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FLASH GENE
Symbol RMRP contributors: mct/pgu - updated : 31-08-2010
HGNC name RNA component of mitochondrial RNA processing endoribonuclease
HGNC id 10031
Corresponding disease
CHH cartilage hair hypoplasia
SMD2 spondylometaphyseal dysplasia 2, Menger type
Location 9p13.3      Physical location : 35.657.747 - 35.658.015
Synonym name mitochondrial RNA-processing endoribonuclease
Synonym symbol(s) RMRPR, RRP2, NME1
DNA
TYPE small rna
STRUCTURE 0.26 kb     1 Exon(s)    single Copie(s)
regulatory sequence Promoter (TATA box)
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type untranslated transfer
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
HOMOLOGY
interspecies homolog to Rmrp1
Homologene
FAMILY
CATEGORY RNA associated
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
intracellular,nucleus,nucleolus
text RNA encoded by a single-copy gene in the nucleus and imported into mitochondria
basic FUNCTION
  • may be involved in the processing of 5,85 RNA ,critical for translation
  • involved in cleavage of RNA in mitochondrial DNA synthesis and nucleolar cleaving of pre-rRNA
  • essential cell growth regulator
  • encodes the untranslated RNA component of the mitochondrial RNA-processing ribonuclease, RNase MRP
    • CELLULAR PROCESS nucleotide
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a RNA processing enzyme
  • forming with TERT a ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-strand RNAs
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • may be interacting with RPS19
  • interacting with TERT
  • PNPT1-dependent import of RMRP into mitochondria
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHH , SMD2
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS