- GARS
Glycyl-tRNA synthetase, also known as GARS, is a human
gene .cite web | title = Entrez Gene: GARS glycyl-tRNA synthetase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2617| accessdate = ]PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: GARS glycyl-tRNA synthetase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2617| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Hipps D, Shiba K, Henderson B, Schimmel P |title=Operational RNA code for amino acids: species-specific aminoacylation of minihelices switched by a single nucleotide. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=92 |issue= 12 |pages= 5550–2 |year= 1995 |pmid= 7539919 |doi=
*cite journal | author=Williams J, Osvath S, Khong TF, "et al." |title=Cloning, sequencing and bacterial expression of human glycine tRNA synthetase. |journal=Nucleic Acids Res. |volume=23 |issue= 8 |pages= 1307–10 |year= 1995 |pmid= 7753621 |doi=
*cite journal | author=Ge Q, Trieu EP, Targoff IN |title=Primary structure and functional expression of human Glycyl-tRNA synthetase, an autoantigen in myositis. |journal=J. Biol. Chem. |volume=269 |issue= 46 |pages= 28790–7 |year= 1994 |pmid= 7961834 |doi=
*cite journal | author=Shiba K, Schimmel P, Motegi H, Noda T |title=Human glycyl-tRNA synthetase. Wide divergence of primary structure from bacterial counterpart and species-specific aminoacylation. |journal=J. Biol. Chem. |volume=269 |issue= 47 |pages= 30049–55 |year= 1994 |pmid= 7962006 |doi=
*cite journal | author=Nichols RC, Pai SI, Ge Q, "et al." |title=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. |journal=Genomics |volume=30 |issue= 1 |pages= 131–2 |year= 1996 |pmid= 8595897 |doi= 10.1006/geno.1995.0028
*cite journal | author=Rho SB, Lee KH, Kim JW, "et al." |title=Interaction between human tRNA synthetases involves repeated sequence elements. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=93 |issue= 19 |pages= 10128–33 |year= 1996 |pmid= 8816763 |doi=
*cite journal | author=Ionasescu V, Searby C, Sheffield VC, "et al." |title=Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). |journal=Hum. Mol. Genet. |volume=5 |issue= 9 |pages= 1373–5 |year= 1997 |pmid= 8872480 |doi=
*cite journal | author=Mudge SJ, Williams JH, Eyre HJ, "et al." |title=Complex organisation of the 5'-end of the human glycine tRNA synthetase gene. |journal=Gene |volume=209 |issue= 1-2 |pages= 45–50 |year= 1998 |pmid= 9524218 |doi=
*cite journal | author=Kneussel M, Hermann A, Kirsch J, Betz H |title=Hydrophobic interactions mediate binding of the glycine receptor beta-subunit to gephyrin. |journal=J. Neurochem. |volume=72 |issue= 3 |pages= 1323–6 |year= 1999 |pmid= 10037506 |doi=
*cite journal | author=Sang Lee J, Gyu Park S, Park H, "et al." |title=Interaction network of human aminoacyl-tRNA synthetases and subunits of elongation factor 1 complex. |journal=Biochem. Biophys. Res. Commun. |volume=291 |issue= 1 |pages= 158–64 |year= 2002 |pmid= 11829477 |doi= 10.1006/bbrc.2002.6398
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Scherer SW, Cheung J, MacDonald JR, "et al." |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423
*cite journal | author=Antonellis A, Ellsworth RE, Sambuughin N, "et al." |title=Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. |journal=Am. J. Hum. Genet. |volume=72 |issue= 5 |pages= 1293–9 |year= 2003 |pmid= 12690580 |doi=
*cite journal | author=Hillier LW, Fulton RS, Fulton LA, "et al." |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Del Bo R, Locatelli F, Corti S, "et al." |title=Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. |journal=Neurology |volume=66 |issue= 5 |pages= 752–4 |year= 2006 |pmid= 16534118 |doi= 10.1212/01.wnl.0000201275.18875.ac
*cite journal | author=James PA, Cader MZ, Muntoni F, "et al." |title=Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. |journal=Neurology |volume=67 |issue= 9 |pages= 1710–2 |year= 2006 |pmid= 17101916 |doi= 10.1212/01.wnl.0000242619.52335.bc
*cite journal | author=Xie W, Schimmel P, Yang XL |title=Crystallization and preliminary X-ray analysis of a native human tRNA synthetase whose allelic variants are associated with Charcot-Marie-Tooth disease. |journal=Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. |volume=62 |issue= Pt 12 |pages= 1243–6 |year= 2006 |pmid= 17142907 |doi= 10.1107/S1744309106046434
*cite journal | author=Cader MZ, Ren J, James PA, "et al." |title=Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy. |journal=FEBS Lett. |volume=581 |issue= 16 |pages= 2959–64 |year= 2007 |pmid= 17544401 |doi= 10.1016/j.febslet.2007.05.046
*cite journal | author=Xie W, Nangle LA, Zhang W, "et al." |title=Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=104 |issue= 24 |pages= 9976–81 |year= 2007 |pmid= 17545306 |doi= 10.1073/pnas.0703908104PBB_Controls
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