QARS1 (glutaminyl-tRNA synthetase 1)

2014-11-01 Affiliation

Identity

HGNC

QARS1

LOCATION

3p21.31

LOCUSID

5859

ALIAS

GLNRS,MSCCA,PRO2195,QARS

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000172053	ENST00000306125	P47897
ENSG00000172053	ENST00000414533	P47897
ENSG00000172053	ENST00000418549	F2Z2V6
ENSG00000172053	ENST00000430182	F2Z2V6
ENSG00000172053	ENST00000452739	C9J165
ENSG00000172053	ENST00000453392	H7C0R3
ENSG00000172053	ENST00000464962	B4DDN1
ENSG00000172053	ENST00000466179	A0A0U1RRC8
ENSG00000172053	ENST00000487495	A0A0U1RR79
ENSG00000172053	ENST00000494767	A0A0U1RQU2
ENSG00000172053	ENST00000634336	A0A0U1RQX9
ENSG00000172053	ENST00000634432	A0A0U1RQQ5
ENSG00000172053	ENST00000634473	A0A0U1RQX5
ENSG00000172053	ENST00000634527	A0A0U1RQJ6
ENSG00000172053	ENST00000634602	A0A0U1RQM8
ENSG00000172053	ENST00000634802	A0A0U1RQC3
ENSG00000172053	ENST00000635052	F2Z2V6
ENSG00000172053	ENST00000635194	A0A0U1RQE9
ENSG00000172053	ENST00000635231	A0A0U1RRI9
ENSG00000172053	ENST00000635292	A0A0U1RQL2
ENSG00000172053	ENST00000635443	A0A0U1RQT0
ENSG00000172053	ENST00000635494	F2Z2V6
ENSG00000172053	ENST00000635541	A0A0U1RR66
ENSG00000172053	ENST00000635622	A0A0U1RRJ7
ENSG00000172053	ENST00000636018	A0A1B0GU21
ENSG00000172053	ENST00000636669	A0A1B0GVU9
ENSG00000172053	ENST00000637281	A0A1B0GTT3

Pathways

Pathway	Source	External ID
Aminoacyl-tRNA biosynthesis	KEGG	ko00970
Aminoacyl-tRNA biosynthesis	KEGG	hsa00970
Metabolic pathways	KEGG	hsa01100
Aminoacyl-tRNA biosynthesis, eukaryotes	KEGG	hsa_M00359
Aminoacyl-tRNA biosynthesis, eukaryotes	KEGG	M00359
Gene Expression	REACTOME	R-HSA-74160
tRNA Aminoacylation	REACTOME	R-HSA-379724
Cytosolic tRNA aminoacylation	REACTOME	R-HSA-379716
Mitochondrial tRNA aminoacylation	REACTOME	R-HSA-379726
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Selenoamino acid metabolism	REACTOME	R-HSA-2408522
SeMet incorporation into proteins	REACTOME	R-HSA-2408517

References

Pubmed ID	Year	Title	Citations
33256324	2020	[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].	0
33256324	2020	[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].	0
28620870	2017	Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.	4
28620870	2017	Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.	4
26869582	2016	The crystal structure of human GlnRS provides basis for the development of neurological disorders.	9
27240979	2016	Human cytomegalovirus-encoded miR-US4-1 promotes cell apoptosis and benefits discharge of infectious virus particles by targeting QARS.	8
26869582	2016	The crystal structure of human GlnRS provides basis for the development of neurological disorders.	9
27240979	2016	Human cytomegalovirus-encoded miR-US4-1 promotes cell apoptosis and benefits discharge of infectious virus particles by targeting QARS.	8
25471517	2015	Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.	13
25471517	2015	Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.	13
24656866	2014	Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.	62
25288775	2014	Structure of the ArgRS-GlnRS-AIMP1 complex and its implications for mammalian translation.	28
24656866	2014	Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.	62
25288775	2014	Structure of the ArgRS-GlnRS-AIMP1 complex and its implications for mammalian translation.	28
24003230	2013	Regulated capture by exosomes of mRNAs for cytoplasmic tRNA synthetases.	11

Citation

Dessen P

QARS1 (glutaminyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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