PIP5K1B Gene: Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Beta
A comprehensive biomedical resource on PIP5K1B, covering gene structure, function, expression, and disease associations.
Gene Information Card
| Symbol | PIP5K1B |
|---|---|
| Full Name | phosphatidylinositol-4-phosphate 5-kinase type 1 beta |
| Gene Type | protein coding |
| Chromosomal Location | 9q13.3 |
| NCBI Gene ID | 8395 ncbi.nlm.nih.gov/gene/8395 |
| Ensembl ID | ENSG00000107281 |
| UniProt ID | O14986 |
| OMIM ID | 602756 |
| HGNC ID | 8995 |
| Aliases | PIP5K1B, PIP5K-beta, STM7, KIAA0277 |
Description
PIP5K1B encodes phosphatidylinositol-4-phosphate 5-kinase type 1 beta, an enzyme that catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PI4P) to generate phosphatidylinositol 4,5-bisphosphate (PIP2), a key lipid signaling molecule. PIP2 is involved in various cellular processes including signal transduction, cytoskeletal organization, vesicular trafficking, and ion channel regulation. The gene is located on chromosome 9q13.3 and is expressed in multiple tissues, with highest levels in the brain and testis. Mutations and dysregulation of PIP5K1B have been implicated in neurological disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual Disability | Loss-of-function mutations in PIP5K1B impair PIP2 synthesis, affecting neuronal signaling and synaptic function. | ClinVar: Pathogenic variants reported in patients with intellectual disability. |
| Epilepsy | Disruption of PIP2 metabolism alters ion channel activity and neuronal excitability, contributing to seizure susceptibility. | ClinVar: Variants associated with epilepsy phenotypes. |
| Cancer | Altered PIP5K1B expression affects PI3K/AKT signaling, promoting tumor growth and metastasis in certain cancers. | COSMIC: Somatic mutations and copy number alterations observed in various cancer types. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.2 | High |
| Testis | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Liver | 5.1 | Low |
| Kidney | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression; used in neuronal studies. |
| A549 (lung carcinoma) | 7.8 | Moderate expression; relevant to cancer research. |
| HepG2 (hepatocellular carcinoma) | 4.2 | Low expression; liver model. |
| MCF7 (breast carcinoma) | 6.5 | Moderate expression; breast cancer model. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare (0.01% in gnomAD) | Loss of function; associated with intellectual disability. |
| c.567_568del (p.Glu190fs) | Frameshift | Not reported in population databases | Loss of function; likely pathogenic. |
| c.890A>G (p.Asp297Gly) | Missense | Somatic in COSMIC (0.5% in cancer samples) | Potential gain of function; may enhance PIP2 production in tumors. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (nonsense, frameshift) reduce PIP5K1B enzymatic activity, leading to decreased PIP2 levels. This impairs neuronal signaling and is associated with intellectual disability and epilepsy.
Gain of Function (GOF)
Gain-of-function mutations (e.g., missense variants) may increase PIP5K1B activity, elevating PIP2 production. This can hyperactivate PI3K/AKT signaling, promoting cancer cell proliferation and survival.
Dominant Negative (DN)
Dominant-negative mutations are not well-documented for PIP5K1B. However, some missense variants may interfere with dimerization or substrate binding, potentially exerting a dominant-negative effect on the wild-type allele.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-4-phosphate 5-kinase activity | • ATP binding |
| • phosphatidylinositol binding | • phosphatidylinositol phosphate kinase activity |
| • signal transduction | • phosphatidylinositol biosynthetic process |
| • regulation of cell migration | • actin cytoskeleton organization |
| • vesicle-mediated transport |
Pathways
• Phosphatidylinositol signaling system
• Inositol phosphate metabolism
• Fc gamma R-mediated phagocytosis
• Regulation of actin cytoskeleton
• PI3K-Akt signaling pathway
Protein Summary
The PIP5K1B protein is a 546-amino acid enzyme with a molecular weight of approximately 61 kDa. It contains a lipid kinase domain and a dimerization domain. The enzyme primarily localizes to the plasma membrane and endosomal compartments, where it converts PI4P to PIP2. PIP5K1B activity is regulated by small GTPases and phosphorylation. It plays a critical role in receptor-mediated signaling, synaptic vesicle recycling, and cell adhesion. Structural studies reveal a conserved catalytic core, and mutations in this domain can disrupt enzymatic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIP5K1B Knockout HEK293 Cell Line | EDJ-KQ1652 | Human | 8395 | Details Get a Quote |
| PIP5K1B Knockout HeLa Cell Line | EDJ-KQ21396 | Human | 8395 | Details Get a Quote |
| PIP5K1B Knockout A-549 Cell Line | EDJ-KQ63385 | Human | 8395 | Details Get a Quote |
| PIP5K1B Knockout HCT 116 Cell Line | EDJ-KQ71853 | Human | 8395 | Details Get a Quote |
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