IMPA1
inositol monophosphatase 1
Summary
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]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1308325707 | 8:82,571,603 | G/A | — | likely pathogenic |
| rs1277601001 | 8:82,571,612 | G/A | — | uncertain significance |
| rs374985214 | 8:82,571,633 | C/T | — | uncertain significance |
| rs778270892 | 8:82,571,636 | T/C | — | uncertain significance |
| rs1260261553 | 8:82,571,701 | C/T | — | uncertain significance |
| rs775477038 | 8:82,572,784 | T/A | — | uncertain significance |
| rs562872543 | 8:82,572,850 | C/T | — | uncertain significance |
| rs149824165 | 8:82,572,856 | T/C | — | uncertain significance |
| rs2400589 | 8:82,575,783 | C/T | intron variant | — |
| rs748392792 | 8:82,583,204 | A/G | — | uncertain significance |
| rs2487757744 | 8:82,583,243 | G/A | — | uncertain significance |
| rs61734512 | 8:82,583,280 | T/C | — | uncertain significance |
| rs376742471 | 8:82,586,154 | C/G | — | uncertain significance |
| rs1250281887 | 8:82,586,156 | A/G | — | uncertain significance |
| rs183772097 | 8:82,588,523 | A/T | — | benign |
| rs139555224 | 8:82,591,417 | G/T | — | likely benign |
| rs61755741 | 8:82,592,945 | G/A | — | uncertain significance |
| rs61755740 | 8:82,592,967 | G/A | — | likely benign |
| rs555250439 | 8:82,592,972 | C/T | — | uncertain significance |
| rs574730302 | 8:82,592,987 | T/C | — | uncertain significance |
| rs1039110261 | 8:82,593,737 | C/T | — | uncertain significance |
| rs142875760 | 8:82,598,063 | T/C | — | benign |
| rs1807505384 | 8:82,598,098 | A/G | — | uncertain significance |
| rs1187427694 | 8:82,598,138 | G/T | — | uncertain significance |
| rs1807508037 | 8:82,598,142 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.