ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease
Open accessAbstract
ATP-binding cassette (ABC) transporters are one of the largest families of membrane-bound proteins and transport a wide variety of substrates across both extra- and intracellular membranes. They play a critical role in maintaining cellular homeostasis. To date, four ABC transporters belonging to subfamily D have been identified. ABCD1–3 and ABCD4 are localized to peroxisomes and lysosomes, respectively. ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes. On the other hand, ABCD4 is deduced to take part in the transport of vitamin B 12 from lysosomes into the cytosol. It is well known that the dysfunction of ABCD1 results in X-linked adrenoleukodystrophy, a severe neurodegenerative disease. Recently, it is reported that ABCD3 and ABCD4 are responsible for hepatosplenomegaly and vitamin B 12 deficiency, respectively. In this review, the targeting mechanism and physiological functions of the ABCD transporters are summarized along with the related disease.
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Further work demonstrated the role of the Walker A and B motifs in forming the ATP bindings site sandwich required for homodimerization of the ALD protein, and the subsequent power stroke of ATP-dependent substrate transport.
“Further work demonstrated the role of the Walker A and B motifs in forming the ATP bindings site sandwich required for homodimerization of the ALD protein, and the subsequent power stroke of ATP-dependent substrate transport [36,37].”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [36]
Section 5.1 (page unavailable) says ABCD proteins need to dimerize and describes a nucleotide-binding-domain sandwich with ATP-binding sites containing Walker A and B motifs. The paper does not describe a subsequent power stroke or establish that this mechanism drives ATP-dependent substrate transport. (LLM, conf=0.86)
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“Further work demonstrated the role of the Walker A and B motifs in forming the ATP bindings site sandwich required for homodimerization of the ALD protein, and the subsequent power stroke of ATP-dependent substrate transport [36,37].”
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- Authors
- Kawaguchi, K., & Morita, M.
- Affiliations
- University of Toyama (JP)
- Corresponding author
- Kawaguchi, Kosuke
- Venue
- BioMed Research International
- Publisher
- Wiley
- Published
- 2016
- Volume
- 2016
- Pages
- 1-11
- ISSN
- 1110-7243 (ISSN-L)
- 2314-6133
- 2314-6141
- PMC
- PMC5059523
- OpenAlex
- W2525741903
- Cited by
- 81
- References
- 72
- Citations by year
- 2026: 8 · 2025: 8 · 2024: 6 · 2023: 12 · 2022: 14 · 2021: 14 · 2020: 9 · 2019: 5 · 2018: 2 · 2017: 3
- FWCI
- 0.36
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- BioMed Research International (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- The Japan Science Society (27-427, 16K09961)
- Scientific Research (27-427, 16K09961)
- Ministry of Education, Culture, Sports, Science and Technology of Japan (27-427, 16K09961)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Oncology › Drug Transport and Resistance Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Peroxisome Proliferator-Activated Receptors
- Keywords
- ABC transporters, ABCD1, ABCD2, ABCD3, ABCD4, peroxisomes, lysosomes, vitamin B12 transport, X-linked adrenoleukodystrophy, hepatosplenomegaly, vitamin B12 deficiency, subcellular targeting, membrane transporters
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Fatty Acids, Humans, Lysosomes, Substrate Specificity, Vitamin B 12 Deficiency, ATP-Binding Cassette Transporters, Peroxisomes
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