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

Gene ID: 10128, updated on 11-Sep-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
109.20190905 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 Functions

What'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
    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
    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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