PPIAL4G Gene - Peptidylprolyl Isomerase A Like 4G
A pseudogene on chromosome 1q21.1, associated with the 1q21.1 duplication syndrome region, with no known protein-coding function.
Gene Information Card
| Symbol | PPIAL4G |
|---|---|
| Full Name | Peptidylprolyl Isomerase A Like 4G |
| Gene Type | Pseudogene |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 646508 ncbi.nlm.nih.gov/gene/646508 |
| Ensembl ID | ENSG00000239961 |
| UniProt ID | None (Pseudogene) |
| OMIM ID | None |
| HGNC ID | 33954 |
| Aliases | PPIAL4G, peptidylprolyl isomerase A (cyclophilin A)-like 4G |
Description
PPIAL4G (Peptidylprolyl Isomerase A Like 4G) is a pseudogene located on chromosome 1 at 1q21.1. Pseudogenes are genomic sequences that resemble functional genes but have lost their protein-coding ability due to mutations such as frameshifts, premature stop codons, or other disruptions. This locus is part of a complex, highly repetitive genomic region that is frequently involved in structural variations, including copy number variations (CNVs). The region is clinically significant as it is associated with the 1q21.1 duplication and deletion syndromes, which are characterized by a range of neurodevelopmental and congenital anomalies. While PPIAL4G itself is not a functional protein-coding gene, its presence and variation in this region can be a marker for these larger genomic rearrangements.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 1q21.1 duplication syndrome | The PPIAL4G locus is located within the 1q21.1 region, which is subject to non-allelic homologous recombination (NAHR) due to its segmental duplications. This can lead to duplications or deletions of the entire region, including PPIAL4G. The clinical phenotype is thought to be driven by the dosage changes of other functional genes in the region, with PPIAL4G serving as a positional marker. | Evidence from genomic studies and clinical databases (e.g., ClinVar, DECIPHER) identifies the 1q21.1 region as a hotspot for CNVs associated with the syndrome. The presence of PPIAL4G in this region is documented in NCBI and Ensembl. |
| 1q21.1 deletion syndrome | Similar to the duplication syndrome, deletions of the 1q21.1 region, which includes the PPIAL4G locus, are associated with a distinct but overlapping clinical presentation. The deletion is mediated by the same low-copy repeats that flank the region. | Clinical and genomic evidence from peer-reviewed literature and databases like ClinVar and OMIM (for the syndrome, not the gene) support the association of this region with the deletion syndrome. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Not Applicable | N/A | As a pseudogene, PPIAL4G is not expected to produce a functional protein. RNA expression may be detected at low levels in some tissues due to transcriptional read-through, but this is not biologically significant. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Not Applicable | N/A | No protein expression is expected. Any RNA transcripts are likely non-functional and subject to degradation. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Structural Variants (CNVs) | Copy Number Variation (Duplication/Deletion) | Variable; population-specific and pathogenic in the context of 1q21.1 syndrome. | Alters the copy number of the entire 1q21.1 region, including PPIAL4G. The clinical effect is due to the dosage change of other genes in the region, not PPIAL4G itself. |
Mutation functional classification
Loss of Function (LOF)
Not applicable. As a pseudogene, it has no function to lose.
Gain of Function (GOF)
Not applicable. It does not encode a functional protein.
Dominant Negative (DN)
Not applicable. It does not produce a protein product that could interfere with other proteins.
View complete mutation data：
Protein Summary
PPIAL4G is a pseudogene and does not encode a protein. It is a genomic remnant of a peptidylprolyl isomerase A (PPIA) gene, which has lost its coding potential. Therefore, no protein structure, function, or interactions are associated with this locus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPIAL4G Knockout HEK293 Cell Line | EDJ-KQ52382 | Human | 644591 | Details Get a Quote |
| PPIAL4G Knockout HeLa Cell Line | EDJ-KQ60572 | Human | 644591 | Details Get a Quote |
| PPIAL4G Knockout A-549 Cell Line | EDJ-KQ69043 | Human | 644591 | Details Get a Quote |
| PPIAL4G Knockout HCT 116 Cell Line | EDJ-KQ77397 | Human | 644591 | Details Get a Quote |
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