QARS1 (glutaminyl-tRNA synthetase 1)

2014-11-01  

Identity

HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
GLNRS,MSCCA,PRO2195,QARS

Other Information

Locus ID:

NCBI: 5859
MIM: 603727
HGNC: 9751
Ensembl: ENSG00000172053

Variants:

dbSNP: 5859
ClinVar: 5859
TCGA: ENSG00000172053
COSMIC: QARS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172053ENST00000306125P47897
ENSG00000172053ENST00000414533P47897
ENSG00000172053ENST00000418549F2Z2V6
ENSG00000172053ENST00000430182F2Z2V6
ENSG00000172053ENST00000452739C9J165
ENSG00000172053ENST00000453392H7C0R3
ENSG00000172053ENST00000464962B4DDN1
ENSG00000172053ENST00000466179A0A0U1RRC8
ENSG00000172053ENST00000487495A0A0U1RR79
ENSG00000172053ENST00000494767A0A0U1RQU2
ENSG00000172053ENST00000634336A0A0U1RQX9
ENSG00000172053ENST00000634432A0A0U1RQQ5
ENSG00000172053ENST00000634473A0A0U1RQX5
ENSG00000172053ENST00000634527A0A0U1RQJ6
ENSG00000172053ENST00000634602A0A0U1RQM8
ENSG00000172053ENST00000634802A0A0U1RQC3
ENSG00000172053ENST00000635052F2Z2V6
ENSG00000172053ENST00000635194A0A0U1RQE9
ENSG00000172053ENST00000635231A0A0U1RRI9
ENSG00000172053ENST00000635292A0A0U1RQL2
ENSG00000172053ENST00000635443A0A0U1RQT0
ENSG00000172053ENST00000635494F2Z2V6
ENSG00000172053ENST00000635541A0A0U1RR66
ENSG00000172053ENST00000635622A0A0U1RRJ7
ENSG00000172053ENST00000636018A0A1B0GU21
ENSG00000172053ENST00000636669A0A1B0GVU9
ENSG00000172053ENST00000637281A0A1B0GTT3

Pathways

PathwaySourceExternal ID
Aminoacyl-tRNA biosynthesisKEGGko00970
Aminoacyl-tRNA biosynthesisKEGGhsa00970
Metabolic pathwaysKEGGhsa01100
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGhsa_M00359
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGM00359
Gene ExpressionREACTOMER-HSA-74160
tRNA AminoacylationREACTOMER-HSA-379724
Cytosolic tRNA aminoacylationREACTOMER-HSA-379716
Mitochondrial tRNA aminoacylationREACTOMER-HSA-379726
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Selenoamino acid metabolismREACTOMER-HSA-2408522
SeMet incorporation into proteinsREACTOMER-HSA-2408517

References

Pubmed IDYearTitleCitations
246568662014Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.43
252887752014Structure of the ArgRS-GlnRS-AIMP1 complex and its implications for mammalian translation.14
254715172015Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.11
240032302013Regulated capture by exosomes of mRNAs for cytoplasmic tRNA synthetases.8
268695822016The crystal structure of human GlnRS provides basis for the development of neurological disorders.5
272409792016Human cytomegalovirus-encoded miR-US4-1 promotes cell apoptosis and benefits discharge of infectious virus particles by targeting QARS.2
286208702017Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.2

Citation

Dessen P

QARS1 (glutaminyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72437/qars1