Ppil1 Gene Summary [Mouse]
Predicted to enable cyclosporin A binding activity; disordered domain specific binding activity; and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in embryonic brain development; gene expression; and protein peptidyl-prolyl isomerization. Predicted to be located in nucleus. Predicted to be part of U2-type catalytic step 2 spliceosome. Is expressed in several structures, including alimentary system; central nervous system; respiratory system; sensory organ; and urinary system. Used to study microcephaly and pontocerebellar hypoplasia type 14. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 14. Orthologous to human PPIL1 (peptidylprolyl isomerase like 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ppil1 |
| Official Name | peptidylprolyl isomerase (cyclophilin)-like 1 [Source:MGI Symbol;Acc:MGI:1916066] |
| Ensembl ID | ENSMUSG00000024007 |
| Bio databases IDs | |
| Aliases | peptidylprolyl isomerase (cyclophilin)-like 1 |
| Synonyms | 1110060O10Rik, CGI-124, CYCLOPHILIN-RELATED, CYPL1, hCyPX, PCH14, peptidylprolyl isomerase (cyclophilin)-like 1, peptidylprolyl isomerase like 1, Peptidylpropyl Isomerase - Like 1, PPIase |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ppil1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- peptidylprolyl isomerase
- Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD
- cyclophilin
- cyclosporin A binding
- protein domain specific binding
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pontocerebellar hypoplasia type 14
- congenital pontocerebellar hypoplasia
- neurodevelopmental disorder
- major depression
- overall survival
- idiopathic scoliosis
role in cell
- apoptosis
- growth
- splicing by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- interchromatin granule cluster fractions
- catalytic step 2 spliceosome
- Nucleus
- spliceosomes
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ppil1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein peptidyl-prolyl isomerization
- protein folding
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- nucleus
- catalytic step 2 spliceosome
- U2-type catalytic step 2 spliceosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- cyclosporin A binding
- peptidyl-prolyl cis-trans isomerase activity
- protein binding