INPP1: Inositol Polyphosphate-1-Phosphatase
A key regulator of phosphoinositide signaling and potential therapeutic target
Gene Information Card
| Symbol | INPP1 |
|---|---|
| Full Name | Inositol Polyphosphate-1-Phosphatase |
| Gene Type | Protein coding |
| Chromosomal Location | 2q32.1 |
| NCBI Gene ID | 3623 ncbi.nlm.nih.gov/gene/3623 |
| Ensembl ID | ENSG00000115138 |
| UniProt ID | P21399 |
| OMIM ID | 147440 |
| HGNC ID | 6072 |
| Aliases | IPP, INPP-1, 5'-phosphatase, inositol polyphosphate 1-phosphatase |
Description
INPP1 encodes inositol polyphosphate-1-phosphatase, an enzyme that dephosphorylates inositol 1,4-bisphosphate and inositol 1,3,4-trisphosphate, thereby regulating phosphoinositide signaling pathways. The protein is involved in cellular processes such as calcium signaling, vesicle trafficking, and cell growth. Mutations or altered expression of INPP1 have been implicated in cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered INPP1 expression may disrupt phosphoinositide signaling, promoting cell proliferation and survival. | COSMIC; ClinVar |
| Prostate cancer | Reduced INPP1 activity linked to aberrant PI3K/AKT pathway activation. | COSMIC; NCBI Gene |
| Type 2 diabetes | INPP1 polymorphisms associated with insulin resistance and altered glucose metabolism. | OMIM; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.1 | High |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical cancer cells |
| MCF7 | 11.2 | Breast cancer cells |
| HepG2 | 7.8 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Reduced phosphatase activity |
| c.458C>T (p.Pro153Leu) | Missense | <0.01% | Unknown functional impact |
| c.721_723del (p.Phe241del) | Deletion | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that reduce or abolish enzymatic activity, potentially leading to dysregulated phosphoinositide signaling.
Gain of Function (GOF)
No gain-of-function mutations reported in INPP1.
Dominant Negative (DN)
No dominant-negative mutations reported in INPP1.
View complete mutation data：
Gene Ontology (GO)
| • inositol polyphosphate 1-phosphatase activity (GO:0004437) | • magnesium ion binding (GO:0000287) |
| • phosphatidylinositol dephosphorylation (GO:0046856) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Phosphatidylinositol signaling system (KEGG: hsa04070)
• Inositol phosphate metabolism (KEGG: hsa00562)
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
Protein Summary
INPP1 encodes a 399-amino acid protein (UniProt P21399) that functions as a magnesium-dependent phosphatase. It specifically removes the 1-phosphate from inositol 1,4-bisphosphate and inositol 1,3,4-trisphosphate, converting them to inositol 4-phosphate and inositol 3,4-bisphosphate, respectively. The enzyme is critical for maintaining cellular phosphoinositide homeostasis and modulating downstream signaling cascades.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INPP1 Knockout HEK293 Cell Line | EDJ-KQ1688 | Human | 3628 | Details Get a Quote |
| INPP1 Knockout A-549 Cell Line | EDJ-KQ21484 | Human | 3628 | Details Get a Quote |
| INPP1 Knockout HCT 116 Cell Line | EDJ-KQ21485 | Human | 3628 | Details Get a Quote |
| INPP1 Knockout HeLa Cell Line | EDJ-KQ21486 | Human | 3628 | Details Get a Quote |
