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

Expression

All Expression Data

5 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:5411761 (1 image)
IMAGE:7161210 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Mishima et al., 2016
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pus1 Human Ortholog

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

Associated With pus1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

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