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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDIPT
CDP-diacylglycerol--inositol 3-phosphatidyltransferase
Chromosome 16 · 16p11.2
NCBI Gene: 10423Ensembl: ENSG00000103502.15HGNC: HGNC:1769UniProt: A8K3L7
90PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
CDP-diacylglycerol-inositol 3-phosphatidyltransferase activityprotein bindingphosphatidylinositol biosynthetic processmembraneneurodegenerative diseasecolorectal carcinomapyogenic granulomaoral squamous cell carcinoma
✦AI Summary

CDIPT (CDP-diacylglycerol--inositol 3-phosphatidyltransferase) catalyzes the biosynthesis of phosphatidylinositol (PtdIns), the foundational lipid for all phosphoinositide species 1. The enzyme is localized to the endoplasmic reticulum and participates in autophagosome formation by being enriched in ER subdomains involved in phospholipid synthesis 2. Loss of CDIPT function results in severe cellular pathology, as demonstrated in zebrafish mutants that develop intestinal mucosal injury characterized by ER-Golgi disruption, mitochondrial depletion, and chr16 ER stress-mediated inflammation 3. While CDIPT deficiency does not prevent early myogenesis, it impairs triad formation in skeletal muscle, resulting in smaller T-tubule areas and decreased motor performance 1. The gene shows clinical significance in multiple disease contexts: CDIPT mutations are associated with resistance to AKT inhibitor therapy in cancer patients 4, and the gene is identified as a target of miR-20a-5p in psoriasis-obesity comorbidity 5. Additionally, CDIPT expression is upregulated in oral premalignant lesions and squamous cell carcinomas of smokeless tobacco users 6, suggesting roles in both metabolic disorders and carcinogenesis through dysregulated phosphoinositide signaling pathways.

Sources cited
1
CDIPT catalyzes PtdIns formation and is required for triad formation but not myogenesis
PMID: 32804943
2
CDIPT is enriched in ER subdomains involved in autophagosome formation
PMID: 33087127
3
CDIPT loss causes ER stress-mediated intestinal inflammation and cellular pathology
PMID: 24135483
4
CDIPT mutations are associated with resistance to AKT inhibitor therapy
PMID: 40153687
5
CDIPT is targeted by miR-20a-5p in psoriasis-obesity comorbidity
PMID: 41519831
6
CDIPT is upregulated in oral premalignant lesions and carcinomas
PMID: 16730401
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.22Weak
colorectal carcinomaOpen Targets
0.15Weak
pyogenic granulomaOpen Targets
0.09Suggestive
oral squamous cell carcinomaOpen Targets
0.07Suggestive
response to xenobiotic stimulusOpen Targets
0.06Suggestive
PainOpen Targets
0.05Suggestive
eye diseaseOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.02Suggestive
leukoplakiaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
retinal degenerationOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
cataractOpen Targets
0.01Suggestive
thyroid cancerOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
alpha 1-antitrypsin deficiencyOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PI4KBProtein interaction99%CDS1Protein interaction99%CDS2Protein interaction99%PI4KAProtein interaction98%PGS1Protein interaction97%TAMM41Protein interaction96%
Tissue Expression6 tissues
Ovary
100%
Liver
98%
Heart
78%
Lung
65%
Brain
62%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
CDIPTPI4KBCDS1CDS2PI4KAPGS1TAMM41
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O14735
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.40–1.04]
RankingsWhere CDIPT stands among ~20K protein-coding genes
  • #5,293of 20,598
    Most Researched90
  • #10,388of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedCDIPT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis.
PMID: 32804943
PLoS One · 2020
1.00
2
Autophagosome formation in relation to the endoplasmic reticulum.
PMID: 33087127
J Biomed Sci · 2020
0.90
3
Dysregulated phosphatidylinositol signaling promotes endoplasmic-reticulum-stress-mediated intestinal mucosal injury and inflammation in zebrafish.
PMID: 24135483
Dis Model Mech · 2014
0.80
4
Modeling Inflammation in Zebrafish for the Development of Anti-inflammatory Drugs.
PMID: 33520995
Front Cell Dev Biol · 2020
0.70
5
Identification of key miRNAs and target genes in psoriasis vulgaris and obesity co-morbidity.
PMID: 41519831
Eur J Med Res · 2026
0.60