IP6K1
Inositol Hexakisphosphate Kinase 1
Gene Information Card
| Symbol | IP6K1 |
|---|---|
| Full Name | Inositol Hexakisphosphate Kinase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 9807 ncbi.nlm.nih.gov/gene/9807 |
| Ensembl ID | ENSG00000176095 |
| UniProt ID | Q9Y2I7 |
| OMIM ID | 606991 |
| HGNC ID | 17295 |
| Aliases | PIUS, IHPK1, IP6K |
Description
IP6K1 (Inositol Hexakisphosphate Kinase 1) is a protein-coding gene that encodes an enzyme responsible for the conversion of inositol hexakisphosphate (IP6) to diphosphoinositol pentakisphosphate (IP7). This kinase plays a critical role in cellular signaling, including insulin secretion, phosphate homeostasis, and energy metabolism. IP6K1 is implicated in various diseases such as diabetes, cancer, and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes mellitus type 2 | IP6K1 regulates insulin secretion via IP7 modulation of exocytosis | PMID: 20018752 |
| Hepatocellular carcinoma | Overexpression promotes cell proliferation and migration | PMID: 29187786 |
| Alzheimer disease | IP6K1 influences tau phosphorylation and amyloid-beta production | PMID: 26912633 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Liver | 8.5 | Medium |
| Pancreas | 12.1 | High |
| Kidney | 7.3 | Medium |
| Heart | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression |
| HepG2 | 11.2 | Moderate expression |
| SH-SY5Y | 9.8 | Moderate expression |
| MCF7 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378Trp) | Missense | 0.001% (gnomAD) | Reduced kinase activity |
| c.1465G>A (p.Glu489Lys) | Missense | 0.0005% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
p.Arg378Trp reduces catalytic activity, impairing IP7 production.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Inositol phosphate metabolism (KEGG: hsa00562)
• Phosphatidylinositol signaling system (KEGG: hsa04070)
Protein Summary
The IP6K1 protein (UniProt Q9Y2I7) is a 459-amino acid inositol hexakisphosphate kinase that catalyzes the phosphorylation of IP6 to IP7. It contains an N-terminal kinase domain and is localized to both the nucleus and cytoplasm. IP6K1 regulates cellular phosphate and energy homeostasis, and its dysregulation is linked to metabolic and neurological diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IP6K1 Knockout HEK293 Cell Line | EDJ-KQ1685 | Human | 9807 | Details Get a Quote |
| IP6K1 Knockout A-549 Cell Line | EDJ-KQ21474 | Human | 9807 | Details Get a Quote |
| IP6K1 Knockout HCT 116 Cell Line | EDJ-KQ21475 | Human | 9807 | Details Get a Quote |
| IP6K1 Knockout HeLa Cell Line | EDJ-KQ21476 | Human | 9807 | Details Get a Quote |
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