Entity Details

Primary name SYSM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NP81
EntryNameSYSM_HUMAN
FullNameSerine--tRNA ligase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length518
SequenceStatuscomplete
DateCreated2002-10-10
DateModified2021-06-02

Ontological Relatives

GenesSARS2

GO terms

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GOName
GO:0000049 tRNA binding
GO:0003723 RNA binding
GO:0004828 serine-tRNA ligase activity
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006418 tRNA aminoacylation for protein translation
GO:0006434 seryl-tRNA aminoacylation
GO:0070158 mitochondrial seryl-tRNA aminoacylation
GO:0097056 selenocysteinyl-tRNA(Sec) biosynthetic process

Subcellular Location

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Subcellular Location
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR002314 Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)DomainDomain
IPR002317 Serine-tRNA ligase, type1FamilyFamily
IPR006195 Aminoacyl-tRNA synthetase, class IIDomainDomain
IPR010978 Class I and II aminoacyl-tRNA synthetase, tRNA-binding armFamilyHomologous superfamily
IPR033729 Serine-tRNA ligase catalytic core domainDomainDomain
IPR042103 Serine-tRNA synthetase, type1, N-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613845 OMIMHyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome (HUPRAS)A multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely. The disease is caused by variants affecting the gene represented in this entry.