グリシンtRNAリガーゼ
- 関
- glycyl-tRNA synthetase
WordNet
- the simplest amino acid found in proteins and the principal amino acid in sugar cane
- genus of Asiatic erect or sprawling herbs: soya bean (同)genus Glycine
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/28 15:20:23」(JST)
[Wiki en表示]
| Glycyl-tRNA synthetase |
PDB rendering based on 2pme. |
| Available structures |
| PDB |
Ortholog search: PDBe, RCSB |
| List of PDB id codes |
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2PME, 2PMF, 2Q5H, 2Q5I, 2ZT5, 2ZT6, 2ZT7, 2ZT8, 2ZXF, 4KQE, 4KR2, 4KR3
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| Identifiers |
| Symbols |
GARS ; CMT2D; DSMAV; GlyRS; HMN5; SMAD1 |
| External IDs |
OMIM: 600287 MGI: 2449057 HomoloGene: 1547 GeneCards: GARS Gene |
| EC number |
6.1.1.14 |
| Gene ontology |
| Molecular function |
• glycine-tRNA ligase activity
• ATP binding
• protein dimerization activity
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| Cellular component |
• nucleus
• nucleolus
• cytoplasm
• mitochondrial matrix
• cytosol
• secretory granule
• extracellular vesicular exosome
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| Biological process |
• tRNA aminoacylation for protein translation
• glycyl-tRNA aminoacylation
• cell death
• gene expression
• diadenosine tetraphosphate biosynthetic process
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| Sources: Amigo / QuickGO |
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| RNA expression pattern |
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| More reference expression data |
| Orthologs |
| Species |
Human |
Mouse |
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| Entrez |
2617 |
353172 |
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| Ensembl |
ENSG00000106105 |
ENSMUSG00000029777 |
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| UniProt |
P41250 |
Q9CZD3 |
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| RefSeq (mRNA) |
NM_002047 |
NM_180678 |
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| RefSeq (protein) |
NP_002038 |
NP_851009 |
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| Location (UCSC) |
Chr 7:
30.63 – 30.67 Mb |
Chr 6:
55.04 – 55.08 Mb |
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| PubMed search |
[1] |
[2] |
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Glycine—tRNA ligase also known as glycyl-tRNA synthetase is an enzyme that in humans is encoded by the GARS gene.[1][2][3]
Contents
- 1 Function
- 2 Reaction
- 3 Interactions
- 4 Clinical relevance
- 5 See also
- 6 References
- 7 Further reading
- 8 External links
Function
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.[3]
Reaction
| glycine-tRNA ligase |
| Identifiers |
| EC number |
6.1.1.14 |
| CAS number |
9037-62-1 |
| Databases |
| IntEnz |
IntEnz view |
| BRENDA |
BRENDA entry |
| ExPASy |
NiceZyme view |
| KEGG |
KEGG entry |
| MetaCyc |
metabolic pathway |
| PRIAM |
profile |
| PDB structures |
RCSB PDB PDBe PDBsum |
| Gene Ontology |
AmiGO / EGO |
| Search |
| PMC |
articles |
| PubMed |
articles |
| NCBI |
proteins |
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In enzymology, a glycine-tRNA ligase (EC 6.1.1.14) is an enzyme that catalyzes the chemical reaction
- ATP + glycine + tRNAGly AMP + diphosphate + glycyl-tRNAGly
The 3 substrates of this enzyme are ATP, glycine, and tRNA(Gly), whereas its 3 products are AMP, diphosphate, and glycyl-tRNA(Gly).
This enzyme belongs to the family of ligases, to be specific those forming carbon-oxygen bonds in aminoacyl-tRNA and related compounds. The systematic name of this enzyme class is glycine:tRNAGly ligase (AMP-forming). Other names in common use include glycyl-tRNA synthetase, glycyl-transfer ribonucleate synthetase, glycyl-transfer RNA synthetase, glycyl-transfer ribonucleic acid synthetase, and glycyl translase. This enzyme participates in glycine, serine and threonine metabolism and aminoacyl-trna biosynthesis.
Interactions
Glycyl-tRNA synthetase has been shown to interact with EEF1D.[4]
Clinical relevance
Glycyl-tRNA synthetase has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis.[3]
The peripheral neuropathy Charcot-Marie-Tooth disease type 2D (CMT2D) has been liked to dominant mutations in GARS.[5] CMT2D usually manifests during the teenage years, and results in muscle weakness predominantly in the hands and feet.[6] Two mouse models of CMT2D have been used to better understand the disease, identifying that the disorder is caused by a toxic gain of function of the mutant glycine-tRNA ligase protein.[7] The CMT2D mice display peripheral nerve axon degeneration [8][9] and defective development of the neuromuscular junction.[10]
See also
References
- ^ Nichols RC, Pai SI, Ge Q, Targoff IN, Plotz PH, Liu P (Apr 1996). "Localization of two human autoantigen genes by PCR screening and in situ hybridization--glycyl-tRNA synthetase locates to 7p15 and alanyl-tRNA synthetase locates to 16q22". Genomics 30 (1): 131–2. doi:10.1006/geno.1995.0028. PMID 8595897.
- ^ Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R (Jan 1997). "Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)". Hum Mol Genet 5 (9): 1373–5. doi:10.1093/hmg/5.9.1373. PMID 8872480.
- ^ a b c "Entrez Gene: GARS glycyl-tRNA synthetase".
- ^ Sang Lee J, Gyu Park S, Park H, Seol W, Lee S, Kim S (February 2002). "Interaction network of human aminoacyl-tRNA synthetases and subunits of elongation factor 1 complex". Biochem. Biophys. Res. Commun. 291 (1): 158–64. doi:10.1006/bbrc.2002.6398. PMID 11829477.
- ^ Motley WW, Talbot K, Fischbeck KH (Feb 2010). "GARS axonopathy: not every neuron's cup of tRNA". Trends Neurosci 33 (2): 59–66. doi:10.1016/j.tins.2009.11.001. PMC 2822721. PMID 20152552.
- ^ Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG (Oct 2005). "Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.". Brain 128 (10): 2304–2314. doi:10.1093/brain/awh590. PMID 16014653.
- ^ Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW (Dec 2011). "Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.". PLoS Genet 7 (12): e1002399. doi:10.1371/journal.pgen.1002399. PMC 3228828. PMID 22144914.
- ^ Seburn KL, Nangle LA, Cox GA, Schimmel P, Burgess RW (Sep 2006). "An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.". Neuron 51 (6): 75–726. doi:10.1016/j.neuron.2006.08.027. PMID 16982418.
- ^ Achilli F, Bros-Facer V, Williams HP, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, Brandner S, Martin JE, Koltzenburg M, Greensmith L, Nolan PM, Fisher EM (Jul–Aug 2009). "An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.". Dis Model Mech 2 (7-8): 359–373. doi:10.1242/dmm.002527. PMC 2707104. PMID 19470612.
- ^ Sleigh JN, Grice SJ, Burgess RW, Talbot K, Cader MZ (Jan 2014). "Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice.". Hum Mol Genet Epub (10): 2639–50. doi:10.1093/hmg/ddt659. PMID 24368416.
Further reading
- FRASER MJ (1963). "Glycyl-RNA synthetase of rat liver: partial purification and effects of some metal ions on its activity". Can. J. Biochem. Physiol. 41: 1123–33. doi:10.1139/o63-128. PMID 13959340.
- Niyomporn B, Dahl JL, Strominger JL (1968). "Biosynthesis of the peptidoglycan of bacterial cell walls. IX Purification and properties of glycyl transfer ribonucleic acid synthetase from Staphylococcus aureus". J. Biol. Chem. 243 (4): 773–8. PMID 4295604.
- Hipps D, Shiba K, Henderson B, Schimmel P (1995). "Operational RNA code for amino acids: species-specific aminoacylation of minihelices switched by a single nucleotide.". Proc. Natl. Acad. Sci. U.S.A. 92 (12): 5550–2. doi:10.1073/pnas.92.12.5550. PMC 41733. PMID 7539919.
- Williams J, Osvath S, Khong TF et al. (1995). "Cloning, sequencing and bacterial expression of human glycine tRNA synthetase.". Nucleic Acids Res. 23 (8): 1307–10. doi:10.1093/nar/23.8.1307. PMC 306854. PMID 7753621.
- Ge Q, Trieu EP, Targoff IN (1994). "Primary structure and functional expression of human Glycyl-tRNA synthetase, an autoantigen in myositis.". J. Biol. Chem. 269 (46): 28790–7. PMID 7961834.
- Shiba K, Schimmel P, Motegi H, Noda T (1994). "Human glycyl-tRNA synthetase. Wide divergence of primary structure from bacterial counterpart and species-specific aminoacylation.". J. Biol. Chem. 269 (47): 30049–55. PMID 7962006.
- Rho SB, Lee KH, Kim JW et al. (1996). "Interaction between human tRNA synthetases involves repeated sequence elements.". Proc. Natl. Acad. Sci. U.S.A. 93 (19): 10128–33. doi:10.1073/pnas.93.19.10128. PMC 38348. PMID 8816763.
- Mudge SJ, Williams JH, Eyre HJ et al. (1998). "Complex organisation of the 5'-end of the human glycine tRNA synthetase gene.". Gene 209 (1-2): 45–50. doi:10.1016/S0378-1119(98)00007-9. PMID 9524218.
- Kneussel M, Hermann A, Kirsch J, Betz H (1999). "Hydrophobic interactions mediate binding of the glycine receptor beta-subunit to gephyrin.". J. Neurochem. 72 (3): 1323–6. doi:10.1046/j.1471-4159.1999.0721323.x. PMID 10037506.
- Sang Lee J, Gyu Park S, Park H et al. (2002). "Interaction network of human aminoacyl-tRNA synthetases and subunits of elongation factor 1 complex.". Biochem. Biophys. Res. Commun. 291 (1): 158–64. doi:10.1006/bbrc.2002.6398. PMID 11829477.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Scherer SW, Cheung J, MacDonald JR et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
- Antonellis A, Ellsworth RE, Sambuughin N et al. (2003). "Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.". Am. J. Hum. Genet. 72 (5): 1293–9. doi:10.1086/375039. PMC 1180282. PMID 12690580.
- Hillier LW, Fulton RS, Fulton LA et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Del Bo R, Locatelli F, Corti S et al. (2006). "Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.". Neurology 66 (5): 752–4. doi:10.1212/01.wnl.0000201275.18875.ac. PMID 16534118.
- James PA, Cader MZ, Muntoni F et al. (2006). "Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.". Neurology 67 (9): 1710–2. doi:10.1212/01.wnl.0000242619.52335.bc. PMID 17101916.
- Xie W, Schimmel P, Yang XL (2006). "Crystallization and preliminary X-ray analysis of a native human tRNA synthetase whose allelic variants are associated with Charcot-Marie-Tooth disease.". Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 62 (Pt 12): 1243–6. doi:10.1107/S1744309106046434. PMC 2225372. PMID 17142907.
- Cader MZ, Ren J, James PA et al. (2007). "Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy.". FEBS Lett. 581 (16): 2959–64. doi:10.1016/j.febslet.2007.05.046. PMID 17544401.
- Xie W, Nangle LA, Zhang W et al. (2007). "Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase.". Proc. Natl. Acad. Sci. U.S.A. 104 (24): 9976–81. doi:10.1073/pnas.0703908104. PMC 1891255. PMID 17545306.
External links
- GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2
- GeneReviews/NCBI/NIH/UW entry on GARS-Associated Axonal Neuropathy, Charcot-Marie-Tooth Neuropathy Type 2D, Distal Spinal Muscular Atrophy V
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PDB gallery
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2pme: The Apo crystal Structure of the glycyl-tRNA synthetase
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2pmf: The crystal structure of a human glycyl-tRNA synthetase mutant
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Enzymes: CO CS and CN ligases (EC 6.1-6.3)
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| 6.1: Carbon-Oxygen |
- Aminoacyl tRNA synthetase
- Tyrosine
- Tryptophan
- Threonine
- Leucine
- Isoleucine
- Lysine
- Alanine
- Valine
- Methionine
- Serine
- Aspartate
- D-alanine-poly(phosphoribitol) ligase
- Glycine
- Proline
- Cysteine
- Glutamate
- Glutamine
- Arginine
- Phenylalanine
- Histidine
- Asparagine
- Aspartate
- Glutamate
- Lysine
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| 6.2: Carbon-Sulfur |
- Succinyl coenzyme A synthetase - Acetyl Co-A synthetase - Long fatty acyl CoA synthetase
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| 6.3: Carbon-Nitrogen |
- Glutamine synthetase
- Ubiquitin ligase
- Cullin
- Von Hippel-Lindau tumor suppressor
- UBE3A
- Mdm2
- Anaphase-promoting complex
- UBR1
- Glutathione synthetase
- CTP synthase
- Adenylosuccinate synthase
- Argininosuccinate synthetase
- Holocarboxylase synthetase
- GMP synthase
- Asparagine synthetase
- Carbamoyl phosphate synthetase
- Gamma-glutamylcysteine synthetase
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- Biochemistry overview
- Enzymes overview
- By EC number: 1.1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 10
- 11
- 13
- 14
- 15-18
- 2.1
- 3.1
- 4.1
- 5.1
- 6.1-3
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Ligases: carbon-carbon ligases (EC 6.4)
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| Biotin dependent carboxylase |
- Pyruvate carboxylase
- Acetyl-CoA carboxylase
- Propionyl-CoA carboxylase
- Methylcrotonyl-CoA carboxylase
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| Other |
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- Biochemistry overview
- Enzymes overview
- By EC number: 1.1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 10
- 11
- 13
- 14
- 15-18
- 2.1
- 3.1
- 4.1
- 5.1
- 6.1-3
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Enzymes: Phosphoric ester and nitrogen-metal ligases (EC 6.5-6.6)
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| 6.5: Phosphoric Ester |
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| 6.6: Nitrogen-Metal |
- Magnesium chelatase
- Cobaltochelatase
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- Biochemistry overview
- Enzymes overview
- By EC number: 1.1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 10
- 11
- 13
- 14
- 15-18
- 2.1
- 3.1
- 4.1
- 5.1
- 6.1-3
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UpToDate Contents
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English Journal
- One-carbon metabolic pathway rewiring in Escherichia coli reveals an evolutionary advantage of 10-formyltetrahydrofolate synthetase (Fhs) in survival under hypoxia.
- Sah S1, Aluri S1, Rex K1, Varshney U2.
- Journal of bacteriology.J Bacteriol.2015 Feb 15;197(4):717-26. doi: 10.1128/JB.02365-14. Epub 2014 Dec 1.
- In cells, N(10)-formyltetrahydrofolate (N(10)-fTHF) is required for formylation of eubacterial/organellar initiator tRNA and purine nucleotide biosynthesis. Biosynthesis of N(10)-fTHF is catalyzed by 5,10-methylene-tetrahydrofolate dehydrogenase/cyclohydrolase (FolD) and/or 10-formyltetrahydrofolate
- PMID 25448816
- A single amino acid substitution affects the substrate specificity of the seryl-tRNA synthetase homologue.
- Maršavelski A1, Lesjak S, Močibob M, Weygand-Đurašević I, Tomić S.
- Molecular bioSystems.Mol Biosyst.2014 Dec;10(12):3207-16. doi: 10.1039/c4mb00416g. Epub 2014 Oct 2.
- Recently described and characterized Bradyrhizobium japonicum glycine:[carrier protein] ligase 1 (Bj Gly:CP ligase 1), a homologue of methanogenic type seryl-tRNA synthetase (SerRS) is an intriguing enzyme whose physiological role is not yet known. While aminoacyl-tRNA synthetases supply ribosome wi
- PMID 25272963
- Pulmonary pathologic manifestations of anti-glycyl-tRNA synthetase (anti-EJ)-related inflammatory myopathy.
- Schneider F1, Yousem SA1, Bi D1, Gibson KF2, Oddis CV3, Aggarwal R3.
- Journal of clinical pathology.J Clin Pathol.2014 Aug;67(8):678-83. doi: 10.1136/jclinpath-2014-202367. Epub 2014 Jun 2.
- AIMS: Antisynthetase syndromes are a subset of the idiopathic inflammatory myopathies characterised by the presence of autoantibodies to aminoacyl transfer-RNA synthetases (ARS) and monotypic clinical features including Raynaud phenomenon, fever, non-erosive inflammatory arthritis and hyperkeratotic
- PMID 24891607
Related Links
- glycine-tRNA ligase definition from the mondofacto online medical dictionary ... help contact sitemap glycine-tRNA ligase definition home dictionary word tools courses study skills forum about us Search dictionary help glycine-tRNA ...
- Glycine--tRNA ligase UniRule annotation (EC:6.1.1.14 UniRule annotation ) Alternative name(s): Glycyl-tRNA synthetase UniRule annotation Short name: GlyRS UniRule annotation Gene names i Name:glyQS UniRule annotation ...
Related Pictures
★リンクテーブル★
[★]
グリシルtRNA合成酵素、グリシルtRNAシンテターゼ
- 関
- glycine-tRNA ligase
[★]
- 英
- glycine-tRNA ligase
- 関
- グリシルtRNA合成酵素
[★]
トランスファーRNA, transfer RNA, 転位RNA
[★]
リガーゼ、連結酵素
- 関
- synthetase
[★]
トランスファーRNA transfer RNAs
[★]
tRNAリガーゼ
- 関
- RNA ligase