alanyl-tRNA synthetase 1

Summary
Gene Symbol
  • AARS1
Organism
Homo sapiens (human)
NCBI Gene
16
PubChem
16
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Acetylation
  • Alternative splicing
  • Aminoacyl-tRNA synthetase
  • Charcot-Marie-Tooth disease
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Epilepsy
  • Metal-binding
  • Methylation
  • Neurodegeneration
  • Phosphoprotein
  • Protein biosynthesis
  • Reference proteome
  • Ubl conjugation
  • Zinc
  • tRNA-binding
Proteins
Displaying 1 entry
UniProt Protein Name
P49588
  • Alanyl-tRNA synthetase
  • Renal carcinoma antigen NY-REN-42
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying all 9 entries
DO ID Disease Name Source
DOID:0050753 cerebellar ataxia
DOID:0080451 developmental and epileptic encephalopathy 29
DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N
DOID:0111866 trichothiodystrophy
DOID:10223 dermatomyositis
DOID:10579 leukodystrophy
DOID:10595 Charcot-Marie-Tooth disease
DOID:10907 microcephaly
DOID:7319 axonal neuropathy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024