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E7EQR9

- E7EQR9_HUMAN

UniProt

E7EQR9 - E7EQR9_HUMAN

Protein
Submitted name:

Dystrophin

Gene

DMD

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 1 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 24 (01 Oct 2014)
      Sequence version 1 (08 Mar 2011)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. zinc ion binding Source: InterPro

    Enzyme and pathway databases

    SignaLinkiE7EQR9.

    Names & Taxonomyi

    Protein namesi
    Submitted name:
    DystrophinImported
    Gene namesi
    Name:DMDImported
    OrganismiHomo sapiens (Human)Imported
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:2928. DMD.

    Expressioni

    Gene expression databases

    ArrayExpressiE7EQR9.
    BgeeiE7EQR9.

    Structurei

    3D structure databases

    ProteinModelPortaliE7EQR9.
    SMRiE7EQR9. Positions 587-846, 849-901.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Keywords - Domaini

    RepeatSAAS annotation

    Family and domain databases

    Gene3Di1.10.238.10. 2 hits.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR015153. EF-hand_dom_typ1.
    IPR015154. EF-hand_dom_typ2.
    IPR018159. Spectrin/alpha-actinin.
    IPR002017. Spectrin_repeat.
    IPR001202. WW_dom.
    IPR000433. Znf_ZZ.
    [Graphical view]
    PfamiPF09068. EF-hand_2. 1 hit.
    PF09069. EF-hand_3. 1 hit.
    PF00435. Spectrin. 4 hits.
    PF00397. WW. 1 hit.
    PF00569. ZZ. 1 hit.
    [Graphical view]
    SMARTiSM00150. SPEC. 5 hits.
    SM00456. WW. 1 hit.
    SM00291. ZnF_ZZ. 1 hit.
    [Graphical view]
    SUPFAMiSSF51045. SSF51045. 1 hit.
    PROSITEiPS01159. WW_DOMAIN_1. 1 hit.
    PS50020. WW_DOMAIN_2. 1 hit.
    PS01357. ZF_ZZ_1. 1 hit.
    PS50135. ZF_ZZ_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    E7EQR9-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI     50
    IKQKATMQDL EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ 100
    WDEVQEHLQN RRQQLNEMLK DSTQWLEAKE EAEQVLGQAR AKLESWKEGP 150
    YTVDAIQKKI TETKQLAKDL RQWQTNVDVA NDLALKLLRD YSADDTRKVH 200
    MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK FLAWLTEAET 250
    TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ 300
    KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL 350
    HLSLQELLVW LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP 400
    VIMSTLETVR IFLTEQPLEG LEKLYQEPRE LPPEERAQNV TRLLRKQAEE 450
    VNTEWEKLNL HSADWQRKID ETLERLRELQ EATDELDLKL RQAEVIKGSW 500
    QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR QLTTLGIQLS 550
    PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP 600
    WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM 650
    KLRRLQKALC LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR 700
    LEQEHNNLVN VPLCVDMCLN WLLNVYDTGR TGRIRVLSFK TGIISLCKAH 750
    LEDKYRYLFK QVASSTGFCD QRRLGLLLHD SIQIPRQLGE VASFGGSNIE 800
    PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR VAAAETAKHQ 850
    AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC 900
    TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETNL 950
    QAEYDRLKQQ HEHKGLSPLP SPPEMMPTSP QSPRDAELIA EAKLLRQHKG 1000
    RLEARMQILE DHNKQLESQL HRLRQLLEQP QAEAKVNGTT VSSPSTSLQR 1050
    SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ DTSTGLEEVM EQLNNSFPSS 1100
    RGHNVGSLFH MADDLGRAME SLVSVMTDEE GAE 1133
    Length:1,133
    Mass (Da):130,794
    Last modified:March 8, 2011 - v1
    Checksum:iD1B797F9561ECD73
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC004468 Genomic DNA. No translation available.
    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.
    AC096506 Genomic DNA. No translation available.
    AL031542 Genomic DNA. No translation available.
    AL031643 Genomic DNA. No translation available.
    AL049643 Genomic DNA. No translation available.
    AL050305 Genomic DNA. No translation available.
    AL096699 Genomic DNA. No translation available.
    AL109609 Genomic DNA. No translation available.
    AL121880 Genomic DNA. No translation available.
    AL139278 Genomic DNA. No translation available.
    AL139401 Genomic DNA. No translation available.
    AL451144 Genomic DNA. No translation available.
    AL596023 Genomic DNA. No translation available.
    KF459040 Genomic DNA. No translation available.
    KF459044 Genomic DNA. No translation available.
    KF459045 Genomic DNA. No translation available.

    Genome annotation databases

    EnsembliENST00000343523; ENSP00000340057; ENSG00000198947.
    UCSCiuc004dcs.1. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC004468 Genomic DNA. No translation available.
    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.
    AC096506 Genomic DNA. No translation available.
    AL031542 Genomic DNA. No translation available.
    AL031643 Genomic DNA. No translation available.
    AL049643 Genomic DNA. No translation available.
    AL050305 Genomic DNA. No translation available.
    AL096699 Genomic DNA. No translation available.
    AL109609 Genomic DNA. No translation available.
    AL121880 Genomic DNA. No translation available.
    AL139278 Genomic DNA. No translation available.
    AL139401 Genomic DNA. No translation available.
    AL451144 Genomic DNA. No translation available.
    AL596023 Genomic DNA. No translation available.
    KF459040 Genomic DNA. No translation available.
    KF459044 Genomic DNA. No translation available.
    KF459045 Genomic DNA. No translation available.

    3D structure databases

    ProteinModelPortali E7EQR9.
    SMRi E7EQR9. Positions 587-846, 849-901.
    ModBasei Search...
    MobiDBi Search...

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000343523 ; ENSP00000340057 ; ENSG00000198947 .
    UCSCi uc004dcs.1. human.

    Organism-specific databases

    HGNCi HGNC:2928. DMD.
    GenAtlasi Search...

    Enzyme and pathway databases

    SignaLinki E7EQR9.

    Miscellaneous databases

    ChiTaRSi DMD. human.
    NextBioi 35499929.

    Gene expression databases

    ArrayExpressi E7EQR9.
    Bgeei E7EQR9.

    Family and domain databases

    Gene3Di 1.10.238.10. 2 hits.
    InterProi 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.
    IPR000433. Znf_ZZ.
    [Graphical view ]
    Pfami PF09068. EF-hand_2. 1 hit.
    PF09069. EF-hand_3. 1 hit.
    PF00435. Spectrin. 4 hits.
    PF00397. WW. 1 hit.
    PF00569. ZZ. 1 hit.
    [Graphical view ]
    SMARTi SM00150. SPEC. 5 hits.
    SM00456. WW. 1 hit.
    SM00291. ZnF_ZZ. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51045. SSF51045. 1 hit.
    PROSITEi PS01159. WW_DOMAIN_1. 1 hit.
    PS50020. WW_DOMAIN_2. 1 hit.
    PS01357. ZF_ZZ_1. 1 hit.
    PS50135. ZF_ZZ_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    3. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    4. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. Ensembl
      Submitted (JUL-2011) to UniProtKB
      Cited for: IDENTIFICATION.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiE7EQR9_HUMAN
    AccessioniPrimary (citable) accession number: E7EQR9
    Entry historyi
    Integrated into UniProtKB/TrEMBL: March 8, 2011
    Last sequence update: March 8, 2011
    Last modified: October 1, 2014
    This is version 24 of the entry and version 1 of the sequence. [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, Reference proteomeImported

    External Data

    Dasty 3