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 enable pseudouridine synthase activity. Predicted to be involved in pseudouridine synthesis. Predicted to act upstream of or within RNA modification and tRNA processing. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. 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