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FLASH GENE
Symbol MRPL48 contributors: - updated : 09-01-2006
HGNC name mitochondrial ribosomal protein L48
HGNC id 16653
DNA
TYPE functioning gene
STRUCTURE 77.00 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing 1538 23 212 - Zhang
this variant encodes the longer protein
- splicing 1663 - 52 - Zhang
has a shorter and distinct C-terminus
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus    
Cardiovascularheart    
Endocrinepancreas   highly
Respiratorylung    
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelial    
Lymphoid    
cells
SystemCellPubmedSpeciesStageRna symbol
Respiratoryepithelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to chimpanzee LOC451414
ortholog to murine Mrpl48
Homologene
FAMILY
CATEGORY structural protein
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,matrix
text mitochondrial ribosome
basic FUNCTION mitochondrial ribosomal protein helping in protein synthesis within the mitochondrion
CELLULAR PROCESS
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism
signaling
a component
  • component of the large subunit of the mitochondrial ribosome, including two RNA molecules and, at least, 70 proteins among which 47 proteins for the large subunit
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    rheumatoid arthritis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS