Property Summary

NCBI Gene PubMed Count 45
Grant Count 107
R01 Count 50
Funding $23,000,787.1
PubMed Score 388.41
PubTator Score 94.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Multiple myeloma 1.690 0.001
juvenile dermatomyositis 1.070 0.000
non-small cell lung cancer 1.228 0.000
lung cancer 1.100 0.001
ovarian cancer 2.800 0.000

Synonym

Accession P41250 B3KQA2 B4DIA0 Q969Y1
Symbols HMN5
CMT2D
DSMAV
GlyRS
SMAD1

Gene

PANTHER Protein Class (2)

PDB

2PME   2PMF   2Q5H   2Q5I   2ZT5   2ZT6   2ZT7   2ZT8   2ZXF   4KQE   4KR2   4KR3   4QEI   5E6M  

Gene RIF (27)

PMID Text
26797133 This study reports two crystal structures of human GlyRS variants, in the free form and in complex with tRNA(Gly) respectively, and reveal new aspects of the glycylation mechanism.
26327585 one of the mRNAs isoforms tightly controls expression and localization of human GARS.
26244500 GARS mutations are an uncommon cause of Charcot-Marie-Tooth Disease (CMT) in Taiwan. The p.Asp146Tyr and p.Met238Arg mutations are associated with early-onset axonal CMT.
26138142 Expression of three CMT-mutant GARS proteins in Drosophila induces defects in motor performance and motor and sensory neuron morphology, and shortens lifespan.
26000875 The c.999G>T mutation is a novel mutation of the glycyl-tRNA synthetase gene that has not been previously reported. The phenotype of this family is Charcot-Marie-Tooth disease type 2D, which is first reported in Chinese population.
25972375 Our findings suggest that mutant GlyRS gains access to ectopic sub-compartments of the motor neuron, providing a possible explanation for the selective neuropathology caused by mutations in a widely expressed gene.
25218976 we propose that the disease-causing L129P mutant of glycyl-tRNA synthetase is linked to a distribution defect in peripheral nerves in vivo.
25168514 our data indicate that impaired function is a key component of GARS-mediated CMT disease and emphasize the need for careful genetic and functional evaluation before implicating a variant in disease onset.
24898252 Report crystal structures of wild type and mutant GlyRS in complex with tRNA and with small substrates and describe the molecular details of enzymatic recognition of the key tRNA identity elements in the acceptor stem and the anticodon loop.
24807208 This study presents genetic evidence for common mutant-specific interactions between two CMT-associated aminoacyl-tRNA synthetases, lending support for a shared mechanism responsible for the synthetase-induced peripheral neuropathies.
More...

AA Sequence

MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPISLPAAASRSSMDGAGAEEVLAPLRLA      1 - 70
VRQQGDLVRKLKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVDRAKMEDTLKRRFFYDQAFAI     71 - 140
YGGVSGLYDFGPVGCALKNNIIQTWRQHFIQEEQILEIDCTMLTPEPVLKTSGHVDKFADFMVKDVKNGE    141 - 210
CFRADHLLKAHLQKLMSDKKCSVEKKSEMESVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNL    211 - 280
MFKTFIGPGGNMPGYLRPETAQGIFLNFKRLLEFNQGKLPFAAAQIGNSFRNEISPRSGLIRVREFTMAE    281 - 350
IEHFVDPSEKDHPKFQNVADLHLYLYSAKAQVSGQSARKMRLGDAVEQGVINNTVLGYFIGRIYLYLTKV    351 - 420
GISPDKLRFRQHMENEMAHYACDCWDAESKTSYGWIEIVGCADRSCYDLSCHARATKVPLVAEKPLKEPK    421 - 490
TVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDECYITEMEMLLNEKGEFTIETEGKTFQLTKDMINVKR    491 - 560
FQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDEQRTFFSFPAVVAPFKCSVLPLSQNQEFMPF    561 - 630
VKELSEALTRHGVSHKVDDSSGSIGRRYARTDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQIRAEIS    631 - 700
ELPSIVQDLANGNITWADVEARYPLFEGQETGKKETIEE                                   701 - 739
//

Text Mined References (49)

PMID Year Title
26797133 2016 Large Conformational Changes of Insertion 3 in Human Glycyl-tRNA Synthetase (hGlyRS) during Catalysis.
26327585 2015 Elaborate uORF/IRES features control expression and localization of human glycyl-tRNA synthetase.
26244500 2015 Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
26138142 2015 Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.
26000875 2015 A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family.
25972375 2015 Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25218976 2014 GRS defective axonal distribution as a potential contributor to distal spinal muscular atrophy type V pathogenesis in a new model of GRS-associated neuropathy.
25168514 2014 Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
24898252 2014 Cocrystal structures of glycyl-tRNA synthetase in complex with tRNA suggest multiple conformational states in glycylation.
More...