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Aliases for LRPPRC Gene

Aliases for LRPPRC Gene

  • Leucine Rich Pentatricopeptide Repeat Containing 2 3 5
  • 130 KDa Leucine-Rich Protein 3 4
  • LRP 130 3 4
  • LRP130 3 4
  • GP130 3 4
  • Leigh Syndrome, French-Canadian Type (Cytochrome Oxidase Deficiency) 2
  • Leucine-Rich PPR Motif-Containing Protein, Mitochondrial 3
  • Mitochondrial Leucine-Rich PPR Motif-Containing Protein 3
  • Leucine-Rich PPR-Motif Containing 3
  • CLONE-23970 3
  • LSFC 3

External Ids for LRPPRC Gene

Previous HGNC Symbols for LRPPRC Gene

  • LSFC

Previous GeneCards Identifiers for LRPPRC Gene

  • GC02M044114
  • GC02M044283
  • GC02M044089
  • GC02M044026
  • GC02M044113

Summaries for LRPPRC Gene

Entrez Gene Summary for LRPPRC Gene

  • 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]

GeneCards Summary for LRPPRC Gene

LRPPRC (Leucine Rich Pentatricopeptide Repeat Containing) is a Protein Coding gene. Diseases associated with LRPPRC include Leigh Syndrome, French-Canadian Type and Nuclear Gene-Encoded Leigh Syndrome. Among its related pathways are Metabolism and TP53 Regulates Metabolic Genes. GO annotations related to this gene include poly(A) RNA binding and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot for LRPPRC Gene

  • May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA (By similarity).

Gene Wiki entry for LRPPRC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRPPRC Gene

Genomics for LRPPRC Gene

Regulatory Elements for LRPPRC Gene

Enhancers for LRPPRC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F043994 0.5 ENCODE 15.9 +0.2 214 2.6 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 LRPPRC ZFP36L2 PLEKHH2 GC02P043995 RN7SL455P
GH02F044044 0.8 Ensembl ENCODE 15.6 -48.4 -48447 0.7 PKNOX1 MLX WRNIP1 ARID4B SIN3A ZNF48 YY1 GLIS2 ELK1 ZNF143 LRPPRC ENSG00000219391 GC02P044023
GH02F044005 0.7 Ensembl 13.2 -9.9 -9896 0.2 LRPPRC GC02P044018
GH02F043985 0.4 FANTOM5 9.3 +10.8 10836 0.2 HDAC1 ZNF175 MAFG ZEB2 ARID1B ZNF316 MAFF ZNF589 POLR2A ZNF584 LRPPRC GC02P043995 RN7SL455P
GH02F043884 0.5 ENCODE 9.2 +111.2 111199 0.3 SOX13 GATAD2A TEAD1 HLF FOXA3 CEBPB JUND CEBPA BCL6 CUX1 ABCG5 ABCG8 PLEKHH2 LRPPRC GC02P043893 LOC102725159
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around LRPPRC on UCSC Golden Path with GeneCards custom track

Promoters for LRPPRC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000012791 5 2400 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207

Genomic Location for LRPPRC Gene

Chromosome:
2
Start:
43,886,224 bp from pter
End:
43,996,005 bp from pter
Size:
109,782 bases
Orientation:
Minus strand

Genomic View for LRPPRC Gene

Genes around LRPPRC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRPPRC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRPPRC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRPPRC Gene

Proteins for LRPPRC Gene

  • Protein details for LRPPRC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42704-LPPRC_HUMAN
    Recommended name:
    Leucine-rich PPR motif-containing protein, mitochondrial
    Protein Accession:
    P42704
    Secondary Accessions:
    • A0PJE3
    • A8K1V1
    • Q53PC0
    • Q53QN7
    • Q6ZUD8
    • Q7Z7A6
    • Q96D84

    Protein attributes for LRPPRC Gene

    Size:
    1394 amino acids
    Molecular mass:
    157905 Da
    Quaternary structure:
    • Interacts with CECR2, HEBP2, MAP1S and UXT. Interacts with PPARGC1A. Interacts with FOXO1 (By similarity). Component of mRNP complexes associated with HNRPA1.
    SequenceCaution:
    • Sequence=AAA67549.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAA67549.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for LRPPRC Gene

Post-translational modifications for LRPPRC Gene

  • Ubiquitination at Lys 453, Lys 617, Lys 649, Lys 980, Lys 1098, and Lys 1350
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LRPPRC Gene

Domains & Families for LRPPRC Gene

Protein Domains for LRPPRC Gene

Suggested Antigen Peptide Sequences for LRPPRC Gene

Graphical View of Domain Structure for InterPro Entry

P42704

UniProtKB/Swiss-Prot:

LPPRC_HUMAN :
  • Contains 20 PPR (pentatricopeptide) repeats.
Similarity:
  • Contains 20 PPR (pentatricopeptide) repeats.
genes like me logo Genes that share domains with LRPPRC: view

No data available for Gene Families for LRPPRC Gene

Function for LRPPRC Gene

Molecular function for LRPPRC Gene

UniProtKB/Swiss-Prot Function:
May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA (By similarity).

Gene Ontology (GO) - Molecular Function for LRPPRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003697 single-stranded DNA binding IEA --
GO:0003723 RNA binding IEA,NAS 12832482
GO:0004519 endonuclease activity IBA --
GO:0005515 protein binding IPI 15907802
genes like me logo Genes that share ontologies with LRPPRC: view
genes like me logo Genes that share phenotypes with LRPPRC: view

Human Phenotype Ontology for LRPPRC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LRPPRC Gene

MGI Knock Outs for LRPPRC:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LRPPRC Gene

Localization for LRPPRC Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRPPRC Gene

Mitochondrion. Nucleus, nucleoplasm. Nucleus inner membrane. Nucleus outer membrane. Note=Seems to be predominantly mitochondrial.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRPPRC Gene COMPARTMENTS Subcellular localization image for LRPPRC gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for LRPPRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000794 condensed nuclear chromosome IDA 12762840
GO:0005634 nucleus IDA 12762840
GO:0005637 nuclear inner membrane IEA --
GO:0005640 nuclear outer membrane IEA --
GO:0005654 nucleoplasm IEA --
genes like me logo Genes that share ontologies with LRPPRC: view

Pathways & Interactions for LRPPRC Gene

genes like me logo Genes that share pathways with LRPPRC: view

Gene Ontology (GO) - Biological Process for LRPPRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000961 negative regulation of mitochondrial RNA catabolic process IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006810 transport IEA --
GO:0009451 RNA modification IBA --
genes like me logo Genes that share ontologies with LRPPRC: view

No data available for SIGNOR curated interactions for LRPPRC Gene

Transcripts for LRPPRC Gene

Unigene Clusters for LRPPRC Gene

Leucine-rich pentatricopeptide repeat containing:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRPPRC Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - -
SP12:
SP13:

ExUns: 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34 ^ 35a · 35b
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6: - - - -
SP7:
SP8: - -
SP9:
SP10: - - - -
SP11:
SP12:
SP13:

Relevant External Links for LRPPRC Gene

GeneLoc Exon Structure for
LRPPRC
ECgene alternative splicing isoforms for
LRPPRC

Expression for LRPPRC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRPPRC Gene

Protein differential expression in normal tissues from HIPED for LRPPRC Gene

This gene is overexpressed in Bone (39.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LRPPRC Gene



Protein tissue co-expression partners for LRPPRC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LRPPRC Gene:

LRPPRC

SOURCE GeneReport for Unigene cluster for LRPPRC Gene:

Hs.368084

mRNA Expression by UniProt/SwissProt for LRPPRC Gene:

P42704-LPPRC_HUMAN
Tissue specificity: Expressed ubiquitously. Expression is highest in heart, skeletal muscle, kidney and liver, intermediate in brain, non-mucosal colon, spleen and placenta, and lowest in small intestine, thymus, lung and peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with LRPPRC: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LRPPRC Gene

Orthologs for LRPPRC Gene

This gene was present in the common ancestor of animals.

Orthologs for LRPPRC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRPPRC 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia LRPPRC 34 35
  • 86.48 (n)
cow
(Bos Taurus)
Mammalia LRPPRC 34 35
  • 85.88 (n)
rat
(Rattus norvegicus)
Mammalia Lrpprc 34
  • 80.22 (n)
mouse
(Mus musculus)
Mammalia Lrpprc 34 16 35
  • 79.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LRPPRC 35
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRPPRC 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRPPRC 34 35
  • 66.37 (n)
lizard
(Anolis carolinensis)
Reptilia LRPPRC 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrpprc 34
  • 65.08 (n)
Str.201 34
zebrafish
(Danio rerio)
Actinopterygii lrpprc 34 35
  • 55.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta bsf 36 34 35
  • 46.27 (n)
CG14786 35
  • 21 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008770 34
  • 41.7 (n)
worm
(Caenorhabditis elegans)
Secernentea C04E6.11 35
  • 18 (a)
OneToOne
Species where no ortholog for LRPPRC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LRPPRC Gene

ENSEMBL:
Gene Tree for LRPPRC (if available)
TreeFam:
Gene Tree for LRPPRC (if available)

Paralogs for LRPPRC Gene

Pseudogenes.org Pseudogenes for LRPPRC Gene

genes like me logo Genes that share paralogs with LRPPRC: view

No data available for Paralogs for LRPPRC Gene

Variants for LRPPRC Gene

Sequence variations from dbSNP and Humsavar for LRPPRC Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs119466000 Leigh syndrome French-Canadian type (LSFC) [MIM:220111], Pathogenic 43,974,244(-) TGTAG(C/T)GTTGC nc-transcript-variant, reference, missense
rs769022521 Pathogenic 43,918,025(+) TTGCC(-/T)TTTTT nc-transcript-variant, reference, frameshift-variant, splice-donor-variant
rs863224052 Pathogenic 43,894,567(-) GCATA(A/C)AATTC nc-transcript-variant, reference, stop-gained
rs863224053 Pathogenic 43,975,089(-) GCAGG(C/T)ATGAC splice-donor-variant
rs863224055 Pathogenic 43,948,121(-) TTAAG(G/T)TGTGT splice-donor-variant

Structural Variations from Database of Genomic Variants (DGV) for LRPPRC Gene

Variant ID Type Subtype PubMed ID
nsv1007740 CNV gain 25217958
nsv1008510 CNV gain 25217958
nsv1012126 CNV gain 25217958
nsv1012872 CNV loss 25217958
nsv457174 CNV gain 19166990
nsv581661 CNV gain 21841781
nsv581669 CNV loss 21841781

Variation tolerance for LRPPRC Gene

Residual Variation Intolerance Score: 2.06% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.30; 62.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRPPRC Gene

Human Gene Mutation Database (HGMD)
LRPPRC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRPPRC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRPPRC Gene

Disorders for LRPPRC Gene

MalaCards: The human disease database

(5) MalaCards diseases for LRPPRC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome, french-canadian type
  • leigh syndrome, french canadian type
nuclear gene-encoded leigh syndrome
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
mitochondrial metabolism disease
  • mitochondrial diseases
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LPPRC_HUMAN
  • Leigh syndrome French-Canadian type (LSFC) [MIM:220111]: Severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. In the Saguenay-Lac Saint Jean region of Quebec province in Canada, a biochemically distinct form of Leigh syndrome with COX deficiency has been described. Patients have been observed to have a developmental delay, hypotonia, mild facial dysmorphism, chronic well-compensated metabolic acidosis, and high mortality due to episodes of severe acidosis and coma. Enzyme activity was close to normal in kidney and heart, 50% of normal in fibroblasts and skeletal muscle, and nearly absent in brain and liver. LSFC patients show reduced (<30%) levels of LRPPRC in both fibroblast and liver mitochondria and a specifically reduced translation of COX subunits MT-CO1/COXI and MT-CO3 (COXIII). {ECO:0000269 PubMed:12529507, ECO:0000269 PubMed:26510951}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LRPPRC

Genetic Association Database (GAD)
LRPPRC
Human Genome Epidemiology (HuGE) Navigator
LRPPRC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRPPRC
genes like me logo Genes that share disorders with LRPPRC: view

No data available for Genatlas for LRPPRC Gene

Publications for LRPPRC Gene

  1. Molecular cloning and expression of the gene for a major leucine-rich protein from human hepatoblastoma cells (HepG2). (PMID: 8012652) Hou J. … McKeehan W.L. (In Vitro Cell. Dev. Biol. Anim. 1994) 2 3 4 22 64
  2. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. (PMID: 12529507) Mootha V.K. … Lander E.S. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 22 64
  3. LRP130, a pentatricopeptide motif protein with a noncanonical RNA- binding domain, is bound in vivo to mitochondrial and nuclear RNAs. (PMID: 12832482) Mili S. … Pinol-Roma S. (Mol. Cell. Biol. 2003) 3 4 22 64
  4. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. (PMID: 26510951) Olahova M. … Taylor R.W. (Brain 2015) 3 4 64
  5. LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs. (PMID: 22045337) Ruzzenente B. … Larsson N.G. (EMBO J. 2012) 2 3 64

Products for LRPPRC Gene

Sources for LRPPRC Gene

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