Inositol monophosphatase 3
BPNT2 | |||||||||||||||||||||||||
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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 | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
UniProt | |||||||||||||||||||||||||
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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[]
- ^ 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".
Categories:
- Genes on human chromosome 8
- EC 3.1.3
- Human chromosome 8 gene stubs