The Human ATP-Binding Cassette (ABC) Transporter Superfamily
10.1101/gr.184901
Crossref journal-article
Cold Spring Harbor Laboratory
Genome Research (246)
Abstract

The ATP-binding cassette (ABC) transporter superfamily contains membrane proteins that translocate a variety of substrates across extra- and intra-cellular membranes. Genetic variation in these genes is the cause of or contributor to a wide variety of human disorders with Mendelian and complex inheritance, including cystic fibrosis, neurological disease, retinal degeneration, cholesterol and bile transport defects, anemia, and drug response. Conservation of the ATP-binding domains of these genes has allowed the identification of new members of the superfamily based on nucleotide and protein sequence homology. Phylogenetic analysis is used to divide all 48 known ABC transporters into seven distinct subfamilies of proteins. For each gene, the precise map location on human chromosomes, expression data, and localization within the superfamily has been determined. These data allow predictions to be made as to potential functions or disease phenotypes associated with each protein. In this paper, we review the current state of knowledge on all human ABC genes in inherited disease and drug resistance. In addition, the availability of the completeDrosophila genome sequence allows the comparison of the known human ABC genes with those in the fly genome. The combined data enable an evolutionary analysis of the superfamily. Complete characterization of all ABC from the human genome and from model organisms will lead to important insights into the physiology and the molecular basis of many human disorders.

Bibliography

Dean, M., Rzhetsky, A., & Allikmets, R. (2001). The Human ATP-Binding Cassette (ABC) Transporter Superfamily. Genome Research, 11(7), 1156–1166.

Authors 3
  1. Michael Dean (first)
  2. Andrey Rzhetsky (additional)
  3. Rando Allikmets (additional)
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Dates
Type When
Created 3 years, 9 months ago (Nov. 18, 2021, 1:58 p.m.)
Deposited 3 years, 9 months ago (Nov. 18, 2021, 2:02 p.m.)
Indexed 50 minutes ago (Aug. 30, 2025, 2:57 a.m.)
Issued 24 years, 7 months ago (Jan. 18, 2001)
Published 24 years, 7 months ago (Jan. 18, 2001)
Published Online 24 years, 7 months ago (Jan. 18, 2001)
Published Print 24 years, 1 month ago (July 1, 2001)
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@article{Dean_2001, title={The Human ATP-Binding Cassette (ABC) Transporter Superfamily}, volume={11}, ISSN={1549-5469}, url={http://dx.doi.org/10.1101/gr.184901}, DOI={10.1101/gr.184901}, number={7}, journal={Genome Research}, publisher={Cold Spring Harbor Laboratory}, author={Dean, Michael and Rzhetsky, Andrey and Allikmets, Rando}, year={2001}, month=jan, pages={1156–1166} }