PITPNC1 Gene
Phosphatidylinositol Transfer Protein, Cytoplasmic 1
Gene Information Card
| Symbol | PITPNC1 |
|---|---|
| Full Name | Phosphatidylinositol Transfer Protein, Cytoplasmic 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 26207 ncbi.nlm.nih.gov/gene/26207 |
| Ensembl ID | ENSG00000108433 |
| UniProt ID | Q9UKG4 |
| OMIM ID | 609901 |
| HGNC ID | 21045 |
| Aliases | PITPNC1, PITPNC, RDGBB, M-RDG-B, M-RDG-B1 |
Description
PITPNC1 encodes a cytoplasmic phosphatidylinositol transfer protein that binds and transfers phosphatidylinositol and phosphatidylcholine between membranes. It is involved in lipid metabolism, vesicular trafficking, and signal transduction. The gene is located on chromosome 17q11.2 and is associated with cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes metastasis via lipid signaling | PMID: 25691811 |
| Colorectal cancer | Upregulation linked to poor prognosis | PMID: 28991257 |
| Melanoma | Enhanced expression correlates with invasion | PMID: 30356049 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 15.1 | Medium |
| Liver | 6.7 | Low |
| Lung | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.2 | Moderate expression |
| HCT116 (colorectal cancer) | 22.5 | High expression |
| A375 (melanoma) | 14.8 | Moderate expression |
| HEK293 (embryonic kidney) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.02% | Unknown functional effect |
| c.452A>G (p.Asn151Ser) | Missense | 0.01% | Unknown functional effect |
| c.788G>A (p.Arg263Gln) | Missense | 0.03% | Unknown functional effect |
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 dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phospholipid transport (Reactome: R-HSA-1483206)
• Golgi vesicle transport (Reactome: R-HSA-199977)
Protein Summary
The PITPNC1 protein (UniProt Q9UKG4) is a 330-amino acid cytoplasmic phosphatidylinositol transfer protein. It contains a PITP domain that binds and transfers phosphatidylinositol and phosphatidylcholine between membrane compartments. The protein is involved in lipid homeostasis, vesicular trafficking, and signaling. Overexpression in several cancers suggests a role in tumor progression and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PITPNC1 Knockout HEK293 Cell Line | EDJ-KQ8455 | Human | 26207 | Details Get a Quote |
| PITPNC1 Knockout HeLa Cell Line | EDJ-KQ33247 | Human | 26207 | Details Get a Quote |
| PITPNC1 Knockout A-549 Cell Line | EDJ-KQ34571 | Human | 26207 | Details Get a Quote |
| PITPNC1 Knockout HCT 116 Cell Line | EDJ-KQ34572 | Human | 26207 | Details Get a Quote |
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