PPIE Gene - Peptidylprolyl Isomerase E
Comprehensive genomic and functional analysis of PPIE (Cyclophilin E) in human health and disease
Gene Information Card
| Symbol | PPIE |
|---|---|
| Full Name | Peptidylprolyl Isomerase E |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 10450 ncbi.nlm.nih.gov/gene/10450 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q9UNP9 |
| OMIM ID | 606095 |
| HGNC ID | 9258 |
| Aliases | CYP33, cyclophilin E, PPIase E |
Description
PPIE (peptidylprolyl isomerase E) encodes a member of the cyclophilin family of proteins, which catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and proteins. This enzyme is a component of the spliceosome complex and plays a role in pre-mRNA splicing. It also interacts with the retinoblastoma protein (RB1) and may influence cell cycle regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered PPIE expression may affect splicing of cancer-related genes; potential role in tumorigenesis | COSMIC, literature |
| Colorectal cancer | Mutations and expression changes observed in tumor samples | COSMIC |
| Lung cancer | Somatic mutations and copy number alterations reported | COSMIC |
| Prostate cancer | Expression dysregulation linked to disease progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.1 | Medium |
| Lymph node | 20.3 | Medium |
| Spleen | 18.7 | Medium |
| Bone marrow | 16.2 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 22.5 | Leukemia cell line |
| HeLa | 19.8 | Cervical carcinoma |
| A549 | 17.3 | Lung carcinoma |
| MCF7 | 15.6 | Breast carcinoma |
| HEK293 | 14.2 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.R88W | Missense | <0.1% | Unknown functional impact |
| p.G120V | Missense | <0.1% | Unknown functional impact |
| p.E142K | Missense | <0.1% | Unknown functional impact |
| c.456+1G>A | Splice site | <0.1% | Likely splice disruption |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
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)
| • peptidyl-prolyl cis-trans isomerase activity (GO:0003755) | • protein binding (GO:0005515) |
| • mRNA processing (GO:0006397) | • RNA splicing (GO:0008380) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• Spliceosome (Reactome: R-HSA-72163)
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72172)
Protein Summary
PPIE encodes cyclophilin E (CYP33), a 33 kDa peptidylprolyl isomerase localized to the nucleus. It contains an N-terminal RNA-binding domain and a C-terminal cyclophilin domain. The protein is a component of the U2 snRNP complex and participates in pre-mRNA splicing. It also interacts with the retinoblastoma protein, suggesting a role in cell cycle control. PPIE is widely expressed, with highest levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPIE Knockout HEK293 Cell Line | EDJ-KQ50973 | Human | 10450 | Details Get a Quote |
| PPIE Knockout HeLa Cell Line | EDJ-KQ55411 | Human | 10450 | Details Get a Quote |
| PPIE Knockout A-549 Cell Line | EDJ-KQ63892 | Human | 10450 | Details Get a Quote |
| PPIE Knockout HCT 116 Cell Line | EDJ-KQ72349 | Human | 10450 | Details Get a Quote |
