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FLASH GENE
Symbol LRPPRC contributors: mct/pgu - updated : 07-06-2010
HGNC name leucine-rich PPR-motif containing
HGNC id 15714
Corresponding disease
LSFC Leigh syndrome, French-Canadian type
Location 2p21      Physical location : 44.113.362 - 44.223.144
Genatlas name leucine-rich pentatricopeptide repeat motif-containing
Synonym name
  • leucine-rich protein 130
  • 130 kDa leucine-rich protein
  • CLONE-23970
    • Synonym symbol(s) LRP130, GP130, CLONE-23970
    DNA
    TYPE functioning gene
    STRUCTURE 109.78 kb     38 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    38 - 6637 - 1394 - Liu (2002)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveintestinelarge intestinecolon moderately
     intestinesmall intestine  lowly
     liver   highly
    Endocrineparathyroid   highly
     thyroid   highly
    Lymphoid/Immunespleen    
     thymus   lowly
    Nervousbrain    
    Reproductivefemale systemplacenta   
    Respiratorylung   lowly
     respiratory tracttrachea  highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal multiple copies of leucine rich nuclear transport signal
  • ENTH, DUF28 and SEC1 homology domain
  • 20 PPR (pentatricopeptide repeats)
    • HOMOLOGY
    interspecies homolog to murine Lrpprc (75.4pc)
    homolog to rattus Lrpprc (76.4pc)
    Homologene
    FAMILY
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,nucleus,nucleoplasm
    text
  • inner and outer membrane of nucleus
  • predominantly mitochondrial
  • primarily a mitochondrial protein, localized to the mitochondrial matrix
  • core mitochondrial nucleiod protein
    • basic FUNCTION
  • RNA-binding protein that is a constituent of postsplicing nuclear RNP complexes associated with mature mRNA
  • multidomain organizer that potentially integrates mitochondria and the microtubular cytoskeleton with chromosome remodeling
  • involved in integration of cytoskeletal networks with vesicular trafficking, nucleocytosolic shutting, chromosome remodeling
  • participating in mRNA processing both in the nucleus and the mitochondrion
  • having a role in transcription of the ABCB1 and MVP genes
  • required for the nuclear export arm of the regulon may function as energy sensors in the cell, coupling proliferation and survival to energy status
  • involved in the expression of genes related to hexose metabolism, prostaglandin synthesis and glycosphingolipid biology that may either play an adaptive role in cell survival or contribute to LSFC pathogenesis
  • may function as a chaperone involved in the assembly of mitochondrial complex IV, although it also binds nucleic acids
  • plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase subunits
  • activates mitochondrial transcription, activation that is associated with remodeling of mitochondria
  • stimulates oxidative phosphorylation
  • stimulates OXPHOS by promoting supercomplex formation, which increases cristae density
  • transcriptional activator of mitochondrial transcription
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export
    • INTERACTION
    DNA
  • binding single stranded DNA
    • RNA
  • binding to HNRPA1-associated mRNAs in the nucleus
  • may bind mature RNA in the nucleus outer membrane
  • binding poly(A)mRNA int eh mitochondria
    • small molecule
    protein
  • interacting with C6orf34, CECR2
  • interaction with UXT (increasing concentrations of UXT contributes to progressive aggregation of mitochondria and cell death potentially through association of UXT with LRPPRC)
  • interaction with EIF4E (promotes mRNA export by recruiting EIF4E away from its potent inhibitor, PML )
  • interacting with HEPB2, MAP1S, C19orf2, PPARGC1A, FOXO1
  • cooperating with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A tot ranscription factors
  • MAP1S interacted with mitochondrion-associated leucine-rich PPR-motif containing protein (LRPPRC) that interacts with the mitophagy initiator and Parkinson disease-related protein Parkin
  • increases gene expression of mitochondrially encoded genes, 13 of which encode OXPHOS subunits
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LSFC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS