Lrpprc leucine-rich PPR-motif containing [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lrpprcprovided by MGI
Official Full Name: leucine-rich PPR-motif containingprovided by MGI
Primary source: MGI:MGI:1919666
See related: Ensembl:ENSMUSG00000024120 AllianceGenome:MGI:1919666
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Lsfc; Gp130; Lrp130; 3110001K13Rik
Summary: Enables RNA binding activity and single-stranded DNA binding activity. Acts upstream of or within negative regulation of mitochondrial RNA catabolic process and regulation of mitochondrial translation. Located in mitochondrion and nucleus. Part of ribonucleoprotein complex. Is expressed in several structures, including brain; genitourinary system; heart; liver; and skeletal muscle. Human ortholog(s) of this gene implicated in French Canadian Leigh disease and Leigh disease. Orthologous to human LRPPRC (leucine rich pentatricopeptide repeat containing). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 18.8), liver E18 (RPKM 15.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 E4; 17 55.02 cM

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (85012675..85098214, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (84705247..84790786, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adaptive optimization of the OXPHOS assembly line partially compensates lrpprc-dependent mitochondrial translation defects in mice.
Title: Adaptive optimization of the OXPHOS assembly line partially compensates lrpprc-dependent mitochondrial translation defects in mice.
LRPPRC sustains Yap-P27-mediated cell ploidy and P62-HDAC6-mediated autophagy maturation and suppresses genome instability and hepatocellular carcinomas.
Title: LRPPRC sustains Yap-P27-mediated cell ploidy and P62-HDAC6-mediated autophagy maturation and suppresses genome instability and hepatocellular carcinomas.
Study demonstrated that the LRPPRC-SLIRP complex is a global RNA chaperone that stabilizes RNA structures to expose the required sites for translation, stabilization, and polyadenylation.
Title: LRPPRC-mediated folding of the mitochondrial transcriptome.
Data suggest NT-Pgc-1alpha (alternative splicing isoform of nuclear protein Pgc-1alpha) is located in mitochondrial matrix in brown adipocytes, specifically enriched at D-loop region of mitochondrial DNA at promoter region of Lrpprc (leucine-rich PPR-motif containing protein); expression of NT-Pgc-1alpha (rather than Pgc-1alpha) in brown adipocytes appears to induce expression of electron transport chain complex proteins.
Title: An unexpected role for the transcriptional coactivator isoform NT-PGC-1α in the regulation of mitochondrial respiration in brown adipocytes.
both LRPPRC and SLIRP are required for maintaining mt-mRNA steady-state levels independent of their roles in stabilizing the other partner of the LRPPRC-SLIRP complex.
Title: SLIRP Regulates the Rate of Mitochondrial Protein Synthesis and Protects LRPPRC from Degradation.
Ectopic expression of LRPPRC in the mouse liver completely interdicted non-alcoholic fatty liver disease, including inflammation.
Title: OXPHOS-Mediated Induction of NAD+ Promotes Complete Oxidation of Fatty Acids and Interdicts Non-Alcoholic Fatty Liver Disease.
LRPPRC deficiency in Leigh syndrome causes an ATP synthase deficiency.
Title: Loss of LRPPRC causes ATP synthase deficiency.
LRPPRC does not directly regulate mtDNA transcription but rather acts as a post-transcriptional regulator of mammalian mtDNA expression.
Title: The leucine-rich pentatricopeptide repeat-containing protein (LRPPRC) does not activate transcription in mammalian mitochondria.
Heart-specific Lrpprc disruption causes mitochondrial cardiomyopathy with drastic reduction in steady-state mitochondrial mRNA levels. LRPPRC forms an RNA-dependent protein complex needed to maintain a mitochondrial pool of non-translated mRNAs.
Title: LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs.
These data strongly suggest that LRPPRC is involved in the maturation of cytochrome c oxidase (COX), and is involved in stabilizing of mitochondrial mRNAs encoding COX transcripts.
Title: LRPPRC mutation suppresses cytochrome oxidase activity by altering mitochondrial RNA transcript stability in a mouse model.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126563 (e-PCR)
- UniSTS:209689

Lrpprc (e-PCR), detects polymorphism
- UniSTS:479007

C76645 (e-PCR)
- UniSTS:160191

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
NOT enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables beta-tubulin binding	ISO Inferred from Sequence Orthology more info
enables beta-tubulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables mRNA 3'-UTR binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

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
acts_upstream_of mitochondrial RNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of mitochondrial RNA catabolic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of mitochondrial RNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial translation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of mitochondrial translation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in condensed nuclear chromosome	ISO Inferred from Sequence Orthology more info
located_in condensed nuclear chromosome	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in microtubule	ISO Inferred from Sequence Orthology more info
located_in mitochondrial nucleoid	IEA Inferred from Electronic Annotation more info
located_in mitochondrial nucleoid	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IC Inferred by Curator more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
colocalizes_with mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
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 nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: leucine-rich PPR motif-containing protein, mitochondrial

Names: 130 kDa leucine-rich protein; leucine rich protein LRP130

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_028233.2 → NP_082509.2 leucine-rich PPR motif-containing protein, mitochondrial precursor

See identical proteins and their annotated locations for NP_082509.2

Status: VALIDATED

Source sequence(s)

AC165360, BC059862

Consensus CDS

CCDS29003.2

UniProtKB/Swiss-Prot

Q6PB66, Q8K4V0, Q9CRX4

Related

ENSMUSP00000107927.3, ENSMUST00000112308.9

Conserved Domains (4) summary

sd00004
Location:198 → 225

PPR; PPR repeat [structural motif]

pfam13041
Location:194 → 243

PPR_2; PPR repeat family

pfam13812
Location:231 → 264

PPR_3; Pentatricopeptide repeat domain

cl03252
Location:191 → 223

PPR; PPR repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

85012675..85098214 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011246643.4 → XP_011244945.1 leucine-rich PPR motif-containing protein, mitochondrial isoform X1

Conserved Domains (1) summary

sd00004
Location:20 → 46

PPR; PPR repeat [structural motif]