CPTP Gene (Ceramide-1-Phosphate Transfer Protein)
Functional and clinical insights into CPTP, a key regulator of sphingolipid trafficking and signaling.
Gene Information Card
| Symbol | CPTP |
|---|---|
| Full Name | Ceramide-1-Phosphate Transfer Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 80724 ncbi.nlm.nih.gov/gene/80724 |
| Ensembl ID | ENSG00000142611 |
| UniProt ID | Q8TCT9 |
| OMIM ID | 617888 |
| HGNC ID | 26199 |
| Aliases | C1P transfer protein, FLJ22662 |
Description
The CPTP gene encodes ceramide-1-phosphate transfer protein, which specifically transfers ceramide-1-phosphate (C1P) between membranes. CPTP regulates intracellular sphingolipid homeostasis and signaling, influencing cell survival, inflammation, and membrane trafficking. It is localized to the Golgi apparatus and cytosol.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered C1P trafficking affects cell proliferation and apoptosis pathways. | PMID: 25645921 |
| Inflammatory disorders | CPTP modulates C1P-mediated activation of cytosolic phospholipase A2 and eicosanoid production. | PMID: 23921378 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Low |
| Liver | 8.7 | Low |
| Kidney | 15.1 | Medium |
| Testis | 22.4 | Medium |
| Lung | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.2 | Embryonic kidney |
| HeLa | 14.5 | Cervical carcinoma |
| HepG2 | 11.0 | Hepatocellular carcinoma |
| A549 | 9.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential start codon loss; functional impact unknown |
| c.215C>T | Missense | <0.01% | p.Pro72Leu; predicted benign by SIFT |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sphingolipid metabolism (Reactome: R-HSA-428157)
• Sphingolipid de novo biosynthesis (Reactome: R-HSA-1660661)
Protein Summary
Ceramide-1-phosphate transfer protein (UniProt Q8TCT9) is a 25 kDa cytosolic and Golgi-associated protein that specifically binds and transfers ceramide-1-phosphate between membranes. It contains a START-like domain and is essential for proper C1P distribution, impacting cell signaling, lipid metabolism, and inflammatory responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPTP Knockout HEK293 Cell Line | EDJ-KQ9568 | Human | 80772 | Details Get a Quote |
| CPTP Knockout A-549 Cell Line | EDJ-KQ36373 | Human | 80772 | Details Get a Quote |
| CPTP Knockout HCT 116 Cell Line | EDJ-KQ36374 | Human | 80772 | Details Get a Quote |
| CPTP Knockout HeLa Cell Line | EDJ-KQ36375 | Human | 80772 | Details Get a Quote |
