UniProt Protein Function: | IMPAD1: 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. Defects in IMPAD1 are the cause of 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. Belongs to the inositol monophosphatase family.Protein type: Membrane protein, integral; EC 3.1.3.25; Phosphatase (non-protein); EC 3.1.3.7Chromosomal Location of Human Ortholog: 8q12.1Cellular Component: Golgi apparatus; membrane; integral to membraneMolecular Function: 3'-nucleotidase activity; metal ion binding; inositol-1(or 4)-monophosphatase activity; 3'(2'),5'-bisphosphate nucleotidase activityBiological Process: chondroitin sulfate metabolic process; dephosphorylation; phosphoinositide phosphorylation; inositol biosynthetic process; embryonic digit morphogenesis; chondrocyte development; endochondral ossification; post-embryonic developmentDisease: Chondrodysplasia With Joint Dislocations, Gpapp Type |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011] |
UniProt Code: | Q9NX62 |
NCBI GenInfo Identifier: | 157388900 |
NCBI Gene ID: | 54928 |
NCBI Accession: | NP_060283.3 |
UniProt Secondary Accession: | Q9NX62,Q6NVY7 |
UniProt Related Accession: | Q9NX62 |
Molecular Weight: | 38,681 Da |
NCBI Full Name: | inositol monophosphatase 3 |
NCBI Synonym Full Names: | inositol monophosphatase domain containing 1 |
NCBI Official Symbol: | IMPAD1Â Â |
NCBI Official Synonym Symbols: | GPAPP; IMP 3; IMP-3; IMPA3Â Â |
NCBI Protein Information: | inositol monophosphatase 3; Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase; IMPase 3; golgi-resident PAP phosphatase; inositol monophosphatase domain-containing protein 1; inositol-1(or 4)-monophosphatase 3; myo-inositol monophosphatase A3 |
UniProt Protein Name: | Inositol monophosphatase 3 |
UniProt Synonym Protein Names: | Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase; Golgi-resident PAP phosphatase; gPAPP; Inositol monophosphatase domain-containing protein 1; Inositol-1(or 4)-monophosphatase 3; Myo-inositol monophosphatase A3 |
Protein Family: | Inositol monophosphatase |
UniProt Gene Name: | IMPAD1Â Â |
UniProt Entry Name: | IMPA3_HUMAN |