Entity Details

Primary name SYVM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5ST30
EntryNameSYVM_HUMAN
FullNameValine--tRNA ligase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length1063
SequenceStatuscomplete
DateCreated2008-06-10
DateModified2021-06-02

Ontological Relatives

GenesVARS2

GO terms

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GOName
GO:0002161 aminoacyl-tRNA editing activity
GO:0004832 valine-tRNA ligase activity
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0006438 valyl-tRNA aminoacylation

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR001412 Aminoacyl-tRNA synthetase, class I, conserved siteSiteConserved site
IPR002300 Aminoacyl-tRNA synthetase, class IaDomainDomain
IPR002303 Valine-tRNA ligaseFamilyFamily
IPR009008 Valyl/Leucyl/Isoleucyl-tRNA synthetase, editing domainFamilyHomologous superfamily
IPR009080 Aminoacyl-tRNA synthetase, class Ia, anticodon-bindingFamilyHomologous superfamily
IPR013155 Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-bindingDomainDomain
IPR014729 Rossmann-like alpha/beta/alpha sandwich foldFamilyHomologous superfamily
IPR033705 Valyl tRNA synthetase, anticodon-binding domainDomainDomain

Diseases

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Disease IDSourceNameDescription
615917 OMIMCombined oxidative phosphorylation deficiency 20 (COXPD20)A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions