CDS1 (CDP-Diacylglycerol Synthase 1)
Key enzyme in phospholipid biosynthesis and signaling
Gene Information Card
| Symbol | CDS1 |
|---|---|
| Full Name | CDP-diacylglycerol synthase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q21.23 |
| NCBI Gene ID | 1040 ncbi.nlm.nih.gov/gene/1040 |
| Ensembl ID | ENSG00000163684 |
| UniProt ID | Q92903 |
| OMIM ID | 603548 |
| HGNC ID | 1792 |
| Aliases | CDS, CDS1, CDP-DAG synthase 1, phosphatidate cytidylyltransferase 1 |
Description
CDS1 encodes CDP-diacylglycerol synthase 1, an enzyme that catalyzes the conversion of phosphatidic acid to CDP-diacylglycerol, a key intermediate in the biosynthesis of phosphatidylinositol and other phospholipids. This gene is involved in lipid metabolism and cellular signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia | Loss-of-function mutations impair phospholipid synthesis, leading to axonal degeneration | ClinVar, OMIM |
| Cancer (various) | Altered expression and mutations affect lipid signaling, promoting tumor growth | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.1 | High |
| Heart | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 10.2 | Medium expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.742C>T (p.Arg248*) | Nonsense | <0.1% | Loss of function |
| c.1045G>A (p.Gly349Arg) | Missense | 0.2% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidate cytidylyltransferase activity (GO:0004602) | • phospholipid biosynthetic process (GO:0008654) |
| • membrane (GO:0016020) | • endoplasmic reticulum (GO:0005783) |
Pathways
• Phosphatidylinositol biosynthesis (Reactome R-HSA-1483206)
• Glycerophospholipid metabolism (KEGG hsa00564)
Protein Summary
CDS1 is a 461-amino acid integral membrane protein localized to the endoplasmic reticulum. It catalyzes the rate-limiting step in phosphatidylinositol synthesis, producing CDP-diacylglycerol from phosphatidic acid. This enzyme is essential for maintaining cellular lipid homeostasis and signaling via phosphoinositides.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDS1 Knockout HEK293 Cell Line | EDJ-KQ1700 | Human | 1040 | Details Get a Quote |
| CDS1 Knockout A-549 Cell Line | EDJ-KQ21516 | Human | 1040 | Details Get a Quote |
| CDS1 Knockout HCT 116 Cell Line | EDJ-KQ21517 | Human | 1040 | Details Get a Quote |
| CDS1 Knockout HeLa Cell Line | EDJ-KQ21518 | Human | 1040 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
