PI4KB: Phosphatidylinositol 4-Kinase Beta – Key Regulator of Golgi Lipid Signaling
Comprehensive gene card for PI4KB, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | PI4KB |
|---|---|
| Full Name | phosphatidylinositol 4-kinase beta |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 5298 ncbi.nlm.nih.gov/gene/5298 |
| Ensembl ID | ENSG00000143384 |
| UniProt ID | Q9UBF8 |
| OMIM ID | 602758 |
| HGNC ID | 8985 |
| Aliases | PI4KIIIbeta, PI4K92, PIK4CB, NPIK, PI4Kbeta |
Description
PI4KB encodes phosphatidylinositol 4-kinase beta, a lipid kinase that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P). This enzyme is primarily localized to the Golgi apparatus and is essential for Golgi-to-plasma membrane trafficking, lipid signaling, and maintaining Golgi structure. PI4KB activity is critical for cellular processes including vesicular transport, signal transduction, and viral replication.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infectious disease (e.g., hepatitis C virus) | PI4KB is hijacked by viruses to generate PI4P-enriched membranes for replication complexes | PMID: 22301126; NCBI Gene |
| Cancer (various) | Altered PI4KB expression may influence PI4P levels and downstream signaling pathways | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 16.5 | Medium |
| Heart | 12.3 | Medium |
| Liver | 8.7 | Low |
| Kidney | 14.1 | Medium |
| Lung | 10.2 | Medium |
| Pancreas | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.2 | Cervical cancer cell line |
| HEK293 | 15.6 | Embryonic kidney cell line |
| HepG2 | 11.3 | Hepatocellular carcinoma cell line |
| A549 | 13.8 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the kinase domain are predicted to abolish PI4P production.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature or databases.
Dominant Negative (DN)
No dominant-negative mutations described for PI4KB.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylinositol phosphate metabolism (Reactome: R-HSA-1483255)
• Golgi vesicle transport (Reactome: R-HSA-199992)
Protein Summary
Phosphatidylinositol 4-kinase beta (PI4KB) is a 92 kDa lipid kinase that localizes to the Golgi apparatus. It contains a lipid kinase domain and a unique N-terminal region involved in membrane association. PI4KB produces PI4P, a key phosphoinositide that recruits effector proteins to the Golgi and regulates membrane trafficking. The enzyme is a target for antiviral drug development, particularly against hepatitis C virus and other positive-strand RNA viruses that depend on PI4P for replication.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PI4KB Knockout HEK293 Cell Line | EDJ-KQ1646 | Human | 5298 | Details Get a Quote |
| PI4KB Knockout HeLa Cell Line | EDJ-KQ20030 | Human | 5298 | Details Get a Quote |
| PI4KB Knockout A-549 Cell Line | EDJ-KQ21378 | Human | 5298 | Details Get a Quote |
| PI4KB Knockout HCT 116 Cell Line | EDJ-KQ21379 | Human | 5298 | Details Get a Quote |
| PI4KB (NC_000001.11:g.151327455G>C) Point Mutation in A-549 Cell Line | EDC03001 | Human | 5298 | Details Get a Quote |
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