Inositol monophosphatase 3

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]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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
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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

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

This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it.

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This page was last edited on 9 April 2022, at 01:11