Aliases for HARS1 Gene
External Ids for HARS1 Gene
Previous HGNC Symbols for HARS1 Gene
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
GeneCards Summary for HARS1 Gene
HARS1 (Histidyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with HARS1 include Charcot-Marie-Tooth Disease, Axonal, Type 2W and Usher Syndrome, Type Iiib. Among its related pathways are tRNA Aminoacylation and Allograft rejection. An important paralog of this gene is HARS2.
UniProtKB/Swiss-Prot Summary for HARS1 Gene
Catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP) (PubMed:29235198). Plays a role in axon guidance (PubMed:26072516).