Alternative titles; symbols
HGNC Approved Gene Symbol: ELAC1
Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38) : 18:50,968,040-50,988,121 (from NCBI)
ELAC1 encodes the short form of ribonuclease (RNase) Z (EC 3.1.26.11) and is predicted to have a role in tRNA processing (Rossmanith, 2011).
By sequencing a region of chromosome 18 that is deleted in the Ma29 lung cancer cell line, followed by screening a HeLa cell cDNA library, Yanaihara et al. (2001) cloned ELAC1, which they called D29. The deduced protein contains 363 amino acids. The D29 transcript contains 2 polyadenylation sequences. Yanaihara et al. (2001) also identified an 88-amino acid variant of D29 that is translated from a different reading frame. Northern blot analysis detected a major transcript of 1.6 kb and minor transcripts of 1.2, 2.0, and 2.5 kb in most tissues examined. Transcripts of 4.0, 5.5, and 7.0 kb were also detected in pancreas. RT-PCR detected expression in all tissues examined.
Using PCR, Rossmanith (2011) cloned RNase ZS from HeLa cells. Fluorescence-tagged RNase ZS localized to the cytosol of transfected HEK293 cells and 143B osteosarcoma cells. In contrast, fluorescence-tagged RNase ZL (ELAC2; 605367) localized to both mitochondria and nucleus, but not cytosol.
Independently, Brzezniak et al. (2011) found that epitope-tagged ELAC1 localized to cytosol in transfected human cell lines.
Yanaihara et al. (2001) determined that the D29 gene contains 4 exons.
By genomic sequence analysis, Yanaihara et al. (2001) mapped the D29 gene to chromosome 18q21.
Brzezniak, L. K., Bijata, M., Szczesny, R. J., Stepien, P. P. Involvement of human ELAC2 gene product in 3-prime end processing of mitochondrial tRNAs. RNA Biol. 8: 616-626, 2011. [PubMed: 21593607] [Full Text: https://doi.org/10.4161/rna.8.4.15393]
Rossmanith, W. Localization of human RNase Z isoforms: dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation. PLoS ONE 6: e19152, 2011. Note: Electronic Article. [PubMed: 21559454] [Full Text: https://doi.org/10.1371/journal.pone.0019152]
Yanaihara, N., Kohno, T., Takakura, S., Takei, K., Otsuka, A., Sunaga, N., Takahashi, M., Yamazaki, M., Tashiro, H., Fukuzumi, Y., Fujimori, Y., Hagiwara, K., Tanaka, T., Yokota, J. Physical and transcriptional map of a 311-kb segment of chromosome 18q21, a candidate lung tumor suppressor locus. Genomics 72: 169-179, 2001. [PubMed: 11401430] [Full Text: https://doi.org/10.1006/geno.2000.6454]