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FLASH GENE
Symbol COX10 contributors: shn - updated : 15-10-2010
HGNC name COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)
HGNC id 2260
Corresponding disease
COX10D COX10 deficiency
Location 17p12      Physical location : 13.972.718 - 14.111.992
Synonym name
  • cytochrome c oxidase assembly protein
  • cytochrome c oxidase subunit X
  • heme A: farnesyltransferase
  • heme O synthase
  • protoheme IX farnesyltransferase, mitochondrialfarnesyltransferase)
  • EC.number 1.9.3.1, 2.5.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 139.28 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    text structure lacks conventional TATA and CAAT boxes, but has several potential transcription factor-binding sites
    MAPPING cloned Y linked N status confirmed
    Map pter - D17S799 - D17S936 - COX10 - D17S921 - D17S955 - cen
    Physical map
    FLJ34690 17p12 hypothetical protein FLJ34690 LOC390764 17 similar to hypothetical protein MYCD 17p13.3 similar to hypothetical protein KIAA0672 17p11.2 similar to hypothetical protein ELAC2 17p11.2 elaC homolog 2 (E. coli) HS3ST3A1 17p12-p11.2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 LOC388337 17 similar to CDRT15 protein COX10 17p12-p11.2 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) LOC146822 17p12 similar to CDRT15 protein LOC388338 17 LOC388338 HS3ST3B1 17p12-p11.2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 LOC388339 17 similar to ribosomal protein LOC390765 17 similar to 60S ribosomal protein L23a LOC388340 17 LOC388340 PMP22 17p12-p11.2 peripheral myelin protein 22 TEKT3 17p12 tektin 3 FLJ36674 17p11.2 hypothetical protein FLJ36674 LOC201158 17p11.2 similar to CGI-148 protein C17orf1A 17p11 chromosome 17 open reading frame 1A CDRT1 17p12 CMT1A duplicated region transcript 1 TRIM16 17p11.2 tripartite motif-containing 16 ZNF286 17p11.2 zinc finger protein 286 LOC246719 17p11.2 ubiquitin carrier protein E2-EPF pseudogene MGC51025 7p11.2 hypothetical protein MGC51025
    RNA
    TRANSCRIPTS type messenger
    text transcribed from a sequence tightly linked and distal to CMT1AREPT and from sequences overlapping CMT1AREPT and CMT1AREPC
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3016 - 443 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveintestinesmall intestine  lowly
     intestinelarge intestinecolon moderately
     liver   lowly
    Endocrinepancreas   lowly
    Lymphoid/Immunespleen   lowly
     thymus   lowly
    Nervousbrain   lowly
    Reproductivefemale systemplacenta  lowly
     female systemovary  lowly
     male systemprostate  lowly
     male systemtestis  highly
    Respiratorylung   lowly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a long relatively hydrophilic N terminal
  • seve to nine potential transmembrane segments (TM9)
  • mono polymer homomer , complex
    HOMOLOGY
    interspecies ortholog to COX10, S.cerevisiae
    ortholog to COX10, Pan troglodytes
    ortholog to Cox10, Mus musculus
    ortholog to cox10, Danio rerio
    Homologene
    FAMILY
  • ub1a prenyltransferase family
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text localized in mitochondrial inner membrane
    basic FUNCTION
  • terminal component of the mitochondrial respiratory chain that catalyzes the electron transfer from reduced cytochrome c to oxygen
  • catalyzes the conversion of protoheme (heme B) to heme O via the farnesylation of a vinyl group at position C2 in the first step of the mitochondrial heme A biosynthetic
  • involved in heme A biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport , electron transport
    text cellular respiration
    PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ISCU (iron-sulfur cluster scaffold homolog) and COX10 (cytochrome c oxidase assembly protein), two important factors of the mitochondria electron transport chain and the tricarboxylic acid cycle have been identified as potential targets of MIR210
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COX10D
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in HNPP (hereditary neuropathy with liability to pressure palsies)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • COX10-null mice have only 20-40% of wild-type mitochondrial function and the transgenic overexpressionof PGC-1a in these mice restores full mitochondrial function
  • COX10-/- mice treated with bezafibrate have 85% of WT OxPhos activity and their muscle function is improved compared with untreated littermates