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    LRPPRC leucine rich pentatricopeptide repeat containing [ Homo sapiens (human) ]

    Gene ID: 10128, updated on 7-Jul-2019

    Summary

    Official Symbol
    LRPPRCprovided by HGNC
    Official Full Name
    leucine rich pentatricopeptide repeat containingprovided by HGNC
    Primary source
    HGNC:HGNC:15714
    See related
    Ensembl:ENSG00000138095 MIM:607544
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LSFC; GP130; LRP130; CLONE-23970
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 30.9), colon (RPKM 26.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See LRPPRC in Genome Data Viewer
    Location:
    2p21
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (43886224..43995989, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44113363..44223144, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene dynein cytoplasmic 2 light intermediate chain 1 Neighboring gene uncharacterized LOC102725159 Neighboring gene ATP binding cassette subfamily G member 5 Neighboring gene ATP binding cassette subfamily G member 8 Neighboring gene RNA, U6 small nuclear 1048, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 455, pseudogene Neighboring gene uncharacterized LOC102723904 Neighboring gene RNA, U6 small nuclear 566, pseudogene Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1B

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Leigh syndrome, French Canadian type
    MedGen: C1857355 OMIM: 220111 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of leucine-rich pentatricopeptide repeat containing (LRPPRC) by shRNA inhibits HIV-1 infection in HeLa T4 beta-gal cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify leucine-rich pentatricopeptide repeat containing (LRPPRC, LRP130), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify leucine-rich pentatricopeptide repeat containing (LRPPRC, LRP130), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify leucine-rich pentatricopeptide repeat containing (LRPPRC, LRP130), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify leucine-rich pentatricopeptide repeat containing (LRPPRC, LRP130), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with leucine-rich PPR-motif containing (LRPPRC) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    integrase gag-pol LRPPRC is associated with HIV-1 IN, MA, RNA, and DNA in the RTCs and PICs during early infection. Loss of LRPPRC reduces HIV-1 PIC formation and nuclear import PubMed
    matrix gag LRPPRC is associated with HIV-1 IN, MA, RNA, and DNA in the RTCs and PICs during early infection. Loss of LRPPRC reduces HIV-1 PIC formation and nuclear import PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Respiratory electron transport, organism-specific biosystem (from REACTOME)
      Respiratory electron transport, organism-specific biosystemMitochondria are often described as the "powerhouse" of a cell as it is here that energy is largely released from the oxidation of food. Reducing equivalents generated from beta-oxidation of fatty ac...
    • Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystem (from REACTOME)
      Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystemOxidation of fatty acids and pyruvate in the mitochondrial matrix yield large amounts of NADH. The respiratory electron transport chain couples the re-oxidation of this NADH to NAD+ to the export of ...
    • TP53 Regulates Metabolic Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Metabolic Genes, organism-specific biosystemWhile the p53 tumor suppressor protein (TP53) is known to inhibit cell growth by inducing apoptosis, senescence and cell cycle arrest, recent studies have found that p53 is also able to influence cel...
    • The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
      The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    RNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    NOT actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    mRNA transport IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion transport along microtubule TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of mitochondrial RNA catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of mitochondrial translation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    condensed nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane HDA PubMed 
    microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    leucine-rich PPR motif-containing protein, mitochondrial
    Names
    130 kDa leucine-rich protein
    LRP 130
    leucine-rich PPR-motif containing
    mitochondrial leucine-rich PPR motif-containing protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008247.1 RefSeqGene

      Range
      5001..114782
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_133259.4NP_573566.2  leucine-rich PPR motif-containing protein, mitochondrial precursor

      See identical proteins and their annotated locations for NP_573566.2

      Status: REVIEWED

      Source sequence(s)
      AC108476, AY289212, BC130285, BQ021667
      Consensus CDS
      CCDS33189.1
      UniProtKB/Swiss-Prot
      P42704
      UniProtKB/TrEMBL
      E5KNY5
      Related
      ENSP00000260665.7, ENST00000260665.12
      Conserved Domains (3) summary
      sd00004
      Location:199226
      PPR; PPR repeat [structural motif]
      pfam13041
      Location:195244
      PPR_2; PPR repeat family
      cl03252
      Location:192224
      PPR; PPR repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      43886224..43995989 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532473.1XP_011530775.1  leucine-rich PPR motif-containing protein, mitochondrial isoform X1

      Conserved Domains (3) summary
      sd00004
      Location:199226
      PPR; PPR repeat [structural motif]
      pfam13041
      Location:195244
      PPR_2; PPR repeat family
      cl03252
      Location:192224
      PPR; PPR repeat
    2. XM_006711915.2XP_006711978.1  leucine-rich PPR motif-containing protein, mitochondrial isoform X2

      Conserved Domains (3) summary
      sd00004
      Location:173200
      PPR; PPR repeat [structural motif]
      pfam13041
      Location:169218
      PPR_2; PPR repeat family
      cl03252
      Location:166198
      PPR; PPR repeat
    3. XM_017003117.1XP_016858606.1  leucine-rich PPR motif-containing protein, mitochondrial isoform X3

    4. XM_006711916.3XP_006711979.1  leucine-rich PPR motif-containing protein, mitochondrial isoform X4

      Conserved Domains (3) summary
      sd00004
      Location:199226
      PPR; PPR repeat [structural motif]
      pfam13041
      Location:195244
      PPR_2; PPR repeat family
      cl03252
      Location:192224
      PPR; PPR repeat

    RNA

    1. XR_002958896.1 RNA Sequence

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