DGKZ: Diacylglycerol Kinase Zeta
A key regulator of diacylglycerol signaling in immune and neuronal cells
Gene Information Card
| Symbol | DGKZ |
|---|---|
| Full Name | Diacylglycerol Kinase Zeta |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 8525 ncbi.nlm.nih.gov/gene/8525 |
| Ensembl ID | ENSG00000149091 |
| UniProt ID | Q13574 |
| OMIM ID | 601441 |
| HGNC ID | 2859 |
| Aliases | DGKzeta, DAGK5, DAGKzeta |
Description
DGKZ encodes diacylglycerol kinase zeta, a member of the type IV diacylglycerol kinase family. This enzyme phosphorylates diacylglycerol (DAG) to phosphatidic acid, thereby attenuating DAG-mediated signaling pathways, including those involving protein kinase C and RasGRP. DGKZ is involved in immune cell activation, neuronal signaling, and cell proliferation. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered DGKZ expression may disrupt DAG signaling, promoting tumor growth | PMID: 25720465 |
| Colorectal cancer | DGKZ downregulation linked to increased DAG levels and PKC activation | PMID: 28611238 |
| Immunodeficiency | DGKZ deficiency impairs T cell receptor signaling and immune response | PMID: 23300459 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Liver | 6.1 | Low |
| Testis | 15.2 | High |
| Spleen | 9.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | Embryonic kidney cells |
| K562 | 7.8 | Leukemia cells |
| HepG2 | 5.4 | Hepatocellular carcinoma cells |
| Jurkat | 11.2 | T cell leukemia cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function; premature stop |
| c.890A>G (p.Asn297Ser) | Missense | Unknown | Potential impact on kinase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) result in truncated, non-functional DGKZ protein, impairing DAG phosphorylation and downstream signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported in DGKZ.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for DGKZ.
View complete mutation data:
Gene Ontology (GO)
| • diacylglycerol kinase activity (GO:0004143) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • protein kinase C-activating G protein-coupled receptor signaling pathway (GO:0007205) |
| • phosphorylation (GO:0016310) | • phosphatidylinositol-mediated signaling (GO:0048015) |
Pathways
• Diacylglycerol (DAG) signaling
• Phosphatidylinositol signaling system
• T cell receptor signaling pathway
• Ras signaling pathway
Protein Summary
Diacylglycerol kinase zeta (DGKZ) is a 1048-amino acid protein containing a catalytic domain, two zinc finger-like C1 domains, and a nuclear localization signal. It converts DAG to phosphatidic acid, regulating DAG-dependent signaling. DGKZ is expressed in brain, immune tissues, and testis. It plays roles in T cell activation, neuronal plasticity, and cancer cell proliferation. Mutations leading to loss of function are associated with immune dysfunction and potential tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGKZ Knockout HEK293 Cell Line | EDJ-KQ17868 | Human | 8525 | Details Get a Quote |
| DGKZ Knockout A-549 Cell Line | EDJ-KQ21496 | Human | 8525 | Details Get a Quote |
| DGKZ Knockout HCT 116 Cell Line | EDJ-KQ21497 | Human | 8525 | Details Get a Quote |
| DGKZ Knockout HeLa Cell Line | EDJ-KQ21498 | Human | 8525 | Details Get a Quote |
| DGKZ Knockout Jurkat Cell Line | EDJ-KZ185 | Human | 8525 | Details Get a Quote |
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