Abstract
Currently 30 human ABC proteins are represented by full sequences in various databases, and this paper provides a brief overview of these proteins. ABC proteins are composed of transmembrane domains (TMDs), and nucleotide binding domains (NBDs, or ATP-binding cassettes, ABSs). The arrangement of these domains, together with available membrane topology models of the family members, are presented. Based on their sequence similarity scores, the members of the human ABC protein family can be grouped into eight subfamilies. At present the MDR/TAP, the ALD, the MRP/CFTR, the ABC1, the White, the RNAseL inhibitor, the ANSA, and the GCN20 subfamilies are identified. Mutations of many human ABC proteins are known to be causative in inherited diseases, and a short description of the molecular pathology of these ABC gene-related genetic diseases is also provided.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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ATP Binding Cassette Transporter 1
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ATP Binding Cassette Transporter, Subfamily B, Member 1 / genetics
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ATP-Binding Cassette Transporters / chemistry
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ATP-Binding Cassette Transporters / classification*
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ATP-Binding Cassette Transporters / genetics
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Cystic Fibrosis Transmembrane Conductance Regulator / genetics
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DNA-Binding Proteins / genetics
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Glycoproteins / genetics
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Humans
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Membrane Proteins / genetics*
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Multidrug Resistance-Associated Proteins*
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MutS Homolog 3 Protein
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Sequence Alignment
Substances
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ABCA1 protein, human
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ABCF1 protein, human
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ATP Binding Cassette Transporter 1
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ATP Binding Cassette Transporter, Subfamily B, Member 1
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ATP-Binding Cassette Transporters
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CFTR protein, human
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DNA-Binding Proteins
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Glycoproteins
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MSH3 protein, human
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Membrane Proteins
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Multidrug Resistance-Associated Proteins
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MutS Homolog 3 Protein
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Cystic Fibrosis Transmembrane Conductance Regulator
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multidrug resistance-associated protein 1