Details for: GARS1

Gene ID: 2617

Symbol: GARS1

Ensembl ID: ENSG00000106105

Description: glycyl-tRNA synthetase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 193.8343
    Cell Significance Index: -30.1500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 135.7023
    Cell Significance Index: -34.4200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 95.2548
    Cell Significance Index: -39.2400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 87.0748
    Cell Significance Index: -41.1100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 86.8662
    Cell Significance Index: -35.2900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 78.9097
    Cell Significance Index: -40.5900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 61.3393
    Cell Significance Index: -41.1600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 37.2613
    Cell Significance Index: -35.5800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 31.0149
    Cell Significance Index: -38.2400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.0835
    Cell Significance Index: -39.7900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.1069
    Cell Significance Index: -24.9000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.4373
    Cell Significance Index: -11.9000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.3971
    Cell Significance Index: 165.7700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2653
    Cell Significance Index: 253.8100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.2631
    Cell Significance Index: 75.8300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0990
    Cell Significance Index: 178.7500
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.9640
    Cell Significance Index: 30.4900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.7923
    Cell Significance Index: 11.9400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.7835
    Cell Significance Index: 92.4000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7813
    Cell Significance Index: 10.6600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6655
    Cell Significance Index: 238.7000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.5686
    Cell Significance Index: 16.3000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.5550
    Cell Significance Index: 16.3000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5092
    Cell Significance Index: 278.0700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5008
    Cell Significance Index: 23.3500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.4988
    Cell Significance Index: 26.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4953
    Cell Significance Index: 60.9100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.4883
    Cell Significance Index: 10.2200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4701
    Cell Significance Index: 84.7500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4478
    Cell Significance Index: 88.8600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4395
    Cell Significance Index: 60.3600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4200
    Cell Significance Index: 12.1000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3746
    Cell Significance Index: 48.4000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3693
    Cell Significance Index: 163.2600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3508
    Cell Significance Index: 242.6600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3456
    Cell Significance Index: 34.1900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.3438
    Cell Significance Index: 9.1800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3364
    Cell Significance Index: 9.4000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2621
    Cell Significance Index: 12.3200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2332
    Cell Significance Index: 17.3800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2032
    Cell Significance Index: 13.1100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.1851
    Cell Significance Index: 9.3500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1786
    Cell Significance Index: 4.8600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1702
    Cell Significance Index: 1.8500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1425
    Cell Significance Index: 10.0800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0991
    Cell Significance Index: 16.9200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0919
    Cell Significance Index: 17.4900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0800
    Cell Significance Index: 147.6100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0796
    Cell Significance Index: 71.8600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0779
    Cell Significance Index: 9.9800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0735
    Cell Significance Index: 3.8200
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.0660
    Cell Significance Index: 0.4100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0561
    Cell Significance Index: 76.2400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0479
    Cell Significance Index: 90.1300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0454
    Cell Significance Index: 69.8500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0344
    Cell Significance Index: 26.0500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0084
    Cell Significance Index: 5.3300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0010
    Cell Significance Index: 0.0200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0181
    Cell Significance Index: -8.2000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0262
    Cell Significance Index: -1.6500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0276
    Cell Significance Index: -20.2100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0392
    Cell Significance Index: -2.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0417
    Cell Significance Index: -30.8600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0457
    Cell Significance Index: -4.6700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0588
    Cell Significance Index: -8.5500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0661
    Cell Significance Index: -37.3100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0698
    Cell Significance Index: -43.5900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0768
    Cell Significance Index: -2.4600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0861
    Cell Significance Index: -6.6100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0871
    Cell Significance Index: -4.8900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1077
    Cell Significance Index: -7.2500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1185
    Cell Significance Index: -5.3700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1209
    Cell Significance Index: -13.8600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1225
    Cell Significance Index: -35.2600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1518
    Cell Significance Index: -2.5400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1961
    Cell Significance Index: -41.3000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2145
    Cell Significance Index: -5.4800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2299
    Cell Significance Index: -10.1700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2396
    Cell Significance Index: -4.9700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2612
    Cell Significance Index: -2.4100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2778
    Cell Significance Index: -10.5200
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.3360
    Cell Significance Index: -2.0300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3367
    Cell Significance Index: -35.0600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3555
    Cell Significance Index: -10.1500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3689
    Cell Significance Index: -12.8200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3930
    Cell Significance Index: -7.6700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.4193
    Cell Significance Index: -7.1900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4338
    Cell Significance Index: -34.3600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.4367
    Cell Significance Index: -17.8900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.4718
    Cell Significance Index: -8.7200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4914
    Cell Significance Index: -30.1300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5461
    Cell Significance Index: -11.6300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5563
    Cell Significance Index: -14.3000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.5637
    Cell Significance Index: -5.8400
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.6072
    Cell Significance Index: -4.5800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.6262
    Cell Significance Index: -16.7500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.6545
    Cell Significance Index: -14.1800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.6813
    Cell Significance Index: -7.7400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6967
    Cell Significance Index: -20.5200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7279
    Cell Significance Index: -23.8300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** GARS1 is a mitochondrial enzyme that catalyzes the aminoacylation of glycine-tRNA, which is a critical process in protein synthesis. The enzyme has a high degree of specificity, ensuring that only glycine is linked to its corresponding tRNA molecule. This specificity is crucial for maintaining the accuracy of protein synthesis, as incorrect aminoacylation can lead to the production of aberrant or non-functional proteins. GARS1 is also involved in the regulation of protein synthesis, particularly in the context of cellular stress and adaptation. Under conditions of stress, the expression of GARS1 can be upregulated, allowing cells to rapidly adapt to changing environmental conditions. **Pathways and Functions** GARS1 is involved in various cellular pathways, including: 1. **Aminoacylation of tRNA**: GARS1 catalyzes the aminoacylation of glycine-tRNA, a critical step in protein synthesis. 2. **Mitochondrial metabolism**: GARS1 plays a role in the regulation of mitochondrial metabolism, particularly in the context of energy production and cellular stress. 3. **Translation**: GARS1 is involved in the regulation of protein synthesis, particularly in the context of cellular stress and adaptation. 4. **Cellular stress response**: GARS1 can be upregulated in response to cellular stress, allowing cells to rapidly adapt to changing environmental conditions. **Clinical Significance** Dysregulation of GARS1 has been implicated in various diseases, including: 1. **Cancer**: Overexpression of GARS1 has been observed in various types of cancer, including pancreatic and breast cancer. 2. **Neurodegenerative diseases**: GARS1 has been implicated in the pathogenesis of neurodegenerative diseases, such as Alzheimer's and Parkinson's disease. 3. **Mitochondrial disorders**: GARS1 mutations have been associated with mitochondrial disorders, including Kearns-Sayre syndrome and MELAS syndrome. In conclusion, GARS1 is a critical enzyme involved in the process of aminoacylation of glycine-tRNA, a vital step in protein synthesis. Its dysregulation has been implicated in various diseases, highlighting the importance of this enzyme in maintaining cellular homeostasis. Further research is needed to fully understand the role of GARS1 in disease and to develop therapeutic strategies to target this enzyme in the treatment of various diseases.

Genular Protein ID: 3550039907

Symbol: GARS_HUMAN

Name: Glycine--tRNA ligase

UniProtKB Accession Codes:

P41250 A0A090N8G0 B3KQA2 B4DIA0 Q969Y1

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CTD 1 ChEBI 17 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 11 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 16 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 MoonProt 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 14 PDBsum 14 PIR 1 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 Rhea 6 SABIO-RK 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7962006

Title: Human glycyl-tRNA synthetase. Wide divergence of primary structure from bacterial counterpart and species-specific aminoacylation.

PubMed ID: 7962006

DOI: 10.1016/s0021-9258(18)43986-5

PubMed ID: 7753621

Title: Cloning, sequencing and bacterial expression of human glycine tRNA synthetase.

PubMed ID: 7753621

DOI: 10.1093/nar/23.8.1307

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7961834

Title: Primary structure and functional expression of human glycyl-tRNA synthetase, an autoantigen in myositis.

PubMed ID: 7961834

DOI: 10.1016/s0021-9258(19)61975-7

PubMed ID: 12690580

Title: Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

PubMed ID: 12690580

DOI: 10.1086/375039

PubMed ID: 14654843

Title: Proteomic characterization of the human centrosome by protein correlation profiling.

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 17035524

Title: Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

PubMed ID: 17035524

DOI: 10.1523/jneurosci.1671-06.2006

PubMed ID: 17529987

Title: Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization.

PubMed ID: 17529987

DOI: 10.1038/nn1910

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25168514

Title: Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

PubMed ID: 25168514

DOI: 10.1002/humu.22681

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26327585

Title: Elaborate uORF/IRES features control expression and localization of human glycyl-tRNA synthetase.

PubMed ID: 26327585

DOI: 10.1080/15476286.2015.1086866

PubMed ID: 32181591

Title: GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.

PubMed ID: 32181591

DOI: 10.1002/ajmg.a.61544

PubMed ID: 17544401

Title: Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy.

PubMed ID: 17544401

DOI: 10.1016/j.febslet.2007.05.046

PubMed ID: 17545306

Title: Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase.

PubMed ID: 17545306

DOI: 10.1073/pnas.0703908104

PubMed ID: 19710017

Title: Crystal structures and biochemical analyses suggest a unique mechanism and role for human glycyl-tRNA synthetase in Ap4A homeostasis.

PubMed ID: 19710017

DOI: 10.1074/jbc.m109.030692

PubMed ID: 24898252

Title: Cocrystal structures of glycyl-tRNA synthetase in complex with tRNA suggest multiple conformational states in glycylation.

PubMed ID: 24898252

DOI: 10.1074/jbc.m114.557249

PubMed ID: 26797133

Title: Large Conformational Changes of Insertion 3 in Human Glycyl-tRNA Synthetase (hGlyRS) during Catalysis.

PubMed ID: 26797133

DOI: 10.1074/jbc.m115.679126

PubMed ID: 27261259

Title: Crystal Structure of the Wild-Type Human GlyRS Bound with tRNA(Gly) in a Productive Conformation.

PubMed ID: 27261259

DOI: 10.1016/j.jmb.2016.05.018

PubMed ID: 17101916

Title: Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.

PubMed ID: 17101916

DOI: 10.1212/01.wnl.0000242619.52335.bc

PubMed ID: 17663003

Title: Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

PubMed ID: 17663003

DOI: 10.1016/j.jns.2007.06.047

PubMed ID: 20169446

Title: Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.

PubMed ID: 20169446

DOI: 10.1007/s00415-010-5491-x

PubMed ID: 23279345

Title: Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.

PubMed ID: 23279345

DOI: 10.1111/j.1529-8027.2012.00442.x

PubMed ID: 24627108

Title: Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

PubMed ID: 24627108

DOI: 10.1007/s00415-014-7289-8

PubMed ID: 24604904

Title: Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PubMed ID: 24604904

DOI: 10.1136/jnnp-2013-306740

PubMed ID: 26244500

Title: Two novel de novo gars mutations cause early-onset axonal Charcot-Marie-tooth disease.

PubMed ID: 26244500

DOI: 10.1371/journal.pone.0133423

PubMed ID: 26503042

Title: CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.

PubMed ID: 26503042

DOI: 10.1038/nature15510

PubMed ID: 26789244

Title: Corrigendum: CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.

PubMed ID: 26789244

DOI: 10.1038/nature16499

PubMed ID: 28675565

Title: Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.

PubMed ID: 28675565

DOI: 10.1002/humu.23287

PubMed ID: 28594869

Title: Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

PubMed ID: 28594869

DOI: 10.1371/journal.pone.0178125

PubMed ID: 31173493

Title: A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease.

PubMed ID: 31173493

DOI: 10.1002/mgg3.782

Sequence Information:

  • Length: 739
  • Mass: 83166
  • Checksum: E4C001CEBF985C59
  • Sequence:
    • MPSPRPVLLR GARAALLLLL PPRLLARPSL LLRRSLSAAS CPPISLPAAA SRSSMDGAGA 
EEVLAPLRLA VRQQGDLVRK LKEDKAPQVD VDKAVAELKA RKRVLEAKEL ALQPKDDIVD 
RAKMEDTLKR RFFYDQAFAI YGGVSGLYDF GPVGCALKNN IIQTWRQHFI QEEQILEIDC 
TMLTPEPVLK TSGHVDKFAD FMVKDVKNGE CFRADHLLKA HLQKLMSDKK CSVEKKSEME 
SVLAQLDNYG QQELADLFVN YNVKSPITGN DLSPPVSFNL MFKTFIGPGG NMPGYLRPET 
AQGIFLNFKR LLEFNQGKLP FAAAQIGNSF RNEISPRSGL IRVREFTMAE IEHFVDPSEK 
DHPKFQNVAD LHLYLYSAKA QVSGQSARKM RLGDAVEQGV INNTVLGYFI GRIYLYLTKV 
GISPDKLRFR QHMENEMAHY ACDCWDAESK TSYGWIEIVG CADRSCYDLS CHARATKVPL 
VAEKPLKEPK TVNVVQFEPS KGAIGKAYKK DAKLVMEYLA ICDECYITEM EMLLNEKGEF 
TIETEGKTFQ LTKDMINVKR FQKTLYVEEV VPNVIEPSFG LGRIMYTVFE HTFHVREGDE 
QRTFFSFPAV VAPFKCSVLP LSQNQEFMPF VKELSEALTR HGVSHKVDDS SGSIGRRYAR 
TDEIGVAFGV TIDFDTVNKT PHTATLRDRD SMRQIRAEIS ELPSIVQDLA NGNITWADVE 
ARYPLFEGQE TGKKETIEE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.