GARS1 Gene (Protein Coding)

Glycyl-TRNA Synthetase 1

GC07P030580
GIFtS:
37
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. Two transcript variants encoding d... See more...

Aliases for GARS1 Gene

Aliases for GARS1 Gene

  • Glycyl-TRNA Synthetase 1 2 3 4 5
  • GlyRS 2 3 4
  • Diadenosine Tetraphosphate Synthetase 3 4
  • Charcot-Marie-Tooth Neuropathy 2D 2 3
  • Glycyl-TRNA Synthetase 2 4
  • Glycine--TRNA Ligase 3 4
  • Ap4A Synthetase 3 4
  • EC 6.1.1.14 4 50
  • DSMAV 2 3
  • SMAD1 2 3
  • GARS 3 4
  • Charcot-Marie-Tooth Neuropathy, Neuronal Type, D 3
  • Glycine TRNA Ligase 2
  • AP-4-A Synthetase 3
  • EC 2.7.7.- 4
  • CMT2D 3
  • HMN5A 3
  • SMAJI 3
  • GARS1 5
  • HMN5 3

External Ids for GARS1 Gene

Previous HGNC Symbols for GARS1 Gene

  • CMT2D
  • GARS

Previous GeneCards Identifiers for GARS1 Gene

  • GC07P030595

Summaries for GARS1 Gene

Entrez Gene Summary for GARS1 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for GARS1 Gene

GARS1 (Glycyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with GARS1 include Neuronopathy, Distal Hereditary Motor, Type Va and Charcot-Marie-Tooth Disease, Axonal, Type 2D. Among its related pathways are tRNA Aminoacylation and Gene Expression. An important paralog of this gene is POLG2.

UniProtKB/Swiss-Prot Summary for GARS1 Gene

  • 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:28675565, PubMed:24898252). 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).

Gene Wiki entry for GARS1 Gene

Additional gene information for GARS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GARS1 Gene

Genomics for GARS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GARS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GARS1

Genomic Locations for GARS1 Gene

Latest Assembly
chr7:30,580,533-30,634,033
(GRCh38/hg38)
Size:
53,501 bases
Orientation:
Plus strand

Previous Assembly
chr7:30,634,351-30,673,649
(GRCh37/hg19 by Entrez Gene)
Size:
39,299 bases
Orientation:
Plus strand

chr7:30,634,297-30,673,649
(GRCh37/hg19 by Ensembl)
Size:
39,353 bases
Orientation:
Plus strand

Genomic View for GARS1 Gene

Genes around GARS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GARS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GARS1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GARS1 Gene

Proteins for GARS1 Gene

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  • Protein details for GARS1 Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for GARS1 Gene

    Size:
    739 amino acids
    Molecular mass:
    83166 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAA57001.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAA86443.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • Human GlyRS uses direct ATP condensation to synthesize Ap4A, a unique amino acid-independent mechanism, in contrast to the classical amino acid-dependent mechanism for synthesis of Ap4A by a tRNA synthetase, that involves the generation of an enzyme-bound aminoacyl-AMP which is then attacked by ATP to form Ap4A.

    Three dimensional structures from OCA and Proteopedia for GARS1 Gene

neXtProt entry for GARS1 Gene

Selected DME Specific Peptides for GARS1 Gene

P41250:
  • VSHKVDDSSGSIGRRYARTDE
  • VIEPSFG
  • YLRPETAQG
  • REGDEQRT
  • GLYDFGP
  • RPETAQGIF
  • NEMAHYA
  • RNEISPR
  • KLRFRQH
  • NFKRLLEFNQG
  • KRRFFYDQ
  • FNLMFKT

Post-translational modifications for GARS1 Gene

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

Other Protein References for GARS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein products for research

  • Abcam proteins for GARS1

Domains & Families for GARS1 Gene

Gene Families for GARS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GARS1 Gene

InterPro:
Blocks:
  • WHEP-TRS domain
  • Glycyl-tRNA synthetase signature
  • Anticodon binding domain

Suggested Antigen Peptide Sequences for GARS1 Gene

GenScript: Design optimal peptide antigens:
  • Glycine--tRNA ligase (SYG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P41250

UniProtKB/Swiss-Prot:

GARS_HUMAN :
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with GARS1: view

Function for GARS1 Gene

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  6. Cell Lines for research

Molecular function for GARS1 Gene

UniProtKB/Swiss-Prot 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:28675565, PubMed:24898252). 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + glycine + tRNA(Gly) = AMP + diphosphate + glycyl-tRNA(Gly); Xref=Rhea:RHEA:16013, Rhea:RHEA-COMP:9664, Rhea:RHEA-COMP:9683, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57305, ChEBI:CHEBI:78442, ChEBI:CHEBI:78522, ChEBI:CHEBI:456215; EC=6.1.1.14; Evidence={ECO:0000269|PubMed:17544401, ECO:0000269|PubMed:24898252, ECO:0000269|PubMed:28675565};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 ATP + H(+) = diphosphate + P(1),P(4)-bis(5'-adenosyl) tetraphosphate; Xref=Rhea:RHEA:34935, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58141; Evidence={ECO:0000269|PubMed:19710017};.
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}; KM=0.74 uM for tRNA(Gly) {ECO:0000269|PubMed:28675565}; Note=kcat is 0.049 sec(-1) for aminoacylation of tRNA(Gly). {ECO:0000269|PubMed:28675565};
UniProtKB/Swiss-Prot EnzymeRegulation:
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.

Enzyme Numbers (IUBMB) for GARS1 Gene

Phenotypes From GWAS Catalog for GARS1 Gene

Gene Ontology (GO) - Molecular Function for GARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004081 bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity IDA 19710017
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004820 glycine-tRNA ligase activity IEA,IMP 28675565
GO:0005515 protein binding IPI 17545306
genes like me logo Genes that share ontologies with GARS1: view
genes like me logo Genes that share phenotypes with GARS1: view

Human Phenotype Ontology for GARS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for GARS1 Gene

miRTarBase miRNAs that target GARS1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GARS1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GARS1 Gene

Localization for GARS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GARS1 Gene

Cytoplasm. Mitochondrion. Cell projection, axon. Secreted. Secreted, extracellular exosome. 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 locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GARS1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
extracellular 4
nucleus 3
plasma membrane 2
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GARS1: view

Pathways & Interactions for GARS1 Gene

genes like me logo Genes that share pathways with GARS1: view

Pathways by source for GARS1 Gene

1 KEGG pathway for GARS1 Gene

Gene Ontology (GO) - Biological Process for GARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006426 glycyl-tRNA aminoacylation IEA,IBA 21873635
GO:0015966 diadenosine tetraphosphate biosynthetic process IDA 19710017
GO:0070150 mitochondrial glycyl-tRNA aminoacylation IBA 21873635
genes like me logo Genes that share ontologies with GARS1: view

No data available for SIGNOR curated interactions for GARS1 Gene

Drugs & Compounds for GARS1 Gene

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  1. Drug products for research

(20) Drugs for GARS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved, Vet_approved Nutra Target, substrate 203
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(8) Additional Compounds for GARS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
 14000-31-8
genes like me logo Genes that share compounds with GARS1: view

Transcripts for GARS1 Gene

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mRNA/cDNA for GARS1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
33 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GARS1

Alternative Splicing Database (ASD) splice patterns (SP) for GARS1 Gene

No ASD Table

Relevant External Links for GARS1 Gene

GeneLoc Exon Structure for
GARS1

Expression for GARS1 Gene

Products:

  1. Primer products for research

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GARS1

SOURCE GeneReport for Unigene cluster for GARS1 Gene:

Hs.404321

mRNA Expression by UniProt/SwissProt for GARS1 Gene:

P41250-GARS_HUMAN
Tissue specificity: Widely expressed, including in brain and spinal cord.

Evidence on tissue expression from TISSUES for GARS1 Gene

  • Nervous system(5)
  • Liver(4.7)
  • Eye(4.7)
  • Skin(4.6)
  • Muscle(4.6)
  • Blood(4.6)
  • Kidney(4.2)
  • Lung(4.1)
  • Intestine(3.8)
  • Heart(2.4)
  • Stomach(2.4)
  • Pancreas(2.2)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GARS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for GARS1 Gene

Orthologs for GARS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GARS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia GARS 29 30
  • 99.46 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GARS 29 30
  • 92.5 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GARS 29 30
  • 91.31 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Gars 29
  • 88.41 (n)
Mouse
(Mus musculus)
 Mammalia Gars 29 16 30
  • 88.3 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GARS 30
  • 84 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia GARS 30
  • 80 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves GARS 29 30
  • 81.9 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GARS 30
  • 90 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia gars 29
  • 75.57 (n)
Zebrafish
(Danio rerio)
 Actinopterygii gars 29 30
  • 74.67 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008604 29
  • 59.39 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Aats-gly 29 30
  • 58.39 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea gars-1 29 30
  • 57.82 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B08932g 29
  • 55.61 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ADL373W 29
  • 55.5 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GRS1 29 30
  • 54.96 (n)
 OneToMany
GRS2 30
  • 47 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT1G29880 29
  • 53.61 (n)
Rice
(Oryza sativa)
 Liliopsida Os08g0538000 29
  • 55.32 (n)
Wheat
(Triticum aestivum)
 Liliopsida Ta.6079 29
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes grs1 29
  • 53.91 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU00405 29
  • 53.55 (n)
Species where no ortholog for GARS1 was found in the sources mined by GeneCards:
  • 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 Vase (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 GARS1 Gene

ENSEMBL:
Gene Tree for GARS1 (if available)
TreeFam:
Gene Tree for GARS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GARS1: view image
Alliance of Genome Resources:
Additional Orthologs for GARS1

Paralogs for GARS1 Gene

Paralogs for GARS1 Gene

Pseudogenes.org Pseudogenes for GARS1 Gene

genes like me logo Genes that share paralogs with GARS1: view

Variants for GARS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GARS1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1003427 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 30,598,900(+) G/A
NM_002047.4(GARS1):c.324+3G>A 		INTRON
1004741 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 30,617,144(+) T/G
NM_002047.4(GARS1):c.1225T>G (p.Phe409Val) 		MISSENSE
1006031 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 30,617,234(+) C/T
NM_002047.4(GARS1):c.1315C>T (p.His439Tyr) 		MISSENSE
1008540 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 30,599,947(+) G/A
NM_002047.4(GARS1):c.325G>A (p.Glu109Lys) 		MISSENSE
1014113 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 30,622,423(+) G/A
NM_002047.4(GARS1):c.1574G>A (p.Cys525Tyr) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GARS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GARS1 Gene

Variant ID Type Subtype PubMed ID
dgv6316n100 CNV gain 25217958
esv2761316 CNV gain 21179565
nsv1024458 CNV loss 25217958
nsv1068321 OTHER inversion 25765185
nsv1148830 OTHER inversion 26484159
nsv436557 CNV deletion 17901297
nsv527038 CNV gain 19592680

Variation tolerance for GARS1 Gene

Residual Variation Intolerance Score: 35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.64; 45.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GARS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GARS1
Leiden Open Variation Database (LOVD)
GARS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GARS1 Gene

Disorders for GARS1 Gene

MalaCards: The human disease database

(62) MalaCards diseases for GARS1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GARS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GARS_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. {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}. Note=The disease is caused by variants affecting the gene represented in this entry. Contrary to the wild-type protein, CMT2D variants Gly-125 and Arg-294 strongly interact with NRP1. This interaction may compete out VEGFA binding and inhibits VEGFA-NRP1 signling which is essential for motor neuron survival, as suggested by experiments done in a mouse model. {ECO:0000269 PubMed:26503042}.
  • 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, 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. Contrary to the wild-type protein, HMN5A variant Pro-183 strongly interacts with NRP1. This interaction may compete out VEGFA binding and inhibits VEGFA-NRP1 signling which is essential for motor neuron survival, as suggested by experiments done in a mouse model. {ECO:0000269 PubMed:26503042}.

Additional Disease Information for GARS1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GARS1: view

No data available for Genatlas for GARS1 Gene

Publications for GARS1 Gene

  1. Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy. (PMID: 17544401) Cader MZ … Stammers DK (FEBS letters 2007) 3 4 22 25
  2. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. (PMID: 17035524) Antonellis A … Green ED (The Journal of neuroscience : the official journal of the Society for Neuroscience 2006) 3 4 22 25
  3. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. (PMID: 12690580) Antonellis A … Green ED (American journal of human genetics 2003) 3 4 22 72
  4. Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease. (PMID: 26244500) Liao YC … Lee YC (PloS one 2015) 3 4 72
  5. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. (PMID: 25168514) Griffin LB … Antonellis A (Human mutation 2014) 3 4 72

ExternalLinks

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