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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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O43660 |
| Protein name |
Pleiotropic regulator 1 |
| Protein function |
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:28076346, PubMed:28502770). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing (PubMed:111015 |
| PDB |
4YVD
, 5MQF
, 5XJC
, 5YZG
, 5Z56
, 5Z57
, 5Z58
, 6FF4
, 6FF7
, 6ICZ
, 6ID0
, 6ID1
, 6QDV
, 6ZYM
, 7AAV
, 7ABF
, 7ABG
, 7ABI
, 7DH6
, 7DVQ
, 7QTT
, 7W59
, 7W5A
, 7W5B
, 8C6J
, 8CH6
, 8I0P
, 8I0R
, 8I0S
, 8I0T
, 8I0U
, 8I0V
, 8I0W
, 8RO2
, 9FMD
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00400 |
WD40 |
194 → 232 |
WD domain, G-beta repeat |
Repeat |
| PF00400 |
WD40 |
236 → 274 |
WD domain, G-beta repeat |
Repeat |
| PF00400 |
WD40 |
278 → 316 |
WD domain, G-beta repeat |
Repeat |
| PF00400 |
WD40 |
320 → 358 |
WD domain, G-beta repeat |
Repeat |
| PF00400 |
WD40 |
403 → 440 |
WD domain, G-beta repeat |
Repeat |
|
| Sequence |
|
| Sequence length |
514 |
| 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 |
Source |
Evidence Score |
| CHRONIC OBSTRUCTIVE PULMONARY DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| STROKE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
35290436 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
17234774, 20484558, 30462625 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
25003523, 30661451 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
BEFREE |
31653075 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
17234774, 20484558, 30462625 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
24968948 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
17234774, 21541048 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
18187808, 18684031, 23696794, 24939702 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
24968948 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
18684031 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
35831348 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
|