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FLASH GENE
Symbol MRPS34 contributors: mct - updated : 20-09-2017
HGNC name mitochondrial ribosomal protein S34
HGNC id 16618
Corresponding disease
COXPD32 combined oxidative phosphorylation deficiency 32
Location 16p13.3      Physical location : 1.821.896 - 1.823.140
Synonym name
  • hypothetical protein MGC2616
  • Synonym symbol(s) MRPS12, MRP-S12, MRP-S34, MGC2616, COXPD32
    DNA
    TYPE functioning gene
    STRUCTURE 1.26 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text
  • a possible splice variant (O'Brien, 2000)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1020 25.5 218 - 2017 28777931
    3 - 1041 - 225 - 2017 28777931
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepancreas exocrine   moderately
     salivary gland   highly
    Reproductivefemale systemuteruscervix moderately
     female systemplacenta  moderately
     male systemprostate  highly
    Respiratorylung   highly
    Skin/Tegumentskin   moderately
    Urinarykidney   moderately
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  moderately
    cell lineage
    cell lines
    fluid/secretion highly in lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to rattus Mrps34 (88.5 pc)
    homolog to murine Mrps34 (89.5 pc)
    Homologene
    FAMILY ribosomal protein S34P family
    CATEGORY structural protein , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic,ribosome
    text mitochondrial ribosome
    basic FUNCTION
  • involved in mitochondrial proteins biosynthesis
  • playing a role in ribosomal structure and biogenesis
  • is required for normal function of the mitoribosome
  • is required for efficient mitochondrial translation
  • CELLULAR PROCESS protein, translation/synthesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the small subunit (28S) of the mitochondrial ribosome, including two RNA molecules and 78 MRPs among which 31 proteins for the small subunit
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COXPD32
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with a homozygous Mrps34 missense mutation that caused reduced MRPS34 protein stability developed cardiac hypertrophy and pronounced liver dysfunction due to impaired mitoribosome assembly