BPNT2
Function
Exhibits 3'-nucleotidase activity toward adenosine 3',5'-bisphosphate (PAP), namely hydrolyzes adenosine 3',5'-bisphosphate into adenosine 5'-monophosphate (AMP) and a phosphate. May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation. Has no activity toward 3'-phosphoadenosine 5'-phosphosulfate (PAPS) or inositol phosphate (IP) substrates including I(1)P, I(1,4)P2, I(1,3,4)P3, I(1,4,5)P3 and I(1,3,4,5)P4.
Involvement in disease
Chondrodysplasia with joint dislocations, GPAPP type
CDP-GPAPP
A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Sulfur metabolism.
Post-translational modifications
Contains N-linked glycan resistant to endoglycosydase H.
Sequence Similarities
Belongs to the inositol monophosphatase superfamily.
Cellular localization
- Golgi apparatus
- Golgi apparatus
- trans-Golgi network membrane
- Single-pass type II membrane protein
- The catalytic core is predicted to reside within the Golgi lumen.
Alternative names
IMPA3, IMPAD1, BPNT2, Golgi-resident PAP phosphatase, gPAPP, Inositol monophosphatase domain-containing protein 1, Myo-inositol monophosphatase A3, Phosphoadenosine phosphate 3'-nucleotidase