Details for: GARS1

Gene ID: 2617

Symbol: GARS1

Ensembl ID: ENSG00000106105

Description: glycyl-tRNA synthetase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 2.5
    Marker Score: 2229
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 2.37
    Marker Score: 5004
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 2.04
    Marker Score: 1198
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.86
    Marker Score: 9155.5
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 1.75
    Marker Score: 23552
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 1.74
    Marker Score: 1164
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.71
    Marker Score: 493
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.69
    Marker Score: 2246
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.62
    Marker Score: 2016
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.58
    Marker Score: 1984
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.52
    Marker Score: 1030
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.48
    Marker Score: 12701
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.47
    Marker Score: 15151
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.45
    Marker Score: 828
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.42
    Marker Score: 829
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.41
    Marker Score: 5445
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.38
    Marker Score: 47081
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.38
    Marker Score: 1266
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.38
    Marker Score: 1978
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.37
    Marker Score: 435
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 1.35
    Marker Score: 373
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.35
    Marker Score: 1409
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.35
    Marker Score: 852
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.34
    Marker Score: 15615
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.33
    Marker Score: 81834
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.3
    Marker Score: 2089
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.3
    Marker Score: 12333
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.28
    Marker Score: 516
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.26
    Marker Score: 1949
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.26
    Marker Score: 1696
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.26
    Marker Score: 11860
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.24
    Marker Score: 3054
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.24
    Marker Score: 2514.5
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.23
    Marker Score: 2808
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.23
    Marker Score: 4753
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.21
    Marker Score: 3578
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.2
    Marker Score: 800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.2
    Marker Score: 7669
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.17
    Marker Score: 2074
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.16
    Marker Score: 869
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.15
    Marker Score: 9953
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 1.15
    Marker Score: 410
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.15
    Marker Score: 838
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.14
    Marker Score: 1146
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.14
    Marker Score: 1208
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.13
    Marker Score: 945
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.13
    Marker Score: 1174
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 1.13
    Marker Score: 361
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.12
    Marker Score: 253
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.12
    Marker Score: 596
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.11
    Marker Score: 6729
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.1
    Marker Score: 4460
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1.08
    Marker Score: 615
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.08
    Marker Score: 39905
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.08
    Marker Score: 4250
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.08
    Marker Score: 8408.5
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 1.06
    Marker Score: 1459
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.06
    Marker Score: 1121
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.06
    Marker Score: 1189
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 1.03
    Marker Score: 2020
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: 1.03
    Marker Score: 270
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.03
    Marker Score: 345
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.02
    Marker Score: 538
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.02
    Marker Score: 697
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.02
    Marker Score: 506
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.01
    Marker Score: 15172
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.01
    Marker Score: 20121
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 1
    Marker Score: 733
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1
    Marker Score: 7656
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1
    Marker Score: 1074
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71624
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47848
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.99
    Marker Score: 4105
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.99
    Marker Score: 2059
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.98
    Marker Score: 1028
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30372
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.98
    Marker Score: 37204
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.97
    Marker Score: 2642.5
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.97
    Marker Score: 674
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.97
    Marker Score: 339
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.96
    Marker Score: 4149
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.96
    Marker Score: 2345
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.95
    Marker Score: 50173
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.95
    Marker Score: 3872
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.94
    Marker Score: 233
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.94
    Marker Score: 1213
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2384
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.93
    Marker Score: 980
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.93
    Marker Score: 453.5
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.93
    Marker Score: 589
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.93
    Marker Score: 1364
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.93
    Marker Score: 437
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.92
    Marker Score: 228
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 475
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.92
    Marker Score: 1562
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.92
    Marker Score: 1109
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.91
    Marker Score: 373
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 432
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.91
    Marker Score: 1102.5
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.91
    Marker Score: 257

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Other Information

**Key characteristics:** * GARS1 is a protein of the Glyp1 family of glycyl-tRNA synthetases. * It is expressed in a wide variety of cell types, including extravillous trophoblast, pancreatic acinar cell, unswitched memory B cell, myoepithelial cell of mammary gland, malignant cell, skeletal muscle satellite cell, male germ cell, plasmablast, retinal ganglion cell, and primordial germ cell. * It is a highly conserved protein, with a predicted molecular weight of approximately 55 kDa. **Pathways and functions:** * GARS1 is involved in the following pathways and functions: * Atp binding * Bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity * Cytoplasm * Cytosolic tRNA aminoacylation * Diadenosine tetraphosphate biosynthetic process * Glycine-trna ligase activity * Identical protein binding * Metabolism of proteins * Mitochondrial glycyl-trna aminoacylation * Mitochondrial matrix * Mitochondrial trna aminoacylation * Mitochondrion * Protein binding * Protein dimerization activity * Transferase activity * Translation * Trna aminoacylation * Trna aminoacylation for protein translation **Clinical significance:** GARS1 is a potential therapeutic target for a variety of diseases. For example, mutations in GARS1 have been linked to a number of human cancers, including breast cancer, lung cancer, and colon cancer. Inhibition of GARS1 has been shown to inhibit tumor growth in vitro and in vivo.

Genular Protein ID: 3550039907

Symbol: GARS_HUMAN

Name: Glycine--tRNA ligase

UniProtKB Accession Codes:

Database IDs:

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. For the full schema, download it here.