Inositol_monophosphatase_3 Knowpia

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)
End	56,993,867 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	4,793,355 bp
RNA expression pattern
	Top expressed in
	internal globus pallidus; ; right ventricle; ; subthalamic nucleus; ; vena cava; ; pons; ; saphenous vein; ; external globus pallidus; ; middle temporal gyrus; ; parotid gland; ; superior vestibular nucleus;
	Top expressed in
	epithelium of stomach; ; ventromedial nucleus; ; crypt of lieberkuhn of small intestine; ; lateral hypothalamus; ; retinal pigment epithelium; ; body of femur; ; internal carotid artery; ; intercostal muscle; ; ciliary body; ; lacrimal gland;
	More reference expression data
	n/a
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; nucleus; cytosol; nuclear body; Golgi lumen;
Biological process	skeletal system development; chondrocyte development; embryonic digit morphogenesis; phosphatidylinositol phosphate biosynthetic process; chondroitin sulfate metabolic process; endochondral ossification; post-embryonic development; inositol biosynthetic process; dephosphorylation; 3'-phosphoadenosine 5'-phosphosulfate metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	54928
	242291
	ENSG00000104331
	ENSMUSG00000066324
	Q9NX62
	Q80V26
	NM_017813
	NM_177730
	NP_060283
	NP_808398
	Wikidata
View/Edit Human	View/Edit Mouse

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]

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 edit

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 edit

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000104331 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: Inositol monophosphatase domain containing 1".

[5]

[1]

[2]

[3]

[4]

Summary

Clinical significance edit

References edit