|
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 |
|
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)
|
| 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 RCV001849824 RCV001849825 RCV001849826 RCV001849478 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) |
|
| 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 |
|
| 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 |
|