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

    Gene ID: 10128, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:15714
    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; MC4DN5; 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
    NEW
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    Genomic context

    See LRPPRC in Genome Data Viewer
    Location:
    2p21
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (43886224..43996265, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (43891557..44001630, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44113363..44223128, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene dynein cytoplasmic 2 light intermediate chain 1 Neighboring gene ATP binding cassette subfamily G member 5 Neighboring gene uncharacterized LOC102725159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11428 Neighboring gene ATP binding cassette subfamily G member 8 Neighboring gene Sharpr-MPRA regulatory region 9630 Neighboring gene RNA, U6 small nuclear 1048, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 455, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:44148324-44148425 Neighboring gene NANOG hESC enhancer GRCh37_chr2:44172069-44172634 Neighboring gene MPRA-validated peak3685 silencer Neighboring gene MPRA-validated peak3686 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:44213323-44213823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:44214736-44215236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:44215237-44215737 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:44222679-44223330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15682 Neighboring gene NANOG hESC enhancer GRCh37_chr2:44287458-44287993 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:44288829-44289402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15683 Neighboring gene uncharacterized LOC124907757 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:44352521-44353222 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:44361873-44362746 Neighboring gene RNA, U6 small nuclear 566, pseudogene

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
    MedGen: C1857355 OMIM: 220111 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.
    EBI GWAS 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    NOT enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial RNA catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrion transport along microtubule TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of mitochondrial RNA catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mitochondrial translation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in condensed nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion HTP PubMed 
    colocalizes_with mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of 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)

    NEW Try the new Transcript table

    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
      5017..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
      A0PJE3, A8K1V1, P42704, Q53PC0, Q53QN7, Q6ZUD8, Q7Z7A6, Q96D84
      UniProtKB/TrEMBL
      A0A804HL40, 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      43886224..43996265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442809.1XP_047298765.1  leucine-rich PPR motif-containing protein, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A804HL40
    2. XM_006711915.3XP_006711978.1  leucine-rich PPR motif-containing protein, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A804HL40
      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_006711916.4XP_006711979.1  leucine-rich PPR motif-containing protein, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A804HJH8
      Related
      ENSP00000507510.1, ENST00000683989.1
      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_007068563.1 RNA Sequence

      Related
      ENST00000684383.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      43891557..44001630 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340089.1XP_054196064.1  leucine-rich PPR motif-containing protein, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A804HL40
    2. XM_054340088.1XP_054196063.1  leucine-rich PPR motif-containing protein, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A804HL40
    3. XM_054340090.1XP_054196065.1  leucine-rich PPR motif-containing protein, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A804HJH8

    RNA

    1. XR_008486250.1 RNA Sequence