Gene
pus7
- ID
- ZDB-GENE-060620-1
- Name
- pseudouridine synthase 7
- Symbol
- pus7 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have pseudouridine synthase activity. Predicted to be involved in pseudouridine synthesis. Predicted to localize to nucleus. Orthologous to human PUS7 (pseudouridine synthase 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | Alliance | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 618342 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR020119 | Pseudouridine synthase TruD, conserved site |
| Domain | IPR001374 | R3H domain |
| Domain | IPR011760 | Pseudouridine synthase, TruD, insertion domain |
| Family | IPR001656 | Pseudouridine synthase, TruD |
| Homologous_superfamily | IPR020103 | Pseudouridine synthase, catalytic domain superfamily |
| Homologous_superfamily | IPR042214 | Pseudouridine synthase, TruD, catalytic domain |
Domain Details Per Protein
| Protein | Length | Pseudouridine synthase, catalytic domain superfamily | Pseudouridine synthase, TruD | Pseudouridine synthase, TruD, catalytic domain | Pseudouridine synthase TruD, conserved site | Pseudouridine synthase, TruD, insertion domain | R3H domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:B1H1H9
|
627 |
Interactions and Pathways
No data available
Plasmids
No data available