title: Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant.
abstract: We presently report the cloning of cDNA sequences encoding the novel rat ATP-binding cassette (ABC) transporter Abca5 and the orthologous human transporter, recently designated as ABCA5. Furthermore, the existence of a novel non-translated exon of the ABCA5 gene, previously assigned to an ABCA gene cluster in the chromosomal region 17q24.2-3, is demonstrated. Abca5 and ABCA5 cDNAs are predicted to give rise to proteins of 1642 amino acids which exhibit the typical domain arrangement of ABC full transporters and share 90% identity within the amino acid sequences. A cDNA representing an ABCA5 mRNA splice variant was cloned which would result in a truncated protein equivalent to an ABC half transporter. Northern blot analyses revealed expression of ABCA5 or Abca5 mRNA in several tissues, but particularly high Abca5 mRNA expression was observed in rat testis. Up-regulation of Abca5 mRNA expression during culture of primary rat hepatocytes suggests that hepatocyte cultures should provide a basis for investigation of Abca5 gene regulation and elucidation of Abca5 function.
authors.affiliation: Institute of Pharmacology and Toxicology, Department of Toxicology, University of Göttingen, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany.
authors.forename: Frauke
authors.initials: F
authors.lastname: Petry
authors.forename: André
authors.initials: A
authors.lastname: Kotthaus
authors.forename: Karen I
authors.initials: KI
authors.lastname: Hirsch-Ernst
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D003001:Cloning, Molecular; D040461:Gene Components; D022781:Hepatocytes / Q000378:metabolism; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017434:Protein Structure, Tertiary; D012333:RNA, Messenger / Q000096:biosynthesis; D051381:Rats; D017208:Rats, Wistar; D016415:Sequence Alignment; D014018:Tissue Distribution
chemical_list: C471294:ABCA5 protein, human; D018528:ATP-Binding Cassette Transporters; C471293:Abca5 protein, rat; D012333:RNA, Messenger