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LARS1

Domain

The structure of cytoplasmic leucine-tRNA ligase includes four main functional domains: the Rossmann-fold aminoacylation domain, the editing domain known as connective peptide 1 (CP1), the anticodon binding domain for tRNA recognition, and the vertebrate C-terminal (VC) domain for tRNA binding.

Function

Aminoacyl-tRNA synthetase that catalyzes the specific attachment of leucine to its cognate tRNA (tRNA(Leu)) (PubMed:25051973, PubMed:32232361). It performs tRNA aminoacylation in a two-step reaction: Leu is initially activated by ATP to form a leucyl-adenylate (Leu-AMP) intermediate; then the leucyl moiety is transferred to the acceptor 3' end of the tRNA to yield leucyl-tRNA (PubMed:25051973). To improve the fidelity of catalytic reactions, it is also able to hydrolyze misactivated aminoacyl-adenylate intermediates (pre-transfer editing) and mischarged aminoacyl-tRNAs (post-transfer editing) (PubMed:25051973).

Involvement in disease

Infantile liver failure syndrome 1

ILFS1

A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the class-I aminoacyl-tRNA synthetase family.

Cellular localization

Alternative names

KIAA1352, LARS, LARS1, Leucyl-tRNA synthetase, LeuRS, cLRS

swissprot:Q9P2J5 omim:151350 entrezGene:51520