Cloning, characterization and mapping of the human ATP5E gene, identification of pseudogene ATP5EP1, and definition of the ATP5E motif

A cDNA encoding the epsilon subunit of human ATP synthase, ATP5E, was isola ted from heart, skeletal muscle and spleen cDNA libraries respectively. Its genome structure was characterized as comprising three exons and two intro ns within a stretch of 5 kb, according to the genomic sequence AL109840. Th e gene was mapped to human chromosome 20q13.3 between marker D20S173 and 20 qter using the radiation hybrid GB4 panel. Northern blot analysis showed th at the ATP5E gene was expressed as a single 0.6 kb transcript in all 16 hum an tissues tested, with a high level present in heart and skeletal muscle. A new conserved motif composed of 24 residues, termed the ATPSE motif [W(R/ K)X5YX2(Y/F)X-3(C/A)X4RX3K], was defined on the basis of sequences of ATP s ynthase epsilon subunits from ten different organisms. In addition, a pseud ogene ATP5EP1 was also identified on the basis of genomic sequence AC004066 , localized on human chromosome 4q25. By analysing these results combined w ith the Southern blot patterns of human DNA hybridized with bovine ATPSE cD NA reported previously [Vinas, Powell, Runswick, Iacobazzi and Walker(1990) Biochem. J. 265, 321-326], we provide evidence of yet further homologous s equences (either gene or pseudogene) of ATPSE, in addition to ATPSE and ATP 5EP1 in the human genome.