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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LRPPRC Gene

protein-coding   GIFtS: 61
GCID: GC02M044113

Leucine-Rich Pentatricopeptide Repeat Containing

(Previous names: Leigh syndrome, French-Canadian type (cytochrome oxidase...)
(Previous symbol: LSFC)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Leucine-Rich Pentatricopeptide Repeat Containing1 2     Leigh Syndrome, French-Canadian Type (Cytochrome Oxidase Deficiency)1
LSFC1 2 5     CLONE-239702
LRP1302 3 5     Leucine-Rich PPR Motif-Containing Protein, Mitochondrial2
130 KDa Leucine-Rich Protein2 3     Leucine-Rich PPR-Motif Containing2
GP1302 3     Mitochondrial Leucine-Rich PPR Motif-Containing Protein2
LRP 1302 3     

External Ids:    HGNC: 157141   Entrez Gene: 101282   Ensembl: ENSG000001380957   OMIM: 6075445   UniProtKB: P427043   

Export aliases for LRPPRC gene to outside databases

Previous GC identifers: GC02M044114 GC02M044283 GC02M044089 GC02M044026 GC02M043850


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LRPPRC Gene:
This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of
this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport,
or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to
mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are
associated with the French-Canadian type of Leigh syndrome. (provided by RefSeq, Mar 2012)

GeneCards Summary for LRPPRC Gene: 
LRPPRC (leucine-rich pentatricopeptide repeat containing) is a protein-coding gene. Diseases associated with LRPPRC include leigh syndrome, french canadian type, and metabolic acidosis. GO annotations related to this gene include actin filament binding and RNA binding.

UniProtKB/Swiss-Prot: LPPRC_HUMAN, P42704
Function: May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to
HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are
possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria
binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase
(COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain
mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription
factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part
of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA
(By similarity)

Gene Wiki entry for LRPPRC Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LRPPRC gene promoter:
         STAT5B   STAT1   STAT4   STAT6   STAT1beta   Nkx2-5   STAT5A   STAT1alpha   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRPPRC promoter sequence
   Search SABiosciences Chromatin IP Primers for LRPPRC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRPPRC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p21

LRPPRC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRPPRC gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M044113:  view genomic region     (about GC identifiers)

Start:
44,113,363 bp from pter      End:
44,223,144 bp from pter
Size:
109,782 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LPPRC_HUMAN, P42704 (See protein sequence)
Recommended Name: Leucine-rich PPR motif-containing protein, mitochondrial precursor  
Size: 1394 amino acids; 157905 Da
Subunit: Interacts with CECR2, HEBP2, MAP1S and UXT. Interacts with PPARGC1A. Interacts with FOXO1 (By
similarity). Component of mRNP complexes associated with HNRPA1
Subcellular location: Mitochondrion. Nucleus, nucleoplasm. Nucleus inner membrane. Nucleus outer membrane.
Note=Seems to be predominantly mitochondrial
Sequence caution: Sequence=AAA67549.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAA67549.1; Type=Frameshift; Positions=Several;
Secondary accessions: A0PJE3 A8K1V1 Q53PC0 Q53QN7 Q6ZUD8 Q7Z7A6 Q96D84

Explore the universe of human proteins at neXtProt for LRPPRC: NX_P42704

Explore proteomics data for LRPPRC at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P42704

  • LRPPRC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LRPPRC Protein Expression
    REFSEQ proteins: NP_573566.2  
    ENSEMBL proteins: 
     ENSP00000260665   ENSP00000414207   ENSP00000386234   ENSP00000386562   ENSP00000403637  

    Human Recombinant Protein Products for LRPPRC: 
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    Novus Biologicals LRPPRC Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LRPPRC 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000794condensed nuclear chromosome IDA12762840
    GO:0005634nucleus IDA12762840
    GO:0005637nuclear inner membrane IEA--
    GO:0005640nuclear outer membrane IEA--
    GO:0005654nucleoplasm IEA--

    LRPPRC for ontologies           About GeneDecksing



    LRPPRC Antibody Products: 
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    ThermoFisher Antibody for LRPPRC
    LSBio Antibodies in human, mouse, rat for LRPPRC 

    Assay Products for LRPPRC: 
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    Cloud-Clone Corp. ELISAs for LRPPRC 
    Cloud-Clone Corp. CLIAs for LRPPRC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR002885 Pentatricopeptide_repeat

    Graphical View of Domain Structure for InterPro Entry P42704

    ProtoNet protein and cluster: P42704

    1 Blocks protein domain: IPB002885 PPR repeat

    UniProtKB/Swiss-Prot: LPPRC_HUMAN, P42704
    Similarity: Contains 20 PPR (pentatricopeptide) repeats


    LRPPRC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LPPRC_HUMAN, P42704
    Function: May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to
    HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are
    possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria
    binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase
    (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain
    mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription
    factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part
    of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA
    (By similarity)

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003697single-stranded DNA binding IEA--
    GO:0003723RNA binding NAS12832482
    GO:0005515protein binding IPI15907802
    GO:0008017microtubule binding TAS12762840
    GO:0048487beta-tubulin binding IDA12762840
         
    LRPPRC for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LRPPRC:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Lrpprc):
     cardiovascular system  cellular  embryogenesis  growth/size  mortality/aging 

    LRPPRC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lrpprctm1.2Lrsn for LRPPRC

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LRPPRC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LRPPRC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LRPPRC 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LRPPRC 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LRPPRC
    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate LRPPRC (see all 10):
    hsa-miR-3163 hsa-miR-607 hsa-miR-205 hsa-miR-875-3p hsa-miR-3935 hsa-miR-2278 hsa-miR-1305 hsa-miR-34b
    SwitchGear 3'UTR luciferase reporter plasmidLRPPRC 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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                         Customized lentivirus expression plasmids for stable overexpression of LRPPRC 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRPPRC


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LRPPRC About                                                                                                See pathways by source

    SuperPathContained pathways About
    1TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway


    1 BioSystems Pathway for LRPPRC
        TNF-alpha/NF-kB Signaling Pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LRPPRC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/411 Interacting proteins for LRPPRC (P427041, 2, 3 ENSP000002606654) via UniProtKB, MINT, STRING, and/or I2D (see all 411)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF4EP067302, 3, ENSP000002808924MINT-7234946 MINT-7234984 MINT-7234837 MINT-7234920 MINT-7234963 MINT-7234999 I2D: score=1 STRING: ENSP00000280892
    YWHAZP631042, 3, ENSP000003095034MINT-3318393 MINT-3296940 I2D: score=1 STRING: ENSP00000309503
    PPARGC1AQ9UBK21, 3, ENSP000002648674EBI-1050853,EBI-765486 I2D: score=3 STRING: ENSP00000264867
    HNRNPA1P096512, ENSP000003418264MINT-7234837 MINT-8395092 STRING: ENSP00000341826
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000961negative regulation of mitochondrial RNA catabolic process IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0047497mitochondrion transport along microtubule TAS12762840
    GO:0051028mRNA transport IEA--

    LRPPRC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LRPPRC (LPPRC)

    Search CenterWatch for drugs/clinical trials and news about LRPPRC / LPPRC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LRPPRC gene: 
    NM_133259.3  

    Unigene Cluster for LRPPRC:

    Leucine-rich pentatricopeptide repeat containing
    Hs.368084  [show with all ESTs]
    Unigene Representative Sequence: NM_133259
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260665(uc002rtr.2 uc010yob.1) ENST00000419884 ENST00000463456
    ENST00000472420 ENST00000483489 ENST00000467058 ENST00000409946 ENST00000409659
    ENST00000447246(uc010faw.1)
    miRNA
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate LRPPRC (see all 10):
    hsa-miR-3163 hsa-miR-607 hsa-miR-205 hsa-miR-875-3p hsa-miR-3935 hsa-miR-2278 hsa-miR-1305 hsa-miR-34b
    SwitchGear 3'UTR luciferase reporter plasmidLRPPRC 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LRPPRC
    Clone
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    OriGene clones in human, mouse for LRPPRC (see all 8)
    OriGene ORF clones in mouse, rat for LRPPRC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LRPPRC (NM_133259)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LRPPRC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRPPRC
    Sirion Biotech Customized lentivirus for stable overexpression of LRPPRC 
                         Customized lentivirus expression plasmids for stable overexpression of LRPPRC 
    Primer
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    OriGene qPCR primer pairs and template standards for LRPPRC
    OriGene qSTAR qPCR primer pairs in human, mouse for LRPPRC
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LRPPRC
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LRPPRC

    Additional mRNA sequence: 

    AF052133.1 AK125781.1 AK130686.1 AK290016.1 AK299869.1 AK308348.1 AY289212.1 BC010282.1 
    BC026034.1 BC050311.1 BC130285.1 M92439.1 

    24 DOTS entries:

    DT.448324  DT.101967385  DT.101972165  DT.99932958  DT.120973831  DT.100829245  DT.91872087  DT.95122153 
    DT.100829251  DT.100829252  DT.120973797  DT.120973839  DT.95069904  DT.95240435  DT.100829253  DT.40117778 
    DT.100651920  DT.120973767  DT.91864444  DT.95240425  DT.100660221  DT.100736852  DT.452250  DT.95227404 

    24/541 AceView cDNA sequences (see all 541):

    BE694177 BE302134 CB131311 CA430402 BX462603 AI473549 CA419512 AA569998 
    AU118081 BU149202 BQ636801 AI655174 BG621362 BU629116 AL135588 BM756991 
    BF797898 AA233581 AA115424 BU171002 BG255344 AA906663 BM853680 AA101853 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for LRPPRC (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:              -                                                                                                                                             
    SP5:                                                                                                                                                            

    ExUns: 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34 ^ 35a · 35b
    SP1:                                                                          -           -                             -                           
    SP2:                                                                                                                                                
    SP3:                                                                                                                                                
    SP4:                                                                                                                                                
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for LRPPRC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LRPPRC expression in normal human tissues (normalized intensities)      LRPPRC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATTTTGAA
    LRPPRC Expression
    About this image


    LRPPRC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Uterus (Reproductive System)    fully expand to see all 4 entries
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    See LRPPRC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LRPPRC

    SOURCE GeneReport for Unigene cluster: Hs.368084

    UniProtKB/Swiss-Prot: LPPRC_HUMAN, P42704
    Tissue specificity: Expressed ubiquitously. Expression is highest in heart, skeletal muscle, kidney and liver,
    intermediate in brain, non-mucosal colon, spleen and placenta, and lowest in small intestine, thymus, lung and
    peripheral blood leukocytes

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LRPPRC gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lrpprc1 , 5 leucine-rich PPR-motif containing1, 5 79.57(n)1
    75.36(a)1
      17 (55.02 cM)5
    724161  NM_028233.21  NP_082509.21 
     847052475 
    chicken
    (Gallus gallus)
    Aves LRPPRC1 leucine-rich PPR-motif containing 66.47(n)
    58.51(a)
      421403  XM_001234902.2  XP_001234903.2 
    lizard
    (Anolis carolinensis)
    Reptilia LRPPRC6
    leucine-rich pentatricopeptide repeat containing
    60(a)
    1 ↔ 1
    GL343231.1(1857159-2026669)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC057718.12   -- 74.13(n)    BC057718.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CF996816.12   -- 72.88(n)    CF996816.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta bsf1 , 3 mRNA binding, 3' UTR3
    bicoid stability factor1
    30(a)3
    44.52(n)1
    33.55(a)1
      36E33
    351001  NM_078872.41  NP_523596.21 


    ENSEMBL Gene Tree for LRPPRC (if available)
    TreeFam Gene Tree for LRPPRC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LRPPRC gene

    LRPPRC for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for LRPPRC
    PGOHUM00000248149


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2918 SNPs in LRPPRC are shown (see all 2918)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0186564
    Leigh syndrome French-Canadian type (LSFC)4--see VAR_0186562 A V mis40--------
    rs750058441,2
    C--43905299(+) AGTCT-/A/CTA 
            
    AAAAA
    2 -- int1 cds10--------
    rs2005564881,2
    C--43954392(+) AGGTTC/TTTTTT 1 -- int10--------
    rs713932191,2
    C--43954583(+) TTTTAT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1400674911,2
    --43982426(+) TTTGTC/TAGTTG 1 -- ds50010--------
    rs772739531,2
    F--43982512(+) TAATTC/TTAAGA 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1149194881,2
    C,F--43982632(+) AGGCCA/GAGGTG 1 -- ds50011Minor allele frequency- G:0.13WA 118
    rs727988451,2
    C,F--43982675(+) AGCCTG/AGGCAA 1 -- ds50013Minor allele frequency- A:0.25WA NA EA 358
    rs1842089161,2
    --43982690(+) ACAAAA/TCTCTG 1 -- ds50010--------
    rs75808681,2
    C,F,A,H--43982840(+) aggccG/Aggcaa 1 -- ds50019Minor allele frequency- A:0.08NS EA NA WA 644

    HapMap Linkage Disequilibrium report for LRPPRC (44113363 - 44223144 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for LRPPRC:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv457174CNV Gain19166990


    Human Gene Mutation Database (HGMD): LRPPRC
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607544   
    OMIM disorders: 220111  
    UniProtKB/Swiss-Prot: LPPRC_HUMAN, P42704
  • Leigh syndrome French-Canadian type (LSFC) [MIM:220111]: Severe neurological disorder characterized by
    bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic
    cytochrome c oxidase (COX) deficiency. In the Saguenay-Lac Saint Jean region of Quebec province in Canada, a
    biochemically distinct form of Leigh syndrome with COX deficiency has been described. Patients have been observed
    to have a developmental delay, hypotonia, mild facial dysmorphism, chronic well-compensated metabolic acidosis,
    and high mortality due to episodes of severe acidosis and coma. Enzyme activity was close to normal in kidney and
    heart, 50% of normal in fibroblasts and skeletal muscle, and nearly absent in brain and liver. LSFC patients show
    reduced (<30%) levels of LRPPRC in both fibroblast and liver mitochondria and a specifically reduced translation
    of COX subunits MT-CO1/COXI and MT-CO3 (COXIII). Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 6 diseases for LRPPRC:    About MalaCards
    leigh syndrome, french canadian type    metabolic acidosis    mitochondrial disorders    hepatoblastoma
    hypotonia    neuroblastoma

    1 disease from the University of Copenhagen DISEASES database for LRPPRC:
    Leigh disease

    LRPPRC for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for LRPPRC gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytochrome c oxidase deficiency 90.9 2 12832482 (1), 15139850 (1)
    leigh syndrome 82.6 2 18039654 (1), 15139850 (1)

    Genetic Association Database (GAD): LRPPRC
    Human Genome Epidemiology (HuGE) Navigator: LRPPRC (2 documents)

    Export disorders for LRPPRC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LRPPRC gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with LRPPRC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of the gene for a major leucine-rich protein from human hepatoblastoma cells (HepG2). (PubMed id 8012652)1, 2, 3, 9 Hou J.... McKeehan W.L. (1994)
    2. LRP130, a pentatricopeptide motif protein with a noncanonical RNA- binding domain, is bound in vivo to mitochondrial and nuclear RNAs. (PubMed id 12832482)1, 2, 9 Mili S. and Pinol-Roma S. (2003)
    3. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. (PubMed id 12529507)1, 2, 9 Mootha V.K.... Lander E.S. (2003)
    4. LRPPRC is necessary for polyadenylation and coordinat ion of translation of mitochondrial mRNAs. (PubMed id 22045337)1, 3 Ruzzenente B....Larsson N.G. (2012)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    6. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (2010)
    7. Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex. (PubMed id 17050673)1, 2 Cooper M.P.... Spiegelman B.M. (2006)
    8. Putative tumor suppressor RASSF1 interactive protein and cell death inducer C19ORF5 is a DNA binding protein. (PubMed id 15907802)1, 2 Liu L.... McKeehan W.L. (2005)
    9. New invMED1 element cis-activates human multidrug-related MDR1 and MVP genes, involving the LRP130 protein. (PubMed id 15272088)1, 2 Labialle S....Baggetto L.G. (2004)
    10. Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity. (PubMed id 11827465)1, 2 Liu L. and McKeehan W.L. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10128 HGNC: 15714 AceView: LRPPRC Ensembl:ENSG00000138095 euGenes: HUgn10128
    ECgene: LRPPRC H-InvDB: LRPPRC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LRPPRC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LRPPRC

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LRPPRC gene:
    Search GeneIP for patents involving LRPPRC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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