QARS gene

glutaminyl-tRNA synthetase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

From UniProt:

Plays a critical role in brain development.

From NCBI Gene:

  • Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

From UniProt:

Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA): A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia. [MIM:615760]

Cytogenetic Location: 3p21.31, which is the short (p) arm of chromosome 3 at position 21.31

Molecular Location: base pairs 49,095,932 to 49,105,129 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p21.31, which is the short (p) arm of chromosome 3 at position 21.31
  • GLNRS
  • MSCCA
  • PRO2195