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词条 LRPPRC
释义

  1. Function

  2. Clinical significance

  3. References

  4. Further reading

  5. External links

{{Infobox_gene}}Leucine-rich PPR motif-containing protein, mitochondrial is a protein that in humans is encoded by the LRPPRC gene.[1][1][2][3] Transcripts ranging in size from 4.8 to 7.0 kb which result from alternative polyadenylation have been reported for this gene.[3]

Function

This gene encodes a protein that is leucine-rich and is thought to play a role in regulating the interaction of the cytoskeleton with a variety of cellular processes.[4]

Clinical significance

An integrative genomics strategy led to the discovery that mutations in LRPPRC cause the French-Canadian variant of Leigh syndrome.[5] Furthermore, mutation in the LRPPRC gene causes lowered expression of MT-CO1 (cytochrome c oxidase I) and MT-CO3.[6]

References

1. ^1 {{cite journal |vauthors=Hou J, Wang F, McKeehan WL | title = Molecular cloning and expression of the gene for a major leucine-rich protein from human hepatoblastoma cells (HepG2) | journal = In Vitro Cell Dev Biol Anim | volume = 30A | issue = 2 | pages = 111–4 |date=Jul 1994 | pmid = 8012652 | pmc = | doi = 10.1007/BF02631402}}
2. ^{{cite journal |vauthors=Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA | title = A "double adaptor" method for improved shotgun library construction | journal = Anal Biochem | volume = 236 | issue = 1 | pages = 107–13 |date=Jun 1996 | pmid = 8619474 | pmc = | doi = 10.1006/abio.1996.0138 }}
3. ^1 {{Cite web| title = Entrez Gene: LRPPRC leucine-rich PPR-motif containing| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10128| accessdate = }}
4. ^{{cite journal |vauthors=Liu L, McKeehan WL | title = Sequence Analysis of LRPPRC and Its SEC1 Domain Interaction Partners Suggests Roles in Cytoskeletal Organization, Vesicular Trafficking, Nucleocytosolic Shuttling and Chromosome Activity | journal = Genomics | volume = 79 | issue = 1 | pages = 124–36 |date=January 2002 | pmid = 11827465 | doi = 10.1006/geno.2001.6679 | url = | pmc = 3241999 }}
5. ^{{cite journal |vauthors=Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES | title = Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 100 | issue = 2 | pages = 605–10 |date=January 2003 | pmid = 12529507 | pmc = 141043 | doi = 10.1073/pnas.242716699 | url = }}
6. ^{{cite journal |vauthors=Xu F, Morin C, Mitchell G, Ackerley C, Robinson BH | title = 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 | journal = Biochem. J. | volume = 382 | issue = Pt 1 | pages = 331–6 |date=August 2004 | pmid = 15139850 | pmc = 1133946 | doi = 10.1042/BJ20040469 | url = }}

Further reading

{{Refbegin| 2}}
  • {{Cite journal |vauthors=Yu W, Andersson B, Worley KC, etal |title=Large-Scale Concatenation cDNA Sequencing |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi= 10.1101/gr.7.4.353| pmc=139146 }}
  • {{Cite journal |vauthors=Kuroda H, Sugimoto T, Horii Y, Sawada T |title=Signaling pathway of ciliary neurotrophic factor in neuroblastoma cell lines |journal=Med. Pediatr. Oncol. |volume=36 |issue= 1 |pages= 118–21 |year= 2001 |pmid= 11464862 |doi= 10.1002/1096-911X(20010101)36:1<118::AID-MPO1028>3.0.CO;2-R }}
  • {{Cite journal |vauthors=Liu L, McKeehan WL |title=Sequence Analysis of LRPPRC and Its SEC1 Domain Interaction Partners Suggests Roles in Cytoskeletal Organization, Vesicular Trafficking, Nucleocytosolic Shuttling and Chromosome Activity |journal=Genomics |volume=79 |issue= 1 |pages= 124–36 |year= 2002 |pmid= 11827465 |doi= 10.1006/geno.2001.6679 | pmc=3241999 }}
  • {{Cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
  • {{Cite journal |vauthors=Mootha VK, Lepage P, Miller K, etal |title=Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 2 |pages= 605–10 |year= 2003 |pmid= 12529507 |doi= 10.1073/pnas.242716699 | pmc=141043 }}
  • {{Cite journal |vauthors=Liu L, Amy V, Liu G, McKeehan WL |title=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 |journal=In Vitro Cell. Dev. Biol. Anim. |volume=38 |issue= 10 |pages= 582–94 |year= 2003 |pmid= 12762840 |doi=10.1290/1543-706X(2002)38<582:NCIMAT>2.0.CO;2 | pmc=3225227 }}
  • {{Cite journal |vauthors=Mili S, Piñol-Roma S |title=LRP130, a Pentatricopeptide Motif Protein with a Noncanonical RNA-Binding Domain, Is Bound In Vivo to Mitochondrial and Nuclear RNAs |journal=Mol. Cell. Biol. |volume=23 |issue= 14 |pages= 4972–82 |year= 2003 |pmid= 12832482 |doi=10.1128/MCB.23.14.4972-4982.2003 | pmc=162214 }}
  • {{Cite journal |vauthors=Bouwmeester T, Bauch A, Ruffner H, etal |title=A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway |journal=Nat. Cell Biol. |volume=6 |issue= 2 |pages= 97–105 |year= 2004 |pmid= 14743216 |doi= 10.1038/ncb1086 }}
  • {{Cite journal |vauthors=Labialle S, Dayan G, Gayet L, etal |title=New invMED1 element cis-activates human multidrug-related MDR1 and MVP genes, involving the LRP130 protein |journal=Nucleic Acids Res. |volume=32 |issue= 13 |pages= 3864–76 |year= 2004 |pmid= 15272088 |doi= 10.1093/nar/gkh722 | pmc=506807 }}
  • {{Cite journal |vauthors=Liu L, Vo A, Liu G, McKeehan WL |title=Putative tumor suppressor RASSF1 interactive protein and cell death inducer C19ORF5 is a DNA binding protein |journal=Biochem. Biophys. Res. Commun. |volume=332 |issue= 3 |pages= 670–6 |year= 2005 |pmid= 15907802 |doi= 10.1016/j.bbrc.2005.05.006 | pmc=3225229 }}
  • {{Cite journal |vauthors=Cooper MP, Qu L, Rohas LM, etal |title=Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1α/LRP130 complex |journal=Genes Dev. |volume=20 |issue= 21 |pages= 2996–3009 |year= 2006 |pmid= 17050673 |doi= 10.1101/gad.1483906 | pmc=1620022 }}
  • {{Cite journal |vauthors=Ewing RM, Chu P, Elisma F, etal |title=Large-scale mapping of human protein–protein interactions by mass spectrometry |journal=Mol. Syst. Biol. |volume=3 |issue= 1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948 }}
{{Refend}}

External links

  • {{UCSC genome browser|LRPPRC}}
  • {{UCSC gene details|LRPPRC}}
{{NLM content}}{{Gene-2-stub}}
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