INPP5F
Inositol Polyphosphate-5-Phosphatase F
Gene Information Card
| Symbol | INPP5F |
|---|---|
| Full Name | Inositol Polyphosphate-5-Phosphatase F |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.11 |
| NCBI Gene ID | 22876 ncbi.nlm.nih.gov/gene/22876 |
| Ensembl ID | ENSG00000198825 |
| UniProt ID | Q9Y2H2 |
| OMIM ID | 609389 |
| HGNC ID | 17073 |
| Aliases | SAC2, hSAC2, INPP5Fv1, INPP5Fv2 |
Description
INPP5F encodes a member of the inositol polyphosphate-5-phosphatase family. The protein hydrolyzes the 5-phosphate from phosphatidylinositol (3,4,5)-trisphosphate (PIP3) and inositol 1,3,4,5-tetrakisphosphate, thereby negatively regulating the PI3K/AKT signaling pathway. It also contains a SAC1-like domain that dephosphorylates phosphatidylinositol 4-phosphate. INPP5F is involved in endocytic trafficking, cell migration, and autophagy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Reduced INPP5F expression leads to increased PIP3 levels and AKT activation, promoting tumor growth | PMID: 25605249 |
| Colorectal cancer | Loss of INPP5F correlates with poor prognosis and enhanced PI3K signaling | PMID: 28424480 |
| Hepatocellular carcinoma | INPP5F downregulation contributes to cell proliferation and metastasis via AKT pathway | PMID: 29367642 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 4.5 | Low |
| Liver | 6.1 | Medium |
| Lung | 5.3 | Medium |
| Kidney | 7.0 | Medium |
| Testis | 9.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.5 | Embryonic kidney cells |
| HeLa | 5.2 | Cervical cancer cells |
| MCF7 | 4.8 | Breast cancer cells |
| HepG2 | 7.1 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Unknown functional impact |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Potential loss of phosphatase activity |
| c.1789_1791del (p.Lys597del) | In-frame deletion | <0.01% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Reduced phosphatase activity leading to increased PIP3 levels and AKT hyperactivation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-3 | • 4 |
| • 5-trisphosphate 5-phosphatase activity | • phosphatidylinositol-4-phosphate phosphatase activity |
| • phosphatidylinositol dephosphorylation | • negative regulation of phosphatidylinositol 3-kinase signaling |
| • endosome to lysosome transport | • autophagy |
Pathways
• PI3K-Akt signaling pathway
• Phosphatidylinositol phosphate metabolism
• Endocytosis
Protein Summary
INPP5F is a 1109-amino acid protein containing an N-terminal SAC1-like domain and a C-terminal 5-phosphatase domain. It localizes to endosomes and the plasma membrane, where it regulates phosphoinositide levels. The SAC1 domain dephosphorylates PI4P, while the 5-phosphatase domain converts PIP3 to PI(3,4)P2, modulating cell signaling and vesicular trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INPP5F Knockout HEK293 Cell Line | EDJ-KQ998 | Human | 22876 | Details Get a Quote |
| INPP5F Knockout A-549 Cell Line | EDJ-KQ21386 | Human | 22876 | Details Get a Quote |
| INPP5F Knockout HCT 116 Cell Line | EDJ-KQ21388 | Human | 22876 | Details Get a Quote |
| INPP5F Knockout HeLa Cell Line | EDJ-KQ21389 | Human | 22876 | Details Get a Quote |
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