Details for: GARS1
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
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
PubMed ID: 7753621
Title: Cloning, sequencing and bacterial expression of human glycine tRNA synthetase.
PubMed ID: 7753621
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
PubMed ID: 12690205
Title: Human chromosome 7: DNA sequence and biology.
PubMed ID: 12690205
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
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
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
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
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
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 26327585
Title: Elaborate uORF/IRES features control expression and localization of human glycyl-tRNA synthetase.
PubMed ID: 26327585
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
PubMed ID: 17545306
Title: Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase.
PubMed ID: 17545306
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
PubMed ID: 24898252
Title: Cocrystal structures of glycyl-tRNA synthetase in complex with tRNA suggest multiple conformational states in glycylation.
PubMed ID: 24898252
PubMed ID: 26797133
Title: Large Conformational Changes of Insertion 3 in Human Glycyl-tRNA Synthetase (hGlyRS) during Catalysis.
PubMed ID: 26797133
PubMed ID: 27261259
Title: Crystal Structure of the Wild-Type Human GlyRS Bound with tRNA(Gly) in a Productive Conformation.
PubMed ID: 27261259
PubMed ID: 17101916
Title: Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
PubMed ID: 17101916
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
PubMed ID: 20169446
Title: Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.
PubMed ID: 20169446
PubMed ID: 23279345
Title: Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.
PubMed ID: 23279345
PubMed ID: 24627108
Title: Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
PubMed ID: 24627108
PubMed ID: 24604904
Title: Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
PubMed ID: 24604904
PubMed ID: 26244500
Title: Two novel de novo gars mutations cause early-onset axonal Charcot-Marie-tooth disease.
PubMed ID: 26244500
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
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.