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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
    Physical map
    FLJ31882 17q25.2 hypothetical protein FLJ31882 LOC390813 17 similar to NKIR protein IREM2 17q25.2 immune receptor expressed on myeloid cells 2 RAB37 17q25.2 RAB37, member of RAS oncogene family NKIR 17q25.2 NK inhibitory receptor precursor SLC9A3R1 17q24.2-q24.3 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1 DKFZP564C103 17q25.2 DKFZP564C103 protein FLJ20255 17q25.2 hypothetical protein FLJ20255 GRIN2C 17q25 glutamate receptor, ionotropic, N-methyl D-aspartate 2C FDXR 17q24-q25 ferredoxin reductase LOC283985 17q25.2 similar to delta 5 fatty acid desaturase USH1G 17q25.2 Usher syndrome 1G (autosomal recessive) OTOP2 17q25.2 otopetrin 2 OTOP3 17q25.2 otopetrin 3 C17orf28 17q25.1 chromosome 17 open reading frame 28 HUMPPA 17q25.2 paraneoplastic antigen ICT1 17q25.2 immature colon carcinoma transcript 1 ATP5H 12q13 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d LOC390814 17 similar to Hypothetical protein KIAA0176 SLC16A5 17q25.3 solute carrier family 16 (monocarboxylic acid transporters), member 5 FLJ22160 17q25.2 hypothetical protein FLJ22160 NT5C 17q25.3 5', 3'-nucleotidase, cytosolic HN1 17q25.2 hematological and neurological expressed 1 SMT3H2 17q25.3 SMT3 suppressor of mif two 3 homolog 2 (yeast) PCNT1 17q25 pericentrin 1 GGA3 17q25.3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 MRPS7 17q23-25 mitochondrial ribosomal protein S7 AD023 17q25.2 AD023 protein SLC25A19 17q25.3 solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 GRB2 17q24.3-q25 growth factor receptor-bound protein 2 KIAA0195 17q25.3 growth factor receptor-bound protein 2 CASKIN2 17q25.3 CASK interacting protein 2 LOC283989 17q25.3 hypothetical protein LOC283989 LLGL2 17q24-q25 lethal giant larvae homolog 2 (Drosophila) MYO15B 17q25 myosin XVB, pseudogene LOC390815 17 similar to Myosin XV (Unconventional myosin-15) RECQL5 17q25 RecQ protein-like 5 HCNGP 17q25.3 transcriptional regulator protein ITGB4 17q24.3 integrin, beta 4 GALK1 17q24 galactokinase 1 H3F3B 17q25 H3 histone, family 3B (H3.3B) KIAA1753 17q25.3 KIAA1753 protein UNC13D 17q25.3 unc-13 homolog D (C. elegans) WBP2 17q25 WW domain binding protein 2
    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