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FLASH GENE
Symbol SLC25A19 contributors: mct - updated : 17-12-2011
HGNC name solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19
HGNC id 14409
Corresponding disease
MCPHA microcephaly Amish type
SNBP striatal necrosis, bilateral, and progressive polyneuropathy
Location 17q25.3      Physical location : 73.269.061 - 73.285.530
Synonym name
  • mitochondrial uncoupling protein 1
  • nuclear mitochondrial deoxynucleotide carrier
  • Synonym symbol(s) DNC, MUP1, DNCHA
    DNA
    TYPE functioning gene
    STRUCTURE 16.47 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text three transcripts differing only by their 5'utr (Iacobazzi)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1675 - 320 - 2001 11474176
    part of exon 1 and 2 (3 missing)
    8 - 1659 - 320 - 2001 11474176
    part of exon 1 (2 and 3 missing)
    7 - 1585 - 320 - 2001 11474176
    part of exon 1 and 3 (2 missing)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Reproductivemale systemtestis  highly
     male systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three tandemly repeated mitochondrial membrane carrier domains (SOLCAR repeats)
  • six transmembrane spanning segments
  • HOMOLOGY
    Homologene
    FAMILY solute carrier family 25 mitochondrial
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • deoxynucleotides and dideoxynucleotides carrier maybe involved in the cytotoxicity of antiviral and anticancer nucleoside analogy
  • mitochondrial deoxyribonucleotide transporter, and mitochondrial thiamine pyrophosphate transport important for CNS development
  • required for the accumulation of coenzyme A in the mitochondrial matrix
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text energy transfer
    PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCPHA , SNBP
    Susceptibility
    Variant & Polymorphism
    Candidate gene recognized by igG from patients with active Grave disease
    Marker
    Therapy target
    ANIMAL & CELL MODELS