Details for: AARS1

Gene ID: 16

Symbol: AARS1

Ensembl ID: ENSG00000090861

Description: alanyl-tRNA synthetase 1

Associated with

  • Alanine-trna ligase activity
  • Alanyl-trna aminoacylation
  • Amino acid binding
  • Aminoacyl-trna editing activity
  • Aminoacyl-trna metabolism involved in translational fidelity
  • Atp binding
  • Cerebellar purkinje cell layer development
  • Cytoplasm
  • Cytosol
  • Cytosolic trna aminoacylation
  • Extracellular exosome
  • Membrane
  • Metabolism of proteins
  • Mitochondrion
  • Negative regulation of neuron apoptotic process
  • Neuromuscular process controlling balance
  • Neuron apoptotic process
  • Regulation of cytoplasmic translational fidelity
  • Ser-trna(ala) hydrolase activity
  • Translation
  • Trna aminoacylation
  • Trna aminoacylation for protein translation
  • Trna binding
  • Trna modification
  • Trna processing
  • Zinc ion binding
**Summary:** AARS1 is a protein that is involved in the synthesis of amino acids. It is expressed in a variety of cell types, including dopaminergic neurons, extravillous trophoblast, L2/3-6 intratelencephalic projecting glutamatergic neuron, GABAergic amacrine cell, near-projecting glutamatergic cortical neuron, caudal ganglionic eminence derived GABAergic cortical interneuron, IgG plasmablast, lamp5 GABAergic cortical interneuron, cardiac muscle cell, and pvalb GABAergic cortical interneuron. **Key characteristics:** - AARS1 is a transmembrane protein with a molecular weight of approximately 110 kDa. - It is expressed in high levels in the brain and other organs with high metabolic activity. - AARS1 is a key enzyme in the biosynthesis of several amino acids, including alanine, serine, and threonine. **Pathways and functions:** - AARS1 is involved in the Alanine-trna ligase activity, Alanyl-trna aminoacylation, Amino acid binding, Aminoacyl-trna editing activity, Atp binding, Cerebellar purkinje cell layer development, Cytosolic trna aminoacylation, Metabolism of proteins, Ser-trna(ala) hydrolase activity, Translation, Trna aminoacylation, Trna aminoacylation for protein translation, Trna binding, Trna modification, Trna processing, Zinc ion binding **Clinical significance:** Mutations in AARS1 have been linked to a number of human diseases, including autism, schizophrenia, and developmental disorders. These mutations can lead to the accumulation of abnormal amino acids in the brain, which can disrupt normal cellular function. This can result in a variety of symptoms, including intellectual disability, behavioral problems, and seizures.


Only first 5 entries are kept for 'singleCellExpressions', 'mRNAExpressions' and other large data arrays.