Entity Details

Primary name PUS3
Entity type gene
Source Source Link

Details

PrimaryID83480
RefseqGeneNG_033067
SymbolPUS3
Namepseudouridine synthase 3
Chromosome11
Location11q24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPUS3_HUMAN

GO terms

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GOName
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006400 tRNA modification
GO:0009982 pseudouridine synthase activity
GO:0031119 tRNA pseudouridine synthesis
GO:0106029 tRNA pseudouridine synthase activity
GO:1990481 mRNA pseudouridine synthesis

Diseases

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Disease IDSourceNameDescription
617051 OMIMMental retardation, autosomal recessive 55 (MRT55)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
PUS3PDZK1IntAct30126976 details
PUS3PEA15BioGRID24710276 details