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Gene Review

ALG1  -  ALG1, chitobiosyldiphosphodolichol beta...

Homo sapiens

Synonyms: Asparagine-linked glycosylation protein 1 homolog, Beta-1,4-mannosyltransferase, CDG1K, Chitobiosyldiphosphodolichol beta-mannosyltransferase, GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase, ...

Alg1 is a gene involved in the early steps of the N-glycosylation pathway , in the synthesis of the N-glycan precursor. As almost all the genes involved in this process, it is associated with a Congenital Disorder of Glycosylation.



Disease relevance of ALG1

  • The molecular nature of a severe multisystemic disorder with a recurrent nonimmune hydrops fetalis was identified as deficiency of GDP-Man:GlcNAc(2)-PP-dolichol mannosyltransferase, the human orthologue of the yeast ALG1 gene (MIM 605907) [1].

Psychiatry related information on ALG1


High impact information on ALG1


Biological context of ALG1


Anatomical context of ALG1


Associations of ALG1 with chemical compounds

  • Genetic analysis of the patient's hALG1 gene identified a homozygous mutation leading to the exchange of a serine residue to leucine at position 258 in the hALG1 protein [1].
  • The accumulation pattern suggested a deficiency of the ALG1 beta1,4 mannosyltransferase, which adds the first mannose residue to lipid-linked oligosaccharides [15].
  • Incubation of patient fibroblast extracts with Man1GlcNAc2-PP-dolichol and GDP-mannose revealed a severely reduced activity of the mannosyltransferase elongating Man1GlcNAc2-PP dolichol [16].
  • In the patient's fibroblasts, the biosynthetic intermediate GlcNAc(2)Man(7) oligosaccharide was detected both on the lipid carrier dolichyl pyrophosphate and on newly synthesized glycoproteins, thus pointing to a defect in the dolichyl pyrophosphate-GlcNAc(2)Man(7)-dependent ALG12 alpha1,6 mannosyltransferase [17].
  • The 4'-OH group of GlcN is essential for the inositol acyltransferase and first mannosyltransferase [18].

Other interactions of ALG1

  • Expression of wild type but not of mutant hALG2 cDNA restored the mannosyltransferase activity and the biosynthesis of dolichol-linked oligosaccharides both in patient fibroblasts and in the alg2-1 yeast cells. hALG2 was shown to act as an alpha1,3-mannosyltransferase [16].
  • Using this approach, we have found, in a patient with CDG, a deficiency of the ALG9 alpha 1,2 mannosyltransferase enzyme, which causes an accumulation of lipid-linked-GlcNAc(2)Man(6) and -GlcNAc(2)Man(8) structures, which was paralleled by the transfer of incomplete oligosaccharides precursors to protein [19].
  • Approximately one-fifth of the WWS patients show mutations in POMT1, which result in complete loss of protein mannosyltransferase activity [20].
  • 8. The majority of N-acetylglucosaminyltransferase (90%) and mannosyltransferase (85%) activities is particulate but approximately 90% of both activities can be released into supernatant fluids by using Triton X-100 in the homogenizing buffer [21].

Analytical, diagnostic and therapeutic context of ALG1

  • Using the findings from this meta-analysis, along with suggestions and guidelines of previous researchers, we developed the Human Motor Area Template (HMAT) that can be used for ROI analysis [22].


  1. Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. Schwarz, M., Thiel, C., Lübbehusen, J., Dorland, B., de Koning, T., von Figura, K., Lehle, L., Körner, C. Am. J. Hum. Genet. (2004) [Pubmed]
  2. A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family. Baysal, B.E., Willett-Brozick, J.E., Badner, J.A., Corona, W., Ferrell, R.E., Nimgaonkar, V.L., Detera-Wadleigh, S.D. Neurogenetics (2002) [Pubmed]
  3. Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. Denecke, J., Kranz, C., von Kleist-Retzow, J.C.h., Bosse, K., Herkenrath, P., Debus, O., Harms, E., Marquardt, T. Pediatr. Res. (2005) [Pubmed]
  4. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Almeida, A.M., Murakami, Y., Layton, D.M., Hillmen, P., Sellick, G.S., Maeda, Y., Richards, S., Patterson, S., Kotsianidis, I., Mollica, L., Crawford, D.H., Baker, A., Ferguson, M., Roberts, I., Houlston, R., Kinoshita, T., Karadimitris, A. Nat. Med. (2006) [Pubmed]
  5. The role of protein arginine methylation in the formation of silent chromatin. Yu, M.C., Lamming, D.W., Eskin, J.A., Sinclair, D.A., Silver, P.A. Genes Dev. (2006) [Pubmed]
  6. The developmental timing regulator AIN-1 interacts with miRISCs and may target the argonaute protein ALG-1 to cytoplasmic P bodies in C. elegans. Ding, L., Spencer, A., Morita, K., Han, M. Mol. Cell (2005) [Pubmed]
  7. Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. Körner, C., Knauer, R., Stephani, U., Marquardt, T., Lehle, L., von Figura, K. EMBO J. (1999) [Pubmed]
  8. Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. Kranz, C., Denecke, J., Lehle, L., Sohlbach, K., Jeske, S., Meinhardt, F., Rossi, R., Gudowius, S., Marquardt, T. Am. J. Hum. Genet. (2004) [Pubmed]
  9. Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1. Takahashi, T., Honda, R., Nishikawa, Y. Glycobiology (2000) [Pubmed]
  10. Detection of dimethylarginines in protein hydrolysates by matrix-assisted laser desorption/ionization mass spectrometry. Hsieh, C.H., Tam, M.F. Anal. Biochem. (2006) [Pubmed]
  11. Glycosyltransferase activities in Golgi complex and endoplasmic reticulum fractions isolated from African trypanosomes. Grab, D.J., Ito, S., Kara, U.A., Rovis, L. J. Cell Biol. (1984) [Pubmed]
  12. Regulation of the Transport and Protein Levels of the Inositol Phosphorylceramide Mannosyltransferases Csg1 and Csh1 by the Ca2+-binding Protein Csg2. Uemura, S., Kihara, A., Iwaki, S., Inokuchi, J., Igarashi, Y. J. Biol. Chem. (2007) [Pubmed]
  13. Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. Thiel, C., Schwarz, M., Hasilik, M., Grieben, U., Hanefeld, F., Lehle, L., von Figura, K., Körner, C. Biochem. J. (2002) [Pubmed]
  14. The role of C-4-substituted mannose analogues in protein glycosylation. Effect of the guanosine diphosphate esters of 4-deoxy-4-fluoro-D-mannose and 4-deoxy-D-mannose on lipid-linked oligosaccharide assembly. McDowell, W., Grier, T.J., Rasmussen, J.R., Schwarz, R.T. Biochem. J. (1987) [Pubmed]
  15. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Grubenmann, C.E., Frank, C.G., Hülsmeier, A.J., Schollen, E., Matthijs, G., Mayatepek, E., Berger, E.G., Aebi, M., Hennet, T. Hum. Mol. Genet. (2004) [Pubmed]
  16. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. Thiel, C., Schwarz, M., Peng, J., Grzmil, M., Hasilik, M., Braulke, T., Kohlschütter, A., von Figura, K., Lehle, L., Körner, C. J. Biol. Chem. (2003) [Pubmed]
  17. ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. Grubenmann, C.E., Frank, C.G., Kjaergaard, S., Berger, E.G., Aebi, M., Hennet, T. Hum. Mol. Genet. (2002) [Pubmed]
  18. Substrate specificity of the Plasmodium falciparum glycosylphosphatidylinositol biosynthetic pathway and inhibition by species-specific suicide substrates. Smith, T.K., Gerold, P., Crossman, A., Paterson, M.J., Borissow, C.N., Brimacombe, J.S., Ferguson, M.A., Schwarz, R.T. Biochemistry (2002) [Pubmed]
  19. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. Frank, C.G., Grubenmann, C.E., Eyaid, W., Berger, E.G., Aebi, M., Hennet, T. Am. J. Hum. Genet. (2004) [Pubmed]
  20. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H.G., Guicheney, P., van Bokhoven, H. Hum. Mutat. (2006) [Pubmed]
  21. Lipid-mediated glycosylation in human liver. Characterization of the enzymatic transfer of N-acetylglucosamine from UDP-N-acetylglucosamine and mannose from GDP-mannose to dolichyl phosphate. Alhadeff, J.A., Watkins, P. Enzyme (1984) [Pubmed]
  22. Three-dimensional locations and boundaries of motor and premotor cortices as defined by functional brain imaging: a meta-analysis. Mayka, M.A., Corcos, D.M., Leurgans, S.E., Vaillancourt, D.E. Neuroimage (2006) [Pubmed]
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