Entity Details

Primary name IMPA1
Entity type gene
Source Source Link

Details

PrimaryID3612
RefseqGeneNG_015829
SymbolIMPA1
Nameinositol monophosphatase 1
Chromosome8
Location8q21.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1997-08-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsIMPA1_HUMAN

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006020 inositol metabolic process
GO:0006021 inositol biosynthetic process
GO:0006661 phosphatidylinositol biosynthetic process
GO:0006796 phosphate-containing compound metabolic process
GO:0007165 signal transduction
GO:0008934 inositol monophosphate 1-phosphatase activity
GO:0030145 manganese ion binding
GO:0031403 lithium ion binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043647 inositol phosphate metabolic process
GO:0046854 phosphatidylinositol phosphate biosynthetic process
GO:0046855 inositol phosphate dephosphorylation
GO:0052832 inositol monophosphate 3-phosphatase activity
GO:0052833 inositol monophosphate 4-phosphatase activity
GO:0052834 inositol monophosphate phosphatase activity

Diseases

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Disease IDSourceNameDescription
617323 OMIMMental retardation, autosomal recessive 59 (MRT59)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT59 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.