Entity Details

Primary name SYAM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5JTZ9
EntryNameSYAM_HUMAN
FullNameAlanine--tRNA ligase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length985
SequenceStatuscomplete
DateCreated2006-10-03
DateModified2021-06-02

Ontological Relatives

GenesAARS2

GO terms

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GOName
GO:0000049 tRNA binding
GO:0002161 aminoacyl-tRNA editing activity
GO:0004813 alanine-tRNA ligase activity
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0006400 tRNA modification
GO:0006419 alanyl-tRNA aminoacylation
GO:0008270 zinc ion binding
GO:0016597 amino acid binding
GO:0070143 mitochondrial alanyl-tRNA aminoacylation

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR002318 Alanine-tRNA ligase, class IIcFamilyFamily
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
614096 OMIMCombined oxidative phosphorylation deficiency 8 (COXPD8)A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected. The disease is caused by variants affecting the gene represented in this entry.
615889 OMIMLeukoencephalopathy, progressive, with ovarian failure (LKENP)An autosomal recessive neurodegenerative disorder characterized by childhood- to adulthood-onset of signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with striking involvement of deep white matter, and cerebellar atrophy. All female patients develop premature ovarian failure. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00160 AlanineDrugbanksmall molecule