IMPA1 Gene: Inositol Monophosphatase 1
Key enzyme in phosphatidylinositol signaling and lithium action
Gene Information Card
| Symbol | IMPA1 |
|---|---|
| Full Name | inositol monophosphatase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 3612 ncbi.nlm.nih.gov/gene/3612 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | P29218 |
| OMIM ID | 602064 |
| HGNC ID | 6050 |
| Aliases | IMP, IMPase, IPP |
Description
IMPA1 encodes inositol monophosphatase 1, an enzyme that catalyzes the dephosphorylation of inositol monophosphates to free inositol, a critical step in the phosphatidylinositol signaling pathway. This enzyme is a known target of lithium, used in bipolar disorder treatment. IMPA1 is expressed in various tissues, with highest levels in brain and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Lithium inhibits IMPA1, altering inositol levels and signaling | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in IMPA1 associated with ASD risk | ClinVar |
| Intellectual disability | Homozygous loss-of-function mutations linked to neurodevelopmental delay | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Kidney | 8.3 | Medium |
| Liver | 5.1 | Medium |
| Heart | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 11.7 | Neuronal cell line |
| HepG2 | 6.4 | Hepatocellular carcinoma |
| A549 | 4.9 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.491C>T (p.Pro164Leu) | Missense | Rare | Reduced enzyme activity |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of function |
| c.724G>A (p.Gly242Arg) | Missense | Rare | Impaired catalytic function |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function mutations cause IMPA1 deficiency, leading to inositol depletion and neurodevelopmental disorders.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • magnesium ion binding (GO:0000287) | • inositol monophosphate 1-phosphatase activity (GO:0003931) |
| • phosphate-containing compound metabolic process (GO:0006796) | • dephosphorylation (GO:0016311) |
| • phosphatidylinositol dephosphorylation (GO:0046856) |
Pathways
• Phosphatidylinositol signaling system (KEGG: hsa04070)
• Inositol phosphate metabolism (KEGG: hsa00562)
• Lithium action pathway (Reactome: R-HSA-432047)
Protein Summary
IMPA1 is a 277-amino acid protein that functions as a homodimer. It requires magnesium for activity and is inhibited by lithium ions. The enzyme plays a central role in recycling inositol from inositol monophosphates, essential for phosphatidylinositol synthesis and cellular signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IMPA1 Knockout HEK293 Cell Line | EDJ-KQ1690 | Human | 3612 | Details Get a Quote |
| IMPA1 Knockout A-549 Cell Line | EDJ-KQ21490 | Human | 3612 | Details Get a Quote |
| IMPA1 Knockout HCT 116 Cell Line | EDJ-KQ21491 | Human | 3612 | Details Get a Quote |
| IMPA1 Knockout HeLa Cell Line | EDJ-KQ21492 | Human | 3612 | Details Get a Quote |
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