Entity Details

Primary name TRUA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y606
EntryNameTRUA_HUMAN
FullNametRNA pseudouridine synthase A
TaxID9606
Evidenceevidence at protein level
Length427
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesPUS1

GO terms

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GOName
GO:0000049 tRNA binding
GO:0002153 steroid receptor RNA activator RNA binding
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0009982 pseudouridine synthase activity
GO:0031119 tRNA pseudouridine synthesis
GO:0070902 mitochondrial tRNA pseudouridine synthesis
GO:0106029 tRNA pseudouridine synthase activity
GO:1990481 mRNA pseudouridine synthesis

Subcellular Location

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Subcellular Location
Mitochondrion
Nucleus

Domains

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DomainNameCategoryType
IPR001406 Pseudouridine synthase I, TruAFamilyFamily
IPR020095 Pseudouridine synthase I, TruA, C-terminalFamilyHomologous superfamily
IPR020097 Pseudouridine synthase I, TruA, alpha/beta domainDomainDomain
IPR020103 Pseudouridine synthase, catalytic domain superfamilyFamilyHomologous superfamily
IPR041708 Pseudouridine synthase PUS1/ PUS2-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
600462 OMIMMyopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1)A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. The disease is caused by variants affecting the gene represented in this entry.

Interactions

0 interactions

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