PPIAL4C: Peptidylprolyl Isomerase A Like 4C
A cyclophilin family pseudogene with potential implications in genomic instability and cancer.
Gene Information Card
| Symbol | PPIAL4C |
|---|---|
| Full Name | Peptidylprolyl Isomerase A Like 4C |
| Gene Type | Pseudogene |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 644591 ncbi.nlm.nih.gov/gene/644591 |
| Ensembl ID | ENSG00000214548 |
| UniProt ID | None (pseudogene) |
| OMIM ID | None |
| HGNC ID | 33920 |
| Aliases | PPIAL4C, peptidylprolyl isomerase A (cyclophilin A)-like 4C |
Description
PPIAL4C is a pseudogene located on chromosome 1q21.1, belonging to the cyclophilin family. It is a processed pseudogene derived from the functional PPIA gene, which encodes cyclophilin A. Although it does not produce a functional protein, its genomic region is associated with copy number variations and may contribute to genomic instability in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Copy number variation at 1q21.1 may alter gene dosage of nearby functional genes, contributing to tumorigenesis. | NCBI Gene, COSMIC |
| Schizophrenia | Rare copy number variants at 1q21.1 have been associated with neuropsychiatric disorders. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Not expressed (pseudogene) | 0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Not expressed (pseudogene) | 0 | No detectable transcript |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not applicable (pseudogene).
Gain of Function (GOF)
Not applicable (pseudogene).
Dominant Negative (DN)
Not applicable (pseudogene).
View complete mutation data：
Protein Summary
PPIAL4C is a pseudogene and does not encode a functional protein. It is a non-transcribed processed pseudogene derived from the PPIA gene.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPIAL4C Knockout HCT 116 Cell Line | EDJ-KQ77479 | Human | 653598 | Details Get a Quote |
| PPIAL4C Knockout A-549 Cell Line | EDJ-KQ69127 | Human | 653598 | Details Get a Quote |
| PPIAL4C Knockout HeLa Cell Line | EDJ-KQ60654 | Human | 653598 | Details Get a Quote |
| PPIAL4C Knockout HEK293 Cell Line | EDJ-KQ14850 | Human | 653598 | Details Get a Quote |
