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Description for Protein COLQ

collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
3 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • COLL: Collagen triple helix repeat (20 copies)
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    AChE Q subunit; Acetylcholinesterase-associated collagen; EAD; Collagenic tail of endplate acetylcholinesterase; Acetylcholinesterase collagen-like tail subunit isoform VIII precursor; Acetylcholinesterase collagen-like tail subunit isoform VII precursor; Acetylcholinesterase collagen-like tail subunit isoform VI precursor; Acetylcholinesterase collagen-like tail subunit; Single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase; Acetylcholinesterase collagen-like tail subunit isoform I precursor; Acetylcholinesterase collagen-like tail subunit isoform V precursor; Acetylcholinesterase collagen-like tail subunit isoform II; Acetylcholinesterase collagen-like tail subunit isoform III precursor; Acetylcholinesterase collagen-like tail subunit isoform IV precursor
    Approved Symbol:
    COLQ
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

  • Endplate acetylcholinesterase deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 8 : 0
  • Isoform 7 : 0
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 1
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04328 Entrez Gene ID: 8292 OMIM ID: 603033 Swissprot Accession: Q9Y215;