PPIAL4F: Peptidylprolyl Isomerase A (Cyclophilin A)-Like 4F
A pseudogene-derived retrogene with potential roles in cancer and genomic instability
Gene Information Card
| Symbol | PPIAL4F |
|---|---|
| Full Name | Peptidylprolyl Isomerase A (Cyclophilin A)-Like 4F |
| Gene Type | protein-coding (retrogene) |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 100131869 ncbi.nlm.nih.gov/gene/100131869 |
| Ensembl ID | ENSG00000269318 |
| UniProt ID | A0A0A0MRZ8 |
| OMIM ID | Not available |
| HGNC ID | 44249 |
| Aliases | PPIAL4F, peptidylprolyl isomerase A (cyclophilin A)-like 4F |
Description
PPIAL4F is a retrogene derived from the peptidylprolyl isomerase A (PPIA) gene, located on chromosome 1q21.1. It encodes a protein similar to cyclophilin A, which is involved in protein folding and isomerization. The gene is part of a family of PPIA-like genes that have arisen through retrotransposition. PPIAL4F is expressed in various tissues and has been implicated in cancer and genomic instability due to its location in a region prone to copy number variations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | PPIAL4F is located in a region frequently amplified in cancers; overexpression may contribute to tumorigenesis through altered protein folding or interaction with signaling pathways. | COSMIC and literature reports indicate copy number gains and overexpression in some tumors. |
| Genomic instability disorders | The 1q21.1 region is a known hotspot for structural variants; PPIAL4F may be involved in non-allelic homologous recombination leading to microdeletions/duplications. | ClinVar and literature reports of 1q21.1 copy number variants. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 8.5 | Low |
| Spleen | 7.1 | Low |
| Bone marrow | 6.3 | Low |
| Other tissues | <5 | Not detected or very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 12.4 | Myelogenous leukemia cell line; moderate expression |
| MCF7 | 8.2 | Breast cancer cell line; low expression |
| HeLa | 6.5 | Cervical cancer cell line; low expression |
| A549 | 5.1 | Lung cancer cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific pathogenic variants reported | N/A | N/A | No known disease-associated mutations in PPIAL4F; copy number variations in the region are more relevant. |
Mutation functional classification
Loss of Function (LOF)
Not established; no loss-of-function mutations reported.
Gain of Function (GOF)
Potential gain-of-function via copy number amplification leading to overexpression in cancer.
Dominant Negative (DN)
Not applicable; no evidence.
View complete mutation data：
Gene Ontology (GO)
| • peptidyl-prolyl cis-trans isomerase activity | • protein folding |
| • chaperone activity |
Pathways
• Protein folding and processing
• Immunophilins and cyclophilins pathway
Protein Summary
The PPIAL4F protein is a cyclophilin A-like peptidylprolyl isomerase. It contains a PPIase domain that catalyzes the cis-trans isomerization of proline peptide bonds, which is important for protein folding and maturation. The protein is localized in the cytoplasm and may interact with various cellular proteins. Its exact physiological role is not fully characterized, but it may contribute to cancer progression when overexpressed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPIAL4F Knockout HEK293 Cell Line | EDJ-KQ14853 | Human | 728945 | Details Get a Quote |
| PPIAL4F Knockout HeLa Cell Line | EDJ-KQ60727 | Human | 728945 | Details Get a Quote |
| PPIAL4F Knockout A-549 Cell Line | EDJ-KQ69197 | Human | 728945 | Details Get a Quote |
| PPIAL4F Knockout HCT 116 Cell Line | EDJ-KQ77554 | Human | 728945 | Details Get a Quote |
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