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Aliases for GARS Gene

Aliases for GARS Gene

  • Glycyl-TRNA Synthetase 2 3 4
  • Diadenosine Tetraphosphate Synthetase 3 4
  • Charcot-Marie-Tooth Neuropathy 2D 2 3
  • Glycine TRNA Ligase 2 3
  • AP-4-A Synthetase 3 4
  • EC 6.1.1.14 4 64
  • SMAD1 3 6
  • CMT2D 3 6
  • GlyRS 3 4
  • HMN5 3 6
  • Charcot-Marie-Tooth Neuropathy, Neuronal Type, D 3
  • Glycine--TRNA Ligase 3
  • DSMAV 3

External Ids for GARS Gene

Previous Symbols for GARS Gene

  • CMT2D

Summaries for GARS Gene

Entrez Gene Summary for GARS Gene

  • This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. [provided by RefSeq, Jul 2008]

GeneCards Summary for GARS Gene

GARS (Glycyl-TRNA Synthetase) is a Protein Coding gene. Diseases associated with GARS include gars-associated axonal neuropathy and distal hereditary motor neuropathy type v. Among its related pathways are Signaling by GPCR and Heart Development. GO annotations related to this gene include protein dimerization activity and glycine-tRNA ligase activity.

UniProtKB/Swiss-Prot for GARS Gene

  • Catalyzes the attachment of glycine to tRNA(Gly). Is also able produce diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs.

Gene Wiki entry for GARS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GARS Gene

Genomics for GARS Gene

Genomic Location for GARS Gene

Start:
30,594,565 bp from pter
End:
30,634,033 bp from pter
Size:
39,469 bases
Orientation:
Plus strand

Genomic View for GARS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GARS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GARS Gene

Regulatory Elements for GARS Gene

Proteins for GARS Gene

  • Protein details for GARS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41250-SYG_HUMAN
    Recommended name:
    Glycine--tRNA ligase
    Protein Accession:
    P41250
    Secondary Accessions:
    • B3KQA2
    • B4DIA0
    • Q969Y1

    Protein attributes for GARS Gene

    Size:
    739 amino acids
    Molecular mass:
    83166 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAA57001.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAA86443.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GARS Gene

neXtProt entry for GARS Gene

Proteomics data for GARS Gene at MOPED

Post-translational modifications for GARS Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys108, Lys197, Lys309, Lys318, Lys379, Lys419, and Lys563

Other Protein References for GARS Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for GARS Gene

Gene Families for GARS Gene

HGNC:
  • aaRS2 :Aminoacyl tRNA synthetases / Class II

UniProtKB/Swiss-Prot:

SYG_HUMAN
Domain:
  • Contains 1 WHEP-TRS domain.:
    • P41250
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.:
    • P41250
genes like me logo Genes that share domains with GARS: view

Function for GARS Gene

Molecular function for GARS Gene

GENATLAS Biochemistry: glycyl-tRNA synthetase,target autoantibodies in the immune disease polymyositis/dermatomyositis
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=1.3 uM for tRNA(Gly(GCC)) {ECO:0000269 PubMed:17544401}; KM=15 uM for glycine {ECO:0000269 PubMed:17544401};
UniProtKB/Swiss-Prot CatalyticActivity: ATP + glycine + tRNA(Gly) = AMP + diphosphate + glycyl-tRNA(Gly)
UniProtKB/Swiss-Prot Function: Catalyzes the attachment of glycine to tRNA(Gly). Is also able produce diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs.

Enzyme Numbers (IUBMB) for GARS Gene

Gene Ontology (GO) - Molecular Function for GARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0004812 aminoacyl-tRNA ligase activity --
GO:0004820 glycine-tRNA ligase activity TAS --
GO:0005515 protein binding --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with GARS: view
genes like me logo Genes that share phenotypes with GARS: view

miRNA for GARS Gene

miRTarBase miRNAs that target GARS

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for GARS Gene

Localization for GARS Gene

Subcellular locations from UniProtKB/Swiss-Prot for GARS Gene

Cytoplasm. Mitochondrion. Cell projection, axon. Note=Associated with granules in cultured neuron cells. {ECO:0000269 PubMed:17035524}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GARS Gene COMPARTMENTS Subcellular localization image for GARS gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for GARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with GARS: view

Pathways for GARS Gene

genes like me logo Genes that share pathways with GARS: view

Gene Ontology (GO) - Biological Process for GARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006426 glycyl-tRNA aminoacylation IBA --
GO:0008219 cell death --
GO:0010467 gene expression TAS --
GO:0015966 diadenosine tetraphosphate biosynthetic process IDA 19710017
genes like me logo Genes that share ontologies with GARS: view

Compounds for GARS Gene

(5) HMDB Compounds for GARS Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Glycine
  • 2-Aminoacetate
56-40-6
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(1) Drugbank Compounds for GARS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Glycine
  • 2-Aminoacetic acid
56-40-6 target

(24) Novoseek inferred chemical compound relationships for GARS Gene

Compound -log(P) Hits PubMed IDs
trna(gly) 94 5
strychnine 80.9 10
picrotoxinin 72.3 4
aminoacyl-trna 71.9 2
trna 68.2 26
genes like me logo Genes that share compounds with GARS: view

Transcripts for GARS Gene

Unigene Clusters for GARS Gene

Glycyl-tRNA synthetase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GARS Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^
SP1: - - -
SP2: - - -
SP3: - -
SP4:
SP5: - - - - - - - -
SP6: - - -
SP7:
SP8:

ExUns: 16a · 16b ^ 17 ^ 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for GARS Gene

GeneLoc Exon Structure for
GARS
ECgene alternative splicing isoforms for
GARS

Expression for GARS Gene

mRNA expression in normal human tissues for GARS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GARS Gene

SOURCE GeneReport for Unigene cluster for GARS Gene Hs.404321

mRNA Expression by UniProt/SwissProt for GARS Gene

P41250-SYG_HUMAN
Tissue specificity: Widely expressed, including brain and spinal cord.
genes like me logo Genes that share expressions with GARS: view

Orthologs for GARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GARS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GARS 36
  • 99.46 (n)
  • 99.19 (a)
GARS 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GARS 36
  • 91.31 (n)
  • 94.62 (a)
GARS 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GARS 36
  • 92.5 (n)
  • 96.47 (a)
GARS 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gars 36
  • 88.3 (n)
  • 94.01 (a)
Gars 16
Gars 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GARS 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GARS 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gars 36
  • 88.41 (n)
  • 94.42 (a)
chicken
(Gallus gallus)
Aves GARS 36
  • 81.9 (n)
  • 90.22 (a)
GARS 37
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GARS 37
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gars 36
  • 75.57 (n)
  • 87.36 (a)
zebrafish
(Danio rerio)
Actinopterygii gars 36
  • 74.67 (n)
  • 85.51 (a)
gars 37
  • 79 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008604 36
  • 59.39 (n)
  • 63.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta Aats-gly 36
  • 58.39 (n)
  • 60.09 (a)
Aats-gly 37
  • 54 (a)
OneToOne
CG6778 38
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea gars-1 36
  • 57.82 (n)
  • 57.68 (a)
gars-1 37
  • 53 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL373W 36
  • 55.5 (n)
  • 53.1 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GRS1 36
  • 54.96 (n)
  • 50.08 (a)
GRS1 37
  • 46 (a)
OneToMany
GRS2 37
  • 47 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B08932g 36
  • 55.61 (n)
  • 51.52 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G29880 36
  • 53.61 (n)
  • 50.96 (a)
rice
(Oryza sativa)
Liliopsida Os08g0538000 36
  • 55.32 (n)
  • 52.17 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6079 36
bread mold
(Neurospora crassa)
Ascomycetes NCU00405 36
  • 53.55 (n)
  • 52.79 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes grs1 36
  • 53.91 (n)
  • 50.74 (a)
Species with no ortholog for GARS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GARS Gene

ENSEMBL:
Gene Tree for GARS (if available)
TreeFam:
Gene Tree for GARS (if available)

Paralogs for GARS Gene

Pseudogenes.org Pseudogenes for GARS Gene

genes like me logo Genes that share paralogs with GARS: view

No data available for Paralogs for GARS Gene

Variants for GARS Gene

Sequence variations from dbSNP and Humsavar for GARS Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs4593 Benign 30,633,785(+) ATCAC(A/G)TGGGC reference, synonymous-codon
rs14270 Benign 30,631,471(+) GTAGT(A/C/T)GCTCC synonymous-codon, reference
rs722423 -- 30,599,156(-) TTTCC(A/C)TGGAA intron-variant
rs728539 -- 30,608,435(-) AGACA(C/T)GGGTA intron-variant
rs758000 -- 30,597,223(+) AACCA(A/G)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GARS Gene

Variant ID Type Subtype PubMed ID
nsv436557 CNV Deletion 17901297
nsv527038 CNV Gain 19592680

Relevant External Links for GARS Gene

HapMap Linkage Disequilibrium report
GARS
Human Gene Mutation Database (HGMD)
GARS
Locus Specific Mutation Databases (LSDB)
GARS

Disorders for GARS Gene

(2) OMIM Diseases for GARS Gene (600287)

UniProtKB/Swiss-Prot

SYG_HUMAN
  • Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:12690580}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(8) Novoseek inferred disease relationships for GARS Gene

Disease -log(P) Hits PubMed IDs
dhmn-v 93.5 9
hyperekplexia 88.8 4
spinal muscular atrophy distal 86.8 1
charcot-marie-tooth disease 76.1 7
myositis 35.8 1

Relevant External Links for GARS

GeneTests
GARS
GeneReviews
GARS
Genetic Association Database (GAD)
GARS
Human Genome Epidemiology (HuGE) Navigator
GARS
genes like me logo Genes that share disorders with GARS: view

Publications for GARS Gene

  1. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. (PMID: 17035524) Antonellis A. … Green E.D. (J. Neurosci. 2006) 3 4 23 25
  2. Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy. (PMID: 17544401) Cader M.Z. … Stammers D.K. (FEBS Lett. 2007) 3 4 23 25
  3. Primary structure and functional expression of human glycyl-tRNA synthetase, an autoantigen in myositis. (PMID: 7961834) Ge Q. … Targoff I.N. (J. Biol. Chem. 1994) 3 4 23
  4. Human glycyl-tRNA synthetase. Wide divergence of primary structure from bacterial counterpart and species-specific aminoacylation. (PMID: 7962006) Shiba K. … Noda T. (J. Biol. Chem. 1994) 3 4 23
  5. Cloning, sequencing and bacterial expression of human glycine tRNA synthetase. (PMID: 7753621) Williams J.H. … Power D.A. (Nucleic Acids Res. 1995) 3 4 23

Products for GARS Gene

  • Addgene plasmids for GARS

Sources for GARS Gene

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