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FLASH GENE
Symbol BOLA3 contributors: mct/npt - updated : 20-04-2013
HGNC name bolA-like 3 (E. coli)
HGNC id 24415
Corresponding disease
MMDS2 multiple mitochondrial dysfunctions syndrome 2
Location 2p13.1      Physical location : 74.362.527 - 74.375.039
Synonym symbol(s) MMDS2
DNA
TYPE functioning gene
STRUCTURE 12.51 kb     4 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 554 - 107 localized into mitochondria 2011 21944046
long isoform
3 - 465 - 101 localized in the cytoplasm 2011 21944046
  • short isoform
  • lacks exon 3, which is present in isoform 1, resulting in different stop codons in the two transcripts
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   highly
    Digestivemouthtongue  moderately
    Reproductivemale systemprostate  moderately
    Urinarykidney   predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a mitochondrial targeting sequence
  • HOMOLOGY
    Homologene
    FAMILY
  • BolA-like family of proteins
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • involved in cell proliferation or cell-cycle regulation
  • play essential roles in the production of [Fe-S] centers for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the respiratory chain complexes
  • NFU1- (and BOLA3-) dependent assembled clusters are directed to complex I and lipoate synthesis
  • with GLRX, help regulate iron metabolism
  • CELLULAR PROCESS cell cycle
    cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BOLA3 is potentially interacting with glutaredoxin 5, which along with several chaperones is involved in inserting [2Fe-2S] and [4Fe-4S] clusters into apoproteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMDS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS