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Q9UEH4

- Q9UEH4_HUMAN

UniProt

Q9UEH4 - Q9UEH4_HUMAN

Protein
Submitted name:

Dystrophin

Gene

DMD

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 4 out of 5- Protein predictedi
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    • History
      Entry version 56 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    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

    Names & Taxonomyi

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

    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

    PTM / Processingi

    Proteomic databases

    PRIDEiQ9UEH4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UEH4.
    BgeeiQ9UEH4.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UEH4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    HOGENOMiHOG000231173.

    Family and domain databases

    InterProiIPR018159. Spectrin/alpha-actinin.
    IPR002017. Spectrin_repeat.
    [Graphical view]
    PfamiPF00435. Spectrin. 3 hits.
    [Graphical view]
    SMARTiSM00150. SPEC. 3 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Fragment.

    Q9UEH4-1 [UniParc]FASTAAdd to Basket

    « Hide

    ALQSSLQEQQ SGLYYLSTTV KEMSKKAPSE ISRKYQSEFE EIEGRWKKLS    50
    SQLVEHCQKL EEQMNKLRKI QNHIQTLKKW MAEVDVFLKE EWPALGDSEI 100
    LKKQLKQCRL LVSDIQTIQP SLNSVNEGGQ KIKNEAEPEF ASRLETELKE 150
    LNTQWDHMCQ QVYARKEALK GGLEKTVSLQ KDLSEMHEWM TQAEEEYLER 200
    DFEYKTPDEL QKAVEEMKRA KEEAQQKEAK VKLLTESVNS VIAQAPPVAQ 250
    EALKKELETL TTNYQWLCTR LNGKCKTLEE VWACWHELLS YLEKANKWLN 300
    EVEFKLKTTE NIPGGAEEIS EVLDSLENLM RHSEDNPNQI RILAQTLTDG 350
    GVMDELINEE LETFNSRWRE LHEEAVRRQK LLEQSIQSAQ ETEKSLHLIQ 400
    ESLTFIDKQL AAYIADKVDA AQMPQEAQ 428
    Length:428
    Mass (Da):49,744
    Last modified:May 1, 2000 - v1
    Checksum:i70306D67634D46EB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Non-terminal residuei428 – 4281Imported

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L05642
    , L05636, L05637, L05638, L05639, L05640, L05641, L05650 Genomic DNA. Translation: AAA74506.1.
    UniGeneiHs.495912.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L05642
    , L05636 , L05637 , L05638 , L05639 , L05640 , L05641 , L05650 Genomic DNA. Translation: AAA74506.1 .
    UniGenei Hs.495912.

    3D structure databases

    ProteinModelPortali Q9UEH4.
    ModBasei Search...
    MobiDBi Search...

    Proteomic databases

    PRIDEi Q9UEH4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Phylogenomic databases

    HOGENOMi HOG000231173.

    Miscellaneous databases

    ChiTaRSi DMD. human.

    Gene expression databases

    ArrayExpressi Q9UEH4.
    Bgeei Q9UEH4.

    Family and domain databases

    InterProi IPR018159. Spectrin/alpha-actinin.
    IPR002017. Spectrin_repeat.
    [Graphical view ]
    Pfami PF00435. Spectrin. 3 hits.
    [Graphical view ]
    SMARTi SM00150. SPEC. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE.

    Entry informationi

    Entry nameiQ9UEH4_HUMAN
    AccessioniPrimary (citable) accession number: Q9UEH4
    Entry historyi
    Integrated into UniProtKB/TrEMBL: May 1, 2000
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 56 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.