BPNT1 is primarily involved in the hydrolysis of 3’(2’)-phosphoadenosine 5’-phosphate (PAP) to adenosine monophosphate (AMP) and inositol 1,4-bisphosphate (Ins(1,4)P2) to inositol 4-phosphate . It also has the ability to hydrolyze adenosine 3’-phosphate 5’-phosphosulfate (PAPS) to adenosine 5’-phosphosulfate (APS) . This activity is crucial for preventing the toxic accumulation of PAP, which can inhibit various proteins, including PAPS-utilizing enzymes such as sulfotransferases and RNA processing enzymes .
BPNT1 is expressed in various tissues, with significant expression in the testicular tissue, where it is also known as Testicular Tissue Protein Li 29 or Epididymis Luminal Protein 20 . The protein is highly conserved across species, with the human protein being 92% identical to its mouse counterpart .
The primary function of BPNT1 is to regulate nucleotide metabolism through its phosphatase activity. By converting PAP to AMP, BPNT1 plays a role in inositol recycling and phosphoinositide metabolism . This regulation is essential for maintaining cellular homeostasis and preventing the accumulation of toxic intermediates .
Mutations or dysregulation of BPNT1 have been associated with several diseases, including Brachydactyly, Type B1 and Fanconi Anemia, Complementation Group D1 . These associations underscore the importance of BPNT1 in maintaining normal cellular functions and its potential role in disease pathogenesis.