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  4. Recombinant Human Glycine--tRNA ligase (GARS)

Recombinant Human Glycine--tRNA ligase (GARS)

  • 中文名稱：
    人GARS重組蛋白
  • 貨號(hào)：
    CSB-YP009262HU
  • 規(guī)格：
  • 來(lái)源：
    Yeast
  • 其他：
  • 中文名稱：
    人GARS重組蛋白
  • 貨號(hào)：
    CSB-EP009262HU
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 其他：
  • 中文名稱：
    人GARS重組蛋白
  • 貨號(hào)：
    CSB-EP009262HU-B
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人GARS重組蛋白
  • 貨號(hào)：
    CSB-BP009262HU
  • 規(guī)格：
  • 來(lái)源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人GARS重組蛋白
  • 貨號(hào)：
    CSB-MP009262HU
  • 規(guī)格：
  • 來(lái)源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    GARS
  • Uniprot No.：
  • 別名：
    GARS1; GARSGlycine--tRNA ligase; EC 6.1.1.14; Diadenosine tetraphosphate synthetase; Ap4A synthetase; EC 2.7.7.-; Glycyl-tRNA synthetase; GlyRS; Glycyl-tRNA synthetase 1
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度：
    Full length protein
  • 表達(dá)區(qū)域：
    1-739
  • 氨基酸序列
    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
  • 蛋白標(biāo)簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產(chǎn)品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復(fù)溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項(xiàng)：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP). Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasis.
  • 基因功能參考文獻(xiàn)：
    1. In support of GARS variant pathogenicity, our patient shows striking phenotypic overlap with other patients having ARS-related recessive diseases; this observation is consistent with the essential function of GARS in both cellular locations. In summary, our clinical, genetic, and functional analyses expand the phenotypic spectrum associated with GARS variants PMID: 28675565
    2. In this Chinese Han population a novel Charcot-Marie-Tooth disease-associated gene mutations of GARS (c.794C>T) was discovered. PMID: 27862672
    3. At the active site, a glycyl-AMP molecule is synthesized and is waiting for the transfer of the glycyl moiety to occur. PMID: 27261259
    4. GlyRS functions as a chaperone that critically supports neddylation. PMID: 27348078
    5. Data indicate that dimerization is required for the dominant neurotoxicity of disease-associated GARS mutations and provide a rapid, tractable model for studying newly identified GARS variants for a role in human disease. PMID: 27008886
    6. one of the mRNAs isoforms tightly controls expression and localization of human GARS. PMID: 26327585
    7. This study reports two crystal structures of human GlyRS variants, in the free form and in complex with tRNA(Gly) respectively, and reveal new aspects of the glycylation mechanism. PMID: 26797133
    8. GARS mutations are an uncommon cause of Charcot-Marie-Tooth Disease (CMT) in Taiwan. The p.Asp146Tyr and p.Met238Arg mutations are associated with early-onset axonal CMT. PMID: 26244500
    9. Our findings suggest that mutant GlyRS gains access to ectopic sub-compartments of the motor neuron, providing a possible explanation for the selective neuropathology caused by mutations in a widely expressed gene. PMID: 25972375
    10. Expression of three CMT-mutant GARS proteins in Drosophila induces defects in motor performance and motor and sensory neuron morphology, and shortens lifespan. PMID: 26138142
    11. The c.999G>T mutation is a novel mutation of the glycyl-tRNA synthetase gene that has not been previously reported. The phenotype of this family is Charcot-Marie-Tooth disease type 2D, which is first reported in Chinese population. PMID: 26000875
    12. we propose that the disease-causing L129P mutant of glycyl-tRNA synthetase is linked to a distribution defect in peripheral nerves in vivo. PMID: 25218976
    13. our data indicate that impaired function is a key component of GARS-mediated CMT disease and emphasize the need for careful genetic and functional evaluation before implicating a variant in disease onset. PMID: 25168514
    14. This study presents genetic evidence for common mutant-specific interactions between two CMT-associated aminoacyl-tRNA synthetases, lending support for a shared mechanism responsible for the synthetase-induced peripheral neuropathies. PMID: 24807208
    15. We developed an ELISA to detect anti-glycyl-tRNA synthetase by using recombinant protein PMID: 24508626
    16. Report crystal structures of wild type and mutant GlyRS in complex with tRNA and with small substrates and describe the molecular details of enzymatic recognition of the key tRNA identity elements in the acceptor stem and the anticodon loop. PMID: 24898252
    17. we believe that these two novel GARS mutations are the underlying causes of the distal hereditary motor neuropathy type V phenotype PMID: 23279345
    18. GRS bound to different ERK-activated tumor cells, and released phosphatase 2A (PP2A) from CDH6. PMID: 22345558
    19. missense mutations of Gars may cause some loss of function, the dominant neuropathy phenotype observed in mice is caused by a dose-dependent gain of function that is not mitigated by over-expression of functional wild-type protein. PMID: 22144914
    20. No pathogenic mutations were found, excluding the role of GARS gene as a possible factor in the aetiology of Hirayama disease in this cohort PMID: 19412816
    21. GARS mutation is a rare cause of Charcot-Marie-Tooth neuropathy among Japanese patients. PMID: 19329989
    22. Four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V PMID: 12690580
    23. A novel heterozygous missense GARS gene mutation (D500N) was identified in members of a family affected byCharcot-Marie-Tooth type 2D. PMID: 16534118
    24. We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. PMID: 17101916
    25. The crystal belonged to space group P4(3)2(1)2 or its enantiomorphic space group P4(1)2(1)2, & diffracted X-rays to 3.0 A resolution. The asymmetric unit contained 1 GlyRS molecule & had a solvent content of 69%. PMID: 17142907
    26. Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase. PMID: 17544401
    27. The structure of wild type and Charcot-Marie-Tooth-causing mutant of homodimeric GlyRS are reported. PMID: 17545306
    28. Charcot-Marie-Tooth (CMT) disease-causing mutations of glycine-tRNA synthetase share a common defect in localization which may be connected to a change in surfaces at the dimer interface, and may cause a dominant axonal form of CMT (type 2D). PMID: 17595294
    29. we present a comparison between the crystal structures of the eubacterial Escherichia coli and the human tRNA(Gly) acceptor stem microhelices and their surrounding hydration patterns. PMID: 18275849
    30. human glycyl-tRNA synthetase has a role in Ap4A homeostasis PMID: 19710017

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  • 相關(guān)疾?。?/div>
    Charcot-Marie-Tooth disease 2D (CMT2D); Neuronopathy, distal hereditary motor, 5A (HMN5A)
  • 亞細(xì)胞定位：
    Cytoplasm. Cell projection, axon. Secreted. Secreted, extracellular exosome.; [Isoform 1]: Mitochondrion. Cytoplasm.; [Isoform 2]: Cytoplasm. Cell projection, axon.
  • 蛋白家族：
    Class-II aminoacyl-tRNA synthetase family
  • 組織特異性：
    Widely expressed, including in brain and spinal cord.; [Isoform 2]: Expressed in brain, spinal cord, muscle, heart and spleen.; [Isoform 1]: Expressed in brain, spinal cord, muscle, heart, spleen and liver.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 4162

    OMIM: 600287

    KEGG: hsa:2617

    STRING: 9606.ENSP00000373918

    UniGene: Hs.404321