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Description for Protein UTRN

utrophin
17 total interacting proteins; 11 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/2)
(platelet: 4; undefined: 1)
Summary:
This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SPECTRIN: Spectrin repeat
  • CC: Coiled Coil
  • CH: Calponin homology domain
  • WW: Domain with 2 conserved Trp (W) residues
  • ZnF_ZZ: Zinc-binding domain, present in Dystrophin, CREB-binding protein.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Dystrophin like protein; DMDL; Dystrophin related protein 1; DRP1; DRP
    Approved Symbol:
    UTRN
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 19
    Human (de-) phosphorylation sites: 19; 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:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00547 Entrez Gene ID: 7402 OMIM ID: 128240 Swissprot Accession: P46939; Q6LBS5;