ELAC2

ELAC2
Identifiers
AliasesELAC2, COXPD17, ELC2, HPC2, elaC ribonuclease Z 2
External IDsOMIM: 605367; MGI: 1890496; GeneCards: ELAC2
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
3.1.26.11↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

60528

68626

Ensembl

ENSG00000006744

ENSMUSG00000020549

UniProt

Q9BQ52

Q80Y81

RefSeq (mRNA)

NM_173717
NM_001165962
NM_018127

NM_023479
NM_001362982
NM_001362983
NM_001362984

RefSeq (protein)

NP_001159434
NP_060597
NP_776065

NP_075968
NP_001349911
NP_001349912
NP_001349913

Location (UCSC)Chr 17: 12.99 – 13.02 MbChr 11: 64.87 – 64.89 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Zinc phosphodiesterase ELAC protein 2 is an enzyme that in humans is encoded by the ELAC2 gene.[5][6][7] 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[8] 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.[9][10] Multiple mutations including truncation and missense mutations are known to cause the disease from multiple families based on linkage analysis and positional cloning.[10]

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.[11]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000006744 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020549 – 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. ^ 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.
  6. ^ 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.
  7. ^ "Entrez Gene: ELAC2 elaC homolog 2 (E. coli)".
  8. ^ 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.
  9. ^ 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.
  10. ^ a b 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.
  11. ^ 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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