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E7EQS5

- E7EQS5_HUMAN

UniProt

E7EQS5 - E7EQS5_HUMAN

Protein
Submitted name:

Dystrophin

Gene

DMD

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 27 (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

    GO - Biological processi

    1. cardiac muscle cell action potential Source: Ensembl
    2. cellular protein complex assembly Source: Ensembl
    3. cellular protein localization Source: Ensembl
    4. establishment of blood-nerve barrier Source: Ensembl
    5. establishment of glial blood-brain barrier Source: Ensembl
    6. muscle cell cellular homeostasis Source: Ensembl
    7. muscle fiber development Source: Ensembl
    8. myotube cell development Source: Ensembl
    9. negative regulation of peptidyl-cysteine S-nitrosylation Source: Ensembl
    10. negative regulation of peptidyl-serine phosphorylation Source: Ensembl
    11. neurotransmitter receptor metabolic process Source: Ensembl
    12. nucleus localization Source: Ensembl
    13. olfactory nerve structural organization Source: Ensembl
    14. positive regulation of cell-matrix adhesion Source: Ensembl
    15. positive regulation of sodium ion transmembrane transporter activity Source: Ensembl
    16. regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: Ensembl
    17. regulation of heart rate Source: Ensembl
    18. regulation of ryanodine-sensitive calcium-release channel activity Source: Ensembl
    19. regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion Source: Ensembl
    20. regulation of transcription, DNA-templated Source: Ensembl
    21. regulation of voltage-gated calcium channel activity Source: Ensembl
    22. skeletal muscle tissue development Source: Ensembl

    Enzyme and pathway databases

    SignaLinkiE7EQS5.

    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.

    Subcellular locationi

    GO - Cellular componenti

    1. cell-substrate junction Source: Ensembl
    2. dystrophin-associated glycoprotein complex Source: Ensembl
    3. membrane raft Source: Ensembl
    4. neuron projection terminus Source: Ensembl
    5. sarcolemma Source: Ensembl
    6. synapse Source: Ensembl
    7. Z disc Source: Ensembl

    Expressioni

    Gene expression databases

    ArrayExpressiE7EQS5.
    BgeeiE7EQS5.

    Structurei

    3D structure databases

    ProteinModelPortaliE7EQS5.
    SMRiE7EQS5. 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.

    E7EQS5-1 [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 LEGDNMETPV 950
    TLINFWPVDS APASSPQLSH DDTHSRIEHY ASRLAEMENS NGSYLNDSIS 1000
    PNESIDDEHL LIQHYCQSLN QDSPLSQPRS PAQILISLES EERGELERIL 1050
    ADLEEENRNL QAEYDRLKQQ HEHKGLSPLP SPPEMMPTSP QSPRDAELIA 1100
    EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP QAEAKVNGTT 1150
    VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ DTSTGLEEVM 1200
    EQLNNSFPSS RGRNTPGKPM REDTM 1225
    Length:1,225
    Mass (Da):141,399
    Last modified:March 8, 2011 - v1
    Checksum:i68BBB0DD99787268
    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

    EnsembliENST00000378707; ENSP00000367979; ENSG00000198947.

    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 E7EQS5.
    SMRi E7EQS5. Positions 587-846, 849-901.
    ModBasei Search...
    MobiDBi Search...

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378707 ; ENSP00000367979 ; ENSG00000198947 .

    Organism-specific databases

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

    Enzyme and pathway databases

    SignaLinki E7EQS5.

    Miscellaneous databases

    ChiTaRSi DMD. human.
    NextBioi 35499931.

    Gene expression databases

    ArrayExpressi E7EQS5.
    Bgeei E7EQS5.

    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. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    4. "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].
    5. "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].
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. Ensembl
      Submitted (JUL-2011) to UniProtKB
      Cited for: IDENTIFICATION.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiE7EQS5_HUMAN
    AccessioniPrimary (citable) accession number: E7EQS5
    Entry historyi
    Integrated into UniProtKB/TrEMBL: March 8, 2011
    Last sequence update: March 8, 2011
    Last modified: October 1, 2014
    This is version 27 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