GENE NAME | GARS1 |
CHROMOSOME | 7 |
ENSEMBL ID | ENSG00000106105 |
ENTREZ ID | 2617 |
UNIPROT ACCESSION NUMBER | P41250 |
GO MOLECULAR FUNCTION | bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity; protein binding; identical protein binding; glycine-tRNA ligase activity; ATP binding; protein dimerization activity; transferase activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-379726; R-HSA-72766; R-HSA-392499; hsa00970; R-HSA-379716; R-HSA-379724 |
3 combinations linked to GARS1 | OLI947; OLI949; OLI948 |
3 variants linked to GARS1 | GARS1:c.479C>G, p.Ala160Gly; GARS1:c.684C>G, p.Phe228Leu; GARS1:c.2171C>A, p.Pro724His |
1 disease linked to GARS1 | Amyotrophic lateral sclerosis |