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Description for Protein NEB

nebulin
11 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SH3: Src homology 3 domains
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    -
    Approved Symbol:
    NEB
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 33
    Human (de-) phosphorylation sites: 33; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Nemaline myopathy 2(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01196 Entrez Gene ID: 4703 OMIM ID: 161650 Swissprot Accession: P20929; Q14214; Q05C45;