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Aliases for LRPPRC Gene

Aliases for LRPPRC Gene

  • Leucine-Rich Pentatricopeptide Repeat Containing 2 3
  • LRP130 3 4 6
  • 130 KDa Leucine-Rich Protein 3 4
  • LRP 130 3 4
  • GP130 3 4
  • LSFC 3 6
  • 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

External Ids for LRPPRC Gene

Previous Symbols for LRPPRC Gene

  • LSFC

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 leigh syndrome. Among its related pathways are TNF-alpha/NF-kB Signaling Pathway. GO annotations related to this gene include RNA binding and actin filament 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

Genomic Location for LRPPRC Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRPPRC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRPPRC Gene

Regulatory Elements 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

Proteomics data for LRPPRC Gene at MOPED

Post-translational modifications for LRPPRC Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys155, Lys453, Lys613, Lys617, Lys649, Lys980, Lys1098, and Lys1350

Other Protein References for LRPPRC Gene

No data available for DME Specific Peptides for LRPPRC Gene

Domains for LRPPRC Gene

Protein Domains for LRPPRC Gene

UniProtKB/Swiss-Prot:

LPPRC_HUMAN
Similarity:
  • Contains 20 PPR (pentatricopeptide) repeats.:
    • P42704
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:0003697 single-stranded DNA binding IEA --
GO:0003723 RNA binding NAS 12832482
GO:0005515 protein binding IPI 15907802
GO:0008017 microtubule binding TAS 12762840
GO:0031625 ubiquitin protein ligase binding IPI 19725078
genes like me logo Genes that share ontologies with LRPPRC: view
genes like me logo Genes that share phenotypes with LRPPRC: view

Animal Models for LRPPRC Gene

MGI Knock Outs for LRPPRC:

miRNA for LRPPRC Gene

miRTarBase miRNAs that target LRPPRC

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 for LRPPRC Gene

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

Pathways by source for LRPPRC Gene

1 BioSystems pathway for LRPPRC Gene

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:0047497 mitochondrion transport along microtubule TAS 12762840
GO:0051028 mRNA transport IEA --
genes like me logo Genes that share ontologies with LRPPRC: view

Transcripts for LRPPRC Gene

Unigene Clusters for LRPPRC Gene

Leucine-rich pentatricopeptide repeat containing:
Representative Sequences:

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 for LRPPRC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LRPPRC Gene

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 expressions with LRPPRC: view

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 36
  • 99.5 (n)
  • 99.5 (a)
LRPPRC 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRPPRC 36
  • 85.88 (n)
  • 80.79 (a)
LRPPRC 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRPPRC 36
  • 86.48 (n)
  • 79.87 (a)
LRPPRC 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrpprc 36
  • 79.57 (n)
  • 75.36 (a)
Lrpprc 16
Lrpprc 37
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRPPRC 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRPPRC 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrpprc 36
  • 80.22 (n)
  • 76.42 (a)
chicken
(Gallus gallus)
Aves LRPPRC 36
  • 66.37 (n)
  • 58.39 (a)
LRPPRC 37
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRPPRC 37
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrpprc 36
  • 65.08 (n)
  • 61.43 (a)
Str.201 36
zebrafish
(Danio rerio)
Actinopterygii lrpprc 36
  • 55.72 (n)
  • 51.08 (a)
lrpprc 37
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008770 36
  • 41.7 (n)
  • 30.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta bsf 36
  • 46.27 (n)
  • 36.17 (a)
bsf 37
  • 27 (a)
OneToMany
CG14786 37
  • 21 (a)
OneToMany
bsf 38
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea C04E6.11 37
  • 18 (a)
OneToOne
Species with no ortholog for LRPPRC:
  • 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 MAF
rs8057 -- 43,886,447(+) GAACA(C/T)TCATA utr-variant-3-prime
rs1134649 -- 43,931,461(-) CTCTC(A/G)GAACT intron-variant
rs1136998 -- 43,888,044(-) TGGTC(A/T)GGGGA utr-variant-3-prime
rs1139249 -- 43,886,948(-) ggtct(C/T)gaact utr-variant-3-prime
rs1139250 -- 43,886,935(-) TGGCC(C/T)CAAGT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv457174 CNV Gain 19166990

Relevant External Links for LRPPRC Gene

HapMap Linkage Disequilibrium report
LRPPRC
Human Gene Mutation Database (HGMD)
LRPPRC

Disorders for LRPPRC Gene

(1) OMIM Diseases for LRPPRC Gene (607544)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for LRPPRC Gene

(2) Novoseek inferred disease relationships for LRPPRC Gene

Disease -log(P) Hits PubMed IDs
cytochrome c oxidase deficiency 90.9 2
leigh syndrome 82.6 2

Relevant External Links for LRPPRC

Genetic Association Database (GAD)
LRPPRC
Human Genome Epidemiology (HuGE) Navigator
LRPPRC
genes like me logo Genes that share disorders with LRPPRC: view

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 23
  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 23
  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 23
  4. The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA. (PMID: 15139850) Xu F. … Robinson B.H. (Biochem. J. 2004) 4 23
  5. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3

Products for LRPPRC Gene

Sources for LRPPRC Gene

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