Entity Details

Primary name SYDC_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP14868
EntryNameSYDC_HUMAN
FullNameAspartate--tRNA ligase, cytoplasmic
TaxID9606
Evidenceevidence at protein level
Length501
SequenceStatuscomplete
DateCreated1990-04-01
DateModified2021-06-02

Ontological Relatives

GenesDARS1

GO terms

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GOName
GO:0003723 RNA binding
GO:0004046 aminoacylase activity
GO:0004815 aspartate-tRNA ligase activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006422 aspartyl-tRNA aminoacylation
GO:0016020 membrane
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex
GO:0045202 synapse
GO:0065003 protein-containing complex assembly
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR002312 Aspartyl/Asparaginyl-tRNA synthetase, class IIbFamilyFamily
IPR004364 Aminoacyl-tRNA synthetase, class II (D/K/N)DomainDomain
IPR004365 OB-fold nucleic acid binding domain, AA-tRNA synthetase-typeDomainDomain
IPR004523 Aspartate-tRNA synthetase, type 2FamilyFamily
IPR006195 Aminoacyl-tRNA synthetase, class IIDomainDomain
IPR012340 Nucleic acid-binding, OB-foldFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615281 OMIMHypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild mental retardation. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00128 Aspartic acidDrugbanksmall molecule