BPNT1
Description
The BPNT1 (3'(2'), 5'-bisphosphate nucleotidase 1) is a protein-coding gene located on chromosome 1.
BPNT1 is a phosphatase that converts 3'(2')-phosphoadenosine 5'-phosphate (PAP) to AMP and inositol 1,4-bisphosphate (Ins(1,4)P2) to inositol 4-phosphate. It also hydrolyzes adenosine 3'-phosphate 5'-phosphosulfate (PAPS) to adenosine 5'-phosphosulfate (APS). BPNT1 likely prevents the toxic buildup of PAP, which inhibits several proteins, including sulfotransferases and RNA processing enzymes. It may also play a role in inositol recycling and phosphoinositide metabolism. BPNT1 does not act on 3'-AMP, inositol-1-phosphate, or inositol-1,4,5-triphosphate.
BPNT1 is also known as HEL20, HsPIP, PIP.
Associated Diseases
- substance abuse
- progressive familial intrahepatic cholestasis
- congenital analbuminemia
- familial apolipoprotein C-II deficiency
- MPI-congenital disorder of glycosylation
- mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- CCDC115-CDG
- pediatric hepatocellular carcinoma
- pentosuria
- combined oxidative phosphorylation deficiency 49
- hemochromatosis type 5
- isolated asymptomatic elevation of creatine phosphokinase
