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AARS
Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala- AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. Defects in AARS are the cause of Charcot-Marie-Tooth disease type 2N (CMT2N). It is an axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies(designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Belongs to the class-II aminoacyl-tRNA synthetase family. Note: This description may include information from UniProtKB.
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| Protein type: EC 6.1.1.7; Ligase; Translation |
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Cellular Component: cytoplasm; cytosol
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Molecular Function: amino acid binding; metal ion binding; alanine-tRNA ligase activity; ATP binding; tRNA binding
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Biological Process: skin development; protein folding; unfolded protein response; tRNA processing; cerebellar Purkinje cell layer development; tRNA modification; response to amino acid stimulus; tRNA aminoacylation for protein translation; hair follicle development; gene expression; negative regulation of neuron apoptosis; neuromuscular process controlling balance; alanyl-tRNA aminoacylation
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Reference #:
P49588 (UniProtKB)
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| Alt. Names/Synonyms: AARS; alanine tRNA ligase 1, cytoplasmic; Alanine--tRNA ligase; alanyl-tRNA synthetase; Alanyl-tRNA synthetase, cytoplasmic; AlaRS; CMT2N; Renal carcinoma antigen NY-REN-42; SYAC |
| Gene Symbols: AARS |
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Molecular weight: 106,810 Da
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Basal Isoelectric point: 5.34
Predict pI for various phosphorylation states
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