Overlapping ATP2C1 and ASTE1 Genes in Human Genome: Implications for SPCA1 Expression?

International Journal of Molecular Sciences

Massimo Micaroni¹ 

[1]School of Biosciences, University of Exeter, Exeter, England EX4 4QD, UK

关键词: ASTE1;    ATP2C1;    ATPase Ca²⁺ pump;    gene expression;    Golgi apparatus;    Hailey-Hailey disease;    intracellular membrane trafficking;    SPCA1;   

DOI  :  10.3390/ijms14010674

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2013 by the authors; licensee Molecular Diversity Preservation International, Basel, Switzerland.