Gene Symbol: Pomgnt1
Description: protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
Alias: 0610016I07Rik, 4930467B06Rik, protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1, O-mannosyl N-acetylglucosaminyltransferase
Species: mouse
Products:     Pomgnt1

Top Publications

  1. Xiong H, Kobayashi K, Tachikawa M, Manya H, Takeda S, Chiyonobu T, et al. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Biochem Biophys Res Commun. 2006;350:935-41 pubmed
    ..b>POMGnT1 and POMTs, the gene products responsible for MEB and WWS, respectively, synthesize unique O-mannose sugar chains ..
  2. Li X, Zhang P, Yang Y, Xiong Y, Qi Y, Hu H. Differentiation and developmental origin of cerebellar granule neuron ectopia in protein O-mannose UDP-N-acetylglucosaminyl transferase 1 knockout mice. Neuroscience. 2008;152:391-406 pubmed publisher
    The cerebellar cortex of protein O-mannose UDP-N-acetylglucosaminyl transferase 1 (POMGnT1) knockout mice contains discrete clusters of granule neurons that fail to migrate from the external germinal layer (EGL) to the internal granule ..
  3. Kanagawa M, Nishimoto A, Chiyonobu T, Takeda S, Miyagoe Suzuki Y, Wang F, et al. Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. Hum Mol Genet. 2009;18:621-31 pubmed publisher
    ..In addition, transfer of LARGE produced laminin-binding forms of alpha-dystroglycan in both knock-in mice and the POMGnT1 mutant mouse, which is another model of dystroglycanopathy...
  4. Liu J, Ball S, Yang Y, Mei P, Zhang L, Shi H, et al. A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). Mech Dev. 2006;123:228-40 pubmed
    Protein O-mannose beta1,2-N-acetyglucosaminyltransferase 1 (POMGnT1) is an enzyme involved in the synthesis of O-mannosyl glycans. Mutations of POMGnT1 in humans result in the muscle-eye-brain (MEB) disease...
  5. Kuga A, Kanagawa M, Sudo A, Chan Y, Tajiri M, Manya H, et al. Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of ?-dystroglycan. J Biol Chem. 2012;287:9560-7 pubmed publisher
  6. Lommel M, Willer T, Strahl S. POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. Glycobiology. 2008;18:615-25 pubmed publisher
    ..We prove that tPOMT2 is highly conserved among mammals, including humans, suggesting a crucial function that is distinct from sPOMT2. ..
  7. Henion T, Qu Q, Smith F. Expression of dystroglycan, fukutin and POMGnT1 during mouse cerebellar development. Brain Res Mol Brain Res. 2003;112:177-81 pubmed
    ..The underlying genetic defects in two such diseases have been localized to the POMGnT1 glycosyltransferase and the putative glycosyltransferase fukutin...
  8. Li J, Yu M, Feng G, Hu H, Li X. Breaches of the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophies. Neurosci Lett. 2011;505:19-24 pubmed publisher
    ..There are good mouse models for these CMDs that include POMGnT1 knockout, POMT2 knockout and Large(myd) mice with all exhibiting defects in dentate gyrus...
  9. Dwyer C, Katoh T, Tiemeyer M, Matthews R. Neurons and glia modify receptor protein-tyrosine phosphatase ζ (RPTPζ)/phosphacan with cell-specific O-mannosyl glycans in the developing brain. J Biol Chem. 2015;290:10256-73 pubmed publisher
    ..Furthermore, their absence in CMDs suggests that hypoglycosylation of RPTPζ/phosphacan may have different functional consequences in neurons and glia. ..

More Information


  1. Zhang P, Yang Y, Candiello J, Thorn T, Gray N, Halfter W, et al. Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy. Matrix Biol. 2013;32:196-207 pubmed publisher
    Mutations in glycosyltransferases, such as protein O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1), causes disruptions of basement membranes (BMs) that results in neuronal ectopias and muscular dystrophy...
  2. Stalnaker S, Aoki K, Lim J, Porterfield M, Liu M, Satz J, et al. Glycomic analyses of mouse models of congenital muscular dystrophy. J Biol Chem. 2011;286:21180-90 pubmed publisher
    ..structures released from proteins of three different knock-out mouse models associated with O-mannosylation (POMGnT1, LARGE (Myd), and DAG1(-/-))...
  3. Takahashi H, Kanesaki H, Igarashi T, Kameya S, Yamaki K, Mizota A, et al. Reactive gliosis of astrocytes and Müller glial cells in retina of POMGnT1-deficient mice. Mol Cell Neurosci. 2011;47:119-30 pubmed publisher
    Protein O-linked mannose beta1, 2-N-acetylglucosaminyltransferase 1 (POMGnT1) is an enzyme that catalyzes the transfer of N-acetylglucosamine to O-mannose of glycoproteins...
  4. Hu H, Li J, Zhang Z, Yu M. Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression. Neurosci Lett. 2011;489:10-5 pubmed publisher
    ..abolished at the outer plexiform layer of two mouse models, protein O-mannose N-acetylglucosaminyl transferase 1 (POMGnT1) knockout and Large(myd) mice. Overexpressing LARGE restored this interaction in POMGnT1 knockout cells...
  5. Miyagoe Suzuki Y, Masubuchi N, Miyamoto K, Wada M, Yuasa S, Saito F, et al. Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro. Mech Dev. 2009;126:107-16 pubmed publisher
    Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) is an enzyme that transfers N-acetylglucosamine to O-mannose of glycoproteins. Mutations of the POMGnT1 gene cause muscle-eye-brain (MEB) disease...
  6. Hu H, Candiello J, Zhang P, Ball S, Cameron D, Halfter W. Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophy. Mol Vis. 2010;16:1415-28 pubmed
    ..Protein O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1) knockout mice, one of the mouse models of muscular dystrophy, exhibit a thinner retina with reduced density of ..
  7. Yagi H, Nakagawa N, Saito T, Kiyonari H, Abe T, Toda T, et al. AGO61-dependent GlcNAc modification primes the formation of functional glycans on ?-dystroglycan. Sci Rep. 2013;3:3288 pubmed publisher
    ..These findings provide a key missing link for understanding how the physiologically critical glycan motif is displayed on ?-DG and provides new insights on the pathological mechanisms of dystroglycanopathy. ..
  8. Lan J, Guo P, Lin Y, Mao Q, Guo L, Ge J, et al. Role of glycosyltransferase PomGnT1 in glioblastoma progression. Neuro Oncol. 2015;17:211-22 pubmed publisher
    ..We reported previously that levels of peptide-O-linked mannose ?-1,2-N-acetylglucosaminyltransferase 1 (PomGnT1) in glioma specimens correlated with tumor grade...
  9. Liu J, Yang Y, Li X, Zhang P, Qi Y, Hu H. Cellular and molecular characterization of abnormal brain development in protein o-mannose N-acetylglucosaminyltransferase 1 knockout mice. Methods Enzymol. 2010;479:353-66 pubmed publisher
    Protein O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1) is an enzyme that catalyzes the transfer of N-acetylglucosamine to O-mannose of glycoproteins...
  10. Dwyer C, Baker E, Hu H, Matthews R. RPTP?/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. Neuroscience. 2012;220:47-61 pubmed publisher
    ..model of muscle-eye-brain disease lacking functional protein O-mannose ?-1,2-N-acetylglucosaminyltransferase (POMGnT1), we show that RPTP?/phosphacan is shifted to a lower molecular weight and distinct carbohydrate epitopes ..