SARS2
Domain
Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding.
Function
Catalyzes the attachment of serine to tRNA(Ser). Is also probably 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).
Involvement in disease
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
HUPRAS
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; L-seryl-tRNA(Sec) from L-serine and tRNA(Sec): step 1/1.
Sequence Similarities
Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily.
Cellular localization
- Mitochondrion matrix
Alternative names
SARSM, SARS2, SerRSmt, Seryl-tRNA synthetase, Seryl-tRNA(Ser/Sec) synthetase, SerRS