ELAC2
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Template:Short description An Error has occurred retrieving Wikidata item for infobox Zinc phosphodiesterase ELAC protein 2 is an enzyme that in humans is encoded by the ELAC2 gene.[1][2][3] on chromosome 17. It is an endonuclease thought to be involved in mitochondrial tRNA maturation,
Function
The ELAC2 gene encodes a protein that is 92 kDa in size and is localized to the mitochondrion[4] and the nucleus. The ELAC2 protein is a zinc phosphodiesterase, which is known to show tRNA 3'-processing endonuclease activity inside the mitochondria. Mitochondria contain their own pool of tRNAs that are involved in the protein translation of 13 subunits of the respiratory chain that are encoded by the mitochondrial genome. ELAC2 functions in the maturation of tRNA by removing a 3'-trailer (extra 3' nucleotides) from tRNA precursors, generating 3' termini of tRNAs.
The reaction leaves a 3'-hydroxy group is left at the tRNA end, and a 5'-phosphoryl group at the cleaved, trailing end. The reaction requires zinc ions as co-factors.
Clinical significance
Variants of the ELAC2 gene are associated with prostate cancer, hereditary 2 (HPC2), a condition associated with familial cancer of the prostate.[5][6] Multiple mutations including truncation and missense mutations are known to cause the disease from multiple families based on linkage analysis and positional cloning.[6]
In addition, mutations in ELAC2 are known to cause combined oxidative phosphorylation deficiency 17 (COXPD17), a rare autosomal recessive disorder of mitochondrial functions characterized by severe hypertrophic cardiomyopathy.[7]
References
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- ^ Page Module:Citation/CS1/styles.css has no content.Rebbeck TR, Walker AH, Zeigler-Johnson C, Weisburg S, Martin AM, Nathanson KL, Wein AJ, Malkowicz SB (Oct 2000). "Association of HPC2/ELAC2 Genotypes and Prostate Cancer". Am J Hum Genet. 67 (4): 1014–9. doi:10.1086/303096. PMC 1287872. PMID 10986046.
- ^ Page Module:Citation/CS1/styles.css has no content.Noda D, Itoh S, Watanabe Y, Inamitsu M, Dennler S, Itoh F, Koike S, Danielpour D, ten Dijke P, Kato M (September 2006). "ELAC2, a putative prostate cancer susceptibility gene product, potentiates TGF-beta/Smad-induced growth arrest of prostate cells". Oncogene. 25 (41): 5591–600. doi:10.1038/sj.onc.1209571. PMID 16636667. S2CID 23413428.
- ^ Page Module:Citation/CS1/styles.css has no content."Entrez Gene: ELAC2 elaC homolog 2 (E. coli)".
- ^ Page Module:Citation/CS1/styles.css has no content.Brzezniak LK, Bijata M, Szczesny RJ, Stepien PP (2011). "Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs". RNA Biol. 8 (4): 616–26. doi:10.4161/rna.8.4.15393. PMID 21593607.
- ^ Page Module:Citation/CS1/styles.css has no content.Wang L, McDonnell SK, Elkins DA, Slager SL, Christensen E, Marks AF, Cunningham JM, Peterson BJ, Jacobsen SJ, Cerhan JR, Blute ML, Schaid DJ, Thibodeau SN (2001). "Role of HPC2/ELAC2 in hereditary prostate cancer". Cancer Res. 61 (17): 6494–9. PMID 11522646.
- ^ a b Page Module:Citation/CS1/styles.css has no content.Rökman A, Ikonen T, Mononen N, Autio V, Matikainen MP, Koivisto PA, Tammela TL, Kallioniemi OP, Schleutker J (2001). "ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer". Cancer Res. 61 (16): 6038–41. PMID 11507049.
- ^ Page Module:Citation/CS1/styles.css has no content.Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H (2013). "ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy". Am. J. Hum. Genet. 93 (2): 211–23. doi:10.1016/j.ajhg.2013.06.006. PMC 3738821. PMID 23849775.
Further reading
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- Page Module:Citation/CS1/styles.css has no content.Satijn DP, Gunster MJ, van der Vlag J, et al. (1997). "RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor". Mol. Cell. Biol. 17 (7): 4105–13. doi:10.1128/mcb.17.7.4105. PMC 232264. PMID 9199346.
- Page Module:Citation/CS1/styles.css has no content.Sewalt RG, Gunster MJ, van der Vlag J, et al. (1999). "C-Terminal Binding Protein Is a Transcriptional Repressor That Interacts with a Specific Class of Vertebrate Polycomb Proteins". Mol. Cell. Biol. 19 (1): 777–87. doi:10.1128/MCB.19.1.777. PMC 83934. PMID 9858600.
- Page Module:Citation/CS1/styles.css has no content.Tavtigian SV, Simard J, Teng DH, et al. (2001). "A candidate prostate cancer susceptibility gene at chromosome 17p". Nat. Genet. 27 (2): 172–80. doi:10.1038/84808. PMID 11175785. S2CID 7889550.
- Page Module:Citation/CS1/styles.css has no content.Xu J, Zheng SL, Carpten JD, et al. (2001). "Evaluation of Linkage and Association of HPC2/ELAC2 in Patients with Familial or Sporadic Prostate Cancer". Am. J. Hum. Genet. 68 (4): 901–11. doi:10.1086/319513. PMC 1275644. PMID 11254448.
- Page Module:Citation/CS1/styles.css has no content.Rökman A, Ikonen T, Mononen N, et al. (2001). "ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer". Cancer Res. 61 (16): 6038–41. PMID 11507049.
- Page Module:Citation/CS1/styles.css has no content.Wang L, McDonnell SK, Elkins DA, et al. (2001). "Role of HPC2/ELAC2 in hereditary prostate cancer". Cancer Res. 61 (17): 6494–9. PMID 11522646.
- Page Module:Citation/CS1/styles.css has no content.Shea PR, Ferrell RE, Patrick AL, et al. (2002). "ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago". Hum. Genet. 111 (4–5): 398–400. doi:10.1007/s00439-002-0816-1. PMID 12384782. S2CID 12467388.
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- Page Module:Citation/CS1/styles.css has no content.Camp NJ, Tavtigian SV (2003). "Meta-Analysis of Associations of the Ser217Leu and Ala541Thr Variants in ELAC2 (HPC2) and Prostate Cancer". Am. J. Hum. Genet. 71 (6): 1475–8. doi:10.1086/344516. PMC 378598. PMID 12515253.
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- Page Module:Citation/CS1/styles.css has no content.Korver W, Guevara C, Chen Y, et al. (2003). "The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex". Int. J. Cancer. 104 (3): 283–8. doi:10.1002/ijc.10945. PMID 12569551. S2CID 19516443.
- Page Module:Citation/CS1/styles.css has no content.Shi Y, Sawada J, Sui G, et al. (2003). "Coordinated histone modifications mediated by a CtBP co-repressor complex". Nature. 422 (6933): 735–8. Bibcode:2003Natur.422..735S. doi:10.1038/nature01550. PMID 12700765. S2CID 2670859.
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