GARS

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Glycyl-tRNA synthetase
PBB Protein GARS image.jpg
PDB rendering based on 2pme.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols GARS ; CMT2D; DSMAV; GlyRS; SMAD1
External IDs OMIM: 600287 MGI2449057 HomoloGene1547
RNA expression pattern
PBB GE GARS 208693 s at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 2617
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 353172

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000106105
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000029777

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| P41250
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q3TMM4

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_002047 (mRNA)
NP_002038 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_180678 (mRNA)
NP_851009 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 7: 30.6 - 30.64 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 6: 54.97 -  55.01 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Glycyl-tRNA synthetase, also known as GARS, is a human gene.[1]

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.[1]

References

  1. 1.0 1.1 "Entrez Gene: GARS glycyl-tRNA synthetase".

Further reading

  • 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. 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. 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.
  • Nichols RC, Pai SI, Ge Q; et al. (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.
  • 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. PMID 8816763.
  • Ionasescu V, Searby C, Sheffield VC; et al. (1997). "Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)". Hum. Mol. Genet. 5 (9): 1373–5. PMID 8872480.
  • 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. 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. 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. 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. 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. 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. 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. 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. PMID 17545306.

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