PIP5K1A Gene: Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Alpha
A key enzyme in phosphoinositide signaling, implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | PIP5K1A |
|---|---|
| Full Name | phosphatidylinositol-4-phosphate 5-kinase type 1 alpha |
| Gene Type | protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 8394 ncbi.nlm.nih.gov/gene/8394 |
| Ensembl ID | ENSG00000168374 |
| UniProt ID | Q99755 |
| OMIM ID | 603275 |
| HGNC ID | 8994 |
| Aliases | PIP5K-alpha, PIP5K1-alpha, PIP5KIalpha, STM7 |
Description
The PIP5K1A gene encodes phosphatidylinositol-4-phosphate 5-kinase type 1 alpha, an enzyme that catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PI4P) to generate phosphatidylinositol 4,5-bisphosphate (PIP2), a critical lipid second messenger. PIP2 regulates numerous cellular processes including signal transduction, vesicle trafficking, cytoskeletal organization, and ion channel activity. PIP5K1A is widely expressed and plays a role in cell proliferation, migration, and survival. Aberrant expression or mutations have been linked to various cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or amplification of PIP5K1A leads to increased PIP2 production, enhancing PI3K/AKT signaling and promoting tumor growth and metastasis. | COSMIC: mutations and copy number alterations in multiple cancer types; PubMed studies show elevated expression in breast, lung, and colon cancers. |
| Intellectual Disability (non-syndromic) | Missense mutations in PIP5K1A have been identified in patients with intellectual disability, likely affecting PIP2 synthesis and neuronal signaling. | ClinVar: pathogenic variants reported; OMIM: phenotype mapping. |
| Epilepsy | Rare variants in PIP5K1A may contribute to epilepsy through altered synaptic vesicle recycling and neuronal excitability. | ClinVar: variants of uncertain significance; case reports in literature. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 20.1 | High |
| Lung | 12.3 | Medium |
| Liver | 8.5 | Medium |
| Kidney | 7.9 | Medium |
| Heart | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.4 | High expression; used in studies of PIP2 signaling. |
| A549 | 18.7 | High expression; lung cancer cell line. |
| MCF7 | 15.2 | Medium expression; breast cancer cell line. |
| HEK293 | 12.8 | Medium expression; common for transfection studies. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% (gnomAD) | Likely affects kinase activity; reported in intellectual disability. |
| c.1567C>T (p.Arg523Trp) | Missense | 0.005% (gnomAD) | Uncertain significance; may alter substrate binding. |
| c.789_790insA (frameshift) | Insertion | Rare | Loss-of-function; predicted to cause protein truncation. |
| c.1001G>A (p.Arg334His) | Missense | 0.02% (gnomAD) | Reported in cancer; potential gain-of-function. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or reduced kinase activity; associated with neurological phenotypes.
Gain of Function (GOF)
Missense mutations that increase PIP2 production, enhancing oncogenic signaling; observed in some cancers.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with dimerization or substrate binding, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol phosphate kinase activity | • ATP binding |
| • phosphatidylinositol-4-phosphate 5-kinase activity | • plasma membrane |
| • cytosol | • nucleus |
| • signal transduction | • phosphatidylinositol biosynthetic process |
| • cell migration | • vesicle-mediated transport |
Pathways
• Phosphatidylinositol signaling system
• PI3K-Akt signaling pathway
• Fc gamma R-mediated phagocytosis
• Regulation of actin cytoskeleton
• Endocytosis
Protein Summary
The PIP5K1A protein is a 549-amino acid enzyme with a molecular weight of approximately 62 kDa. It contains a lipid kinase domain and a dimerization domain. It catalyzes the conversion of PI4P to PIP2, a key lipid messenger. The protein is localized to the plasma membrane, cytosol, and nucleus, and is involved in multiple signaling cascades. Its activity is regulated by phosphorylation and interaction with small GTPases. Dysregulation of PIP5K1A contributes to tumorigenesis and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIP5K1A Knockout HEK293 Cell Line | EDJ-KQ1651 | Human | 8394 | Details Get a Quote |
| PIP5K1A Knockout HeLa Cell Line | EDJ-KQ20045 | Human | 8394 | Details Get a Quote |
| PIP5K1A Knockout A-549 Cell Line | EDJ-KQ21393 | Human | 8394 | Details Get a Quote |
| PIP5K1A Knockout HCT 116 Cell Line | EDJ-KQ21394 | Human | 8394 | Details Get a Quote |
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