PPIAL4D: Peptidylprolyl Isomerase A (Cyclophilin A)-Like 4D
A pseudogene-derived retrocopy with potential roles in cancer and genomic instability, located in a complex chromosomal region.
Gene Information Card
| Symbol | PPIAL4D |
|---|---|
| Full Name | Peptidylprolyl Isomerase A (Cyclophilin A) Like 4D |
| Gene Type | protein-coding (retrogene/pseudogene-like) |
| Chromosomal Location | 1q21.1 (GRCh38) |
| NCBI Gene ID | 646309 ncbi.nlm.nih.gov/gene/646309 |
| Ensembl ID | ENSG00000269335 |
| UniProt ID | A0A0A0MRZ8 (predicted) |
| OMIM ID | None assigned |
| HGNC ID | 44544 |
| Aliases | PPIAL4, PPIAL4A, PPIAL4C, PPIAL4E, PPIAL4F |
Description
PPIAL4D is a member of the peptidylprolyl isomerase A (PPIA) family, located in a segmentally duplicated region on chromosome 1q21.1. It is a retrocopy derived from the PPIA gene, lacking introns and containing a complete open reading frame. Although classified as a protein-coding gene, its expression is low and its protein product has not been experimentally characterized. PPIAL4D is part of a gene cluster that has been implicated in chromosomal rearrangements and copy number variations associated with neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | PPIAL4D is located in a region frequently amplified or rearranged in cancer; its overexpression may contribute to tumorigenesis through altered protein folding or interaction with cyclophilin A pathways. | COSMIC: copy number gains and overexpression in multiple cancer types; limited functional evidence. |
| Genomic instability | The 1q21.1 region contains low-copy repeats that predispose to non-allelic homologous recombination, leading to microdeletions/duplications; PPIAL4D is within these breakpoint regions. | ClinVar: structural variants in this region are associated with disease; PPIAL4D is a marker for the region. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.8 | Low |
| Lymph node | 0.5 | Low |
| Bone marrow | 0.4 | Low |
| Other tissues | 0.1-0.3 | Very low/not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 1.2 | Low expression |
| HeLa (cervical cancer) | 0.9 | Low expression |
| A549 (lung cancer) | 0.7 | Low expression |
| HepG2 (liver cancer) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (MAF <0.01) | Potential loss of start codon; effect unknown |
| c.200C>T (p.Thr67Met) | Missense | Rare (MAF <0.01) | May affect protein stability; not validated |
| Copy number gain | CNV | Frequent in cancer | Overexpression; may contribute to oncogenesis |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported; predicted start codon loss may reduce translation.
Gain of Function (GOF)
Copy number gains leading to overexpression are observed in cancer, suggesting a potential gain-of-function role.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • peptidyl-prolyl cis-trans isomerase activity | • protein folding |
| • cytoplasm | • nucleus |
Pathways
• Immunophilins and cyclophilins in protein folding
• PPIA-mediated signaling (inferred from homology)
Protein Summary
The PPIAL4D protein is predicted to be a cyclophilin-type peptidylprolyl isomerase, similar to PPIA. It contains a PPIase domain that catalyzes the cis-trans isomerization of proline peptide bonds, which is important for protein folding and trafficking. However, its expression is very low and the protein has not been detected in vivo, suggesting it may be a pseudogene or have tissue-specific functions. Its role in cancer is speculative and requires further investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPIAL4D Knockout HEK293 Cell Line | EDJ-KQ14851 | Human | 645142 | Details Get a Quote |
| PPIAL4D Knockout HeLa Cell Line | EDJ-KQ60582 | Human | 645142 | Details Get a Quote |
| PPIAL4D Knockout A-549 Cell Line | EDJ-KQ69052 | Human | 645142 | Details Get a Quote |
| PPIAL4D Knockout HCT 116 Cell Line | EDJ-KQ77407 | Human | 645142 | Details Get a Quote |
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