PPIH: Peptidylprolyl Isomerase H (Cyclophilin H)
A cyclophilin family member involved in pre-mRNA splicing and protein folding.
Gene Information Card
| Symbol | PPIH |
|---|---|
| Full Name | Peptidylprolyl Isomerase H |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 10465 ncbi.nlm.nih.gov/gene/10465 |
| Ensembl ID | ENSG00000171960 |
| UniProt ID | O43447 |
| OMIM ID | 606589 |
| HGNC ID | 9258 |
| Aliases | CYP-20, CYPH, SnuCyp-20, USA-CYP |
Description
PPIH encodes peptidylprolyl isomerase H, a cyclophilin that catalyzes the cis-trans isomerization of proline imidic peptide bonds. It is a component of the U4/U6-U5 tri-snRNP complex of the spliceosome, playing a role in pre-mRNA splicing. The protein also exhibits chaperone-like activity and is involved in protein folding.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered splicing due to PPIH dysregulation may contribute to oncogenesis. | COSMIC; literature review |
| Retinitis pigmentosa | Potential involvement via spliceosomal defects; limited direct evidence. | OMIM #606589; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 22.3 | High |
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.4 | Embryonic kidney; high expression |
| HeLa | 20.1 | Cervical carcinoma; moderate |
| K562 | 18.7 | Leukemia; moderate |
| HepG2 | 12.3 | Hepatocellular carcinoma; low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.314A>G (p.Tyr105Cys) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.487C>T (p.Arg163Trp) | Missense | 0.005% (gnomAD) | Potential loss of isomerase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reducing isomerase activity may impair spliceosome function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • peptidyl-prolyl cis-trans isomerase activity (GO:0003755) | • protein folding (GO:0006457) |
| • mRNA splicing (GO:0000398) | • spliceosomal complex (GO:0005681) |
| • cytoplasm (GO:0005737) |
Pathways
• Spliceosome (Reactome: R-HSA-72163)
• mRNA Splicing - Major Pathway (KEGG: hsa03040)
Protein Summary
PPIH is a 177-amino acid cyclophilin with a peptidylprolyl isomerase domain. It localizes to the nucleus and cytoplasm, and is a stable component of the U4/U6-U5 tri-snRNP. The protein facilitates conformational changes in spliceosomal proteins during splicing. Its isomerase activity is inhibited by cyclosporin A.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPIH Knockout HEK293 Cell Line | EDJ-KQ2325 | Human | 10465 | Details Get a Quote |
| PPIH Knockout HeLa Cell Line | EDJ-KQ21395 | Human | 10465 | Details Get a Quote |
| PPIH Knockout A-549 Cell Line | EDJ-KQ22718 | Human | 10465 | Details Get a Quote |
| PPIH Knockout HCT 116 Cell Line | EDJ-KQ22719 | Human | 10465 | Details Get a Quote |
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