|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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O60508 |
| Protein name |
Pre-mRNA-processing factor 17 (Cell division cycle 40 homolog) (EH-binding protein 3) (Ehb3) (PRP17 homolog) (hPRP17) |
| Protein function |
Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:33220177). Plays an important role in embryonic brain development; this function does not require proline isomerization (PubMed:33220177). {ECO:0000269|PubMed:28076 |
| PDB |
5MQF
, 5XJC
, 5YZG
, 5Z56
, 5Z57
, 6FF4
, 6FF7
, 6ICZ
, 6ID0
, 6ID1
, 6QDV
, 6ZYM
, 7A5P
, 7AAV
, 7ABI
, 7W59
, 7W5A
, 7W5B
, 8C6J
, 8CH6
, 8I0T
, 8I0U
, 8I0V
, 8I0W
, 8RO2
, 9FMD
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00400 |
WD40 |
278 → 317 |
WD domain, G-beta repeat |
Repeat |
| PF00400 |
WD40 |
322 → 360 |
WD domain, G-beta repeat |
Repeat |
| PF00400 |
WD40 |
408 → 446 |
WD domain, G-beta repeat |
Repeat |
| PF00400 |
WD40 |
496 → 536 |
WD domain, G-beta repeat |
Repeat |
| PF00400 |
WD40 |
540 → 579 |
WD domain, G-beta repeat |
Repeat |
|
| Sequence |
|
| Sequence length |
579 |
| 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 |
rs779945821 |
RCV001849511 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Pontocerebellar hypoplasia, type 15 |
Likely pathogenic; Pathogenic |
rs779945821 |
RCV001375917 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
|
| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| Acute myeloid leukemia |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cholangiocarcinoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Clear cell carcinoma of kidney |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colon adenocarcinoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung cancer |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian cancer |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid cancer, nonmedullary, 1 |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uveal melanoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
27349221 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
27349221 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
27349221 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
BEFREE |
27633496 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
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