Entity Details

Primary name SYLC_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9P2J5
EntryNameSYLC_HUMAN
FullNameLeucine--tRNA ligase, cytoplasmic
TaxID9606
Evidenceevidence at protein level
Length1176
SequenceStatuscomplete
DateCreated2004-06-07
DateModified2021-06-02

Ontological Relatives

GenesLARS1

GO terms

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GOName
GO:0002161 aminoacyl-tRNA editing activity
GO:0004819 glutamine-tRNA ligase activity
GO:0004823 leucine-tRNA ligase activity
GO:0005096 GTPase activator activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0006418 tRNA aminoacylation for protein translation
GO:0006425 glutaminyl-tRNA aminoacylation
GO:0006429 leucyl-tRNA aminoacylation
GO:0008361 regulation of cell size
GO:0012505 endomembrane system
GO:0016604 nuclear body
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex
GO:0032008 positive regulation of TOR signaling
GO:0034198 cellular response to amino acid starvation
GO:0043547 positive regulation of GTPase activity
GO:0071230 cellular response to amino acid stimulus
GO:0071233 cellular response to leucine
GO:1904263 positive regulation of TORC1 signaling
GO:1990253 cellular response to leucine starvation

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR001412 Aminoacyl-tRNA synthetase, class I, conserved siteSiteConserved site
IPR002300 Aminoacyl-tRNA synthetase, class IaDomainDomain
IPR004493 Leucyl-tRNA synthetase, class Ia, archaeal/eukaryotic cytosolicFamilyFamily
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

Diseases

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Disease IDSourceNameDescription
615438 OMIMInfantile liver failure syndrome 1 (ILFS1)A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00149 LeucineDrugbanksmall molecule