Inositol monophosphatase 3

Inositol monophosphatase 3 also known as inositol monophosphatase domain-containing protein 1 (IMPAD1) is an enzyme that in humans is encoded by the IMPAD1 gene.[5]

BPNT2
Identifiers
Aliases	BPNT2, GPAPP, IMP 3, IMP-3, IMPA3, inositol monophosphatase domain containing 1, IMPAD1, 3'(2'), 5'-bisphosphate nucleotidase 2
External IDs	OMIM: 614010 MGI: 1915720 HomoloGene: 9852 GeneCards: BPNT2
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q12.1 Start 56,957,931 bp[1] End 56,993,867 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 A1 Start 4,762,484 bp[2] End 4,793,355 bp[2]
Gene ontology Molecular function • inositol monophosphate 1-phosphatase activity • inositol monophosphate 4-phosphatase activity • hydrolase activity • inositol monophosphate phosphatase activity • metal ion binding • inositol monophosphate 3-phosphatase activity • 3'-nucleotidase activity • 3'(2'),5'-bisphosphate nucleotidase activity Cellular component • integral component of membrane • membrane • Golgi apparatus • cell nucleus • cytosol • nuclear body • Golgi lumen Biological process • skeletal system development • chondrocyte development • embryonic digit morphogenesis • phosphatidylinositol phosphorylation • chondroitin sulfate metabolic process • endochondral ossification • post-embryonic development • inositol biosynthetic process • dephosphorylation • 3'-phosphoadenosine 5'-phosphosulfate metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	54928	242291
Ensembl	ENSG00000104331	ENSMUSG00000066324
UniProt	Q9NX62	Q80V26
RefSeq (mRNA)	NM_017813	NM_177730
RefSeq (protein)	NP_060283	NP_808398
Location (UCSC)	Chr 8: 56.96 – 56.99 Mb	Chr 4: 4.76 – 4.79 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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).[5]

Clinical significance

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.[5]

References

1. GRCh38: Ensembl release 89: ENSG00000104331 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000066324 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Inositol monophosphatase domain containing 1".