MGP Database

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MGP003604

UniProt Annotations

Entry Information
Gene Nametyrosyl-tRNA synthetase
Protein EntrySYYC_HUMAN
UniProt IDP54577
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityATP + L-tyrosine + tRNA(Tyr) = AMP + diphosphate + L-tyrosyl-tRNA(Tyr).
DiseaseCharcot-Marie-Tooth disease, dominant, intermediate type, C (CMTDIC) [MIM:608323]: A 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. The dominant intermediate type C is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269|PubMed:16429158}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr- AMP and then transferred to the acceptor end of tRNA(Tyr). {ECO:0000250}.
Sequence CautionSequence=AAB39406.1; Type=Frameshift; Positions=354; Evidence={ECO:0000305};
SimilarityBelongs to the class-I aminoacyl-tRNA synthetase family. {ECO:0000305}.
SimilarityContains 1 tRNA-binding domain. {ECO:0000255|PROSITE- ProRule:PRU00209}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:16429158}.
SubunitHomodimer. {ECO:0000269|PubMed:12427973, ECO:0000269|PubMed:14671330}.
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