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Transporter Information:
Name: ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2
Symbol: ATP8A2
TC: 3.A.3.8.1
Locations: 13q12-13
Aliases: ATPIB, ML-1
GenBank: AL137256
Swiss-Prot: Q9NTI2
Accession Number: NM_016529
PubMed (10551800): Sun XL, Li D, Fang J, Noyes I, Casto B, Theil K, Shuler C, Milo GE. Changes in levels of normal ML-1 gene transcripts associated with theconversion of human nontumorigenic to tumorigenic phenotypes.Gene Expr. 1999;8(2):129-39. PMID: 10551800 [PubMed - indexed for MEDLINE]

Evaluation of malignant human tumors in a xenobiotic nude mouse system has demonstrated that not all cells in tumors exhibit the capacity to form progressively growing tumors. However, nontumorigenic cells isolated from human tumors can be converted to a tumorigenic phenotype in nude mice by treatment with chemical carcinogens or by transfection with antisense to tumor suppressor genes. A newly discovered gene, designated ML-1, appears to be associated with tumorigenesis, because an ML-1 antisense cDNA construct, transfected into nontumorigenic, anchorage-independent growth (AIG) cells, was sufficient to convert these cells into a tumorigenic phenotype. The AIG cells transfected with ML-1 antisense cDNA constructs and converted to tumorigenic cells did not exhibit expression of normal ML-1 mRNA transcripts in the converted cells when evaluated by Northern analysis, whereas premalignant and normal cells expressed ML-1 transcripts at a high level. The converted cells exhibited a loss of growth control and produced tumors in a surrogate nude mouse that were greater than 2.0 cm in less than 2 months. The ML-1 gene has a DNA sequence that is 2177 bp in size and is located on chromosome number 13 on the q arm at site 12-14. Sequence analysis and investigation of GenBank sequences indicate that this is a newly described human gene.

PubMed (11015572): Halleck MS, Lawler JF JR, Blackshaw S, Gao L, Nagarajan P, Hacker C, Pyle S,Newman JT, Nakanishi Y, Ando H, Weinstock D, Williamson P, Schlegel RA. Differential expression of putative transbilayer amphipath transporters.Physiol Genomics. 1999 Nov 11;1(3):139-50. PMID: 11015572 [PubMed - indexed for MEDLINE]

The aminophospholipid translocase transports phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Cloning of the gene encoding the enzyme identified a new subfamily of P-type ATPases, proposed to be amphipath transporters. As reported here, mammals express as many as 17 different genes from this subfamily. Phylogenetic analysis reveals the genes to be grouped into several distinct classes and subclasses. To gain information on the functions represented by these groups, Northern analysis and in situ hybridization were used to examine the pattern of expression of a panel of subfamily members in the mouse. The genes are differentially expressed in the respiratory, digestive, and urogenital systems, endocrine organs, the eye, teeth, and thymus. With one exception, all of the genes are highly expressed in the central nervous system (CNS); however, the pattern of expression within the CNS differs substantially from gene to gene. These results suggest that the genes are expressed in a tissue-specific manner, are not simply redundant, and may represent isoforms that transport a variety of different amphipaths.