Entity Details

Primary name SYAC_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP49588
EntryNameSYAC_HUMAN
FullNameAlanine--tRNA ligase, cytoplasmic
TaxID9606
Evidenceevidence at protein level
Length968
SequenceStatuscomplete
DateCreated1996-02-01
DateModified2021-06-02

Ontological Relatives

GenesAARS1

GO terms

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GOName
GO:0000049 tRNA binding
GO:0002161 aminoacyl-tRNA editing activity
GO:0002196 Ser-tRNA(Ala) hydrolase activity
GO:0004813 alanine-tRNA ligase activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0006400 tRNA modification
GO:0006418 tRNA aminoacylation for protein translation
GO:0006419 alanyl-tRNA aminoacylation
GO:0008033 tRNA processing
GO:0008270 zinc ion binding
GO:0016020 membrane
GO:0016597 amino acid binding
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR002318 Alanine-tRNA ligase, class IIcFamilyFamily
IPR003156 DHHA1 domainDomainDomain
IPR009000 Translation protein, beta-barrel domain superfamilyFamilyHomologous superfamily
IPR012947 Threonyl/alanyl tRNA synthetase, SADDomainDomain
IPR018162 Alanine-tRNA ligase, class IIc, anti-codon-binding domain superfamilyFamilyHomologous superfamily
IPR018163 Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamilyFamilyHomologous superfamily
IPR018164 Alanyl-tRNA synthetase, class IIc, N-terminalDomainDomain
IPR018165 Alanyl-tRNA synthetase, class IIc, core domainDomainDomain
IPR023033 Alanine-tRNA ligase, eukaryota/bacteriaFamilyFamily

Diseases

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Disease IDSourceNameDescription
613287 OMIMCharcot-Marie-Tooth disease 2N (CMT2N)An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. The disease is caused by variants affecting the gene represented in this entry.
616339 OMIMDevelopmental and epileptic encephalopathy 29 (DEE29)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE29 patients manifest severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00160 AlanineDrugbanksmall molecule