Gene
pus1
- ID
- ZDB-GENE-041212-26
- Name
- pseudouridine synthase 1
- Symbol
- pus1 Nomenclature History
- Previous Names
-
- wu:fb98h11
- zgc:103516
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have pseudouridine synthase activity. Predicted to be involved in mRNA pseudouridine synthesis and tRNA pseudouridine synthesis. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in myopathy, lactic acidosis, and sideroblastic anemia 1. Orthologous to human PUS1 (pseudouridine synthase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Mishima et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| myopathy, lactic acidosis, and sideroblastic anemia 1 | Alliance | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR020097 | Pseudouridine synthase I, TruA, alpha/beta domain |
| Family | IPR001406 | Pseudouridine synthase I, TruA |
| Family | IPR041708 | Pseudouridine synthase PUS1/ PUS2-like |
| Homologous_superfamily | IPR020094 | Pseudouridine synthase TruA/RsuA/RluB/E/F, N-terminal |
| Homologous_superfamily | IPR020095 | Pseudouridine synthase I, TruA, C-terminal |
| Homologous_superfamily | IPR020103 | Pseudouridine synthase, catalytic domain superfamily |
Domain Details Per Protein
| Protein | Length | Pseudouridine synthase, catalytic domain superfamily | Pseudouridine synthase I, TruA | Pseudouridine synthase I, TruA, alpha/beta domain | Pseudouridine synthase I, TruA, C-terminal | Pseudouridine synthase PUS1/ PUS2-like | Pseudouridine synthase TruA/RsuA/RluB/E/F, N-terminal |
|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QWW1
|
412 |
Interactions and Pathways
No data available
Plasmids
No data available