PPIL3: Peptidylprolyl Isomerase Like 3
A cyclophilin family member involved in protein folding and cellular signaling
Gene Information Card
| Symbol | PPIL3 |
|---|---|
| Full Name | Peptidylprolyl Isomerase Like 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 53938 ncbi.nlm.nih.gov/gene/53938 |
| Ensembl ID | ENSG00000162923 |
| UniProt ID | Q9H2H8 |
| OMIM ID | 616447 |
| HGNC ID | 19099 |
| Aliases | CYPJ, hCyPJ, ROTASE3 |
Description
PPIL3 encodes a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). These enzymes catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides, facilitating protein folding, assembly, and transport. PPIL3 is localized in the nucleus and may play a role in pre-mRNA splicing and cell cycle regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered PPIL3 expression may affect cell proliferation via cyclophilin-mediated signaling | Expression profiling studies (NCBI GEO) |
| Hepatocellular carcinoma | PPIL3 upregulation correlates with poor prognosis and may promote tumor growth | TCGA data analysis (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.1 | Low |
| Liver | 6.3 | Low |
| Heart | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Embryonic kidney, high expression |
| HeLa | 11.8 | Cervical carcinoma, moderate expression |
| HepG2 | 9.4 | Hepatocellular carcinoma, moderate expression |
| MCF7 | 7.2 | Breast cancer, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.314C>T (p.Pro105Leu) | Missense | <0.01% | Unknown functional impact (ClinVar) |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Predicted damaging (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Protein folding and processing (Reactome: R-HSA-392499)
• Cyclophilin-mediated signaling (KEGG: hsa04141)
Protein Summary
PPIL3 is a 166-amino acid cyclophilin with a conserved PPIase domain. It catalyzes proline isomerization, a rate-limiting step in protein folding. The protein is predominantly nuclear and interacts with splicing factors, suggesting a role in RNA processing. Its expression is highest in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPIL3 Knockout HEK293 Cell Line | EDJ-KQ11371 | Human | 53938 | Details Get a Quote |
| PPIL3 Knockout A-549 Cell Line | EDJ-KQ39561 | Human | 53938 | Details Get a Quote |
| PPIL3 Knockout HCT 116 Cell Line | EDJ-KQ39562 | Human | 53938 | Details Get a Quote |
| PPIL3 Knockout HeLa Cell Line | EDJ-KQ39563 | Human | 53938 | Details Get a Quote |
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