PPIAL4E: Peptidylprolyl Isomerase A Like 4E – A Pseudogene-Derived Gene with Potential Roles in Cancer and Genetic Disorders
Explore the genomic context, expression patterns, and clinical significance of PPIAL4E, a member of the cyclophilin A family with emerging links to disease.
Gene Information Card
| Symbol | PPIAL4E |
|---|---|
| Full Name | Peptidylprolyl Isomerase A Like 4E |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 646743 ncbi.nlm.nih.gov/gene/646743 |
| Ensembl ID | ENSG00000269335 |
| UniProt ID | A0A0A0MRZ8 |
| OMIM ID | Not available |
| HGNC ID | 44521 |
| Aliases | PPIAL4E, peptidylprolyl isomerase A (cyclophilin A) like 4E |
Description
PPIAL4E is a protein-coding gene located on chromosome 1q21.1, a region known for copy number variations and segmental duplications. It belongs to the cyclophilin family, which catalyzes the cis-trans isomerization of proline peptide bonds and is involved in protein folding, immune response, and cell signaling. Although initially considered a pseudogene, PPIAL4E has been shown to be transcribed and potentially translated, with expression detected in various tissues and cell lines. Its genomic context suggests possible roles in developmental processes and disease, particularly in cancer and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | PPIAL4E is located in a region frequently amplified in various cancers; overexpression may contribute to tumorigenesis via cyclophilin-related pathways. | COSMIC database lists PPIAL4E among genes with copy number alterations in cancer samples. |
| Neurodevelopmental disorders | Copy number variations in the 1q21.1 region, including PPIAL4E, are associated with microdeletion/microduplication syndromes. | ClinVar entries for 1q21.1 deletions/duplications include PPIAL4E in the critical region. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Low expression |
| Brain | Not available | Moderate expression |
| Lung | Not available | Low expression |
| Kidney | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | Not available | Leukemia cell line; expression detected |
| HeLa | Not available | Cervical cancer cell line; expression detected |
| A549 | Not available | Lung carcinoma cell line; expression detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific variants reported | Not applicable | Not applicable | No disease-associated mutations curated in ClinVar or COSMIC for PPIAL4E specifically. |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations in PPIAL4E.
Gain of Function (GOF)
No evidence of gain-of-function mutations in PPIAL4E.
Dominant Negative (DN)
No evidence of dominant-negative mutations in PPIAL4E.
View complete mutation data：
Gene Ontology (GO)
| • peptidyl-prolyl cis-trans isomerase activity | • protein folding |
| • chaperone activity | • cytoplasm |
| • nucleus |
Pathways
• Protein folding and processing
• Immune response (cyclophilin-related)
Protein Summary
PPIAL4E encodes a protein with high similarity to cyclophilin A (PPIA), containing a peptidyl-prolyl cis-trans isomerase domain. The protein is predicted to localize to the cytoplasm and nucleus, and may participate in protein folding and chaperone functions. However, its exact biological role remains to be fully characterized, and it may be a functional retrocopy or a processed pseudogene with residual activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPIAL4E Knockout HEK293 Cell Line | EDJ-KQ14852 | Human | 730262 | Details Get a Quote |
| PPIAL4E Knockout HeLa Cell Line | EDJ-KQ60775 | Human | 730262 | Details Get a Quote |
| PPIAL4E Knockout A-549 Cell Line | EDJ-KQ69244 | Human | 730262 | Details Get a Quote |
| PPIAL4E Knockout HCT 116 Cell Line | EDJ-KQ77602 | Human | 730262 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
