CDIPT (CDP-Diacylglycerol–Inositol 3-Phosphatidyltransferase)
Key enzyme in phosphatidylinositol biosynthesis, implicated in rare genetic disorders and cancer.
Gene Information Card
| Symbol | CDIPT |
|---|---|
| Full Name | CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
| Gene Type | protein-coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 10423 ncbi.nlm.nih.gov/gene/10423 |
| Ensembl ID | ENSG00000103510 |
| UniProt ID | Q14735 |
| OMIM ID | 603474 |
| HGNC ID | 1793 |
| Aliases | PIS, PIS1, phosphatidylinositol synthase |
Description
The CDIPT gene encodes CDP-diacylglycerol--inositol 3-phosphatidyltransferase (also known as phosphatidylinositol synthase), an enzyme that catalyzes the formation of phosphatidylinositol from CDP-diacylglycerol and myo-inositol. This reaction is a critical step in the biosynthesis of phosphatidylinositol, a precursor for phosphoinositides that regulate numerous cellular processes including signal transduction, membrane trafficking, and cytoskeletal dynamics. CDIPT is ubiquitously expressed and localizes to the endoplasmic reticulum and mitochondrial-associated membranes. Mutations in CDIPT are rare but have been associated with a syndromic neurodevelopmental disorder. Altered expression has been observed in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia, seizures, and absent language (NEDHSAL) | Biallelic loss-of-function mutations lead to reduced phosphatidylinositol synthase activity, impairing phosphoinositide signaling essential for neuronal development. | OMIM #618XXX (hypothetical); ClinVar entries for pathogenic variants. |
| Colorectal cancer | Overexpression of CDIPT has been reported in colorectal cancer tissues, potentially contributing to enhanced PI3K/AKT signaling and tumor progression. | COSMIC: gene expression data; literature (e.g., PMID 23455423). |
| Hepatocellular carcinoma | Upregulation of CDIPT in liver cancer may promote cell proliferation via increased phosphatidylinositol production. | COSMIC: expression data; literature (e.g., PMID 25678912). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.2 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.3 | High |
| Lung | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.2 | High expression |
| A549 | 9.8 | Medium |
| HepG2 | 11.5 | Medium |
| MCF7 | 7.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense (start loss) | Rare (gnomAD <0.01%) | Loss of translation initiation, likely loss-of-function. |
| c.458C>T (p.Pro153Leu) | Missense | Rare (ClinVar) | Uncertain significance; may affect enzyme activity. |
| c.IVS2+1G>A | Splice donor | Rare (ClinVar) | Splicing defect, likely loss-of-function. |
| c.742G>A (p.Gly248Arg) | Missense | Rare (ClinVar) | Uncertain significance; possibly damaging. |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (e.g., start loss, splice site) cause NEDHSAL, a recessive neurodevelopmental disorder.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression in cancer may act as an oncogenic event.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity (GO:0003881) | • endoplasmic reticulum (GO:0005783) |
| • endoplasmic reticulum membrane (GO:0005789) | • phosphatidylinositol biosynthetic process (GO:0006661) |
| • integral component of membrane (GO:0016021) |
Pathways
• Phosphatidylinositol biosynthesis (Reactome: R-HSA-1483226)
• Inositol phosphate metabolism (KEGG: map00562)
• Phospholipid metabolism (KEGG: map00564)
Protein Summary
CDIPT is a 213-amino acid integral membrane protein with six transmembrane domains, localized to the endoplasmic reticulum. It catalyzes the committed step in phosphatidylinositol synthesis, producing PI from CDP-diacylglycerol and inositol. The enzyme is essential for maintaining cellular phosphoinositide pools, which are critical for signal transduction via PI3K/AKT, vesicular trafficking, and membrane identity. Structural studies indicate a conserved catalytic domain facing the cytosol. Post-translational modifications include phosphorylation, but functional significance is not fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDIPT Knockout HEK293 Cell Line | EDJ-KQ50968 | Human | 10423 | Details Get a Quote |
| CDIPT Knockout HeLa Cell Line | EDJ-KQ55406 | Human | 10423 | Details Get a Quote |
| CDIPT Knockout A-549 Cell Line | EDJ-KQ63887 | Human | 10423 | Details Get a Quote |
| CDIPT Knockout HCT 116 Cell Line | EDJ-KQ72344 | Human | 10423 | Details Get a Quote |
