PIP4P1 Gene: Phosphatidylinositol-4,5-Bisphosphate 4-Phosphatase 1
A key regulator of phosphoinositide signaling, implicated in cancer and metabolic disorders.
Gene Information Card
| Symbol | PIP4P1 |
|---|---|
| Full Name | phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 |
| Gene Type | protein coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 54859 ncbi.nlm.nih.gov/gene/54859 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q5T6F2 |
| OMIM ID | 610275 |
| HGNC ID | 23725 |
| Aliases | TMEM55A, FLJ20125 |
Description
PIP4P1 encodes a type I transmembrane protein that localizes to the plasma membrane and endosomes. It functions as a phosphatidylinositol-4,5-bisphosphate 4-phosphatase, converting PI(4,5)P2 to PI(5)P. This activity is critical for regulating phosphoinositide levels, which influence various cellular processes including vesicle trafficking, cytoskeletal dynamics, and cell signaling. PIP4P1 has been implicated in cancer progression, particularly in breast and prostate cancers, and in metabolic regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of PIP4P1 promotes tumor growth and metastasis; knockdown reduces cell proliferation and invasion. | PMID: 25944712 |
| Prostate Cancer | PIP4P1 is overexpressed in prostate cancer tissues and cell lines; silencing inhibits cell growth and induces apoptosis. | PMID: 27562819 |
| Type 2 Diabetes | PIP4P1 expression is altered in insulin-resistant tissues; involved in insulin signaling via PI(5)P regulation. | PMID: 23300459 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Breast | 8.7 | Low |
| Liver | 15.2 | Medium |
| Testis | 20.1 | High |
| Kidney | 10.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.5 | High expression; associated with aggressive phenotype |
| PC3 (prostate cancer) | 22.3 | High expression; promotes proliferation |
| HepG2 (liver cancer) | 12.1 | Moderate expression |
| HEK293 (embryonic kidney) | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.538G>A (p.Asp180Asn) | Missense | 0.01% (gnomAD) | Potential loss of function; affects catalytic activity |
| c.112C>T (p.Arg38Trp) | Missense | 0.005% (gnomAD) | Uncertain significance; may affect protein stability |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish PIP4P1 enzymatic activity, leading to elevated PI(4,5)P2 levels and altered signaling.
Gain of Function (GOF)
Amplification or overexpression of PIP4P1, observed in cancers, enhances PI(5)P production and promotes oncogenic signaling.
Dominant Negative (DN)
No evidence for dominant-negative mutations; PIP4P1 functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-4 | • 5-bisphosphate 4-phosphatase activity |
| • phosphatidylinositol binding | • integral component of membrane |
| • plasma membrane | • endosome |
| • phosphatidylinositol dephosphorylation | • phosphatidylinositol metabolic process |
Pathways
• Phosphatidylinositol phosphate metabolism
• PI5P signaling pathway
• Vesicle trafficking
Protein Summary
The PIP4P1 protein (UniProt Q5T6F2) is a 262-amino acid type I membrane protein with a single transmembrane domain. It contains a phosphatase domain that specifically dephosphorylates PI(4,5)P2 at the 4-position to generate PI(5)P. The protein is localized to the plasma membrane and endosomes, where it regulates phosphoinositide homeostasis. Its activity is implicated in cell proliferation, migration, and insulin signaling. Structural studies suggest it forms a homodimer, though the functional significance is not fully understood.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIP4P1 Knockout HEK293 Cell Line | EDJ-KQ1021 | Human | 90809 | Details Get a Quote |
| PIP4P1 Knockout A-549 Cell Line | EDJ-KQ21451 | Human | 90809 | Details Get a Quote |
| PIP4P1 Knockout HCT 116 Cell Line | EDJ-KQ21452 | Human | 90809 | Details Get a Quote |
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