PPIL1 Gene - Peptidylprolyl Isomerase Like 1
Essential spliceosomal cyclophilin involved in pre-mRNA splicing and linked to neurodevelopmental disorders
Gene Information Card
| Symbol | PPIL1 |
|---|---|
| Full Name | Peptidylprolyl Isomerase Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 51645 ncbi.nlm.nih.gov/gene/51645 |
| Ensembl ID | ENSG00000137198 |
| UniProt ID | Q9Y3C6 |
| OMIM ID | 619379 |
| HGNC ID | 19027 |
| Aliases | CYP60, hCyP33, PPIase |
Description
PPIL1 (Peptidylprolyl Isomerase Like 1) encodes a cyclophilin-type peptidylprolyl isomerase that catalyzes the cis-trans isomerization of proline imidic peptide bonds. The protein is a component of the U5 snRNP and the spliceosome, playing a critical role in pre-mRNA splicing. Mutations in PPIL1 are associated with autosomal recessive neurodevelopmental disorders characterized by intellectual disability, microcephaly, and seizures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly, seizures, and brain abnormalities (NEDMISB) | Loss-of-function mutations impair spliceosomal function, leading to defective pre-mRNA splicing and neuronal dysfunction | OMIM #619379; ClinVar; PMID: 33077990 |
| Intellectual disability (non-syndromic) | Homozygous missense variants reduce PPIL1 enzymatic activity and spliceosome assembly | ClinVar; PMID: 33077990 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Heart | 10.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.2 | Medium expression |
| SH-SY5Y | 16.1 | High expression (neuronal model) |
| K562 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.389G>A (p.Arg130His) | Missense | Rare | Reduced isomerase activity; associated with NEDMISB |
| c.527C>T (p.Thr176Met) | Missense | Rare | Impaired spliceosomal function; reported in intellectual disability |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression; pathogenic in neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Homozygous missense and start-loss mutations reduce or abolish PPIL1 enzymatic activity and spliceosome incorporation, leading to defective pre-mRNA splicing.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; all reported pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Spliceosome (Reactome: R-HSA-72163)
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72172)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
PPIL1 is a 166-amino acid cyclophilin that localizes to the nucleus and cytoplasm. It contains a peptidylprolyl isomerase domain and interacts with spliceosomal components such as PRPF8 and SNRNP200. The enzyme accelerates the folding of proteins by catalyzing proline isomerization and is essential for the assembly and function of the U5 snRNP. Loss of PPIL1 function disrupts spliceosome dynamics and leads to aberrant splicing of genes critical for neurodevelopment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPIL1 Knockout HEK293 Cell Line | EDJ-KQ51338 | Human | 51645 | Details Get a Quote |
| PPIL1 Knockout HeLa Cell Line | EDJ-KQ56341 | Human | 51645 | Details Get a Quote |
| PPIL1 Knockout A-549 Cell Line | EDJ-KQ64829 | Human | 51645 | Details Get a Quote |
| PPIL1 Knockout HCT 116 Cell Line | EDJ-KQ73274 | Human | 51645 | Details Get a Quote |
