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UniProtKB - P11532 (DMD_HUMAN)

Protein

Dystrophin

Gene

DMD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.By similarity1 Publication

Miscellaneous

The DMD gene is the largest known gene in humans. It is 2.4 million base-pairs in size, comprises 79 exons and takes over 16 hours to be transcribed and cotranscriptionally spliced.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri3307 – 3354ZZ-typePROSITE-ProRule annotationAdd BLAST48

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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActin-binding
LigandCalcium, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-390522 Striated Muscle Contraction
SignaLinkiP11532
SIGNORiP11532

Protein family/group databases

TCDBi8.A.66.1.2 the dystrophin (dystrophin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Dystrophin
Gene namesi
Name:DMD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000198947.15
HGNCiHGNC:2928 DMD
MIMi300377 gene
neXtProtiNX_P11532

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Duchenne muscular dystrophy (DMD)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMost common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.
See also OMIM:310200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00514754L → R in DMD. 1 Publication1
Natural variantiVAR_023541645D → G in DMD. 1 Publication1
Natural variantiVAR_005154773K → E in DMD. 1
Natural variantiVAR_0051662305 – 2366Missing in DMD. Add BLAST62
Natural variantiVAR_0235453313C → F in DMD; results in highly reduced protein levels and expression at the sarcolemma. 2 Publications1
Natural variantiVAR_0235463335D → H in DMD; does not affect protein stability; does not affect protein expression at the sarcolemma; interaction with DAG1 is reduced. 2 Publications1
Natural variantiVAR_0235473340C → Y in DMD; results in highly reduced protein levels and expression at the sarcolemma. 2 Publications1
Becker muscular dystrophy (BMD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy.
See also OMIM:300376
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00514632 – 62Missing in BMD. Add BLAST31
Natural variantiVAR_005149168A → D in BMD. 1
Natural variantiVAR_023539171A → P in BMD. 1 Publication1
Natural variantiVAR_005150231Y → N in BMD. 1
Natural variantiVAR_005152495 – 534Missing in BMD. Add BLAST40
Natural variantiVAR_0051702921H → R in BMD. Corresponds to variant dbSNP:rs1800279EnsemblClinVar.1
Natural variantiVAR_0051723421A → V in BMD. 1
Cardiomyopathy, dilated, X-linked 3B (CMD3B)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:302045
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02353718K → N in CMD3B; decreased thermodynamic stability; accelerated unfolding, perturbed protein structure; no effect on anchoring function. 2 Publications1
Natural variantiVAR_023540279T → A in CMD3B. 1 Publication1
Natural variantiVAR_0235443228F → L in CMD3B. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi1756
GeneReviewsiDMD
MalaCardsiDMD
MIMi300376 phenotype
302045 phenotype
310200 phenotype
OpenTargetsiENSG00000198947
Orphaneti98895 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
PharmGKBiPA27378

Polymorphism and mutation databases

BioMutaiDMD
DMDMi313104240

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000760751 – 3685DystrophinAdd BLAST3685

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei3483PhosphoserineCombined sources1
Modified residuei3490PhosphoserineCombined sources1
Modified residuei3500PhosphoserineCombined sources1
Modified residuei3612PhosphoserineCombined sources1
Modified residuei3613PhosphoserineCombined sources1
Modified residuei3617PhosphoserineCombined sources1
Modified residuei3623PhosphoserineCombined sources1
Modified residuei3624PhosphoserineCombined sources1
Modified residuei3666PhosphoserineCombined sources1
Isoform 5 (identifier: P11532-5)
Modified residuei340PhosphothreonineCombined sources1
Modified residuei344PhosphoserineCombined sources1
Modified residuei348PhosphoserineCombined sources1
Modified residuei616PhosphothreonineCombined sources1
Isoform 8 (identifier: P11532-8)
Modified residuei340PhosphothreonineCombined sources1
Modified residuei344PhosphoserineCombined sources1
Modified residuei348PhosphoserineCombined sources1
Isoform 9 (identifier: P11532-9)
Modified residuei519PhosphothreonineCombined sources1
Isoform 6 (identifier: P11532-6)
Modified residuei629PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP11532
MaxQBiP11532
PaxDbiP11532
PeptideAtlasiP11532
PRIDEiP11532
ProteomicsDBi52788
52789 [P11532-2]
52790 [P11532-3]
52791 [P11532-4]
52792 [P11532-5]
52793 [P11532-6]

PTM databases

CarbonylDBiP11532
iPTMnetiP11532
PhosphoSitePlusiP11532
SwissPalmiP11532

Expressioni

Tissue specificityi

Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Isoform 5 is expressed in heart, brain, liver, testis and hepatoma cells. Most tissues contain transcripts of multiple isoforms, however only isoform 5 is detected in heart and liver.3 Publications

Developmental stagei

Isoform 5 is expressed in embryonic neural tissue from the sixth week of development. Isoform 9 is detected in all embryonic tissues examined.1 Publication

Gene expression databases

BgeeiENSG00000198947 Expressed in 234 organ(s), highest expression level in trigeminal ganglion
CleanExiHS_DMD
ExpressionAtlasiP11532 baseline and differential
GenevisibleiP11532 HS

Organism-specific databases

HPAiCAB000119
HPA002725
HPA023885

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 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108096, 57 interactors
DIPiDIP-32593N
IntActiP11532, 23 interactors
MINTiP11532
STRINGi9606.ENSP00000354923

Structurei

Secondary structure

13685
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP11532
SMRiP11532
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP11532

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini15 – 119Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST105
Domaini134 – 240Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST107
Repeati339 – 447Spectrin 1Add BLAST109
Repeati448 – 556Spectrin 2Add BLAST109
Repeati559 – 667Spectrin 3Add BLAST109
Repeati719 – 828Spectrin 4Add BLAST110
Repeati830 – 934Spectrin 5Add BLAST105
Repeati943 – 1045Spectrin 6Add BLAST103
Repeati1048 – 1154Spectrin 7Add BLAST107
Repeati1157 – 1263Spectrin 8Add BLAST107
Repeati1266 – 1367Spectrin 9Add BLAST102
Repeati1368 – 1463Spectrin 10Add BLAST96
Repeati1468 – 1568Spectrin 11Add BLAST101
Repeati1571 – 1676Spectrin 12Add BLAST106
Repeati1679 – 1778Spectrin 13Add BLAST100
Repeati1779 – 1874Spectrin 14Add BLAST96
Repeati1877 – 1979Spectrin 15Add BLAST103
Repeati1992 – 2101Spectrin 16Add BLAST110
Repeati2104 – 2208Spectrin 17Add BLAST105
Repeati2211 – 2318Spectrin 18Add BLAST108
Repeati2319 – 2423Spectrin 19Add BLAST105
Repeati2475 – 2577Spectrin 20Add BLAST103
Repeati2580 – 2686Spectrin 21Add BLAST107
Repeati2689 – 2802Spectrin 22Add BLAST114
Repeati2808 – 2930Spectrin 23Add BLAST123
Repeati2935 – 3040Spectrin 24Add BLAST106
Domaini3055 – 3088WWPROSITE-ProRule annotationAdd BLAST34

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 240Actin-bindingAdd BLAST240
Regioni63 – 72ANK2- and ANK-3 bindingBy similarity10
Regioni1415 – 1913Interaction with SYNMBy similarityAdd BLAST499
Regioni3058 – 3408Interaction with SYNMBy similarityAdd BLAST351
Regioni3466 – 3518Binds to SNTB1Add BLAST53

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri3307 – 3354ZZ-typePROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG4286 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00760000119237
HOGENOMiHOG000231175
HOVERGENiHBG053790
InParanoidiP11532
KOiK10366
PhylomeDBiP11532
TreeFamiTF320178

Family and domain databases

CDDicd00014 CH, 2 hits
cd00201 WW, 1 hit
Gene3Di1.10.418.10, 2 hits
InterProiView protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR016344 Dystrophin
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
PANTHERiPTHR44318:SF1 PTHR44318:SF1, 1 hit
PfamiView 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
PIRSFiPIRSF002341 Dystrophin/utrophin, 1 hit
SMARTiView protein in SMART
SM00033 CH, 2 hits
SM00150 SPEC, 22 hits
SM00456 WW, 1 hit
SM00291 ZnF_ZZ, 1 hit
SUPFAMiSSF47473 SSF47473, 2 hits
SSF47576 SSF47576, 1 hit
SSF51045 SSF51045, 1 hit
PROSITEiView 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

Sequences (10+)i

Sequence statusi: Complete.

This entry describes 10 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 10 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All

Isoform 4 (identifier: P11532-1) [UniParc]FASTAAdd to basket
Also known as: Dystrophin-4

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:3,685
Mass (Da):426,750
Last modified:November 30, 2010 - v3
Checksum:i24FF7E83F1E6BF8D
GO
Isoform 1 (identifier: P11532-2) [UniParc]FASTAAdd to basket
Also known as: Dystrophin-1

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MTEIILLIFFPAYFLN
     2-1357: Missing.

Show »
Length:2,344
Mass (Da):271,391
Checksum:i50AF557D10DD0B23
GO
Isoform 2 (identifier: P11532-3) [UniParc]FASTAAdd to basket
Also known as: Dystrophin-2

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSARKLRNLSYKK
     2-1357: Missing.

Show »
Length:2,341
Mass (Da):271,040
Checksum:i5A695D20AE07D801
GO
Isoform 3 (identifier: P11532-4) [UniParc]FASTAAdd to basket
Also known as: Dystrophin-3

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MLWWEEVEDCY → MED

Show »
Length:3,677
Mass (Da):425,640
Checksum:i234A6D63F4910420
GO
Isoform 5 (identifier: P11532-5) [UniParc]FASTAAdd to basket
Also known as: Dp71ab

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

Show »
Length:622
Mass (Da):70,750
Checksum:i75D44165427FAB8B
GO
Isoform 6 (identifier: P11532-6) [UniParc]FASTAAdd to basket
Also known as: Dp71b

The sequence of this isoform differs from the canonical sequence as follows:
     1-3068: Missing.
     3069-3075: KVPYYIN → MREQLKG
     3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE

Note: No experimental confirmation available.Combined sources
Show »
Length:635
Mass (Da):72,191
Checksum:i5EB1E49C45CF34EC
GO
Isoform 7 (identifier: P11532-7) [UniParc]FASTAAdd to basket
Also known as: Dp71

The sequence of this isoform differs from the canonical sequence as follows:
     1-3068: Missing.
     3069-3075: KVPYYIN → MREQLKG

Show »
Length:617
Mass (Da):70,375
Checksum:i660C9D904AF403B9
GO
Isoform 8 (identifier: P11532-8) [UniParc]FASTAAdd to basket
Also known as: Dp71a

The sequence of this isoform differs from the canonical sequence as follows:
     1-3068: Missing.
     3069-3075: KVPYYIN → MREQLKG
     3409-3421: Missing.

Note: No experimental confirmation available.Combined sources
Show »
Length:604
Mass (Da):68,934
Checksum:i08BDA0A428FAA9F4
GO
Isoform 9 (identifier: P11532-9) [UniParc]FASTAAdd to basket
Also known as: Dp60, Dp71delta110

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

Show »
Length:525
Mass (Da):59,769
Checksum:iD597517BCE4D9FD1
GO
Isoform 10 (identifier: P11532-10) [UniParc]FASTAAdd to basket
Also known as: Dp71c

The sequence of this isoform differs from the canonical sequence as follows:
     1-3068: Missing.
     3069-3075: KVPYYIN → MREQLKG
     3409-3518: Missing.

Show »
Length:507
Mass (Da):57,953
Checksum:i3F4518D23592BF1D
GO

Computationally mapped potential isoform sequencesi

There are 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A075B6G3A0A075B6G3_HUMAN
Dystrophin
DMD
3,685Annotation score:
E9PDN5E9PDN5_HUMAN
Dystrophin
DMD
3,681Annotation score:
A0A087WV90A0A087WV90_HUMAN
Dystrophin
DMD
3,680Annotation score:
A0A087WTU7A0A087WTU7_HUMAN
Dystrophin
DMD
3,684Annotation score:
H0Y304H0Y304_HUMAN
Dystrophin
DMD
1,386Annotation score:
F5GZY3F5GZY3_HUMAN
Dystrophin
DMD
1,115Annotation score:
E7EQS5E7EQS5_HUMAN
Dystrophin
DMD
1,225Annotation score:
F8VX32F8VX32_HUMAN
Dystrophin
DMD
1,230Annotation score:
E7ESB2E7ESB2_HUMAN
Dystrophin
DMD
1,243Annotation score:
E7EQR9E7EQR9_HUMAN
Dystrophin
DMD
956Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti664Q → QM in CAA29544 (PubMed:3428261).Curated1
Sequence conflicti2361G → E in CAA38589 (Ref. 13) Curated1
Sequence conflicti3542P → T in AAH70078 (PubMed:15489334).Curated1
Sequence conflicti3546M → V in AAH70078 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02353718K → N in CMD3B; decreased thermodynamic stability; accelerated unfolding, perturbed protein structure; no effect on anchoring function. 2 Publications1
Natural variantiVAR_00514632 – 62Missing in BMD. Add BLAST31
Natural variantiVAR_00514754L → R in DMD. 1 Publication1
Natural variantiVAR_065764118W → R in a patient with Becker muscular dystrophy. 1 Publication1
Natural variantiVAR_005148133Q → P1 PublicationCorresponds to variant dbSNP:rs1800256Ensembl.1
Natural variantiVAR_023538165D → V in one patient with Becker muscular dystrophy. 1 Publication1
Natural variantiVAR_005149168A → D in BMD. 1
Natural variantiVAR_023539171A → P in BMD. 1 Publication1
Natural variantiVAR_005150231Y → N in BMD. 1
Natural variantiVAR_023540279T → A in CMD3B. 1 Publication1
Natural variantiVAR_036353334L → F in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_005151365Q → H1 PublicationCorresponds to variant dbSNP:rs1800266EnsemblClinVar.1
Natural variantiVAR_057642409T → S. Corresponds to variant dbSNP:rs34155804EnsemblClinVar.1
Natural variantiVAR_005152495 – 534Missing in BMD. Add BLAST40
Natural variantiVAR_057643573A → V. Corresponds to variant dbSNP:rs5972599EnsemblClinVar.1
Natural variantiVAR_005153623L → I1 PublicationCorresponds to variant dbSNP:rs1800259Ensembl.1
Natural variantiVAR_023541645D → G in DMD. 1 Publication1
Natural variantiVAR_062110666S → L. Corresponds to variant dbSNP:rs34563188EnsemblClinVar.1
Natural variantiVAR_057644715T → S. Corresponds to variant dbSNP:rs16998350EnsemblClinVar.1
Natural variantiVAR_005154773K → E in DMD. 1
Natural variantiVAR_005155784A → G1 PublicationCorresponds to variant dbSNP:rs1800260Ensembl.1
Natural variantiVAR_005156882D → G3 PublicationsCorresponds to variant dbSNP:rs228406Ensembl.1
Natural variantiVAR_0576451136T → S. Corresponds to variant dbSNP:rs3827462EnsemblClinVar.1
Natural variantiVAR_0051571197V → F1 PublicationCorresponds to variant dbSNP:rs1800262Ensembl.1
Natural variantiVAR_0363541219E → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0051581245T → I. Corresponds to variant dbSNP:rs1800269EnsemblClinVar.1
Natural variantiVAR_0051591278A → P. Corresponds to variant dbSNP:rs1800270Ensembl.1
Natural variantiVAR_0051601377K → N1 PublicationCorresponds to variant dbSNP:rs1800263Ensembl.1
Natural variantiVAR_0576461388F → V. Corresponds to variant dbSNP:rs28715870EnsemblClinVar.1
Natural variantiVAR_0051611469Q → L1 PublicationCorresponds to variant dbSNP:rs1057872Ensembl.1
Natural variantiVAR_0363551470R → H in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0235421672N → K1 PublicationCorresponds to variant dbSNP:rs16990264EnsemblClinVar.1
Natural variantiVAR_0051621745R → H1 PublicationCorresponds to variant dbSNP:rs1801187EnsemblClinVar.1
Natural variantiVAR_0051631844R → S1 PublicationCorresponds to variant dbSNP:rs1801186Ensembl.1
Natural variantiVAR_0576472108R → C. Corresponds to variant dbSNP:rs16990169EnsemblClinVar.1
Natural variantiVAR_0051642155R → W1 PublicationCorresponds to variant dbSNP:rs1800273EnsemblClinVar.1
Natural variantiVAR_0363562164A → V in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0051652191R → W1 Publication1
Natural variantiVAR_0235432299N → T1 Publication1
Natural variantiVAR_0051662305 – 2366Missing in DMD. Add BLAST62
Natural variantiVAR_0051672366K → Q2 PublicationsCorresponds to variant dbSNP:rs1800275Ensembl.1
Natural variantiVAR_0051682910E → V1 PublicationCorresponds to variant dbSNP:rs41305353EnsemblClinVar.1
Natural variantiVAR_0051692912N → D1 PublicationCorresponds to variant dbSNP:rs1800278EnsemblClinVar.1
Natural variantiVAR_0051702921H → R in BMD. Corresponds to variant dbSNP:rs1800279EnsemblClinVar.1
Natural variantiVAR_0051712937Q → R3 PublicationsCorresponds to variant dbSNP:rs1800280EnsemblClinVar.1
Natural variantiVAR_0235443228F → L in CMD3B. 1 Publication1
Natural variantiVAR_0235453313C → F in DMD; results in highly reduced protein levels and expression at the sarcolemma. 2 Publications1
Natural variantiVAR_0235463335D → H in DMD; does not affect protein stability; does not affect protein expression at the sarcolemma; interaction with DAG1 is reduced. 2 Publications1
Natural variantiVAR_0235473340C → Y in DMD; results in highly reduced protein levels and expression at the sarcolemma. 2 Publications1
Natural variantiVAR_0051723421A → V in BMD. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0174901 – 3068Missing in isoform 5, isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10. 3 PublicationsAdd BLAST3068
Alternative sequenceiVSP_0068091 – 11MLWWEEVEDCY → MED in isoform 3. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_0068061M → MTEIILLIFFPAYFLN in isoform 1. Curated1
Alternative sequenceiVSP_0068081M → MSARKLRNLSYKK in isoform 2. Curated1
Alternative sequenceiVSP_0068072 – 1357Missing in isoform 1 and isoform 2. CuratedAdd BLAST1356
Alternative sequenceiVSP_0174913069 – 3075KVPYYIN → MREQLKG in isoform 5, isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10. 3 Publications7
Alternative sequenceiVSP_0463193409 – 3518Missing in isoform 9 and isoform 10. CuratedAdd BLAST110
Alternative sequenceiVSP_0174923409 – 3421Missing in isoform 5 and isoform 8. 3 PublicationsAdd BLAST13
Alternative sequenceiVSP_0174933673 – 3685RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE in isoform 5, isoform 6 and isoform 9. 3 PublicationsAdd BLAST13

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M18533 mRNA Translation: AAA53189.1
X14298 mRNA Translation: CAA32479.1
M92650 mRNA Translation: AAA52316.1
AL031542
, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031643, AL096699, AL109609, AL139278, AL451144 Genomic DNA Translation: CAI42229.1
AL031643
, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL096699, AL109609, AL139278, AL451144 Genomic DNA Translation: CAI43058.1
AL049643 Genomic DNA No translation available.
AL050305 Genomic DNA No translation available.
AL096699
, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL031643, AL109609, AL139278, AL451144 Genomic DNA Translation: CAI42225.1
AL109609
, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL031643, AL096699, AL139278, AL451144 Genomic DNA Translation: CAI42950.1
AL121880 Genomic DNA No translation available.
AL139278
, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL031643, AL096699, AL109609, AL451144 Genomic DNA Translation: CAI42991.1
AL139401 Genomic DNA No translation available.
AL451144
, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL031643, AL096699, AL109609, AL139278 Genomic DNA Translation: CAI39566.1
AL596023 Genomic DNA No translation available.
CH471074 Genomic DNA Translation: EAW99065.1
BC028720 mRNA Translation: AAH28720.1
BC070078 mRNA Translation: AAH70078.1
BC094758 mRNA Translation: AAH94758.1
U27203 Genomic DNA Translation: AAA86115.1
U27203 Genomic DNA Translation: AAA86116.1
X15148 mRNA Translation: CAA33245.1
X06178 mRNA Translation: CAA29544.1
X06179 mRNA Translation: CAA29545.1
X13045 Genomic DNA Translation: CAA31451.1
X13046 Genomic DNA Translation: CAA31452.1
X13047 Genomic DNA Translation: CAA31453.1
X13048 Genomic DNA Translation: CAA31454.1
X15495 Genomic DNA Translation: CAA33518.1
X54820 Genomic DNA Translation: CAA38589.1
CCDSiCCDS14231.1 [P11532-6]
CCDS14232.1 [P11532-5]
CCDS14233.1 [P11532-1]
CCDS14234.1 [P11532-7]
PIRiA45255
RefSeqiNP_000100.2, NM_000109.3
NP_003997.1, NM_004006.2
NP_004000.1, NM_004009.3
NP_004001.1, NM_004010.3
NP_004002.2, NM_004011.3
NP_004003.1, NM_004012.3
NP_004004.1, NM_004013.2
NP_004005.1, NM_004014.2
NP_004006.1, NM_004015.2 [P11532-7]
NP_004007.1, NM_004016.2 [P11532-6]
NP_004008.1, NM_004017.2 [P11532-8]
NP_004009.1, NM_004018.2 [P11532-5]
NP_004010.1, NM_004019.2
NP_004011.2, NM_004020.3
NP_004012.1, NM_004021.2
NP_004013.1, NM_004022.2
NP_004014.1, NM_004023.2
UniGeneiHs.495912

Genome annotation databases

EnsembliENST00000361471; ENSP00000354464; ENSG00000198947 [P11532-5]
ENST00000378680; ENSP00000367951; ENSG00000198947 [P11532-9]
ENST00000378702; ENSP00000367974; ENSG00000198947 [P11532-7]
ENST00000378723; ENSP00000367997; ENSG00000198947 [P11532-6]
GeneIDi1756
KEGGihsa:1756
UCSCiuc004dcm.2 human [P11532-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

DMD

Dystrophin Mutation Database

SHMPD

The Singapore human mutation and polymorphism database

Wikipedia

Dystrophin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M18533 mRNA Translation: AAA53189.1
X14298 mRNA Translation: CAA32479.1
M92650 mRNA Translation: AAA52316.1
AL031542
, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031643, AL096699, AL109609, AL139278, AL451144 Genomic DNA Translation: CAI42229.1
AL031643
, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL096699, AL109609, AL139278, AL451144 Genomic DNA Translation: CAI43058.1
AL049643 Genomic DNA No translation available.
AL050305 Genomic DNA No translation available.
AL096699
, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL031643, AL109609, AL139278, AL451144 Genomic DNA Translation: CAI42225.1
AL109609
, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL031643, AL096699, AL139278, AL451144 Genomic DNA Translation: CAI42950.1
AL121880 Genomic DNA No translation available.
AL139278
, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL031643, AL096699, AL109609, AL451144 Genomic DNA Translation: CAI42991.1
AL139401 Genomic DNA No translation available.
AL451144
, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL031643, AL096699, AL109609, AL139278 Genomic DNA Translation: CAI39566.1
AL596023 Genomic DNA No translation available.
CH471074 Genomic DNA Translation: EAW99065.1
BC028720 mRNA Translation: AAH28720.1
BC070078 mRNA Translation: AAH70078.1
BC094758 mRNA Translation: AAH94758.1
U27203 Genomic DNA Translation: AAA86115.1
U27203 Genomic DNA Translation: AAA86116.1
X15148 mRNA Translation: CAA33245.1
X06178 mRNA Translation: CAA29544.1
X06179 mRNA Translation: CAA29545.1
X13045 Genomic DNA Translation: CAA31451.1
X13046 Genomic DNA Translation: CAA31452.1
X13047 Genomic DNA Translation: CAA31453.1
X13048 Genomic DNA Translation: CAA31454.1
X15495 Genomic DNA Translation: CAA33518.1
X54820 Genomic DNA Translation: CAA38589.1
CCDSiCCDS14231.1 [P11532-6]
CCDS14232.1 [P11532-5]
CCDS14233.1 [P11532-1]
CCDS14234.1 [P11532-7]
PIRiA45255
RefSeqiNP_000100.2, NM_000109.3
NP_003997.1, NM_004006.2
NP_004000.1, NM_004009.3
NP_004001.1, NM_004010.3
NP_004002.2, NM_004011.3
NP_004003.1, NM_004012.3
NP_004004.1, NM_004013.2
NP_004005.1, NM_004014.2
NP_004006.1, NM_004015.2 [P11532-7]
NP_004007.1, NM_004016.2 [P11532-6]
NP_004008.1, NM_004017.2 [P11532-8]
NP_004009.1, NM_004018.2 [P11532-5]
NP_004010.1, NM_004019.2
NP_004011.2, NM_004020.3
NP_004012.1, NM_004021.2
NP_004013.1, NM_004022.2
NP_004014.1, NM_004023.2
UniGeneiHs.495912

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1DXXX-ray2.60A/B/C/D1-246[»]
1EG3X-ray2.00A3046-3306[»]
1EG4X-ray2.00A3046-3306[»]
3UUNX-ray2.30A/B338-456[»]
ProteinModelPortaliP11532
SMRiP11532
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108096, 57 interactors
DIPiDIP-32593N
IntActiP11532, 23 interactors
MINTiP11532
STRINGi9606.ENSP00000354923

Protein family/group databases

TCDBi8.A.66.1.2 the dystrophin (dystrophin) family

PTM databases

CarbonylDBiP11532
iPTMnetiP11532
PhosphoSitePlusiP11532
SwissPalmiP11532

Polymorphism and mutation databases

BioMutaiDMD
DMDMi313104240

Proteomic databases

EPDiP11532
MaxQBiP11532
PaxDbiP11532
PeptideAtlasiP11532
PRIDEiP11532
ProteomicsDBi52788
52789 [P11532-2]
52790 [P11532-3]
52791 [P11532-4]
52792 [P11532-5]
52793 [P11532-6]

Protocols and materials databases

DNASUi1756
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361471; ENSP00000354464; ENSG00000198947 [P11532-5]
ENST00000378680; ENSP00000367951; ENSG00000198947 [P11532-9]
ENST00000378702; ENSP00000367974; ENSG00000198947 [P11532-7]
ENST00000378723; ENSP00000367997; ENSG00000198947 [P11532-6]
GeneIDi1756
KEGGihsa:1756
UCSCiuc004dcm.2 human [P11532-1]

Organism-specific databases

CTDi1756
DisGeNETi1756
EuPathDBiHostDB:ENSG00000198947.15
GeneCardsiDMD
GeneReviewsiDMD
HGNCiHGNC:2928 DMD
HPAiCAB000119
HPA002725
HPA023885
MalaCardsiDMD
MIMi300376 phenotype
300377 gene
302045 phenotype
310200 phenotype
neXtProtiNX_P11532
OpenTargetsiENSG00000198947
Orphaneti98895 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
PharmGKBiPA27378
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4286 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00760000119237
HOGENOMiHOG000231175
HOVERGENiHBG053790
InParanoidiP11532
KOiK10366
PhylomeDBiP11532
TreeFamiTF320178

Enzyme and pathway databases

ReactomeiR-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-390522 Striated Muscle Contraction
SignaLinkiP11532
SIGNORiP11532

Miscellaneous databases

ChiTaRSiDMD human
EvolutionaryTraceiP11532
GeneWikiiDystrophin
GenomeRNAii1756
PROiPR:P11532
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198947 Expressed in 234 organ(s), highest expression level in trigeminal ganglion
CleanExiHS_DMD
ExpressionAtlasiP11532 baseline and differential
GenevisibleiP11532 HS

Family and domain databases

CDDicd00014 CH, 2 hits
cd00201 WW, 1 hit
Gene3Di1.10.418.10, 2 hits
InterProiView protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR016344 Dystrophin
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
PANTHERiPTHR44318:SF1 PTHR44318:SF1, 1 hit
PfamiView 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
PIRSFiPIRSF002341 Dystrophin/utrophin, 1 hit
SMARTiView protein in SMART
SM00033 CH, 2 hits
SM00150 SPEC, 22 hits
SM00456 WW, 1 hit
SM00291 ZnF_ZZ, 1 hit
SUPFAMiSSF47473 SSF47473, 2 hits
SSF47576 SSF47576, 1 hit
SSF51045 SSF51045, 1 hit
PROSITEiView 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
ProtoNetiSearch...

Entry informationi

Entry nameiDMD_HUMAN
AccessioniPrimary (citable) accession number: P11532
Secondary accession number(s): E9PDN1
, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3, Q9UCW4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: November 30, 2010
Last modified: November 7, 2018
This is version 230 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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