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This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014]
IMPA1 (Inositol Monophosphatase 1) is a Protein Coding gene. Diseases associated with IMPA1 include Mental Retardation, Autosomal Recessive 59 and Bipolar Disorder. Among its related pathways are Inositol phosphate metabolism (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is IMPA2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000287 | magnesium ion binding | IDA | 9462881 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008934 | inositol monophosphate 1-phosphatase activity | IEA,IMP | 1377913 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0030145 | manganese ion binding | IDA | 9462881 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 1377913 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Inositol phosphate metabolism (KEGG) | ||
2 | Inositol phosphate metabolism (REACTOME) | ||
3 | Metabolism |
.40
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4 | MAPK Erk Pathway |
.32
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5 | Integrated Breast Cancer Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006020 | inositol metabolic process | IBA | 21873635 |
GO:0006021 | inositol biosynthetic process | IEA | -- |
GO:0006661 | phosphatidylinositol biosynthetic process | IMP | 1377913 |
GO:0006796 | phosphate-containing compound metabolic process | IMP | 1377913 |
GO:0007165 | signal transduction | IBA,IMP | 1377913 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Inositol | Approved, Investigational, Withdrawn | Pharma | 110 | |||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Lithium carbonate | Approved | Pharma | Target | Mood stabilizer; inhibits Na+/K+ ATPase pump activity | 301 | |
Lithium citrate | Approved | Pharma | Target | 0 | ||
Phosphoric acid | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
1D-myo-Inositol 3-phosphate |
|
2831-74-5 |
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D-Myo-inositol 4-phosphate |
|
46495-39-0 |
|
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||
Inositol phosphate |
|
15421-51-9 |
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||
Myo-inositol 1-phosphate |
|
573-35-3 |
|
|
||
Phosphate |
|
14066-19-4, 14265-44-2 |
|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC100613673 30 |
|
||
IMPA1 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | IMPA1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IMPA1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Impa1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Impa1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | IMPA1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IMPA1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IMPA1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IMPA1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | impa1 30 |
|
||
Str.15926 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | impa1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | impa1 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9875 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9391 30 31 32 |
|
ManyToMany | |
CG17026 31 32 |
|
ManyToMany | |||
CG17027 31 32 |
|
ManyToMany | |||
CG17029 31 32 |
|
ManyToMany | |||
CG17028 31 |
|
ManyToMany | |||
CG9389 31 32 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006570 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | ttx-7 30 31 |
|
OneToMany | |
F13G3.5 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | INM2 30 31 33 |
|
ManyToMany | |
INM1 31 |
|
ManyToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | VTC4 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0587000 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06348 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.11400 30 |
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713363 | Likely Benign: not provided | 81,680,732(-) | G/A | MISSENSE_VARIANT | |
716533 | Benign: not provided | 81,676,288(-) | A/T | INTRON_VARIANT | |
764254 | Likely Benign: not provided | 81,679,182(-) | G/T | SYNONYMOUS_VARIANT | |
780760 | Benign: not provided | 81,685,828(-) | T/C | MISSENSE_VARIANT,INTRON_VARIANT | |
rs1057519491 | Pathogenic: Mental retardation, autosomal recessive 59 | 81,671,011(-) | G/GAGCCC | FRAMESHIFT_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1774004 | CNV | insertion | 17803354 |
esv2665097 | CNV | deletion | 23128226 |
esv2737230 | CNV | deletion | 23290073 |
esv3572858 | CNV | loss | 25503493 |
nsv1117492 | CNV | tandem duplication | 24896259 |
nsv1120564 | CNV | tandem duplication | 24896259 |
nsv1132974 | CNV | insertion | 24896259 |
nsv1140913 | CNV | deletion | 24896259 |
nsv1141590 | CNV | duplication | 24896259 |
nsv1142033 | OTHER | inversion | 24896259 |
nsv1146710 | CNV | insertion | 26484159 |
nsv465721 | CNV | gain | 19166990 |
nsv611607 | CNV | gain | 21841781 |
nsv831368 | CNV | gain | 17160897 |
nsv831369 | CNV | gain+loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, autosomal recessive 59 |
|
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bipolar disorder |
|
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mood disorder |
|
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tooth resorption |
|
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gingival recession |
|
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