Alternative titles; symbols
HGNC Approved Gene Symbol: CTSE
Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:206,009,264-206,023,895 (from NCBI)
Cathepsin E, an endolysosomal aspartic proteinase predominantly expressed in cells of the immune system, has an important role in immune responses (Yanagawa et al., 2007).
Taggart et al. (1989) used sets of complementary oligonucleotide probes specific for the highly conserved active site region of aspartic proteinases to isolate cDNA clones encoding novel enzymes of this class. They identified 6 classes of cDNA clones in a gastric adenocarcinoma cDNA library using a set of 18-mer probes. One of the cDNAs, designated AGS402, was shown by DNA analysis to correspond to the predicted coding sequence of cathepsin E. Couvreur et al. (1989, 1990) also isolated a full-length CTSE cDNA clone from a gastric adenocarcinoma cDNA library.
Azuma et al. (1989, 1989) reported the amino acid sequence of CTSE predicted on the basis of the cDNA sequence and compared the sequence with that of other aspartic proteinases. Azuma et al. (1992) demonstrated that multiple transcripts result from alternative polyadenylation of the primary transcripts of the single CTSE gene.
Azuma et al. (1992) determined that the CTSE gene contains 9 exons and spans 17.5 kb. The size and placement of the exons are highly conserved relative to other aspartic proteinases.
By somatic cell hybrid analysis, Taggart et al. (1989) mapped the CTSE gene to chromosome 1. Azuma et al. (1989, 1989) also assigned the CTSE gene to chromosome 1.
Couvreur et al. (1989, 1990) mapped the CTSE gene to chromosome 1q23-qter by analysis of human/rodent hybrid cell lines containing different X;1 translocations. CTSE was further localized to chromosome 1q31 by in situ hybridization.
Yanagawa et al. (2007) found that cathepsin E deficiency in mice resulted in a lysosome storage disorder in macrophages that was characterized by accumulation of major lysosomal membrane sialoglycoproteins, including Lamp1 (153330), Lamp2 (309060), and Limp2 (SCARB2; 602257), and elevated lysosomal pH. Trafficking of soluble lysosomal proteins to lysosomes was also partially impaired in Cate -/- macrophages. Treatment of wildtype macrophages with a cathepsin E inhibitor also led to accumulation of these lysosomal proteins and elevated pH. Since vacuolar-type H(+) ATPase (see 603097) activity was not altered in Cate -/- macrophages, Yanagawa et al. (2007) hypothesized that the elevated lysosomal pH in Cate -/- macrophages was likely due to the accumulation of the highly acidic lysosomal sialoglycoproteins.
Azuma, T., Liu, W. G., Vander Laan, D. J., Bowcock, A. M., Taggart, R. T. Human gastric cathepsin E gene: multiple transcripts result from alternative polyadenylation of the primary transcripts of a single gene locus at 1q31-q32. J. Biol. Chem. 267: 1609-1614, 1992. [PubMed: 1370478]
Azuma, T., Pals, G., Mohandas, T. K., Couvreur, J. M., Taggart, R. T. Cathepsin E: molecular cloning and characterization using aspartyl proteinase active site probes. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A171 only, 1989.
Azuma, T., Pals, G., Mohandas, T. K., Couvreur, J. M., Taggart, R. T. Human gastric cathepsin E: predicted sequence, localization to chromosome 1, and sequence homology with other aspartic proteinases. J. Biol. Chem. 264: 16748-16753, 1989. [PubMed: 2674141]
Couvreur, J. M., Azuma, T., Miller, D. A., Rocchi, M., Mohandas, T. K., Boudi, F. A., Taggart, R. T. Assignment of cathepsin E (CTSE) to human chromosome region 1q31 by in situ hybridization and analysis of somatic cell hybrids. Cytogenet. Cell Genet. 53: 137-139, 1990. [PubMed: 2369841] [Full Text: https://doi.org/10.1159/000132914]
Couvreur, J. M., Johnson, M. P., Azuma, T., Boudi, F. A., Rocchi, M., Mohandas, T. K., Miller, D. A., Taggart, R. T. Cathepsin E: localization of a single gene locus to 1q31 by restriction analysis of X;1 translocation somatic cell hybrids, and in situ hybridization. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A135 only, 1989.
Taggart, R. T., Azuma, T., Couvreur, J. M., Mohandas, T. K. Isolation and mapping genes identified with probes specific for the conserved active site of aspartic proteinases. (Abstract) Cytogenet. Cell Genet. 51: 1088 only, 1989.
Yanagawa, M., Tsukuba, T., Nishioku, T., Okamoto, Y., Okamoto, K., Takii, R., Terada, Y., Nakayama, K. I., Kadowaki, T., Yamamoto, K. Cathepsin E deficiency induces a novel form of lysosomal storage disorder showing the accumulation of lysosomal membrane sialoglycoproteins and the elevation of lysosomal pH in macrophages. J. Biol. Chem. 282: 1851-1862, 2007. [PubMed: 17095504] [Full Text: https://doi.org/10.1074/jbc.M604143200]