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

Gene ID: 72416, updated on 18-Apr-2024

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, Apr 2022]
Expression
Ubiquitous expression in placenta adult (RPKM 18.8), liver E18 (RPKM 15.7) and 28 other tissues See more
Orthologs
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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_000083.7Genomic Context describing neighboring genes Neighboring gene dynein cytoplasmic 2 light intermediate chain 1 Neighboring gene ATP binding cassette subfamily G member 5 Neighboring gene ATP binding cassette subfamily G member 8 Neighboring gene STARR-seq mESC enhancer starr_43448 Neighboring gene STARR-seq mESC enhancer starr_43449 Neighboring gene STARR-positive B cell enhancer ABC_E3219 Neighboring gene predicted gene, 53965 Neighboring gene predicted gene, 46582

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Gene trapped (1) 
  • Targeted (4)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables beta-tubulin binding ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in condensed nuclear chromosome ISO
Inferred from Sequence Orthology
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 membrane IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial nucleoid ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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 perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
part_of ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

  1. NM_028233.2NP_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:198225
    PPR; PPR repeat [structural motif]
    pfam13041
    Location:194243
    PPR_2; PPR repeat family
    pfam13812
    Location:231264
    PPR_3; Pentatricopeptide repeat domain
    cl03252
    Location:191223
    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

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    85012675..85098214 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    sd00004
    Location:2046
    PPR; PPR repeat [structural motif]