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

Gene ID: 10128, updated on 7-Jul-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
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Genomic context

See LRPPRC in Genome Data Viewer
Location:
2p21
Exon count:
40
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (43886224..43996265, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (43891557..44001630, complement)
105.20220307 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 TAS
Traceable Author Statement
more info
 
located_in mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
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_2023_10

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