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MGP000789

UniProt Annotations

Entry Information
Gene Nameaspartyl-tRNA synthetase
Protein EntrySYDC_HUMAN
UniProt IDP14868
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P14868-1; Sequence=Displayed; Name=2; IsoId=P14868-2; Sequence=VSP_056192; Note=No experimental confirmation available.;
Catalytic ActivityATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp).
DiseaseHypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]: 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. {ECO:0000269|PubMed:23643384}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.
InteractionP62993:GRB2; NbExp=2; IntAct=EBI-358730, EBI-401755;
SimilarityBelongs to the class-II aminoacyl-tRNA synthetase family. {ECO:0000305}.
Subcellular LocationCytoplasm.
SubunitHomodimer; also part of a multisubunit complex that groups AIMP1, AIMP2, EEF1A1 and tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro.
Tissue SpecificityExpression in the developing and adult brain shows similar patterns. Highly expressed in the ventricular and subventricular zones, including hippocampal subfields, the midlateral temporaal cortex and the frontal polar cortex. The cerebellum, cereral cortex, hippocampus, and lateral ventricle show preferential neuronal expression. Expression in the peripheral neurons is evident in the colon. {ECO:0000269|PubMed:23643384}.
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