Entity Details

Primary name SYIM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NSE4
EntryNameSYIM_HUMAN
FullNameIsoleucine--tRNA ligase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length1012
SequenceStatuscomplete
DateCreated2006-05-02
DateModified2021-06-02

Ontological Relatives

GenesIARS2

GO terms

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GOName
GO:0000049 tRNA binding
GO:0002161 aminoacyl-tRNA editing activity
GO:0004822 isoleucine-tRNA ligase activity
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006418 tRNA aminoacylation for protein translation
GO:0006428 isoleucyl-tRNA aminoacylation
GO:0032543 mitochondrial translation

Subcellular Location

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Subcellular Location
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR001412 Aminoacyl-tRNA synthetase, class I, conserved siteSiteConserved site
IPR002300 Aminoacyl-tRNA synthetase, class IaDomainDomain
IPR002301 Isoleucine-tRNA ligaseFamilyFamily
IPR009008 Valyl/Leucyl/Isoleucyl-tRNA synthetase, editing domainFamilyHomologous superfamily
IPR009080 Aminoacyl-tRNA synthetase, class Ia, anticodon-bindingFamilyHomologous superfamily
IPR010663 Zinc finger, FPG/IleRS-typeDomainDomain
IPR013155 Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-bindingDomainDomain
IPR014729 Rossmann-like alpha/beta/alpha sandwich foldFamilyHomologous superfamily
IPR023585 Isoleucine-tRNA ligase, type 1FamilyFamily
IPR033708 Isoleucyl tRNA synthetase type 1, anticodon-binding domainDomainDomain

Diseases

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Disease IDSourceNameDescription
616007 OMIMCataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)An autosomal recessive disorder characterized by cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism. The disease may be caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00167 IsoleucineDrugbanksmall molecule