Gars1 glycyl-tRNA synthetase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gars1provided by MGI
Official Full Name: glycyl-tRNA synthetase 1provided by MGI
Primary source: MGI:MGI:2449057
See related: Ensembl:ENSMUSG00000029777 AllianceGenome:MGI:2449057
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gars; Nmf249; Sgrp23; GENA202; Gena201
Summary: Enables glycine-tRNA ligase activity. Acts upstream of or within glycyl-tRNA aminoacylation. Located in extracellular exosome and secretory granule. Is expressed in several structures, including alimentary system; cardiovascular system; nervous system; respiratory system; and urinary system. Used to study Charcot-Marie-Tooth disease type 2D. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2D and distal hereditary motor neuronopathy type 5A. Orthologous to human GARS1 (glycyl-tRNA synthetase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 46.2), CNS E18 (RPKM 40.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 B3; 6 27.29 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (55014986..55056489)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (55038001..55079504)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Extracellular vesicles derived from macrophages display glycyl-tRNA synthetase 1 and exhibit anti-cancer activity.
Title: Extracellular vesicles derived from macrophages display glycyl-tRNA synthetase 1 and exhibit anti-cancer activity.
ignificant alterations of the vesicle-associated membrane protein-associated protein B (VAPB) and its downstream pathways such as mitochondrial calcium uptake and autophagy were detected in dominant GARS mutations. The role of VAPB has been supported by similar results in the GarsC210R mice. Our data suggest that altered mitochondria-associated endoplasmic reticulum (ER) membranes (MAM) may be important disease mechanisms
Title: Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.
Gars mutations are associated with Charcot-Marie-Tooth disease type 2D.
Title: Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.
Results link the aberrant GlyRS-HDAC6 interaction to Charcot-Marie-Tooth disease type 2D pathology and suggest HDAC6 as an effective therapeutic target.
Title: Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.
findings link the selective pathology of Charcot-Marie-Tooth disease type 2D to the neomorphic binding activity of GlyRS(CMT2D) that antagonizes the VEGF-Nrp1 interaction, meaning the VEGF-Nrp1 signalling axis is an actionable target for treating CMT2D
Title: CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
These results suggest that this animal model of CMT using an adenovirus may provide information regarding CMT as well as a useful strategy for the treatment of neuropathic pain.
Title: Neuropathic pain model of peripheral neuropathies mediated by mutations of glycyl-tRNA synthetase.
Gars(C201R) mutation significantly delayed disease onset in the SOD1(G93A);Gars(C201R/+) double heterozygous mutant mice and increased lifespan by 29% on the genetic background investigated
Title: Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice.
a glycyl-tRNA synthetase (GARS) mutation causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy
Title: An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
Results indicate that Charcot-Marie-Tooth peripheral neuropathies, type 2D (CMT2D) phenotype is caused by novel pathogenic roles for the mutant GARS that specifically affect peripheral neurons.
Title: An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)
Gene trapped (1) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2049E (e-PCR)
- UniSTS:151112

Gars (e-PCR), detects polymorphism
- UniSTS:498302

Gars (e-PCR), detects polymorphism
- UniSTS:546786

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables aminoacyl-tRNA ligase activity	IEA Inferred from Electronic Annotation more info
enables bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity	ISO Inferred from Sequence Orthology more info
enables glycine-tRNA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycine-tRNA ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glycine-tRNA ligase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables ligase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in diadenosine tetraphosphate biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glycyl-tRNA aminoacylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial glycyl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA aminoacylation for protein translation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in secretory granule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: glycine--tRNA ligase

Names: AP-4-A synthetase; ap4A synthetase; diadenosine tetraphosphate synthetase; glyRS; storage granule protein 23

NP_851009.2

EC 6.1.1.14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.