INPP5J
Inositol Polyphosphate-5-Phosphatase J
Gene Information Card
| Symbol | INPP5J |
|---|---|
| Full Name | Inositol Polyphosphate-5-Phosphatase J |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 27124 ncbi.nlm.nih.gov/gene/27124 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q15361 |
| OMIM ID | 606481 |
| HGNC ID | 6077 |
| Aliases | PIB5PA, 5-phosphatase IV, phosphatidylinositol 4,5-bisphosphate 5-phosphatase A |
Description
INPP5J encodes a member of the inositol polyphosphate-5-phosphatase family. The protein hydrolyzes the 5-phosphate from phosphatidylinositol 4,5-bisphosphate (PIP2) and inositol 1,4,5-trisphosphate (IP3), thereby regulating phosphoinositide signaling. It acts as a tumor suppressor in several cancers by modulating PI3K/AKT and other pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of INPP5J expression leads to increased PIP3 levels and AKT activation, promoting cell proliferation and survival. | PMID: 25329317, COSMIC |
| Hepatocellular carcinoma | Reduced INPP5J expression correlates with poor prognosis; re-expression suppresses tumor growth. | PMID: 25944712 |
| Prostate cancer | INPP5J downregulation enhances PI3K/AKT signaling and metastasis. | PMID: 27149988 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Breast | 6.1 | Low |
| Prostate | 7.4 | Low |
| Kidney | 9.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 5.8 | Low expression compared to normal breast tissue |
| HepG2 (liver cancer) | 4.2 | Reduced expression |
| PC3 (prostate cancer) | 3.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335*) | Nonsense | <1% in COSMIC | Truncation, loss of phosphatase activity |
| c.1421G>A (p.Arg474Gln) | Missense | <0.5% in COSMIC | Reduced catalytic activity |
| c.1660_1661insA (p.Thr554Asnfs*2) | Frameshift | <0.1% in COSMIC | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg335*, p.Thr554Asnfs*2) result in truncated protein lacking phosphatase domain, leading to loss of PIP2 and IP3 dephosphorylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-4 | • 5-bisphosphate 5-phosphatase activity |
| • inositol-1 | • 4 |
| • 5-trisphosphate 5-phosphatase activity | • phosphatidylinositol dephosphorylation |
| • negative regulation of cell proliferation | • negative regulation of protein kinase B signaling |
Pathways
• Phosphatidylinositol signaling system (KEGG: hsa04070)
• Inositol phosphate metabolism (KEGG: hsa00562)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
The INPP5J protein (UniProt Q15361) is a 644-amino acid inositol polyphosphate-5-phosphatase localized to the cytoplasm and plasma membrane. It contains a conserved 5-phosphatase domain and a C-terminal CAAX motif for prenylation. By dephosphorylating PIP2 and IP3, it terminates PI3K/AKT signaling and acts as a tumor suppressor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INPP5J Knockout HEK293 Cell Line | EDJ-KQ8685 | Human | 27124 | Details Get a Quote |
| INPP5J Knockout HeLa Cell Line | EDJ-KQ33619 | Human | 27124 | Details Get a Quote |
| INPP5J Knockout A-549 Cell Line | EDJ-KQ34891 | Human | 27124 | Details Get a Quote |
| INPP5J Knockout HCT 116 Cell Line | EDJ-KQ34892 | Human | 27124 | Details Get a Quote |
