ITPKA: Inositol 1,4,5-Trisphosphate 3-Kinase A
Key regulator of IP3 signaling and calcium dynamics
Gene Information Card
| Symbol | ITPKA |
|---|---|
| Full Name | Inositol 1,4,5-Trisphosphate 3-Kinase A |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 3706 ncbi.nlm.nih.gov/gene/3706 |
| Ensembl ID | ENSG00000137825 |
| UniProt ID | Q14722 |
| OMIM ID | 147521 |
| HGNC ID | 6178 |
| Aliases | IP3K-A, IP3KA, IP3-3KA |
Description
ITPKA encodes inositol 1,4,5-trisphosphate 3-kinase A, an enzyme that phosphorylates inositol 1,4,5-trisphosphate (IP3) to inositol 1,3,4,5-tetrakisphosphate (IP4). This reaction terminates IP3-mediated calcium release from intracellular stores, thereby regulating calcium signaling. ITPKA is highly expressed in brain and plays roles in neuronal plasticity, cell proliferation, and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington disease | Altered ITPKA expression disrupts calcium homeostasis in striatal neurons | PMID: 22956720 |
| Breast cancer | ITPKA overexpression promotes cell migration and invasion via IP3 signaling | PMID: 25605248 |
| Epilepsy | ITPKA variants linked to altered neuronal excitability | ClinVar SCV000803123 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 12.3 | Medium |
| Lung | 4.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.8 | Neuronal model |
| HEK293 | 6.2 | Low expression |
| MCF7 | 22.1 | Breast cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.001% | Reduced kinase activity |
| c.487G>A (p.Gly163Arg) | Missense | 0.0005% | Unknown functional effect |
| c.1240C>T (p.Arg414*) | Nonsense | <0.0001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that reduce or abolish IP3 kinase activity, impairing calcium signal termination.
Gain of Function (GOF)
Not well documented; overexpression in cancer may mimic gain-of-function.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylinositol signaling system (KEGG: hsa04070)
• Inositol phosphate metabolism (KEGG: hsa00562)
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
ITPKA is a 461-amino acid protein with an N-terminal calmodulin-binding domain and a C-terminal catalytic domain. It converts IP3 to IP4, reducing IP3 levels and terminating calcium release from the endoplasmic reticulum. The enzyme is regulated by calcium/calmodulin and phosphorylation. ITPKA is predominantly expressed in brain and testis, and its dysregulation is implicated in neurodegenerative diseases and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITPKA Knockout HEK293 Cell Line | EDJ-KQ50400 | Human | 3706 | Details Get a Quote |
| ITPKA Knockout HeLa Cell Line | EDJ-KQ53688 | Human | 3706 | Details Get a Quote |
| ITPKA Knockout A-549 Cell Line | EDJ-KQ62165 | Human | 3706 | Details Get a Quote |
| ITPKA Knockout HCT 116 Cell Line | EDJ-KQ70652 | Human | 3706 | Details Get a Quote |
