This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]
Subunit:
Component of the multisynthetase complex which is comprised of a bifunctional glutamyl-prolyl-tRNA synthetase, the monospecific isoleucyl, leucyl, glutaminyl, methionyl, lysyl, arginyl, and aspartyl-tRNA synthetases as well as three auxiliary proteins, p18, p48 and p43.
Subcellular Location:
Cytoplasm.
DISEASE:
Infantile liver failure syndrome 2 (ILFS2) [MIM:615486]: A life-threatening disorder of hepatic function that manifests with liver failure in the first months of life. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, anemia, liver canalicular cholestasis, steatosis, and iron deposition. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the class-I aminoacyl-tRNA synthetase family.
Contains 1 GST SLCterminal domain.
Contains 1 WHEP-TRS domain.
SWISS:
P56192
Gene ID:
4141
Database links:
Entrez Gene: 4141 Human
Entrez Gene: 216443 Mouse
Entrez Gene: 299851 Rat
Omim: 156560 Human
SwissProt: P56192 Human
SwissProt: Q68FL6 Mouse
Unigene: 632707 Human
Unigene: 28173 Mouse
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