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RARS1

Domain

The alpha-helical N-terminus (residues 1-72) mediates interaction with AIMP1 and thereby contributes to the assembly of the multisynthetase complex.

Function

Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis (PubMed:25288775). Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1 (PubMed:17443684).

Involvement in disease

Leukodystrophy, hypomyelinating, 9

HLD9

An autosomal recessive neurodegenerative disorder characterized by delayed psychomotor development, severe spasticity, nystagmus, and ataxia associated with diffuse hypomyelination apparent on brain MRI.

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

RARS, RARS1, Arginyl-tRNA synthetase, ArgRS

swissprot:P54136 omim:107820 entrezGene:5917