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FLASH GENE
Symbol SLC25A15 contributors: mct/npt - updated : 13-11-2009
HGNC name solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
HGNC id 10985
Corresponding disease
HHH hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Location 13q14.11      Physical location : 41.363.546 - 41.386.595
Synonym name
  • ornithine transporter 1
  • mitochondrial ornithine transporter 1
  • Synonym symbol(s) ORNT1, D13S327, ORC1
    DNA
    TYPE functioning gene
    STRUCTURE 20.65 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 4038 - 301 - Tessa (2009)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Endocrinethyroid    
    Reproductivefemale systemuteruscervix highly
    Visualeyeuveachoroid  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three SOLCAR repeats
  • HOMOLOGY
    interspecies homolog to murine Slc25a15
    intraspecies homolog to SLC25A2
    Homologene
    FAMILY
  • mitochondrial carrier family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • involved in the ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix
  • mitochondrial carrier protein, which catalyzes the
  • electroneutral exchange of ornithine for citrulline plus an H1 ion (Tessa 2009)
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    PATHWAY
    metabolism aminoacid
    signaling
    urea cycle
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HHH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS