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Q14174

- Q14174_HUMAN

UniProt

Q14174 - Q14174_HUMAN

Protein
Submitted name:

Duchenne muscular dystrophy protein

Gene

DMD

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 1 out of 5- Experimental evidence at transcript leveli
  1. Functioni

    Keywords - Ligandi

    Actin-bindingSAAS annotation

    Names & Taxonomyi

    Protein namesi
    Submitted name:
    Duchenne muscular dystrophy 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.

    Family & Domainsi

    Keywords - Domaini

    RepeatSAAS annotation

    Family and domain databases

    Gene3Di1.10.418.10. 1 hit.
    InterProiIPR001589. Actinin_actin-bd_CS.
    IPR001715. CH-domain.
    [Graphical view]
    PfamiPF00307. CH. 1 hit.
    [Graphical view]
    SMARTiSM00033. CH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47576. SSF47576. 1 hit.
    PROSITEiPS00020. ACTININ_2. 1 hit.
    PS50021. CH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Fragment.

    Q14174-1 [UniParc]FASTAAdd to Basket

    « Hide

    ENLFSDLQDG RRLLDLLEGL TGQKLPKEKG STRVHALNNV NKALRVLQNN    50
    NVDLVNIGST DIVDGNHKLT LGLIWNIILH WQVLGDRWAN ICRWTEDRWV 100
    LLQDILLKWQ RLTEEQCLFS AWLSE 125
    Length:125
    Mass (Da):14,525
    Last modified:November 1, 1996 - v1
    Checksum:i82C8DDA61827C8AE
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Non-terminal residuei1 – 11Imported
    Non-terminal residuei125 – 1251Imported

    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.
    M63075 mRNA. Translation: AAA52315.1.
    PIRiI65646.
    UniGeneiHs.495912.

    Genome annotation databases

    EnsembliENST00000447523; ENSP00000395904; 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.
    M63075 mRNA. Translation: AAA52315.1 .
    PIRi I65646.
    UniGenei Hs.495912.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000447523 ; ENSP00000395904 ; ENSG00000198947 .

    Organism-specific databases

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

    Miscellaneous databases

    ChiTaRSi DMD. human.

    Family and domain databases

    Gene3Di 1.10.418.10. 1 hit.
    InterProi IPR001589. Actinin_actin-bd_CS.
    IPR001715. CH-domain.
    [Graphical view ]
    Pfami PF00307. CH. 1 hit.
    [Graphical view ]
    SMARTi SM00033. CH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47576. SSF47576. 1 hit.
    PROSITEi PS00020. ACTININ_2. 1 hit.
    PS50021. CH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies."
      Chelly J., Gilgenkrantz H., Lambert M., Hamard G., Chafey P., Recan D., Katz P., de la Chapelle A., Koenig M., Ginjaar I.B., Fardeau M., Tome F., Kahn A., Kaplan J.-C.
      Cell 63:1239-1248(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE.
      Tissue: MuscleImported.
    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 (JAN-2012) to UniProtKB
      Cited for: IDENTIFICATION.

    Entry informationi

    Entry nameiQ14174_HUMAN
    AccessioniPrimary (citable) accession number: Q14174
    Entry historyi
    Integrated into UniProtKB/TrEMBL: November 1, 1996
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 96 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