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FLASH GENE
Symbol IBA57 contributors: mct - updated : 30-04-2014
HGNC name IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
HGNC id 27302
Corresponding disease
MMDS3 multiple mitochondrial dysfunctions syndrome 3
SPG74 spastic paraplegia 74, autosomal recessive
Location 1q42.13      Physical location : -
Synonym name
  • hypothetical protein LOC200205
  • chromosome 1 open reading frame 69
  • putative transferase CAF17, mitochondrial
  • iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa
  • Synonym symbol(s) FLJ12734, FLJ13849, RP11-520H14.5, C1orf69
    EC.number 2.1.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 16.44 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 7921 38 356 - 2006 16710414
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • gcvT family
  • CAF17 subfamily
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    text
  • located in the mitochondrial matrix
  • basic FUNCTION
  • specific role in the maturation of mitochondrial aconitase-type and radical SAM Fe/S proteins (biotin and lipoic acid synthases)
  • are thought to assemble Fe-S clusters for mitochondrial aconitase and for lipoate synthase, the enzyme producing lipoate for pyruvate dehydrogenase complex (PDC)
  • ISCA1, ISCA2, and IBA57 are specifically involved in the maturation of mitochondrial [4Fe-4S] proteins functioning late in the mitochondrial iron-sulfur cluster assembly pathway
  • involved in the biosynthesis of mitochondrial [4Fe-4S] proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMDS3 , SPG74
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS