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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
    Physical map
    ARPC2 13q12-q13 actin related protein 2/3 complex, subunit 2, 34kDa GPBAR1 2q36.1 G protein-coupled bile acid receptor 1 AAMP 2q36.1 angio-associated, migratory cell protein MR-1 2q35 myofibrillogenesis regulator 1 PP1201 2p24.3-p24.1 PP1201 protein MGC50811 2q35 hypothetical gene supported by BC052750 SLC11A1 2q35 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 CTDSP1 2q35 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 VIL1 2q35 villin 1 USP37 2q35 ubiquitin specific protease 37 RQCD1 2q36.1 RCD1 required for cell differentiation1 homolog (S. pombe) PLCD4 2q35 phospholipase C, delta 4 ZNF142 2q34-q35 zinc finger protein 142 (clone pHZ-49) BCS1L 2q33 BCS1-like (yeast) RNF25 2q36.1 ring finger protein 25 STK36 2q35 serine/threonine kinase 36 (fused homolog, Drosophila) KIAA0173 2p24.3-p24.1 serine/threonine kinase 36 (fused homolog, Drosophila) CYP27A1 2q35-q36 cytochrome P450, family 27, subfamily A, polypeptide 1 PRKAG3 2q35 protein kinase, AMP-activated, gamma 3 non-catalytic subunit LOC391484 2 similar to 60S ribosomal protein L23a WNT6 2q35 wingless-type MMTV integration site family, member 6 WNT10A 2q35 wingless-type MMTV integration site family, member 10A LOC391485 2 similar to cytokeratin 8 CDK5R2 2q35 cyclin-dependent kinase 5, regulatory subunit 2 (p39) HSRNAFEV 2q33 cyclin-dependent kinase 5, regulatory subunit 2 (p39) CRYBA2 2q34-q36 crystallin, beta A2 DKFZp434O0527 2q36.1 hypothetical protein DKFZp434O0527 MGC35338 2q36.1 hypothetical protein MGC35338 IHH 2q35-q36 Indian hedgehog homolog (Drosophila) FLJ12610 2q36.1 hypothetical protein FLJ12610
    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