SARS2 - seryl-tRNA synthetase 2, mitochondrial Gene
Also Known as SYS; SARS; SERS; SARSM; SerRS; SerRSmt; mtSerRS
Species: Homo sapiens
About SARS2
This gene has 14 transcripts (splice variants), 1 gene allele, 190 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 6.7), placenta (RPKM 5.6) and 25 other tissues.
Summary
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]
SARS2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001145901.2 | NP_001139373.1 | serine--tRNA ligase, mitochondrial isoform a precursor |
| NM_017827.4 | NP_060297.1 | serine--tRNA ligase, mitochondrial isoform b precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
SARS2 Protein Structure
tRNA-synt_2b: tRNA synthetase class II core domain (G, H, P, S and T) (239 - 411)
- 0
- 100
- 200
- 300
- 400
- 518 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
serine--tRNA ligase, mitochondrial |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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| Hyperuricemia |
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| Epithelioid Cell Synovial Sarcoma |
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| Pulmonary Hypertension |
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| Septal Myocardial Infarction |
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| Capillariasis |
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| Acute Stress Disorder |
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| Venezuelan Hemorrhagic Fever |
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| Joubert Syndrome 7 |
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| Perrault Syndrome |
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