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FLASH GENE
Symbol BCS1L contributors: mct - updated : 29-11-2010
HGNC name BCS1-like (S. cerevisiae)
HGNC id 1020
Corresponding disease
DFNBPT neurosensory deafness, prelingual
GRACILE GRACILE syndrome
TELF tubulopathy, encephalopathy and liver failure
Location 2q35      Physical location : 219.524.378 - 219.528.165
Synonym name
  • BCS1-like (yeast)
  • complex 3 of respiratory chain
  • mitochondrial complex III assembly
  • mitochondrial chaperone BCS1
  • Synonym symbol(s) BCS1, BCS, FLNMS, BJS, PTD
    DNA
    TYPE functioning gene
    STRUCTURE 3.79 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1454 - 419 - 2002 12215968
    differs in the 5' UTR encoding the same protein
    9 - 1663 47 419 - 2002 12215968
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Nervousbrain   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one single transmembrane domain
  • two nucleotide binding sites of its yeast homolog
  • secondary structure eleven polypeptide subunits
    HOMOLOGY
    interspecies homolog to yeast BCS1
    homolog to Drosophila cg4908
    Homologene
    FAMILY
  • AAA ((ATPases associated with a variety of cellular activities) family
  • CATEGORY chaperone/stress , enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • chaperone responsible for assembly of respiratory chain complex III (CIII)
  • assembly factor that facilitates the insertion of the catalytic Rieske Iron-Sulfur subunit into respiratory chain complex III
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • respiratory chain complex 3
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • stimulates the assembly of the LETM1 complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TELF , GRACILE , DFNBPT
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS