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

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LRPPRC promotes glycolysis by stabilising LDHA mRNA and its knockdown plus glutamine inhibitor induces synthetic lethality via m[6] A modification in triple-negative breast cancer.
Title: LRPPRC promotes glycolysis by stabilising LDHA mRNA and its knockdown plus glutamine inhibitor induces synthetic lethality via m(6) A modification in triple-negative breast cancer.
LRPPRC regulates malignant behaviors, protects mitochondrial homeostasis, mitochondrial function in osteosarcoma and derived cancer stem-like cells.
Title: LRPPRC regulates malignant behaviors, protects mitochondrial homeostasis, mitochondrial function in osteosarcoma and derived cancer stem-like cells.
GREM1, LRPPRC and SLC39A4 as potential biomarkers of intervertebral disc degeneration: a bioinformatics analysis based on multiple microarray and single-cell sequencing data.
Title: GREM1, LRPPRC and SLC39A4 as potential biomarkers of intervertebral disc degeneration: a bioinformatics analysis based on multiple microarray and single-cell sequencing data.
LRPPRC facilitates tumor progression and immune evasion through upregulation of m[6]A modification of PD-L1 mRNA in hepatocellular carcinoma.
Title: LRPPRC facilitates tumor progression and immune evasion through upregulation of m(6)A modification of PD-L1 mRNA in hepatocellular carcinoma.
Deubiquitylase PSMD14 inhibits autophagy to promote ovarian cancer progression via stabilization of LRPPRC.
Title: Deubiquitylase PSMD14 inhibits autophagy to promote ovarian cancer progression via stabilization of LRPPRC.
LncRNA SNHG17 interacts with LRPPRC to stabilize c-Myc protein and promote G1/S transition and cell proliferation.
Title: LncRNA SNHG17 interacts with LRPPRC to stabilize c-Myc protein and promote G1/S transition and cell proliferation.
LRPPRC contributes to the cisplatin resistance of lung cancer cells by regulating MDR1 expression.
Title: LRPPRC contributes to the cisplatin resistance of lung cancer cells by regulating MDR1 expression.
Messenger RNA delivery to mitoribosomes - hints from a bacterial toxin.
Title: Messenger RNA delivery to mitoribosomes - hints from a bacterial toxin.
Alzheimer's and Parkinson's brain tissues have reduced expression of genes for mtDNA OXPHOS Proteins, mitobiogenesis regulator PGC-1alpha protein and mtRNA stabilizing protein LRPPRC (LRP130).
Title: Alzheimer's and Parkinson's brain tissues have reduced expression of genes for mtDNA OXPHOS Proteins, mitobiogenesis regulator PGC-1α protein and mtRNA stabilizing protein LRPPRC (LRP130).
Fiber-specific and whole-muscle LRP130 expression in rested, exercised, and fasted human skeletal muscle.
Title: Fiber-specific and whole-muscle LRP130 expression in rested, exercised, and fasted human skeletal muscle.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S1761 (e-PCR)
- UniSTS:68113

RH65967 (e-PCR)
- UniSTS:15148

RH11763 (e-PCR)
- UniSTS:31805

RH70240 (e-PCR)
- UniSTS:73544

SHGC-8019 (e-PCR)
- UniSTS:13419

RH91337 (e-PCR)
- UniSTS:83870

D2S2298 (e-PCR), detects polymorphism
- UniSTS:40351

SHGC-81724 (e-PCR)
- UniSTS:103901

D2S1882 (e-PCR)
- UniSTS:153574

D2S4009 (e-PCR)
- UniSTS:226025

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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 more info	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
located_in mitochondrion	HTP 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

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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)

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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.

Genomic

NG_008247.1 RefSeqGene

Range

5017..114782

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_133259.4 → NP_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:199 → 226

PPR; PPR repeat [structural motif]

pfam13041
Location:195 → 244

PPR_2; PPR repeat family

cl03252
Location:192 → 224

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

43886224..43996265 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442809.1 → XP_047298765.1 leucine-rich PPR motif-containing protein, mitochondrial isoform X2
XM_006711915.3 → XP_006711978.1 leucine-rich PPR motif-containing protein, mitochondrial isoform X1

UniProtKB/TrEMBL

A0A804HL40

Conserved Domains (3) summary

sd00004
Location:173 → 200

PPR; PPR repeat [structural motif]

pfam13041
Location:169 → 218

PPR_2; PPR repeat family

cl03252
Location:166 → 198

PPR; PPR repeat
XM_006711916.4 → XP_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:199 → 226

PPR; PPR repeat [structural motif]

pfam13041
Location:195 → 244

PPR_2; PPR repeat family

cl03252
Location:192 → 224

PPR; PPR repeat

RNA

XR_007068563.1 RNA Sequence

Related

ENST00000684383.1

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

43891557..44001630 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340089.1 → XP_054196064.1 leucine-rich PPR motif-containing protein, mitochondrial isoform X2
XM_054340088.1 → XP_054196063.1 leucine-rich PPR motif-containing protein, mitochondrial isoform X1
XM_054340090.1 → XP_054196065.1 leucine-rich PPR motif-containing protein, mitochondrial isoform X3