MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP005349

UniProt Annotations

Entry Information
Gene Nameseryl-tRNA synthetase 2, mitochondrial
Protein EntrySYSM_HUMAN
UniProt IDQ9NP81
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NP81-1; Sequence=Displayed; Name=2; IsoId=Q9NP81-2; Sequence=VSP_043020; Note=No experimental confirmation available.;
Catalytic ActivityATP + L-serine + tRNA(Sec) = AMP + diphosphate + L-seryl-tRNA(Sec).
Catalytic ActivityATP + L-serine + tRNA(Ser) = AMP + diphosphate + L-seryl-tRNA(Ser).
DiseaseHyperuricemia pulmonary hypertension renal failure and alkalosis (HUPRA) [MIM:613845]: A multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely. {ECO:0000269|PubMed:21255763}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainConsists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding. {ECO:0000250}.
FunctionCatalyzes the attachment of serine to tRNA(Ser). Is also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec) (By similarity). {ECO:0000250}.
PathwayAminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; L-seryl-tRNA(Sec) from L-serine and tRNA(Sec): step 1/1.
Sequence CautionSequence=AAH01020.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily. {ECO:0000305}.
Subcellular LocationMitochondrion matrix {ECO:0000250}.
SubunitHomodimer. The tRNA molecule binds across the dimer (By similarity). {ECO:0000250}.
  logo