The human P2x1 receptor: molecular cloning, tissue distribution, and localization to chromosome 17.

A human urinary bladder cDNA library was screened with a rat P2x purinoceptor probe. A full-length cDNA was isolated, and like its rat homologue, the deduced protein consists of 399 amino acids (M(r) = 44980 Da), contains two hydrophobic, putative transmembrane, domains flanking a large presumed extracellular loop, and represents the P2x1 subtype of this multigene family (approximately 89% amino acid sequence identity to rat P2x1, but only 40-50% identity to rat P2x2-4). Expression of the P2x1 gene in human bladder was confirmed by Northern analysis, which demonstrated a major transcript of approximately 2.9 kb. Transcripts were also found in a variety of other tissues including adult peripheral leukocytes, pancreas, spleen, prostate, small intestine, colon, testis, and ovary, and in fetal liver. The gene encoding the human P2x1 receptor was localized to chromosome 17 by Southern analysis of DNAs isolated from a panel of somatic cell hybrids. The results support a role for P2x purinoceptors in the regulation of human bladder function.