Entity Details

Primary name SYEM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5JPH6
EntryNameSYEM_HUMAN
FullNameProbable glutamate--tRNA ligase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length523
SequenceStatuscomplete
DateCreated2006-10-31
DateModified2021-06-02

Ontological Relatives

GenesEARS2

GO terms

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GOName
GO:0000049 tRNA binding
GO:0004818 glutamate-tRNA ligase activity
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006424 glutamyl-tRNA aminoacylation
GO:0008270 zinc ion binding
GO:0050561 glutamate-tRNA(Gln) ligase activity
GO:0070127 tRNA aminoacylation for mitochondrial protein translation

Subcellular Location

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Subcellular Location
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR000924 Glutamyl/glutaminyl-tRNA synthetaseFamilyFamily
IPR001412 Aminoacyl-tRNA synthetase, class I, conserved siteSiteConserved site
IPR004527 Glutamate-tRNA ligase, bacterial/mitochondrialFamilyFamily
IPR008925 Aminoacyl-tRNA synthetase, class I, anticodon-bindingFamilyHomologous superfamily
IPR014729 Rossmann-like alpha/beta/alpha sandwich foldFamilyHomologous superfamily
IPR020058 Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domainDomainDomain
IPR020751 Aminoacyl-tRNA synthetase, class I, anticodon-binding domain, subdomain 2FamilyHomologous superfamily
IPR033910 Glutamyl-tRNA synthetaseDomainDomain

Diseases

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Disease IDSourceNameDescription
614924 OMIMCombined oxidative phosphorylation deficiency 12 (COXPD12)An autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00142 Glutamic acidDrugbanksmall molecule

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
SYEM_HUMANOGT1_HUMANBioGRID32994395 details
SYEM_HUMANGRSF1_HUMANBioGRID29395067 details