEELNAVR RQAEGLSEDG AAMAVEPTQI
1960 1970 1980 1990 2000
QLSKRWREIE SKFAQFRRLN FAQIHTVREE TMMVMTEDMP LEISYVPSTY
2010 2020 2030 2040 2050
LTEITHVSQA LLEVEQLLNA PDLCAKDFED LFKQEESLKN IKDSLQQSSG
2060 2070 2080 2090 2100
RIDIIHSKKT AALQSATPVE RVKLQEALSQ LDFQWEKVNK MYKDRQGRFD
2110 2120 2130 2140 2150
RSVEKWRRFH YDIKIFNQWL TEAEQFLRKT QIPENWEHAK YKWYLKELQD
2160 2170 2180 2190 2200
GIGQRQTVVR TLNATGEEII QQSSKTDASI LQEKLGSLNL RWQEVCKQLS
2210 2220 2230 2240 2250
DRKKRLEEQK NILSEFQRDL NEFVLWLEEA DNIASIPLEP GKEQQLKEKL
2260 2270 2280 2290 2300
EQVKLLVEEL PLRQGILKQL NETGGPVLVS APISPEEQDK LENKLKQTNL
2310 2320 2330 2340 2350
QWIKVSRALP EKQGEIEAQI KDLGQLEKKL EDLEEQLNHL LLWLSPIRNQ
2360 2370 2380 2390 2400
LEIYNQPNQE GPFDVKETEI AVQAKQPDVE EILSKGQHLY KEKPATQPVK
2410 2420 2430 2440 2450
RKLEDLSSEW KAVNRLLQEL RAKQPDLAPG LTTIGASPTQ TVTLVTQPVV
2460 2470 2480 2490 2500
TKETAISKLE MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV
2510 2520 2530 2540 2550
GDLEDINEMI IKQKATMQDL EQRRPQLEEL ITAAQNLKNK TSNQEARTII
2560 2570 2580 2590 2600
TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK DSTQWLEAKE EAEQVLGQAR
2610 2620 2630 2640 2650
AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA NDLALKLLRD
2660 2670 2680 2690 2700
YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK
2710 2720 2730 2740 2750
FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD
2760 2770 2780 2790 2800
VYHNLDENSQ KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL
2810 2820 2830 2840 2850
EASSDQWKRL HLSLQELLVW LQLKDDELSR QAPIGGDFPA VQKQNDVHRA
2860 2870 2880 2890 2900
FKRELKTKEP VIMSTLETVR IFLTEQPLEG LEKLYQEPRE LPPEERAQNV
2910 2920 2930 2940 2950
TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLQELQ EATDELDLKL
2960 2970 2980 2990 3000
RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR
3010 3020 3030 3040 3050
QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ
3060 3070 3080 3090 3100
HFLSTSVQGP WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN
3110 3120 3130 3140 3150
VRFSAYRTAM KLRRLQKALC LDLLSLSAAC DALDQHNLKQ NDQPMDILQI
3160 3170 3180 3190 3200
INCLTTIYDR LEQEHNNLVN VPLCVDMCLN WLLNVYDTGR TGRIRVLSFK
3210 3220 3230 3240 3250
TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD SIQIPRQLGE
3260 3270 3280 3290 3300
VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR
3310 3320 3330 3340 3350
VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH
3360 3370 3380 3390 3400
KMHYPMVEYC TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV
3410 3420 3430 3440 3450
LEGDNMETPV TLINFWPVDS APASSPQLSH DDTHSRIEHY ASRLAEMENS
3460 3470 3480 3490 3500
NGSYLNDSIS PNESIDDEHL LIQHYCQSLN QDSPLSQPRS PAQILISLES
3510 3520 3530 3540 3550
EERGELERIL ADLEEENRNL QAEYDRLKQQ HEHKGLSPLP SPPEMMPTSP
3560 3570 3580 3590 3600
QSPRDAELIA EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP
3610 3620 3630 3640 3650
QAEAKVNGTT VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ
3660 3670 3680
DTSTGLEEVM EQLNNSFPSS RGRNTPGKPM REDTM
The sequence of this isoform differs from the canonical sequence as follows:
1-2460: Missing.
3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE
The sequence of this isoform differs from the canonical sequence as follows:
1-2460: Missing.
3409-3421: Missing.
3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE
The sequence of this isoform differs from the canonical sequence as follows:
1-2460: Missing.
3409-3518: Missing.
3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE
The sequence of this isoform differs from the canonical sequence as follows:
1-2729: Missing.
2730-2739: GVKELMKQWQ → MLHRKTYHVK
The sequence of this isoform differs from the canonical sequence as follows:
1-3068: Missing.
3069-3075: KVPYYIN → MREQLKG
The sequence of this isoform differs from the canonical sequence as follows:
1-3068: Missing.
3069-3075: KVPYYIN → MREQLKG
3409-3421: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-3068: Missing.
3069-3075: KVPYYIN → MREQLKG
3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE
The sequence of this isoform differs from the canonical sequence as follows:
1-3068: Missing.
3069-3075: KVPYYIN → MREQLKG
3409-3421: Missing.
3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE
The sequence of this isoform differs from the canonical sequence as follows:
1-3068: Missing.
3069-3075: KVPYYIN → MREQLKG
3409-3518: Missing.
3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE
The sequence of this isoform differs from the canonical sequence as follows:
1-3068: Missing.
3069-3075: KVPYYIN → MREQLKG
3409-3685: Missing.
Computationally mapped potential isoform sequencesi
There are 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A075B6G3 | A0A075B6G3_HUMAN | Dystrophin | DMD | 3,685 | Annotation score: | ||
A0A087WTU7 | A0A087WTU7_HUMAN | Dystrophin | DMD | 3,684 | Annotation score: | ||
A0A087WV90 | A0A087WV90_HUMAN | Dystrophin | DMD | 3,680 | Annotation score: | ||
A0A5H1ZRP8 | A0A5H1ZRP8_HUMAN | Dystrophin | DMD | 3,681 | Annotation score: | ||
A0A5H1ZRP7 | A0A5H1ZRP7_HUMAN | Dystrophin | DMD | 956 | Annotation score: | ||
A0A5H1ZRQ1 | A0A5H1ZRQ1_HUMAN | Dystrophin | DMD | 1,225 | Annotation score: | ||
A0A5H1ZRR9 | A0A5H1ZRR9_HUMAN | Dystrophin | DMD | 1,115 | Annotation score: | ||
H0Y304 | H0Y304_HUMAN | Dystrophin | DMD | 1,386 | Annotation score: | ||
A0A5H1ZRP9 | A0A5H1ZRP9_HUMAN | Dystrophin | DMD | 1,230 | Annotation score: | ||
A0A5H1ZRQ8 | A0A5H1ZRQ8_HUMAN | Dystrophin | DMD | 1,243 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 664 | Q → QM in CAA29544 (PubMed:3428261).Curated | 1 | |
Sequence conflicti | 2361 | G → E in CAA38589 (Ref. 13) Curated | 1 | |
Sequence conflicti | 3542 | P → T in AAH70078 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 3546 | M → V in AAH70078 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023537 | 18 | K → N in CMD3B; decreased thermodynamic stability; accelerated unfolding, perturbed protein structure; no effect on anchoring function. 2 Publications | 1 | |
Natural variantiVAR_005146 | 32 – 62 | Missing in BMD. Add BLAST | 31 | |
Natural variantiVAR_005147 | 54 | L → R in DMD. 1 Publication | 1 | |
Natural variantiVAR_065764 | 118 | W → R in a patient with Becker muscular dystrophy. 1 Publication | 1 | |
Natural variantiVAR_005148 | 133 | Q → P1 PublicationCorresponds to variant dbSNP:rs1800256Ensembl. | 1 | |
Natural variantiVAR_023538 | 165 | D → V in one patient with Becker muscular dystrophy. 1 Publication | 1 | |
Natural variantiVAR_005149 | 168 | A → D in BMD. | 1 | |
Natural variantiVAR_023539 | 171 | A → P in BMD. 1 Publication | 1 | |
Natural variantiVAR_005150 | 231 | Y → N in BMD. | 1 | |
Natural variantiVAR_023540 | 279 | T → A in CMD3B. 1 Publication | 1 | |
Natural variantiVAR_036353 | 334 | L → F in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_005151 | 365 | Q → H1 PublicationCorresponds to variant dbSNP:rs1800266EnsemblClinVar. | 1 | |
Natural variantiVAR_057642 | 409 | T → S. Corresponds to variant dbSNP:rs34155804EnsemblClinVar. | 1 | |
Natural variantiVAR_005152 | 495 – 534 | Missing in BMD. Add BLAST | 40 | |
Natural variantiVAR_057643 | 573 | A → V. Corresponds to variant dbSNP:rs5972599EnsemblClinVar. | 1 | |
Natural variantiVAR_005153 | 623 | L → I1 PublicationCorresponds to variant dbSNP:rs1800259Ensembl. | 1 | |
Natural variantiVAR_023541 | 645 | D → G in DMD. 1 Publication | 1 | |
Natural variantiVAR_062110 | 666 | S → L. Corresponds to variant dbSNP:rs34563188EnsemblClinVar. | 1 | |
Natural variantiVAR_057644 | 715 | T → S. Corresponds to variant dbSNP:rs16998350EnsemblClinVar. | 1 | |
Natural variantiVAR_005154 | 773 | K → E in DMD. | 1 | |
Natural variantiVAR_005155 | 784 | A → G1 PublicationCorresponds to variant dbSNP:rs1800260Ensembl. | 1 | |
Natural variantiVAR_005156 | 882 | D → G3 PublicationsCorresponds to variant dbSNP:rs228406EnsemblClinVar. | 1 | |
Natural variantiVAR_057645 | 1136 | T → S. Corresponds to variant dbSNP:rs3827462EnsemblClinVar. | 1 | |
Natural variantiVAR_005157 | 1197 | V → F1 PublicationCorresponds to variant dbSNP:rs1800262Ensembl. | 1 | |
Natural variantiVAR_036354 | 1219 | E → Q in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_005158 | 1245 | T → I. Corresponds to variant dbSNP:rs1800269EnsemblClinVar. | 1 | |
Natural variantiVAR_005159 | 1278 | A → P. Corresponds to variant dbSNP:rs1800270Ensembl. | 1 | |
Natural variantiVAR_005160 | 1377 | K → N1 PublicationCorresponds to variant dbSNP:rs1800263Ensembl. | 1 | |
Natural variantiVAR_057646 | 1388 | F → V. Corresponds to variant dbSNP:rs28715870EnsemblClinVar. | 1 | |
Natural variantiVAR_005161 | 1469 | Q → L1 PublicationCorresponds to variant dbSNP:rs1057872Ensembl. | 1 | |
Natural variantiVAR_036355 | 1470 | R → H in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_023542 | 1672 | N → K1 PublicationCorresponds to variant dbSNP:rs16990264EnsemblClinVar. | 1 | |
Natural variantiVAR_005162 | 1745 | R → H1 PublicationCorresponds to variant dbSNP:rs1801187EnsemblClinVar. | 1 | |
Natural variantiVAR_005163 | 1844 | R → S1 PublicationCorresponds to variant dbSNP:rs1801186Ensembl. | 1 | |
Natural variantiVAR_057647 | 2108 | R → C. Corresponds to variant dbSNP:rs16990169EnsemblClinVar. | 1 | |
Natural variantiVAR_005164 | 2155 | R → W1 PublicationCorresponds to variant dbSNP:rs1800273EnsemblClinVar. | 1 | |
Natural variantiVAR_036356 | 2164 | A → V in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_005165 | 2191 | R → W1 Publication | 1 | |
Natural variantiVAR_023543 | 2299 | N → T1 Publication | 1 | |
Natural variantiVAR_005166 | 2305 – 2366 | Missing in DMD. Add BLAST | 62 | |
Natural variantiVAR_005167 | 2366 | K → Q2 PublicationsCorresponds to variant dbSNP:rs1800275EnsemblClinVar. | 1 | |
Natural variantiVAR_005168 | 2910 | E → V1 PublicationCorresponds to variant dbSNP:rs41305353EnsemblClinVar. | 1 | |
Natural variantiVAR_005169 | 2912 | N → D1 PublicationCorresponds to variant dbSNP:rs1800278EnsemblClinVar. | 1 | |
Natural variantiVAR_005170 | 2921 | H → R in BMD. Corresponds to variant dbSNP:rs1800279EnsemblClinVar. | 1 | |
Natural variantiVAR_005171 | 2937 | Q → R3 PublicationsCorresponds to variant dbSNP:rs1800280Ensembl. | 1 | |
Natural variantiVAR_023544 | 3228 | F → L in CMD3B. 1 Publication | 1 | |
Natural variantiVAR_023545 | 3313 | C → F in DMD; results in highly reduced protein levels and expression at the sarcolemma. 2 Publications | 1 | |
Natural variantiVAR_023546 | 3335 | D → H in DMD; does not affect protein stability; does not affect protein expression at the sarcolemma; interaction with DAG1 is reduced. 2 Publications | 1 | |
Natural variantiVAR_023547 | 3340 | C → Y in DMD; results in highly reduced protein levels and expression at the sarcolemma. 2 Publications | 1 | |
Natural variantiVAR_005172 | 3421 | A → V in BMD. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017490 | 1 – 3068 | Missing in isoform 12, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17. 3 PublicationsAdd BLAST | 3068 | |
Alternative sequenceiVSP_060276 | 1 – 2729 | Missing in isoform 11. Add BLAST | 2729 | |
Alternative sequenceiVSP_060275 | 1 – 2460 | Missing in isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10. Add BLAST | 2460 | |
Alternative sequenceiVSP_006809 | 1 – 11 | MLWWEEVEDCY → MED in isoform 2. 1 PublicationAdd BLAST | 11 | |
Alternative sequenceiVSP_060274 | 1 – 11 | MLWWEEVEDCY → MSEVSSD in isoform 3. Add BLAST | 11 | |
Alternative sequenceiVSP_006806 | 1 | M → MTEIILLIFFPAYFLN in isoform 4. | 1 | |
Alternative sequenceiVSP_006808 | 1 | M → MSARKLRNLSYKK in isoform 5. Curated | 1 | |
Alternative sequenceiVSP_006807 | 2 – 1357 | Missing in isoform 4 and isoform 5. Add BLAST | 1356 | |
Alternative sequenceiVSP_060277 | 2730 – 2739 | GVKELMKQWQ → MLHRKTYHVK in isoform 11. | 10 | |
Alternative sequenceiVSP_017491 | 3069 – 3075 | KVPYYIN → MREQLKG in isoform 12, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17. 3 Publications | 7 | |
Alternative sequenceiVSP_060278 | 3409 – 3685 | Missing in isoform 17. Add BLAST | 277 | |
Alternative sequenceiVSP_046319 | 3409 – 3518 | Missing in isoform 7, isoform 10 and isoform 16. Add BLAST | 110 | |
Alternative sequenceiVSP_017492 | 3409 – 3421 | Missing in isoform 9, isoform 13 and isoform 15. 3 PublicationsAdd BLAST | 13 | |
Alternative sequenceiVSP_017493 | 3673 – 3685 | RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE in isoform 8, isoform 9, isoform 10, isoform 14, isoform 15 and isoform 16. 3 PublicationsAdd BLAST | 13 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000361471; ENSP00000354464; ENSG00000198947 [P11532-5] ENST00000378680; ENSP00000367951; ENSG00000198947 [P11532-9] ENST00000378702; ENSP00000367974; ENSG00000198947 [P11532-7] ENST00000378723; ENSP00000367997; ENSG00000198947 [P11532-6] |
GeneIDi | 1756 |
KEGGi | hsa:1756 |
UCSCi | uc004dcm.2, human [P11532-1] uc004dcq.1, human uc004dcr.1, human uc004dct.1, human uc004dcu.2, human uc004dcv.1, human uc004dcy.2, human |
Keywords - Coding sequence diversityi
Alternative promoter usage, Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
DMD Dystrophin Mutation Database |
SHMPD The Singapore human mutation and polymorphism database |
Wikipedia Dystrophin entry |
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1DXX | X-ray | 2.60 | A/B/C/D | 1-246 | [»] | |
1EG3 | X-ray | 2.00 | A | 3046-3306 | [»] | |
1EG4 | X-ray | 2.00 | A | 3046-3306 | [»] | |
3UUN | X-ray | 2.30 | A/B | 338-456 | [»] | |
SASBDBi | P11532 | |||||
SMRi | P11532 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108096, 66 interactors |
DIPi | DIP-32593N |
IntActi | P11532, 54 interactors |
MINTi | P11532 |
STRINGi | 9606.ENSP00000354923 |
Chemistry databases
DrugBanki | DB15593, Golodirsen |
Protein family/group databases
TCDBi | 8.A.66.1.2, the dystrophin (dystrophin) family |
PTM databases
CarbonylDBi | P11532 |
iPTMneti | P11532 |
PhosphoSitePlusi | P11532 |
SwissPalmi | P11532 |
Polymorphism and mutation databases
BioMutai | DMD |
DMDMi | 313104240 |
Proteomic databases
EPDi | P11532 |
jPOSTi | P11532 |
MassIVEi | P11532 |
MaxQBi | P11532 |
PaxDbi | P11532 |
PeptideAtlasi | P11532 |
PRIDEi | P11532 |
ProteomicsDBi | 17631 17635 17951 19709 19712 25166 29059 52788 [P11532-1] 52789 [P11532-2] 52790 [P11532-3] 52791 [P11532-4] 52792 [P11532-5] 52793 [P11532-6] |
Protocols and materials databases
Antibodypediai | 476, 613 antibodies |
DNASUi | 1756 |
Genome annotation databases
Ensembli | ENST00000361471; ENSP00000354464; ENSG00000198947 [P11532-5] ENST00000378680; ENSP00000367951; ENSG00000198947 [P11532-9] ENST00000378702; ENSP00000367974; ENSG00000198947 [P11532-7] ENST00000378723; ENSP00000367997; ENSG00000198947 [P11532-6] |
GeneIDi | 1756 |
KEGGi | hsa:1756 |
UCSCi | uc004dcm.2, human [P11532-1] uc004dcq.1, human uc004dcr.1, human uc004dct.1, human uc004dcu.2, human uc004dcv.1, human uc004dcy.2, human |
Organism-specific databases
CTDi | 1756 |
DisGeNETi | 1756 |
EuPathDBi | HostDB:ENSG00000198947.15 |
GeneCardsi | DMD |
GeneReviewsi | DMD |
HGNCi | HGNC:2928, DMD |
HPAi | ENSG00000198947, Low tissue specificity |
MalaCardsi | DMD |
MIMi | 300376, phenotype 300377, gene 302045, phenotype 310200, phenotype |
neXtProti | NX_P11532 |
OpenTargetsi | ENSG00000198947 |
Orphaneti | 98895, Becker muscular dystrophy 98896, Duchenne muscular dystrophy 154, Familial isolated dilated cardiomyopathy 206546, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 777, X-linked non-syndromic intellectual disability |
PharmGKBi | PA27378 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4286, Eukaryota |
GeneTreei | ENSGT00940000154342 |
HOGENOMi | CLU_001187_1_2_1 |
InParanoidi | P11532 |
OrthoDBi | 924518at2759 |
PhylomeDBi | P11532 |
TreeFami | TF320178 |
Enzyme and pathway databases
PathwayCommonsi | P11532 |
Reactomei | R-HSA-3000171, Non-integrin membrane-ECM interactions R-HSA-390522, Striated Muscle Contraction |
SignaLinki | P11532 |
SIGNORi | P11532 |
Miscellaneous databases
BioGRID-ORCSi | 1756, 2 hits in 476 CRISPR screens |
ChiTaRSi | DMD, human |
EvolutionaryTracei | P11532 |
GeneWikii | Dystrophin |
GenomeRNAii | 1756 |
Pharosi | P11532, Tbio |
PROi | PR:P11532 |
RNActi | P11532, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000198947, Expressed in trigeminal ganglion and 247 other tissues |
ExpressionAtlasi | P11532, baseline and differential |
Genevisiblei | P11532, HS |
Family and domain databases
CDDi | cd00014, CH, 2 hits cd00201, WW, 1 hit |
Gene3Di | 1.10.418.10, 2 hits 3.30.60.90, 1 hit |
IDEALi | IID00267 |
InterProi | View protein in InterPro IPR001589, Actinin_actin-bd_CS IPR001715, CH-domain IPR036872, CH_dom_sf IPR035436, Dystrophin/utrophin IPR011992, EF-hand-dom_pair IPR015153, EF-hand_dom_typ1 IPR015154, EF-hand_dom_typ2 IPR018159, Spectrin/alpha-actinin IPR002017, Spectrin_repeat IPR001202, WW_dom IPR036020, WW_dom_sf IPR000433, Znf_ZZ IPR043145, Znf_ZZ_sf |
Pfami | View protein in Pfam PF00307, CH, 2 hits PF09068, EF-hand_2, 1 hit PF09069, EF-hand_3, 1 hit PF00435, Spectrin, 17 hits PF00397, WW, 1 hit PF00569, ZZ, 1 hit |
PIRSFi | PIRSF002341, Dystrophin/utrophin, 1 hit |
SMARTi | View protein in SMART SM00033, CH, 2 hits SM00150, SPEC, 22 hits SM00456, WW, 1 hit SM00291, ZnF_ZZ, 1 hit |
SUPFAMi | SSF47473, SSF47473, 2 hits SSF47576, SSF47576, 1 hit SSF51045, SSF51045, 1 hit |
PROSITEi | View protein in PROSITE PS00019, ACTININ_1, 1 hit PS00020, ACTININ_2, 1 hit PS50021, CH, 2 hits PS01159, WW_DOMAIN_1, 1 hit PS50020, WW_DOMAIN_2, 1 hit PS01357, ZF_ZZ_1, 1 hit PS50135, ZF_ZZ_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DMD_HUMAN | |
Accessioni | P11532Primary (citable) accession number: P11532 Secondary accession number(s): A1L0U9 Q9UCW4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1989 |
Last sequence update: | November 30, 2010 | |
Last modified: | December 2, 2020 | |
This is version 247 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations