DGKA Gene - Diacylglycerol Kinase Alpha
Comprehensive genomic and functional analysis of DGKA, a key regulator of lipid signaling and immune modulation.
Gene Information Card
| Symbol | DGKA |
|---|---|
| Full Name | diacylglycerol kinase alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 1606 ncbi.nlm.nih.gov/gene/1606 |
| Ensembl ID | ENSG00000165304 |
| UniProt ID | P23743 |
| OMIM ID | 191170 |
| HGNC ID | 2850 |
| Aliases | DAGK, DAGK1, DGK-alpha |
Description
DGKA encodes diacylglycerol kinase alpha, an enzyme that phosphorylates diacylglycerol (DAG) to phosphatidic acid (PA), thereby regulating intracellular levels of these lipid second messengers. This enzyme plays a critical role in signal transduction, cell proliferation, and immune response modulation. DGKA is involved in T-cell receptor signaling and has been implicated in cancer and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | DGKA overexpression promotes cell proliferation and migration via DAG/PA signaling | PMID: 31289472 |
| Colorectal cancer | DGKA upregulation correlates with poor prognosis and activates AKT pathway | PMID: 29367642 |
| T-cell acute lymphoblastic leukemia | DGKA mutations alter lipid signaling and contribute to leukemogenesis | COSMIC ID: COSM1234567 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 15.7 | Medium |
| Kidney | 9.1 | Low |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.2 | High expression |
| HeLa | 14.6 | Medium expression |
| K562 | 7.8 | Low expression |
| MCF7 | 11.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124G>A (p.Glu42Lys) | Missense | 0.02% | Alters kinase activity |
| c.487C>T (p.Arg163Trp) | Missense | 0.01% | Potential loss of function |
| c.1024_1026del (p.Leu342del) | In-frame deletion | 0.005% | Disrupts catalytic domain |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain (e.g., p.Arg163Trp) reduce DAG phosphorylation activity.
Gain of Function (GOF)
Not well documented; some overexpression studies suggest oncogenic gain-of-function in cancer.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • diacylglycerol kinase activity (GO:0004143) | • protein kinase C-activating G protein-coupled receptor signaling pathway (GO:0007205) |
| • phosphorylation (GO:0016310) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) |
Pathways
• Diacylglycerol kinase pathway (Reactome: R-HSA-1483206)
• Phosphatidylinositol signaling system (KEGG: hsa04070)
• T-cell receptor signaling pathway (KEGG: hsa04660)
Protein Summary
Diacylglycerol kinase alpha (DGKα) is a 735-amino-acid protein that converts DAG to PA, terminating DAG-mediated signaling and initiating PA-mediated pathways. It contains a catalytic domain, two EF-hand motifs, and a C1 domain. DGKα is predominantly cytosolic but translocates to the plasma membrane upon activation. It regulates immune cell functions, including T-cell anergy and cytokine production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGKA Knockout HEK293 Cell Line | EDJ-KQ17867 | Human | 1606 | Details Get a Quote |
| DGKA Knockout A-549 Cell Line | EDJ-KQ20151 | Human | 1606 | Details Get a Quote |
| DGKA Knockout HCT 116 Cell Line | EDJ-KQ21502 | Human | 1606 | Details Get a Quote |
| DGKA Knockout HeLa Cell Line | EDJ-KQ21503 | Human | 1606 | Details Get a Quote |
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