Alternative titles; symbols
HGNC Approved Gene Symbol: AOC1
Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:150,852,120-150,861,504 (from NCBI)
Amiloride acts as a diuretic via the closure of epithelial sodium ion channels. Barbry et al. (1990) used phenamil, an analog of amiloride and a potent blocker of the epithelial sodium channel, to purify the porcine kidney amiloride-binding protein. They then used synthetic oligonucleotides derived from partial sequences to screen a human kidney cDNA library and isolated the cDNA encoding the human amiloride-binding protein. The deduced amiloride-binding protein (EC 1.4.3.22) contains 713 amino acids, with a 19-amino acid signal peptide.
Lingueglia et al. (1993) detected the amiloride-binding protein in many epithelial-rich and/or hematopoietic rat tissues.
Novotny et al. (1994) demonstrated that ABP is an amiloride-sensitive diamine oxidase.
Chassande et al. (1994) found that the ABP/DAO gene encodes a deduced 751-amino acid protein.
Chassande et al. (1994) determined that the ABP/DAO gene contains 5 exons.
By in situ hybridization, Barbry et al. (1990) mapped the ABP gene to chromosome 7q34-q36. From studies of association between the ABP gene and cystic fibrosis by means of RFLPs, Barbry et al. (1990) excluded the gene from involvement in that disorder.
Barbry et al. (1990) expressed ABP mRNA in cultured cells and found that it yields a glycoprotein that binds amiloride and amiloride analogs with affinities similar to the amiloride receptor associated with the apical Na+ channel in pig kidney membranes and is immunoprecipitated with monoclonal antibodies raised against pig kidney amiloride-binding protein. Barbry et al. (1990) pointed out that amiloride-sensitive Na+ channels are also present in airway epithelia, where they play an important role in fluid secretion. Amiloride inhibits the excessive absorption of Na+ and liquid that takes place in airway epithelia of patients with cystic fibrosis (CF; 219700), and amiloride aerosol therapy has been tried for the treatment of lung disease in CF.
Chassande et al. (1994) noted that DAOs are copper enzymes that catalyze the oxidative deamination of histamine and/or putrescine and are highly expressed in dividing cells.
Barbry, P., Champe, M., Chassande, O., Munemitsu, S., Champigny, G., Lingueglia, E., Maes, P., Frelin, C., Tartar, A., Ullrich, A., Lazdunski, M. Human kidney amiloride-binding protein: cDNA structure and functional expression. Proc. Nat. Acad. Sci. 87: 7347-7351, 1990. [PubMed: 2217167] [Full Text: https://doi.org/10.1073/pnas.87.19.7347]
Barbry, P., Simon-Bouy, B., Mattei, M.-G., Le Guern, E., Jaume-Roig, B., Chassande, O., Ullrich, A., Lazdunski, M. Localization of the gene for amiloride binding protein on chromosome 7 and RFLP analysis in cystic fibrosis families. Hum. Genet. 85: 587-589, 1990. [PubMed: 2227949] [Full Text: https://doi.org/10.1007/BF00193579]
Chassande, O., Renard, S., Barbry, P., Lazdunski, M. The human gene for diamine oxidase, an amiloride binding protein: molecular cloning, sequencing, and characterization of the promoter. J. Biol. Chem. 269: 14484-14489, 1994. [PubMed: 8182053]
Lingueglia, E., Renard, S., Voilley, N., Waldmann, R., Chassande, O., Lazdunski, M., Barbry, P. Molecular cloning and functional expression of different molecular forms of rat amiloride-binding proteins. Europ. J. Biochem. 216: 679-687, 1993. [PubMed: 8375402] [Full Text: https://doi.org/10.1111/j.1432-1033.1993.tb18188.x]
Novotny, W. F., Chassande, O., Baker, M., Lazdunski, M., Barbry, P. Diamine oxidase is the amiloride-binding protein and is inhibited by amiloride analogues. J. Biol. Chem. 269: 9921-9925, 1994. [PubMed: 8144586]