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Gene Review

LRPPRC  -  leucine-rich pentatricopeptide repeat...

Homo sapiens

Synonyms: 130 kDa leucine-rich protein, CLONE-23970, GP130, LRP 130, LRP130, ...
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Disease relevance of LRPPRC


High impact information on LRPPRC

  • Resequencing identified two mutations on two independent haplotypes, providing definitive genetic proof that LRPPRC indeed causes LSFC [2].
  • Patients with LSFC show a phenotype similar to that of patients with LS, but the two groups differ in clinical presentation [4].
  • Because of founder effects in the SLSJ region, considerable linkage disequilibrium (LD) was expected to surround the LSFC mutation [4].
  • The majority of LRP130 proteins are located within mitochondria, where they are directly bound to polyadenylated RNAs in vivo [5].
  • LRP130, a pentatricopeptide motif protein with a noncanonical RNA-binding domain, is bound in vivo to mitochondrial and nuclear RNAs [5].

Biological context of LRPPRC

  • Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity [6].
  • We found that 23 copies of tandem repeats that are similar to pentatricopeptide, tetratricopeptide, and huntingtin-elongation A subunit-TOR repeats characterize the LRPPRC sequence [6].
  • Here we report results of a sequence homology analysis of LRPPRC and its SEC1 domain interactive partners [6].
  • Together these features suggest a regulatory role of LRPPRC and its SEC1 domain-interactive partners in integration of cytoskeletal networks with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling, and cytokinesis [6].
  • Here, we show that the C-terminus of C19ORF5 (C19ORF5C) interacts with mitochondria-associated DNA binding protein, LRPPRC, in liver cells [7].

Anatomical context of LRPPRC


Associations of LRPPRC with chemical compounds


Other interactions of LRPPRC

  • In addition, since the invMED1 sequence is primarily located in the -160/-100 bp region of mammalian MDR-related genes, our results present the invMED1/LRP130 couple as a potential central regulator of the transcription of these genes [10].
  • Sequencing and BLAST database screening confirmed the location of one gene (UCHL1) and allowed the assignment of two other previously identified genes (LRP130 and cDNA IB871.)[11]
  • These include the alternatively spliced isoforms D01 and D02 of the hnRNP D proteins, the E0 isoform of the hnRNP E proteins, and LRP130, a previously reported protein with unknown function that appears to have a novel type of RNA-binding domain [12].

Analytical, diagnostic and therapeutic context of LRPPRC

  • Like LRPPRC, C19ORF5 also binds DNA with an affinity and specificity sufficient to be of utility in DNA affinity chromatography to purify homogeneous recombinant C19ORF5C from bacterial extracts [7].
  • Northern blots showed that the LRPPRC mRNA levels seen in skeletal muscle>heart>placenta>kidney>liver>lung=brain were proportionally almost opposite in strength to the severity of the enzymic cytochrome oxidase defect [1].


  1. 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. Xu, F., Morin, C., Mitchell, G., Ackerley, C., Robinson, B.H. Biochem. J. (2004) [Pubmed]
  2. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Mootha, V.K., Lepage, P., Miller, K., Bunkenborg, J., Reich, M., Hjerrild, M., Delmonte, T., Villeneuve, A., Sladek, R., Xu, F., Mitchell, G.A., Morin, C., Mann, M., Hudson, T.J., Robinson, B., Rioux, J.D., Lander, E.S. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  3. Molecular cloning and expression of the gene for a major leucine-rich protein from human hepatoblastoma cells (HepG2). Hou, J., Wang, F., McKeehan, W.L. In Vitro Cell. Dev. Biol. Anim. (1994) [Pubmed]
  4. A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. Lee, N., Daly, M.J., Delmonte, T., Lander, E.S., Xu, F., Hudson, T.J., Mitchell, G.A., Morin, C.C., Robinson, B.H., Rioux, J.D. Am. J. Hum. Genet. (2001) [Pubmed]
  5. LRP130, a pentatricopeptide motif protein with a noncanonical RNA-binding domain, is bound in vivo to mitochondrial and nuclear RNAs. Mili, S., Piñol-Roma, S. Mol. Cell. Biol. (2003) [Pubmed]
  6. Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity. Liu, L., McKeehan, W.L. Genomics (2002) [Pubmed]
  7. Putative tumor suppressor RASSF1 interactive protein and cell death inducer C19ORF5 is a DNA binding protein. Liu, L., Vo, A., Liu, G., McKeehan, W.L. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  8. Novel complex integrating mitochondria and the microtubular cytoskeleton with chromosome remodeling and tumor suppressor RASSF1 deduced by in silico homology analysis, interaction cloning in yeast, and colocalization in cultured cells. Liu, L., Amy, V., Liu, G., McKeehan, W.L. In Vitro Cell. Dev. Biol. Anim. (2002) [Pubmed]
  9. LRP130, a single-stranded DNA/RNA-binding protein, localizes at the outer nuclear and endoplasmic reticulum membrane, and interacts with mRNA in vivo. Tsuchiya, N., Fukuda, H., Nakashima, K., Nagao, M., Sugimura, T., Nakagama, H. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  10. New invMED1 element cis-activates human multidrug-related MDR1 and MVP genes, involving the LRP130 protein. Labialle, S., Dayan, G., Gayet, L., Rigal, D., Gambrelle, J., Baggetto, L.G. Nucleic Acids Res. (2004) [Pubmed]
  11. Chromosomal assignment of 20 cDNAs using flow-sorted spot-blot stamps. Ghiso, N.S., Eveleth, G.G., Lieuallen, K., Lennon, G.G. Genomics (1995) [Pubmed]
  12. Distinct RNP complexes of shuttling hnRNP proteins with pre-mRNA and mRNA: candidate intermediates in formation and export of mRNA. Mili, S., Shu, H.J., Zhao, Y., Piñol-Roma, S. Mol. Cell. Biol. (2001) [Pubmed]
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