title: Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.
abstract: We isolated a novel human ATP-binding cassette (ABC) transporter cDNA, determined its nucleotide sequence, and designated it human ABC7 (hABC7). The nucleotide sequence was highly homologous to the ATM1 gene in yeast, which encodes an ABC transporter (yAtm1p) located in the mitochondrial inner membrane. The deduced human product, a putative half-type transporter, consists of 752 amino acids that are 48.9% identical to those of yAtm1p. A computer-assisted protein structural and localization analysis revealed that the mitochondrial targeting signal of yAtm1p is conserved in the N-terminal region of the primary sequence of the hABC7 protein, and therefore this product is also likely to be located in the mitochondrial inner membrane. The evidence strongly suggests that the hABC7 gene is a counterpart of ATM1 and that its product is probably involved in heme transport. We mapped the hABC7 gene to chromosome Xq13.1-q13.3 by fluorescence in-situ hybridization. As band Xq13 has been implicated in X-linked sideroblastic anemia with spinocerebellar ataxia, hABC7 becomes a candidate gene for this heritable disorder.
authors.affiliation: Otsuka GEN Research Institute, Otsuka Pharmaceutical Company Ltd., Tokushima, Japan. shim@gen.otsuka.genome.ad.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Shimada
authors.forename: S
authors.initials: S
authors.lastname: Okuno
authors.forename: A
authors.initials: A
authors.lastname: Kawai
authors.forename: H
authors.initials: H
authors.lastname: Shinomiya
authors.forename: A
authors.initials: A
authors.lastname: Saito
authors.forename: M
authors.initials: M
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Omori
authors.forename: N
authors.initials: N
authors.lastname: Nishino
authors.forename: N
authors.initials: N
authors.lastname: Kanemoto
authors.forename: T
authors.initials: T
authors.lastname: Fujiwara
authors.forename: M
authors.initials: M
authors.lastname: Horie
authors.forename: E
authors.initials: E
authors.lastname: Takahashi
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000378:metabolism; D018528:ATP-Binding Cassette Transporters / Q000502:physiology; D000595:Amino Acid Sequence; D000756:Anemia, Sideroblastic / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D001692:Biological Transport; D001798:Blood Proteins / Q000378:metabolism; D001921:Brain / Q000201:enzymology; D002871:Chromosome Banding; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D003600:Cytosol / Q000378:metabolism; D018076:DNA, Complementary / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology; D005796:Genes; D006418:Heme / Q000378:metabolism*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007425:Intracellular Membranes / Q000378:metabolism; D007527:Isoenzymes / Q000378:metabolism; D051379:Mice; D008928:Mitochondria / Q000378:metabolism*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000378:metabolism; D012441:Saccharomyces cerevisiae / Q000235:genetics; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
chemical_list: C113037:ABCB7 protein, human; D018528:ATP-Binding Cassette Transporters; D001798:Blood Proteins; D018076:DNA, Complementary; D007527:Isoenzymes; D009419:Nerve Tissue Proteins; D006418:Heme; D000624:5-Aminolevulinate Synthetase