DARS1 (aspartyl-tRNA synthetase 1)

2014-11-01  

Identity

HGNC
DARS1
LOCATION
2q21.3
LOCUSID
1615
ALIAS
DARS,HBSL,aspRS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1615
MIM: 603084
HGNC: 2678
Ensembl: ENSG00000115866

Variants:

dbSNP: 1615
ClinVar: 1615
TCGA: ENSG00000115866
COSMIC: DARS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115866ENST00000264161P14868
ENSG00000115866ENST00000264161A0A140VJW5
ENSG00000115866ENST00000422708H7BZ35
ENSG00000115866ENST00000435076H7C278
ENSG00000115866ENST00000441323C9JLC1
ENSG00000115866ENST00000449218C9JQM9
ENSG00000115866ENST00000456565C9J7S3

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
128240642003Structure of the N-terminal extension of human aspartyl-tRNA synthetase: implications for its biological function.6
300063462018Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.1
236099302013Crystal structure of human cytosolic aspartyl-tRNA synthetase, a component of multi-tRNA synthetase complex.0
236433842013Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.0
278713312016Association of DARS gene polymorphisms with the risk of isolated ventricular septal defects in the Chinese Han population.0

Citation

Dessen P

DARS1 (aspartyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62291/dars1