PPIL6 Gene - Peptidylprolyl Isomerase Like 6
Comprehensive gene information for PPIL6, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | PPIL6 |
|---|---|
| Full Name | Peptidylprolyl Isomerase Like 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 285755 ncbi.nlm.nih.gov/gene/285755 |
| Ensembl ID | ENSG00000185090 |
| UniProt ID | Q8IY37 |
| OMIM ID | 617286 |
| HGNC ID | 30143 |
| Aliases | CYPJ, cyclophilin J, PPIase J |
Description
PPIL6 (Peptidylprolyl Isomerase Like 6) is a protein-coding gene located on chromosome 6q21. It encodes a member of the cyclophilin family of peptidylprolyl isomerases (PPIases), which catalyze the cis-trans isomerization of proline imidic peptide bonds and facilitate protein folding. The encoded protein contains a PPIase domain and is predicted to be involved in protein folding and cellular stress responses. Expression data suggest broad but low-level expression across tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Brain | 1.5 | Low |
| Lung | 1.2 | Low |
| Liver | 0.8 | Not detected |
| Heart | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 1.8 | Low expression |
| HeLa | 1.5 | Low expression |
| K562 | 1.2 | Low expression |
| HepG2 | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants in COSMIC or ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • peptidyl-prolyl cis-trans isomerase activity (GO:0003755) | • protein folding (GO:0006457) |
| • cytoplasm (GO:0005737) |
Pathways
• No specific pathway annotations in curated databases
Protein Summary
The PPIL6 protein (UniProt Q8IY37) is a 174-amino acid cyclophilin with a single PPIase domain. It catalyzes the cis-trans isomerization of proline peptide bonds, aiding protein folding. Its expression is low across tissues, and its biological role remains poorly characterized. No disease associations or recurrent mutations have been reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPIL6 Knockout HEK293 Cell Line | EDJ-KQ14855 | Human | 285755 | Details Get a Quote |
| PPIL6 Knockout A-549 Cell Line | EDJ-KQ45294 | Human | 285755 | Details Get a Quote |
| PPIL6 Knockout HCT 116 Cell Line | EDJ-KQ45295 | Human | 285755 | Details Get a Quote |
| PPIL6 Knockout HeLa Cell Line | EDJ-KQ59530 | Human | 285755 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
