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Histidyl-tRNA synthetase 1 (HARS1)
- Target
- HARS1
- Molecular classification
- Enzyme, Aminoacyl-tRNA synthetase, Class II aminoacyl-tRNA synthetase
01
Overview
Histidyl-tRNA synthetase 1 (HARS1) is a cytoplasmic enzyme that catalyzes the ATP-dependent attachment of histidine to its cognate tRNA (tRNA^His), a critical early step in protein synthesis[1][2][3][8]. HARS1 belongs to the class II aminoacyl-tRNA synthetase family and functions as a homodimer. It is essential for accurate translation of the genetic code into protein. The HARS1 gene is located on chromosome 5 in humans. Clinically, HARS1 serves as the Jo-1 antigen, a major autoantigen in antisynthetase syndrome (notably in polymyositis and dermatomyositis), and is associated with inherited disorders such as Charcot-Marie-Tooth disease and Usher syndrome type 3B when mutated[4][1].
- Other names
- Histidine--tRNA ligase, cytoplasmicHARSHRSHisRSJo-1 antigenhistidine tRNA ligase 1, cytoplasmichistidyl-tRNA synthetaseCMT2WUSH3Bhistidine translase
02
Biological functions
Charges tRNA with the amino acid histidine in the cytoplasmCatalyzes the ligation of histidine to tRNA (protein translation initiation)Essential for protein biosynthesistRNA aminoacylation (ATP-dependent)
03
Disease associations
Autoimmunity (Jo-1 antigen in polymyositis/dermatomyositis)Genetic peripheral neuropathies (Charcot-Marie-Tooth disease, CMT2W)Usher syndrome type 3B (USH3B)Multisystem ataxic syndrome
04
Safety considerations
Autoantigenicity (risk of autoimmunity if targeted)Genetic mutations can cause severe neurological and multisystem disorders[4]
05
Biomarkers
Anti-Jo-1 antibody for diagnosis of antisynthetase syndrome (polymyositis/dermatomyositis)[1]
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