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マウス GGT1  遺伝子

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GGT1
MP200846 

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    GGT1 サマリー & タンパク質情報

    GGT1 背景

    遺伝子の概要: The enzyme encoded by GGT1 gene catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein, and is present in tissues involved in absorption and secretion. This enzyme is a member of the gamma-glutamyltransferase protein family, of which many members have not yet been fully characterized and some of which may represent pseudogenes. GGT1 gene is classified as type I gamma-glutamyltransferase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]
    General information above from NCBI
    触媒活性: A (5-L-glutamyl)-peptide + an amino acid = a peptide + a 5-L-glutamyl amino acid.; Glutathione + H(2)O = L-cysteinylglycine + L-glutamate.; Leukotriene C(4) + H(2)O = leukotriene D(4) + L-glutamate.
    酵素調節: ENZYME REGULATION: Activated by autocatalytic cleavage. {ECO:0000269|PubMed:23682772}.
    サブユニット構造: Heterodimer composed of the light and heavy chains. The active site is located in the light chain. {ECO:0000269|PubMed:24047895, ECO:0000269|PubMed:8095045}.
    細胞内位置: Cell membrane {ECO:0000269|PubMed:23682772, ECO:0000269|PubMed:8095045}; Single-pass type II membrane protein {ECO:0000269|PubMed:23682772, ECO:0000269|PubMed:8095045}.
    組織特異性: Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein.
    翻訳後: N-glycosylated on both chains. Contains hexoses, hexosamines and sialic acid residues. Glycosylation profiles tested in kidney and liver tissues reveal the presence of tissue-specific and site-specific glycan composition, despite the overlap in composition among the N-glycans. A total of 36 glycan compositions, with 40 unique structures are observed. Up to 15 different glycans are observed at a single site, with site-specific variation in glycan composition. The difference in glycosylation profiles in the 2 tissues do not affect the enzyme activity. {ECO:0000269|PubMed:15084671, ECO:0000269|PubMed:17924658, ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:19463, ECO:0000269|PubMed:20622017, ECO:0000269|PubMed:23682772, ECO:0000269|PubMed:24047895, ECO:0000269|PubMed:2900635}.; Cleaved by autocatalysis into a large and a small subunit and the autocatalytic cleavage is essential to the functional activation of the enzyme.
    疾患関連性: DISEASE: Glutathionuria (GLUTH) [MIM:231950]: Autosomal recessive disease. Note=The disease is caused by mutations affecting the gene represented in this entry.
    シーケンスの類似性: Belongs to the gamma-glutamyltransferase family. {ECO:0000305}.
    General information above from UniProt

    GGT1 belongs to the gamma-glutamyltransferase protein family. Many members of this family have not yet been fully characterized and some of which may represent pseudogenes. GGT1 is composed of a heavy chain and a light chain. It catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. GGT1 also initiates extracellular glutathione (GSH) breakdown, provides cells with a local cysteine supply and contributes to maintain intracelular GSH level. As part of the cell antioxidant defense mechanism, GGT1 can be detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Defects in GGT1 can cause glutathionuria which is known as an autosomal recessive disease.

    GGT1 代替名

    GGT,GTG,CD224,GGT1,D22S672,D22S732, [homo-sapiens]
    CD224,D22S672,D22S732,gamma-glutamyl transpeptidase,gamma-glutamyltranspeptidase 1,GGT,GGT 1,glutamyl transpeptidase,glutathione hydrolase 1,GTG,leukotriene-C4 hydrolase, [human]
    CD224,dwg,gamma-glutamyl transpeptidase,gamma-glutamyltranspeptidase 1,GGT,GGT 1,Ggtp,glutathione hydrolase 1,leukotriene-C4 hydrolase, [mouse]
    GGT,dwg,Ggtp,CD224,GGT1,GGT-1, [mus-musculus]

    GGT1 関連研究

  • Bulle F, et al. (1987) Assignment of the human gamma-glutamyl transferase gene to the long arm of chromosome 22. Hum Genet. 76(3):283-6.
  • Tate SS, et al. (1988) Renal gamma-glutamyl transpeptidases: structural and immunological studies. Arch Biochem Biophys. 262(2):397-408.
  • Tate SS, et al. (1988) In vitro translation and processing of human hepatoma cell (Hep G2) gamma-glutamyl transpeptidase. Biochem Biophys Res Commun. 154(3):1167-73.
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