AARS1 (alanyl-tRNA synthetase 1)

2014-11-01  

Identity

HGNC
AARS1
LOCATION
16q22.1
LOCUSID
16
ALIAS
AARS,CMT2N,DEE29,EIEE29
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 16
MIM: 601065
HGNC: 20
Ensembl: ENSG00000090861

Variants:

dbSNP: 16
ClinVar: 16
TCGA: ENSG00000090861
COSMIC: AARS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090861ENST00000261772P49588
ENSG00000090861ENST00000565361H3BPK7

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

References

Pubmed IDYearTitleCitations
200451022010A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.82
215493442011Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.78
220095802012A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).41
258170152015Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.37
254224402014Deficiencies in tRNA synthetase editing activity cause cardioproteinopathy.34
225736282012Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.23
259046912015A novel AARS mutation in a family with dominant myeloneuropathy.15
260322302015Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.11
279118352016Two crystal structures reveal design for repurposing the C-Ala domain of human AlaRS.6
301248302018Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.6

Citation

Dessen P

AARS1 (alanyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60019/aars1-(alanyl-trna-synthetase-1)