EPRS1 (glutamyl-prolyl-tRNA synthetase 1)

2019-08-01  

Identity

HGNC
EPRS1
LOCATION
1q41
LOCUSID
2058
ALIAS
EARS,EPRS,GLUPRORS,HLD15,PARS,PIG32,QARS,QPRS

Other Information

Locus ID:

NCBI: 2058
MIM: 138295
HGNC: 3418
Ensembl: ENSG00000136628

Variants:

dbSNP: 2058
ClinVar: 2058
TCGA: ENSG00000136628
COSMIC: EPRS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136628ENST00000366923P07814
ENSG00000136628ENST00000477030V9GZ76
ENSG00000136628ENST00000609181V9GYZ6

Pathways

PathwaySourceExternal ID
Porphyrin and chlorophyll metabolismKEGGko00860
Aminoacyl-tRNA biosynthesisKEGGko00970
Porphyrin and chlorophyll metabolismKEGGhsa00860
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
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
tRNA processingREACTOMER-HSA-72306
tRNA modification in the nucleus and cytosolREACTOMER-HSA-6782315
Selenoamino acid metabolismREACTOMER-HSA-2408522
SeMet incorporation into proteinsREACTOMER-HSA-2408517

References

Pubmed IDYearTitleCitations
383207212024Glutamyl-prolyl-tRNA synthetase (EPRS1) drives tubulointerstitial nephritis-induced fibrosis by enhancing T cell proliferation and activity.0
387693042024Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m(6)A site accessibility.0
383207212024Glutamyl-prolyl-tRNA synthetase (EPRS1) drives tubulointerstitial nephritis-induced fibrosis by enhancing T cell proliferation and activity.0
387693042024Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m(6)A site accessibility.0
366314352023Prolyl-tRNA synthetase as a novel therapeutic target in multiple myeloma.4
366314352023Prolyl-tRNA synthetase as a novel therapeutic target in multiple myeloma.4
345372432021Disease-associated mutations in a bifunctional aminoacyl-tRNA synthetase gene elicit the integrated stress response.11
345372432021Disease-associated mutations in a bifunctional aminoacyl-tRNA synthetase gene elicit the integrated stress response.11
326112372020Glutamyl-Prolyl-tRNA Synthetase Regulates Proline-Rich Pro-Fibrotic Protein Synthesis During Cardiac Fibrosis.38
326112372020Glutamyl-Prolyl-tRNA Synthetase Regulates Proline-Rich Pro-Fibrotic Protein Synthesis During Cardiac Fibrosis.38
295762172018Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.45
296431802018Structural control of caspase-generated glutamyl-tRNA synthetase by appended noncatalytic WHEP domains.7
295762172018Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.45
296431802018Structural control of caspase-generated glutamyl-tRNA synthetase by appended noncatalytic WHEP domains.7
276124292016EPRS is a critical regulator of cell proliferation and estrogen signaling in ER+ breast cancer.28

Citation

Dessen P

EPRS1 (glutamyl-prolyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58163/gene-fusions-explorer/deep-insight-explorer/tumors-explorer/