PPIL1 (peptidylprolyl isomerase like 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 51645 |
| Gene name | Peptidylprolyl isomerase like 1 |
| Gene symbol | PPIL1 |
| Synonyms (NCBI Gene) |
CGI-124CYPL1PCH14PPIasehCyPX
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| Chromosome | 6 |
| Chromosome location | 6p21.2 |
| Summary | This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infecti |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9Y3C6 | ||||||||||
| Protein name | Peptidyl-prolyl cis-trans isomerase-like 1 (PPIase) (EC 5.2.1.8) (Rotamase PPIL1) | ||||||||||
| Protein function | Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:33220177). PPIases accelerate the folding of proteins. Catalyzes the cis-trans isomerization of proline imidic peptide bonds | ||||||||||
| PDB | 1XWN , 2K7N , 2X7K , 5MQF , 5XJC , 5YZG , 5Z56 , 5Z57 , 6FF4 , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 6ZYM , 7QTT , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8I0S , 8I0T , 8I0U , 8I0V , 8I0W , 8RO2 , 9FMD | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitous, with the most abundant expression in heart and skeletal muscle. | ||||||||||
| Sequence | |||||||||||
| Sequence length | 166 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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Related Genes
Genes most often co-reported with PPIL1 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to PPIL1 (see Related Genes above), that are NOT already directly curated for PPIL1 itself -- a lead worth checking, not a confirmed association.
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