Gene Gene information from NCBI Gene database.
Entrez ID 51645
Gene name Peptidylprolyl isomerase like 1
Gene symbol PPIL1
Synonyms (NCBI Gene)
CGI-124CYPL1PCH14PPIasehCyPX
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
miRNA miRNA information provided by mirtarbase database.
548
miRTarBase ID miRNA Experiments Reference
MIRT049285 hsa-miR-92a-3p CLASH 23622248
MIRT046440 hsa-miR-15b-5p CLASH 23622248
MIRT044522 hsa-miR-320a CLASH 23622248
MIRT044522 hsa-miR-320a CLASH 23622248
MIRT043399 hsa-miR-331-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome IDA 28076346
GO:0000398 Process MRNA splicing, via spliceosome IMP 33220177
GO:0000413 Process Protein peptidyl-prolyl isomerization IDA 16595688, 33220177
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601301 9260 ENSG00000137168
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00160 Pro_isomerase 13 163 Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous, with the most abundant expression in heart and skeletal muscle.
Sequence
Sequence length 166
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital pontocerebellar hypoplasia Likely pathogenic; Pathogenic rs199818754, rs1583103432, rs374639625, rs1774173253, rs765668519, rs2150653427, rs2150653422, rs2150653717, rs1774516234 RCV001849508
RCV001849509
RCV001849510
RCV001849822
RCV001849823
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder Likely pathogenic rs1774516234 RCV001195285
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontocerebellar hypoplasia, type 14 Likely pathogenic; Pathogenic rs199818754, rs1583103432, rs374639625, rs1774516234 RCV001375912
RCV001375913
RCV001375916
RCV001375914
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 12721297 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 26020957
★☆☆☆☆
Found in Text Mining only
Laryngeal Neoplasms Laryngeal neoplasm Pubtator 37105032 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28076852
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 21535099
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 23934277, 29286102, 29605603, 30660590, 31728832
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 34793589 Associate
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 31830361
★☆☆☆☆
Found in Text Mining only
Stomach Carcinoma Stomach Carcinoma BEFREE 21535099
★☆☆☆☆
Found in Text Mining only
Stomach Diseases Stomach Diseases BEFREE 29148176
★☆☆☆☆
Found in Text Mining only