ENTPD3 Human

The ENTPD3 gene is located on chromosome 3 and encodes a plasma membrane-bound, divalent cation-dependent E-type nucleotidase . The protein has an extracellular active site and is involved in the metabolism of nucleotides . The recombinant form of NTPDase3 is often expressed without its N- and C-terminal transmembrane domains, resulting in the secretion of the soluble ectodomain .

NTPDase3 has a threefold preference for the hydrolysis of ATP over adenosine diphosphate (ADP) . This enzyme is essential for maintaining the balance of extracellular nucleotides, which are critical signaling molecules in various physiological processes. The hydrolysis of ATP and other nucleotides by NTPDase3 helps regulate purinergic signaling, which is involved in processes such as inflammation, thrombosis, and neurotransmission .

NTPDase3 is expressed on the cell surface of adult human pancreatic β cells, including those from individuals with type 1 or type 2 diabetes . During postnatal human pancreas development, NTPDase3 expression is dynamic. It initially appears in acinar cells at birth but later declines in these cells while emerging in islet β cells . This specific expression pattern makes NTPDase3 a valuable biomarker for adult human β cells .

Due to its specificity and membrane localization, NTPDase3 is used in various clinical and research applications. An antibody directed against NTPDase3 can be utilized for the purification of live human β cells, as confirmed by transcriptional profiling . Additionally, this antibody can be used for in vivo imaging of transplanted human β cells, making it a useful tool for studying β cell biology and diabetes .

Mutations or dysregulation of the ENTPD3 gene have been associated with several diseases, including prostate cancer and familial hypercholesterolemia . The role of NTPDase3 in these diseases is an area of ongoing research, with the potential for developing targeted therapies based on its enzymatic activity and expression patterns.