NARS1
Domain
The N-terminal domain (1-77) recruits and activates specific immune cells by interacting with CCR3-expressing cells.
Function
Catalyzes the attachment of asparagine to tRNA(Asn) in a two-step reaction: asparagine is first activated by ATP to form Asn-AMP and then transferred to the acceptor end of tRNA(Asn) (PubMed:32738225, PubMed:32788587, PubMed:9421509). In addition to its essential role in protein synthesis, acts as a signaling molecule that induced migration of CCR3-expressing cells (PubMed:12235211, PubMed:30171954). Has an essential role in the development of the cerebral cortex, being required for proper proliferation of radial glial cells (PubMed:32788587).
Involvement in disease
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
NEDMILG
An autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent in infancy, moderate to profound intellectual disability, poor or absent speech and language, delayed walking with variable gait abnormalities, and progressive microcephaly. Additional variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
NEDMILEG
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy, delayed walking, ataxia, spasticity, impaired intellectual development with poor or absent speech and language, progressive microcephaly, and early-onset seizures in most patients. Facial dysmorphism and a demyelinating peripheral neuropathy may also be observed.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class-II aminoacyl-tRNA synthetase family.
Cellular localization
- Cytoplasm
Alternative names
NARS, NRS, NARS1, Asparaginyl-tRNA synthetase, Asparaginyl-tRNA synthetase 1, AsnRS