LRPPRC

LRPPRC
Identifiers
Aliases	LRPPRC , CLONE-23970, GP130, LRP130, LSFC, leucine rich pentatricopeptide repeat containing, MC4DN5
External IDs	OMIM: 607544 MGI: 1919666 HomoloGene: 32695 GeneCards: LRPPRC
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p21 Start 43,886,224 bp [1] End 43,996,226 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17|17 E4 Start 85,012,675 bp [2] End 85,098,217 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in biceps brachii body of tongue kidney tubule jejunum right ventricle Achilles tendon gastrocnemius muscle middle temporal gyrus vastus lateralis muscle superior surface of tongue Top expressed in interventricular septum plantaris muscle extensor digitorum longus muscle extraocular muscle right ventricle soleus muscle thoracic diaphragm digastric muscle medulla oblongata medial vestibular nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding single-stranded DNA binding microtubule binding ubiquitin protein ligase binding beta-tubulin binding actin filament binding DNA binding endonuclease activity RNA binding Cellular component condensed nuclear chromosome nuclear inner membrane mitochondrial nucleoid perinuclear region of cytoplasm cytoplasm cytoskeleton nucleoplasm microtubule nuclear outer membrane membrane mitochondrion nucleus ribonucleoprotein complex Biological process regulation of transcription, DNA-templated mRNA transport mitochondrion transport along microtubule transcription, DNA-templated negative regulation of mitochondrial RNA catabolic process regulation of mitochondrial translation RNA modification nucleic acid phosphodiester bond hydrolysis transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10128 72416 Ensembl ENSG00000138095 ENSMUSG00000024120 UniProt P42704 Q6PB66 RefSeq (mRNA) NM_133259 NM_028233 RefSeq (protein) NP_573566 NP_082509 Location (UCSC) Chr 2: 43.89 – 44 Mb Chr 17: 85.01 – 85.1 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Leucine-rich PPR motif-containing protein, mitochondrial is a protein that in humans is encoded by the LRPPRC gene. ^{[5] [6] [7]} Transcripts ranging in size from 4.8 to 7.0 kb which result from alternative polyadenylation have been reported for this gene. ^[7]

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. ^[8]

Clinical significance

An integrative genomics strategy led to the discovery that mutations in LRPPRC cause the French-Canadian variant of Leigh syndrome. ^[9] Furthermore, mutation in the LRPPRC gene causes lowered expression of MT-CO1 (cytochrome c oxidase I) and MT-CO3. ^[10]

References

1. GRCh38: Ensembl release 89: ENSG00000138095 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024120 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Hou J, Wang F, McKeehan WL (Jul 1994). "Molecular cloning and expression of the gene for a major leucine-rich protein from human hepatoblastoma cells (HepG2)". In Vitro Cell Dev Biol Anim. 30A (2): 111–4. doi:10.1007/BF02631402. PMID   8012652. S2CID   24824618.
6. Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (Jun 1996). "A "double adaptor" method for improved shotgun library construction". Anal Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID   8619474.
7. "Entrez Gene: LRPPRC leucine-rich PPR-motif containing".
8. Liu L, McKeehan WL (January 2002). "Sequence Analysis of LRPPRC and Its SEC1 Domain Interaction Partners Suggests Roles in Cytoskeletal Organization, Vesicular Trafficking, Nucleocytosolic Shuttling and Chromosome Activity". Genomics. 79 (1): 124–36. doi:10.1006/geno.2001.6679. PMC   3241999 . PMID   11827465.
9. 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 (January 2003). "Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics". Proc. Natl. Acad. Sci. U.S.A. 100 (2): 605–10. doi: 10.1073/pnas.242716699 . PMC   141043 . PMID   12529507.
10. Xu F, Morin C, Mitchell G, Ackerley C, Robinson BH (August 2004). "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". Biochem. J. 382 (Pt 1): 331–6. doi:10.1042/BJ20040469. PMC   1133946 . PMID   15139850.

Further reading

• Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC   139146 . PMID   9110174.
• Kuroda H, Sugimoto T, Horii Y, Sawada T (2001). "Signaling pathway of ciliary neurotrophic factor in neuroblastoma cell lines". Med. Pediatr. Oncol. 36 (1): 118–21. doi:10.1002/1096-911X(20010101)36:1<118::AID-MPO1028>3.0.CO;2-R. PMID   11464862.
• Liu L, McKeehan WL (2002). "Sequence Analysis of LRPPRC and Its SEC1 Domain Interaction Partners Suggests Roles in Cytoskeletal Organization, Vesicular Trafficking, Nucleocytosolic Shuttling and Chromosome Activity". Genomics. 79 (1): 124–36. doi:10.1006/geno.2001.6679. PMC   3241999 . PMID   11827465.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Mootha VK, Lepage P, Miller K, et al. (2003). "Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics". Proc. Natl. Acad. Sci. U.S.A. 100 (2): 605–10. doi: 10.1073/pnas.242716699 . PMC   141043 . PMID   12529507.
• Liu L, Amy V, Liu G, McKeehan WL (2003). "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". In Vitro Cell. Dev. Biol. Anim. 38 (10): 582–94. doi:10.1290/1543-706X(2002)38<582:NCIMAT>2.0.CO;2. PMC   3225227 . PMID   12762840.
• Mili S, Piñol-Roma S (2003). "LRP130, a Pentatricopeptide Motif Protein with a Noncanonical RNA-Binding Domain, Is Bound In Vivo to Mitochondrial and Nuclear RNAs". Mol. Cell. Biol. 23 (14): 4972–82. doi:10.1128/MCB.23.14.4972-4982.2003. PMC   162214 . PMID   12832482.
• Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol. 6 (2): 97–105. doi:10.1038/ncb1086. PMID   14743216. S2CID   11683986.
• Labialle S, Dayan G, Gayet L, et al. (2004). "New invMED1 element cis-activates human multidrug-related MDR1 and MVP genes, involving the LRP130 protein". Nucleic Acids Res. 32 (13): 3864–76. doi:10.1093/nar/gkh722. PMC   506807 . PMID   15272088.
• Liu L, Vo A, Liu G, McKeehan WL (2005). "Putative tumor suppressor RASSF1 interactive protein and cell death inducer C19ORF5 is a DNA binding protein". Biochem. Biophys. Res. Commun. 332 (3): 670–6. doi:10.1016/j.bbrc.2005.05.006. PMC   3225229 . PMID   15907802.
• Cooper MP, Qu L, Rohas LM, et al. (2006). "Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1α/LRP130 complex". Genes Dev. 20 (21): 2996–3009. doi:10.1101/gad.1483906. PMC   1620022 . PMID   17050673.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.

External links

• LRPPRC human gene location in the UCSC Genome Browser .
• LRPPRC human gene details in the UCSC Genome Browser .

This article incorporates text from the United States National Library of Medicine, which is in the public domain.