Glutaminyl-tRNA Synthetase 1

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OMIM Number

603727

NCBI Gene ID

5859

Uniprot ID

P47897

Length

8,826 bases

No. of Exons

24

No. of isoforms

2

Protein Name

Glutamine--tRNA ligase

Molecular Mass

87799 Da

Amino Acid Count

775

Genomic Location

chr3:49,095,931-49,104,756

Gene Map Locus
3p21.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_005051.3:c.1058G>TUnited Arab EmiratesNC_000003.12:g.49100296C>APathogenicMicrocephaly, Progressive, with Seizures and Cerebral and Cerebellar AtrophyNG_042312.1:g.9834G>T; NM_005051.3:c.1058G>T; NP_005042.1:p.Gly353Val752600100828125
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