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.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: September 17, 1997 / Accepted: January 9, 1998
Rights and permissions
About this article
Cite this article
Shimada, Y., Okuno, S., Kawai, A. et al. Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. J Hum Genet 43, 115–122 (1998). https://doi.org/10.1007/s100380050051
Published:
Issue Date:
DOI: https://doi.org/10.1007/s100380050051
This article is cited by
-
Regulation of mitochondrial iron homeostasis by sideroflexin 2
The Journal of Physiological Sciences (2019)
-
Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes
Leukemia (2016)
-
Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13)
International Journal of Hematology (2011)
-
Mitochondria in hematopoiesis and hematological diseases
Oncogene (2006)