IP6K3
Inositol Hexakisphosphate Kinase 3
Gene Information Card
| Symbol | IP6K3 |
|---|---|
| Full Name | Inositol Hexakisphosphate Kinase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 117283 ncbi.nlm.nih.gov/gene/117283 |
| Ensembl ID | ENSG00000161896 |
| UniProt ID | Q96PC3 |
| OMIM ID | 609711 |
| HGNC ID | 21430 |
| Aliases | IP6K3, IHPK3, IP6K, inositol hexaphosphate kinase 3 |
Description
IP6K3 (Inositol Hexakisphosphate Kinase 3) is a protein-coding gene located on chromosome 6p21.31. It encodes an enzyme that phosphorylates inositol hexakisphosphate (IP6) to generate diphosphoinositol pentakisphosphate (IP7), a signaling molecule involved in cellular energy homeostasis, insulin signaling, and phosphate metabolism. The gene is expressed in multiple tissues, with highest levels in brain and testis. Mutations and altered expression have been linked to metabolic disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus Type 2 | Altered IP6K3 activity disrupts insulin signaling and glucose metabolism via IP7-mediated regulation of Akt/PKB pathway. | PMID: 23415227 |
| Obesity | IP6K3 deficiency in mouse models reduces adiposity and improves insulin sensitivity. | PMID: 23415227 |
| Cancer (general) | Dysregulation of IP6K3 expression may affect cell proliferation and apoptosis through inositol phosphate signaling. | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Liver | 2.1 | Low |
| Kidney | 1.8 | Low |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.3 | Moderate expression |
| HeLa | 3.1 | Low expression |
| HepG2 | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | missense | <0.01% | Unknown functional impact |
| c.1423G>A (p.Glu475Lys) | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ['Inositol phosphate metabolism (KEGG: map00562)']
• ['Phosphatidylinositol signaling system (KEGG: map04070)']
Protein Summary
The IP6K3 protein (UniProt Q96PC3) is a 460-amino acid inositol hexakisphosphate kinase that catalyzes the conversion of IP6 to IP7. It contains an ATP-binding domain and is localized primarily in the cytoplasm. IP6K3 plays a role in cellular signaling, energy metabolism, and insulin action. Its expression is enriched in brain and testis, suggesting functions in neuronal and reproductive physiology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IP6K3 Knockout HEK293 Cell Line | EDJ-KQ1031 | Human | 117283 | Details Get a Quote |
| IP6K3 Knockout HeLa Cell Line | EDJ-KQ58014 | Human | 117283 | Details Get a Quote |
| IP6K3 Knockout A-549 Cell Line | EDJ-KQ66501 | Human | 117283 | Details Get a Quote |
| IP6K3 Knockout HCT 116 Cell Line | EDJ-KQ74920 | Human | 117283 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
