title: An inventory of the human ABC proteins.
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.
authors.affiliation: Institute of Enzymology, Biological Research Center, Hungarian Academy of Sciences, H-1502, Budapest, Hungary.
authors.forename: I
authors.initials: I
authors.lastname: Klein
authors.forename: B
authors.initials: B
authors.lastname: Sarkadi
authors.forename: A
authors.initials: A
authors.lastname: Váradi
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics; D018528:ATP-Binding Cassette Transporters / Q000737:chemistry / Q000145:classification* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D027425:ATP-Binding Cassette, Sub-Family C Proteins; D000074081:MutS Homolog 3 Protein; D016415:Sequence Alignment
chemical_list: D064286:ATP Binding Cassette Transporter 1; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D018528:ATP-Binding Cassette Transporters; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004268:DNA-Binding Proteins; D006023:Glycoproteins; D008565:Membrane Proteins; D027425:ATP-Binding Cassette, Sub-Family C Proteins; D000074081:MutS Homolog 3 Protein; C577836:ABCA1 protein, human; C115776:ABCF1 protein, human; C505032:CFTR protein, human; C078444:MSH3 protein, human; C421109:multidrug resistance-associated protein 1