QRSL1 (glutaminyl-tRNA amidotransferase subunit QRSL1)

2003-12-01  

Identity

HGNC
LOCATION
6q21
LOCUSID
ALIAS
COXPD40,GatA
FUSION GENES

Other Information

Locus ID:

NCBI: 55278
MIM: 617209
HGNC: 21020
Ensembl: ENSG00000130348

Variants:

dbSNP: 55278
ClinVar: 55278
TCGA: ENSG00000130348
COSMIC: QRSL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130348ENST00000369044X6R772
ENSG00000130348ENST00000369046Q9H0R6

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Aminoacyl-tRNA biosynthesisKEGGko00970
Aminoacyl-tRNA biosynthesisKEGGhsa00970
Metabolic pathwaysKEGGhsa01100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198052822009Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.34
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.21
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
294407752018Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.8

Citation

Dessen P

QRSL1 (glutaminyl-tRNA amidotransferase subunit QRSL1)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41954/qrsl1