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Description for Protein DCTN1

dynactin 1
41 total interacting proteins; 29 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 6/0)
(microparticles: 1; platelet: 13)
Summary:
This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04648
    KEGG - Pathway(s):
    hsa04962; hsa05016
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Dynactin 1 isoform 1; 150 kDa dynein associated polypeptide; DP150; DAP150; p150 glued; p135; Dynactin 1 isoform 2
    Approved Symbol:
    DCTN1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 16
    Human (de-) phosphorylation sites: 16; 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:

  • Amyotrophic lateral sclerosis, susceptibility to(Pd);
  • Neuronopathy, distal hereditary motor, type VIIb(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07206 Entrez Gene ID: 1639 OMIM ID: 601143 Swissprot Accession: Q14203; Q6MZZ3; Q6IQ37;