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Description for Protein BCS1L

BCS1-like (S. cerevisiae)
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
Summary:
This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Two alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • AAA: ATPases associated with a variety of cellular activities
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08900
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    BCS1-like; BCS1; H-BCS1; GRACILE; Hs.6719; h-BCS; BCS1-like protein; Mitochondrial chaperone BCS1; Mitochondrial complex III assembly; FLNMS
    Approved Symbol:
    BCS1L
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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:

  • Bjornstad syndrome(Pd);
  • Bjornstad syndrome with mild mitochondrial complex III deficiency(Pd);
  • Gracile syndrome(Pd);
  • Leigh syndrome due to mitochondrial complex III deficiency(Pd);
  • Mitochondrial complex III deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04708 Entrez Gene ID: 617 OMIM ID: 603647 Swissprot Accession: Q9Y276;