RARS1 (arginyl-tRNA synthetase 1)

2014-08-01  

Identity

HGNC
LOCATION
5q34
LOCUSID
ALIAS
ArgRS,DALRD1,HLD9,RARS

Other Information

Locus ID:

NCBI: 5917
MIM: 107820
HGNC: 9870
Ensembl: ENSG00000113643

Variants:

dbSNP: 5917
ClinVar: 5917
TCGA: ENSG00000113643
COSMIC: RARS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113643ENST00000231572P54136
ENSG00000113643ENST00000520013E5RJM9
ENSG00000113643ENST00000521329E5RI24
ENSG00000113643ENST00000522834E5RH09
ENSG00000113643ENST00000626454E5RI24

Pathways

PathwaySourceExternal ID
Aminoacyl-tRNA biosynthesisKEGGko00970
Aminoacyl-tRNA biosynthesisKEGGhsa00970
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
Selenoamino acid metabolismREACTOMER-HSA-2408522
SeMet incorporation into proteinsREACTOMER-HSA-2408517

References

Pubmed IDYearTitleCitations
335154342021Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease.7
335154342021Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease.7
318143142020RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.13
318143142020RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.13
291335732018The RARS-MAD1L1 Fusion Gene Induces Cancer Stem Cell-like Properties and Therapeutic Resistance in Nasopharyngeal Carcinoma.31
300063462018Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.7
291335732018The RARS-MAD1L1 Fusion Gene Induces Cancer Stem Cell-like Properties and Therapeutic Resistance in Nasopharyngeal Carcinoma.31
300063462018Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.7
289058802017Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.17
289058802017Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.17
257246512015The N terminus of pro-endothelial monocyte-activating polypeptide II (EMAP II) regulates its binding with the C terminus, arginyl-tRNA synthetase, and neurofilament light protein.2
257246512015The N terminus of pro-endothelial monocyte-activating polypeptide II (EMAP II) regulates its binding with the C terminus, arginyl-tRNA synthetase, and neurofilament light protein.2
247779412014Mutations in RARS cause hypomyelination.49
248590842014The crystal structure of arginyl-tRNA synthetase from Homo sapiens.7
248982512014The mRNA of human cytoplasmic arginyl-tRNA synthetase recruits prokaryotic ribosomes independently.3

Citation

Dessen P

RARS1 (arginyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54573/rars1-(arginyl-trna-synthetase-1)