Structure of the gene encoding the human plasma membrane calcium pump isoform 1

Helene Hilfiker, Marie Antoinette Strehler-Page, Thomas P. Stauffer, Ernesto Carafoli, Emanuel E. Strehler

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


The complete structure of the gene for the human plasma membrane calcium ATPase isoform 1 (hPMCA1) has been elucidated. The protein is encoded by 21 exons present on overlapping clones covering more than 100 kilobases (kb) of DNA. An intron of over 35 kb separates the 5′-untranslated exon 1 from the exon containing the translational start codon. The entire putative promoter and 5′-flanking region is embedded in a CpG island and. is characterized by the presence of numerous Sp1 factor-binding sequences and by the absence of a TATA box. In accordance with the ubiquitous tissue distribution of its rnRNA these results suggest that the hPMCA1 gene is of the house-keeping type. No alternative splicing comparable to that identified in PMCA2 RNAs at site "A" and in PMCA3 RNAs close to site "C" seems to occur in hPMCA1 transcripts; however, a region in intron 6 shows significant resemblance to the site "A" alternatively spliced exons in PMCA2 and may represent a pseudoexon or a functional exon not yet detected in any PMCA1 mRNA. At six positions, intron interruptions in the hPMCA1 gene correlate with the boundaries of putative transmembrane domains in the protein, whereas most of the remaining intron positions do not show an obvious correlation with the proposed pump domain structure. The limited conservation of intron positions in different P-type pump genes indicates their early separation from a common ancestor.

Original languageEnglish (US)
Pages (from-to)19717-19725
Number of pages9
JournalJournal of Biological Chemistry
Issue number26
StatePublished - Sep 15 1993

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Cell Biology


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