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Q4G0X0

- Q4G0X0_HUMAN

UniProt

Q4G0X0 - Q4G0X0_HUMAN

Protein
Submitted name:

DMD protein

Gene

DMD

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 1 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 49 (01 Oct 2014)
      Sequence version 1 (05 Feb 2008)
      Previous versions | rss
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    Functioni

    Keywords - Ligandi

    Actin-bindingSAAS annotation

    Names & Taxonomyi

    Protein namesi
    Submitted name:
    DMD proteinImported
    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.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27378.

    Family & Domainsi

    Keywords - Domaini

    RepeatSAAS annotation

    Phylogenomic databases

    HOGENOMiHOG000134526.
    HOVERGENiHBG097030.
    KOiK10366.

    Family and domain databases

    Gene3Di1.10.418.10. 2 hits.
    InterProiIPR001589. Actinin_actin-bd_CS.
    IPR001715. CH-domain.
    IPR018159. Spectrin/alpha-actinin.
    IPR002017. Spectrin_repeat.
    [Graphical view]
    PfamiPF00307. CH. 2 hits.
    PF00435. Spectrin. 2 hits.
    [Graphical view]
    SMARTiSM00033. CH. 2 hits.
    SM00150. SPEC. 3 hits.
    [Graphical view]
    SUPFAMiSSF47576. SSF47576. 1 hit.
    PROSITEiPS00019. ACTININ_1. 1 hit.
    PS00020. ACTININ_2. 1 hit.
    PS50021. CH. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q4G0X0-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEDEREDVQK KTFTKWVNAQ FSKFGKQHIE NLFSDLQDGR RLLDLLEGLT    50
    GQKLPKEKGS TRVHALNNVN KALRVLQNNN VDLVNIGSTD IVDGNHKLTL 100
    GLIWNIILHW QVKNVMKNIM AGLQQTNSEK ILLSWVRQST RNYPQVNVIN 150
    FTTSWSDGLA LNALIHSHRP DLFDWNSVVC QQSATQRLEH AFNIARYQLG 200
    IEKLLDPEDV DTTYPDKKSI LMYITSLFQV LPQQVSIEAI QEVEMLPRPP 250
    KVTKEEHFQL HHQMHYSQQI TVSLAQGYER TSSPKPRFKS YAYTQAAYVT 300
    TSDPTRSPFP SQHLEAPEDK SFGSSLMESE VNLDRYQTAL EEVLSWLLSA 350
    EDTLQAQGEI SNDVEVVKDQ FHTHEGYMMD LTAHQGRVGN ILQLGSKLIG 400
    TGKLSEDEET EVQEQMNLLN SRWECLRVAS MEKQSNLHRV LMDLQNQKLK 450
    ELNDWLTKTE ERTRKMEEEP LGPDLEDLKR QVQQHKVLQE DLEQEQVRVN 500
    SLTHMVVVVD ESSGDHATAA LEEQLKVLGD RWANICRWTE DRWVLLQDIL 550
    LKWQRLTEEQ CLFSAWLSEK EDAVNKIHTT GFKDQNEMLS SLQKLAVLKA 600
    DLEKKKQSMG KLYSLKQDLL STLKNKSVTQ KTEAWLDNFA RCWDNLVQKL 650
    EKSTAQISQA VTTTQPSLTQ TTVMETVTTV TTREQILVKH AQEELPPPPP 700
    QKKRQITVDS EIRKRLDVDI TELHSWITRS EAVLQSPEFA IFRKEGNFSD 750
    LKEKVNVGYA LIFISVLILC CL 772
    Length:772
    Mass (Da):88,800
    Last modified:February 5, 2008 - v1
    Checksum:i33AEE50114531EBA
    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.
    BC036103 mRNA. Translation: AAH36103.1.
    RefSeqiNP_000100.2. NM_000109.3.
    UniGeneiHs.495912.

    Genome annotation databases

    EnsembliENST00000288447; ENSP00000288447; ENSG00000198947.
    GeneIDi1756.
    KEGGihsa:1756.
    UCSCiuc004ddf.3. 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.
    BC036103 mRNA. Translation: AAH36103.1 .
    RefSeqi NP_000100.2. NM_000109.3.
    UniGenei Hs.495912.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protocols and materials databases

    DNASUi 1756.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000288447 ; ENSP00000288447 ; ENSG00000198947 .
    GeneIDi 1756.
    KEGGi hsa:1756.
    UCSCi uc004ddf.3. human.

    Organism-specific databases

    CTDi 1756.
    HGNCi HGNC:2928. DMD.
    PharmGKBi PA27378.
    GenAtlasi Search...

    Phylogenomic databases

    HOGENOMi HOG000134526.
    HOVERGENi HBG097030.
    KOi K10366.

    Miscellaneous databases

    ChiTaRSi DMD. human.
    GenomeRNAii 1756.
    NextBioi 7115.

    Family and domain databases

    Gene3Di 1.10.418.10. 2 hits.
    InterProi IPR001589. Actinin_actin-bd_CS.
    IPR001715. CH-domain.
    IPR018159. Spectrin/alpha-actinin.
    IPR002017. Spectrin_repeat.
    [Graphical view ]
    Pfami PF00307. CH. 2 hits.
    PF00435. Spectrin. 2 hits.
    [Graphical view ]
    SMARTi SM00033. CH. 2 hits.
    SM00150. SPEC. 3 hits.
    [Graphical view ]
    SUPFAMi SSF47576. SSF47576. 1 hit.
    PROSITEi PS00019. ACTININ_1. 1 hit.
    PS00020. ACTININ_2. 1 hit.
    PS50021. CH. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Gerhard D.S., Wagner L., Feingold E.A., Shenmen C.M., Grouse L.H., Schuler G., Klein S.L., Old S., Rasooly R., Good P., Guyer M., Peck A.M., Derge J.G., Lipman D., Collins F.S., Jang W., Sherry S., Feolo M.
      , Misquitta L., Lee E., Rotmistrovsky K., Greenhut S.F., Schaefer C.F., Buetow K., Bonner T.I., Haussler D., Kent J., Kiekhaus M., Furey T., Brent M., Prange C., Schreiber K., Shapiro N., Bhat N.K., Hopkins R.F., Hsie F., Driscoll T., Soares M.B., Casavant T.L., Scheetz T.E., Brown-stein M.J., Usdin T.B., Toshiyuki S., Carninci P., Piao Y., Dudekula D.B., Ko M.S., Kawakami K., Suzuki Y., Sugano S., Gruber C.E., Smith M.R., Simmons B., Moore T., Waterman R., Johnson S.L., Ruan Y., Wei C.L., Mathavan S., Gunaratne P.H., Wu J., Garcia A.M., Hulyk S.W., Fuh E., Yuan Y., Sneed A., Kowis C., Hodgson A., Muzny D.M., McPherson J., Gibbs R.A., Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., Whiting M., Madari A., Young A.C., Wetherby K.D., Granite S.J., Kwong P.N., Brinkley C.P., Pearson R.L., Bouffard G.G., Blakesly R.W., Green E.D., Dickson M.C., Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., Butterfield Y.S., Griffith M., Griffith O.L., Krzywinski M.I., Liao N., Morin R., Morrin R., Palmquist D., Petrescu A.S., Skalska U., Smailus D.E., Stott J.M., Schnerch A., Schein J.E., Jones S.J., Holt R.A., Baross A., Marra M.A., Clifton S., Makowski K.A., Bosak S., Malek J.
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: BrainImported.
    2. "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].
    3. Ensembl
      Submitted (JUL-2011) to UniProtKB
      Cited for: IDENTIFICATION.

    Entry informationi

    Entry nameiQ4G0X0_HUMAN
    AccessioniPrimary (citable) accession number: Q4G0X0
    Entry historyi
    Integrated into UniProtKB/TrEMBL: February 5, 2008
    Last sequence update: February 5, 2008
    Last modified: October 1, 2014
    This is version 49 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

    Keywords - Technical termi

    Complete proteome, Reference proteomeImported

    External Data

    Dasty 3