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Transporter Information:
Name: ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1
Symbol: ATP8A1
TC: 3.A.3.8.1
Locations: 4p14-p12
Aliases: ATPIA
GenBank: AF067820
Swiss-Prot: Q9Y2Q0
Accession Number: NM_006095
PubMed (10198212): Mouro I, Halleck MS, Schlegel RA, Mattei MG, Williamson P, Zachowski A,Devaux P, Cartron JP, Colin Y. Cloning, expression, and chromosomal mapping of a human ATPase II gene, memberof the third subfamily of P-type ATPases and orthologous to the presumed bovineand murine aminophospholipid translocase.Biochem Biophys Res Commun. 1999 Apr 13;257(2):333-9. PMID: 10198212 [PubMed - indexed for MEDLINE]

Recently, a P-type ATPase was cloned from bovine chromaffin granules (b-ATPase II) and a mouse teratocarcinoma cell line (m-ATPase II) and was shown to be homologous to the Saccharomyces cerevisiae DRS2 gene, the inactivation of which resulted in defective transport of phosphatidylserine. Here, we report the cloning from a human skeletal muscle cDNA library of a human ATPase II (h-ATPase II), orthologous to the presumed bovine and mouse aminophospholipid translocase (95.3 and 95.9% amino acid identity, respectively). Compared with the bovine and mouse counterparts, the cloned h-ATPase II polypeptide exhibits a similar membrane topology, but contains 15 additional amino acids (1163 vs 1148) located in the second intracytoplasmic loop, near the DKTGTLT-phosphorylation site. However, RT-PCR analysis performed with RNA from different human tissues and cell lines revealed that the coding sequence for these 15 residues is sometimes present and sometimes absent, most likely as a result of a tissue-specific alternative splicing event. The h-ATPase II gene, which was mapped to chromosome 4p14-p12, is expressed as a 9.5-kb RNA species in a large variety of tissues, but was not detected in liver, testis, and placenta, nor in the erythroleukemic cell line K562.

PubMed (9548971): Halleck MS, Pradhan D, Blackman C, Berkes C, Williamson P, Schlegel RA. Multiple members of a third subfamily of P-type ATPases identified by genomicsequences and ESTs.Genome Res. 1998 Apr;8(4):354-61. PMID: 9548971 [PubMed - indexed for MEDLINE]

The Saccharomyces cerevisiae genome contains five P-type ATPases divergent from both of the well-known subfamilies of these membrane ion transporters. This newly recognized third subfamily can be further divided into four classes of genes with nearly equal relatedness to each other. Genes of this new subfamily are also present and expressed in multicellular organisms such as Caenorhabditis elegans and mammals; some, but not all, can be assigned to the classes identified in yeast. Different classes of genes and different genes within a class are expressed differentially in tissues of the mouse. The recently cloned gene for the mammalian aminophospholipid translocase belongs to this new subfamily, suggesting that other subfamily members may transport other lipids or lipid-like molecules from one leaflet of the membrane bilayer to the other.

>sp|Q9Y2Q0|AT8A1_HUMAN Probable phospholipid-transporting ATPase IA OS=Homo sapiens GN=ATP8A1 PE=1 SV=1