Human Gene SARS2 (ENST00000221431.11) from GENCODE V44
Description: Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), transcript variant 2, mRNA. (from RefSeq NM_017827) RefSeq Summary (NM_017827): This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]. Gencode Transcript: ENST00000221431.11 Gencode Gene: ENSG00000104835.15 Transcript (Including UTRs) Position: hg38 chr19:38,915,266-38,930,763 Size: 15,498 Total Exon Count: 16 Strand: - Coding Region Position: hg38 chr19:38,915,606-38,930,736 Size: 15,131 Coding Exon Count: 16
ID:SYSM_HUMAN DESCRIPTION: RecName: Full=Serine--tRNA ligase, mitochondrial; EC=6.1.1.11; AltName: Full=SerRSmt; AltName: Full=Seryl-tRNA synthetase; Short=SerRS; AltName: Full=Seryl-tRNA(Ser/Sec) synthetase; Flags: Precursor; FUNCTION: Catalyzes 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). CATALYTIC ACTIVITY: ATP + L-serine + tRNA(Ser) = AMP + diphosphate + L-seryl-tRNA(Ser). CATALYTIC ACTIVITY: ATP + L-serine + tRNA(Sec) = AMP + diphosphate + L-seryl-tRNA(Sec). PATHWAY: Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; L-seryl-tRNA(Sec) from L-serine and tRNA(Sec): step 1/1. SUBUNIT: Homodimer. The tRNA molecule binds across the dimer (By similarity). INTERACTION: Q9UHX1:PUF60; NbExp=1; IntAct=EBI-1049768, EBI-1053259; SUBCELLULAR LOCATION: Mitochondrion matrix (By similarity). DOMAIN: Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding (By similarity). DISEASE: Defects in SARS2 are the cause of hyperuricemia pulmonary hypertension renal failure and alkalosis (HUPRA) [MIM:613845]. HUPRA is 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. SIMILARITY: Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily. SEQUENCE CAUTION: Sequence=AAH01020.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00587 - tRNA synthetase class II core domain (G, H, P, S and T)
ModBase Predicted Comparative 3D Structure on Q9NP81
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
