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Overlapping ATP2C1 and ASTE1 Genes in Human Genome: Implications for SPCA1 Expression?
School of Biosciences, University of Exeter, Exeter, England EX4 4QD, UK
Division of Molecular Cell Biology, Institute for Molecular Bioscience, the University of Queensland, 306 Carmody Road, St. Lucia, Brisbane QLD 4072, Australia
Faculty of Health Sciences, The Southbank Institute of Technology, 66 Ernest Street, South Brisbane QLD 4101, Australia
* Author to whom correspondence should be addressed.
Received: 20 November 2012; in revised form: 5 December 2012 / Accepted: 7 December 2012 / Published: 4 January 2013
Abstract: The ATP2C1 gene encodes for the secretory pathway calcium (Ca2+)-ATPase pump (SPCA1), which localizes along the secretory pathway, mainly in the trans-Golgi. The loss of one ATP2C1 allele causes Hailey-Hailey disease in humans but not mice. Examining differences in genomic organization between mouse and human we speculate that the overlap between ATP2C1 and ASTE1 genes only in humans could explain this different response to ATP2C1 dysregulation. We propose that ASTE1, overlapping with ATP2C1 in humans, affects alternative splicing, and potentially protein expression of the latter. If dysregulated, the composition of the SPCA1 isoform pool could diverge from the physiological status, affecting cytosolic Ca2+-signaling, and in turn perturbing cell division, leading to cell death or to neoplastic transformation.
Keywords: ASTE1; ATP2C1; ATPase Ca2+ pump; gene expression; Golgi apparatus; Hailey-Hailey disease; intracellular membrane trafficking; SPCA1
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MDPI and ACS Style
Micaroni, M.; Malquori, L. Overlapping ATP2C1 and ASTE1 Genes in Human Genome: Implications for SPCA1 Expression? Int. J. Mol. Sci. 2013, 14, 674-683.
Micaroni M, Malquori L. Overlapping ATP2C1 and ASTE1 Genes in Human Genome: Implications for SPCA1 Expression? International Journal of Molecular Sciences. 2013; 14(1):674-683.
Micaroni, Massimo; Malquori, Lorenzo. 2013. "Overlapping ATP2C1 and ASTE1 Genes in Human Genome: Implications for SPCA1 Expression?" Int. J. Mol. Sci. 14, no. 1: 674-683.