GARS1
entrez
2617
canonical
uniprot
P41250
canonical
ensembl
ENSG00000106105
resolver
ensp
ENSP00000373918
resolver
ensp
ENSP00000502174
resolver
genesymbol
GARS1
resolver
genesymbol_syn
GARS
resolver
hgnc
HGNC:4162
resolver
uniprot
A0A090N8G0
resolver
uniprot
B3KQA2
resolver
uniprot
B4DIA0
resolver
uniprot
Q969Y1
resolver
uniprot_entry
GARS_HUMAN
resolver
uniprot_sec
A0A090N8G0
resolver
uniprot_sec
B3KQA2
resolver
uniprot_sec
B4DIA0
resolver
uniprot_sec
Q969Y1
resolver
activity_regulation
ACTIVITY REGULATION: Ap4A synthesis is inhibited by tRNA, via the disruption of the second ATP-binding site by direct blocking and/or by tRNA-induced conformational change. {ECO:0000269|PubMed:19710017}.
uniprot
proteins
amino_acid_sequence
MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPISLPAAASRSSMDGAGAEEVLAPLRLAVRQQGDLVRKLKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVDRAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNNIIQTWRQHFIQEEQILEIDCTMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLLKAHLQKLMSDKKCSVEKKSEMESVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPETAQGIFLNFKRLLEFNQGKLPFAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEKDHPKFQNVADLHLYLYSAKAQVSGQSARKMRLGDAVEQGVINNTVLGYFIGRIYLYLTKVGISPDKLRFRQHMENEMAHYACDCWDAESKTSYGWIEIVGCADRSCYDLSCHARATKVPLVAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDECYITEMEMLLNEKGEFTIETEGKTFQLTKDMINVKRFQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDEQRTFFSFPAVVAPFKCSVLPLSQNQEFMPFVKELSEALTRHGVSHKVDDSSGSIGRRYARTDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQIRAEISELPSIVQDLANGNITWADVEARYPLFEGQETGKKETIEE
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, axonal, type 2D (CMT2D) [MIM:601472]: A dominant 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 degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269|PubMed:12690580, ECO:0000269|PubMed:17035524, ECO:0000269|PubMed:17101916, ECO:0000269|PubMed:17663003, ECO:0000269|PubMed:20169446, ECO:0000269|PubMed:24604904, ECO:0000269|PubMed:25168514, ECO:0000269|PubMed:26244500, ECO:0000269|PubMed:26503042, ECO:0000269|PubMed:31173493}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neuronopathy, distal hereditary motor, autosomal dominant 5 (HMND5) [MIM:600794]: A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269|PubMed:12690580, ECO:0000269|PubMed:17035524, ECO:0000269|PubMed:23279345, ECO:0000269|PubMed:24627108, ECO:0000269|PubMed:26503042}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spinal muscular atrophy, infantile, James type (SMAJI) [MIM:619042]: An autosomal dominant form of spinal muscular atrophy, a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAJI is a severe disease characterized by hypotonia manifesting in the first weeks or months of life, delayed motor development, motor regression, and muscle weakness and atrophy primarily affecting distal muscles. Additional variable features include feeding difficulties, poor overall growth, foot deformities, kyphosis, hyperlordosis, scoliosis, vocal cord dysfunction, and respiratory insufficiency. {ECO:0000269|PubMed:32181591}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.-
uniprot
proteins
ec_number
6.1.1.14
uniprot
proteins
function
FUNCTION: Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP) (PubMed:17544401, PubMed:24898252, PubMed:28675565). Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasis (PubMed:19710017). {ECO:0000269|PubMed:17544401, ECO:0000269|PubMed:19710017, ECO:0000269|PubMed:24898252, ECO:0000269|PubMed:28675565}.
uniprot
proteins
mass_dalton
83166
uniprot
proteins
mutagenesis
MUTAGEN 121; /note="R->A: Decrease in catalytic activity by about 10-fold."; /evidence="ECO:0000269|PubMed:24898252"; MUTAGEN 211; /note="C->R: Displays 62% of wild-type catalytic activity. Displays 20% of wild-type catalytic activity; when associated with G-125."; /evidence="ECO:0000269|PubMed:26797133"; MUTAGEN 337; /note="R->A: Decrease in catalytic activity by more than 10-fold."; /evidence="ECO:0000269|PubMed:24898252"; MUTAGEN 486..490; /note="Missing: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:26797133"; MUTAGEN 602; /note="R->A: Decrease in catalytic activity by more than 10-fold."; /evidence="ECO:0000269|PubMed:24898252"; MUTAGEN 658; /note="Y->F: Decrease in catalytic activity by more than 10-fold."; /evidence="ECO:0000269|PubMed:24898252"; MUTAGEN 729; /note="Q->A,N: Decrease in catalytic activity by about 10-fold."; /evidence="ECO:0000269|PubMed:24898252
uniprot
proteins
protein_family
Class-II aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12690580
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17035524
uniprot
proteins
pubmed
17101916
uniprot
proteins
pubmed
17529987
uniprot
proteins
pubmed
17544401
uniprot
proteins
pubmed
17545306
uniprot
proteins
pubmed
17663003
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19710017
uniprot
proteins
pubmed
20169446
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23279345
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24604904
uniprot
proteins
pubmed
24627108
uniprot
proteins
pubmed
24898252
uniprot
proteins
pubmed
25168514
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26244500
uniprot
proteins
pubmed
26327585
uniprot
proteins
pubmed
26503042
uniprot
proteins
pubmed
26789244
uniprot
proteins
pubmed
26797133
uniprot
proteins
pubmed
27261259
uniprot
proteins
pubmed
28594869
uniprot
proteins
pubmed
28675565
uniprot
proteins
pubmed
31173493
uniprot
proteins
pubmed
32181591
uniprot
proteins
pubmed
7753621
uniprot
proteins
pubmed
7961834
uniprot
proteins
pubmed
7962006
uniprot
proteins
sequence_length
739
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17035524}. Cell projection, axon {ECO:0000269|PubMed:17035524}. Secreted {ECO:0000250|UniProtKB:Q9CZD3}. Secreted, extracellular exosome {ECO:0000250|UniProtKB:Q9CZD3}. Note=In transfected COS7 cells, not detected in mitochondria, nor in Golgi apparatus (PubMed:17035524). Secreted by motor neuron, possibly through the exosome pathway (By similarity). {ECO:0000250|UniProtKB:Q9CZD3, ECO:0000269|PubMed:17035524}.; SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion {ECO:0000269|PubMed:17529987, ECO:0000269|PubMed:26327585}. Cytoplasm {ECO:0000269|PubMed:26327585}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:17529987, ECO:0000269|PubMed:26327585}. Cell projection, axon {ECO:0000269|PubMed:25168514}.
uniprot
proteins