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Protein
Submitted name:

Dystrophin

Gene

DMD

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActin-bindingUniRule annotationSAAS annotation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Submitted name:
DystrophinImported
Gene namesi
Name:DMDImported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000198947.15.
HGNCiHGNC:2928. DMD.

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 membraneUniRule annotation, Cytoplasm, CytoskeletonUniRule annotation, Membrane, Postsynaptic cell membraneUniRule annotation, Synapse

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000198947.

PTM / Processingi

Proteomic databases

PeptideAtlasiA0A075B6G3.
PRIDEiA0A075B6G3.

Expressioni

Gene expression databases

BgeeiENSG00000198947.
ExpressionAtlasiA0A075B6G3. baseline and differential.

Interactioni

GO - Molecular functioni

Structurei

3D structure databases

ProteinModelPortaliA0A075B6G3.
SMRiA0A075B6G3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini15 – 119Calponin-homology (CH)InterPro annotationAdd BLAST105
Domaini134 – 237Calponin-homology (CH)InterPro annotationAdd BLAST104
Domaini3055 – 3088WWInterPro annotationAdd BLAST34
Domaini3307 – 3354ZZ-typeInterPro annotationAdd BLAST48

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili457 – 477Sequence analysisAdd BLAST21
Coiled coili483 – 506Sequence analysisAdd BLAST24
Coiled coili756 – 783Sequence analysisAdd BLAST28
Coiled coili972 – 992Sequence analysisAdd BLAST21
Coiled coili1033 – 1060Sequence analysisAdd BLAST28
Coiled coili1190 – 1220Sequence analysisAdd BLAST31
Coiled coili1299 – 1319Sequence analysisAdd BLAST21
Coiled coili1355 – 1375Sequence analysisAdd BLAST21
Coiled coili1824 – 1844Sequence analysisAdd BLAST21
Coiled coili1912 – 1939Sequence analysisAdd BLAST28
Coiled coili2189 – 2219Sequence analysisAdd BLAST31
Coiled coili2316 – 2343Sequence analysisAdd BLAST28
Coiled coili2403 – 2423Sequence analysisAdd BLAST21
Coiled coili2503 – 2547Sequence analysisAdd BLAST45
Coiled coili2554 – 2574Sequence analysisAdd BLAST21
Coiled coili2589 – 2609Sequence analysisAdd BLAST21
Coiled coili2922 – 2956Sequence analysisAdd BLAST35
Coiled coili3496 – 3530Sequence analysisAdd BLAST35
Coiled coili3569 – 3603Sequence analysisAdd BLAST35

Keywords - Domaini

Coiled coilSequence analysis, RepeatSAAS annotation, Zinc-fingerPROSITE-ProRule annotationSAAS annotation

Phylogenomic databases

eggNOGiKOG4286. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000119237.
OMAiLWLEEAD.
OrthoDBiEOG091G001Y.
PhylomeDBiA0A075B6G3.

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.
IPR036872. Calponin-like_dom_sf.
IPR001715. CH-domain.
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.

Sequencei

Sequence statusi: Complete.

A0A075B6G3-1 [UniParc]FASTAAdd to basket

« 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 ETLERLRELQ 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):426,778
Last modified:October 1, 2014 - v1
Checksum:i2DBDFB589C7BDC71
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC006061 Genomic DNA. No translation available.
AC078957 Genomic DNA. No translation available.
AC078958 Genomic DNA. No translation available.
AC079143 Genomic DNA. No translation available.
AC079175 Genomic DNA. No translation available.
AC079177 Genomic DNA. No translation available.
AC079864 Genomic DNA. No translation available.
AC090632 Genomic DNA. No translation available.
AC093167 Genomic DNA. No translation available.
AC093193 Genomic DNA. No translation available.

Genome annotation databases

EnsembliENST00000357033; ENSP00000354923; ENSG00000198947.
UCSCiuc004dda.2. human.

Similar proteinsi

Entry informationi

Entry nameiA0A075B6G3_HUMAN
AccessioniPrimary (citable) accession number: A0A075B6G3
Entry historyiIntegrated into UniProtKB/TrEMBL: October 1, 2014
Last sequence update: October 1, 2014
Last modified: January 31, 2018
This is version 35 of the entry and version 1 of the sequence. See complete history.
Entry statusiUnreviewed (UniProtKB/TrEMBL)
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

Caution

The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.Imported

Keywords - Technical termi

Complete proteome, Proteomics identificationCombined sources, Reference proteomeImported