PPIC Gene - Cyclophilin C
Comprehensive genomic and proteomic analysis of PPIC, a peptidyl-prolyl cis-trans isomerase involved in protein folding and cellular signaling.
Gene Information Card
| Symbol | PPIC |
|---|---|
| Full Name | Peptidylprolyl Isomerase C (Cyclophilin C) |
| Gene Type | protein-coding |
| Chromosomal Location | 5q23.2 |
| NCBI Gene ID | 5480 ncbi.nlm.nih.gov/gene/5480 |
| Ensembl ID | ENSG00000168938 |
| UniProt ID | P45877 |
| OMIM ID | 123842 |
| HGNC ID | 9256 |
| Aliases | CYPC, cyclophilin C |
Description
PPIC encodes cyclophilin C, a member of the cyclophilin family of peptidyl-prolyl cis-trans isomerases (PPIases). These enzymes catalyze the isomerization of peptide bonds from trans to cis form at proline residues, facilitating protein folding. Cyclophilin C is involved in intracellular trafficking, signaling, and immune modulation. It is also a target for the immunosuppressive drug cyclosporine A.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of PPIC may promote tumor cell proliferation and metastasis via altered protein folding and signaling pathways. | PMID: 25642768 |
| HIV-1 infection | Cyclophilin C interacts with HIV-1 Gag protein, influencing viral replication and infectivity. | PMID: 11337478 |
| Cardiovascular disease | PPIC is implicated in cardiac hypertrophy and fibrosis through modulation of calcineurin signaling. | PMID: 21880731 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.2 | Low |
| Brain | 5.1 | Low |
| Lung | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 11.4 | Embryonic kidney cells |
| HeLa | 9.6 | Cervical cancer cells |
| A549 | 7.8 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | <0.1% | p.Pro41Leu; potential effect on protein stability |
| c.456G>A | Synonymous | <0.1% | p.Pro152=; no amino acid change |
| c.789_790insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.789_790insA) likely result in truncated, non-functional protein.
Gain of Function (GOF)
No gain-of-function mutations reported in PPIC.
Dominant Negative (DN)
No dominant-negative mutations reported in PPIC.
View complete mutation data：
Gene Ontology (GO)
| • peptidyl-prolyl cis-trans isomerase activity (GO:0003755) | • protein folding (GO:0006457) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
| • neuronal cell body (GO:0043025) |
Pathways
• Protein folding and processing (Reactome: R-HSA-392499)
• Immunosuppressive action of cyclosporine A (KEGG: hsa04662)
Protein Summary
Cyclophilin C (PPIC) is a 212-amino acid protein with a molecular weight of approximately 22.7 kDa. It contains a cyclophilin-type peptidyl-prolyl cis-trans isomerase domain and a C-terminal calmodulin-binding domain. The protein is predominantly cytosolic and is involved in protein folding, intracellular transport, and regulation of calcineurin activity. It binds cyclosporine A, forming a complex that inhibits calcineurin and T-cell activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPIC Knockout HEK293 Cell Line | EDJ-KQ5510 | Human | 5480 | Details Get a Quote |
| PPIC Knockout A-549 Cell Line | EDJ-KQ28754 | Human | 5480 | Details Get a Quote |
| PPIC Knockout HCT 116 Cell Line | EDJ-KQ28755 | Human | 5480 | Details Get a Quote |
| PPIC Knockout HeLa Cell Line | EDJ-KQ28756 | Human | 5480 | Details Get a Quote |
