Gnptg

Summary

Gene Symbol: Gnptg
Description: N-acetylglucosamine-1-phosphotransferase, gamma subunit
Alias: 6430527N14Rik, A830081F19, AU067667, AU067744, Mdcp1, Tce7, N-acetylglucosamine-1-phosphotransferase subunit gamma, M6PR domain-containing protein 1, T-complex expressed 7, UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma, glcNAc-1-phosphotransferase subunit gamma, mannose-6-phosphate receptor domain
Species: mouse
Products:     Gnptg

Top Publications

  1. Lee W, Payne B, Gelfman C, Vogel P, Kornfeld S. Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases. J Biol Chem. 2007;282:27198-203 pubmed
    ..These findings demonstrate that the alpha/beta-subunits, in addition to their catalytic function, have some ability to recognize acid hydrolases as specific substrates. This process is enhanced by the gamma-subunit. ..
  2. Vogel P, Payne B, Read R, Lee W, Gelfman C, Kornfeld S. Comparative pathology of murine mucolipidosis types II and IIIC. Vet Pathol. 2009;46:313-24 pubmed publisher
    ..alterations in secretory cells of several exocrine glands; however, lesions in gamma-subunit deficient (Gnptg(-/-)) mice were milder and more restricted in distribution than in alpha/beta-subunit deficient (Gnptab(-/-)) mice...
  3. Qian Y, Lee I, Lee W, Qian M, Kudo M, Canfield W, et al. Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. J Biol Chem. 2010;285:3360-70 pubmed publisher
    ..We postulate that the mannose 6-phosphate receptor homology domain of the gamma subunit binds and presents the high mannose glycans of the acceptor to the alpha/beta catalytic site in a favorable manner. ..
  4. Sun Q, Li J, Wang C, Huang X, Huang H, Du D, et al. Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit in cells induced an I-cell-like phenotype of mucolipidosis. Gene. 2005;347:55-64 pubmed
  5. Idol R, Wozniak D, Fujiwara H, Yuede C, Ory D, Kornfeld S, et al. Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. PLoS ONE. 2014;9:e109768 pubmed publisher
  6. Encarnação M, Kollmann K, Trusch M, Braulke T, Pohl S. Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase. J Biol Chem. 2011;286:5311-8 pubmed publisher
    ..The data provide evidence that assembly of the GlcNAc-1-phosphotransferase complex takes place in the ER and requires dimerization of the ?-subunits. ..
  7. Schrader K, Heravi Moussavi A, Waters P, Senz J, Whelan J, Ha G, et al. Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. J Pathol. 2011;225:12-8 pubmed publisher
    ..with spondylo-epiphyseal dysplasia and retinitis pigmentosa and identified a six-base-pair (6-bp) deletion in GNPTG, the gene implicated in mucolipidosis type III?...