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2.4.1.142: chitobiosyldiphosphodolichol beta-mannosyltransferase

This is an abbreviated version!
For detailed information about chitobiosyldiphosphodolichol beta-mannosyltransferase, go to the full flat file.

Word Map on EC 2.4.1.142

Reaction

GDP-alpha-D-mannose
+
N-acetyl-beta-D-glucosaminyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-diphosphodolichol
=
GDP
 +
beta-D-mannosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-diphosphodolichol

Synonyms

ALG1, ALG1 beta1,4 mannosyltransferase, Alg1 mannosyltransferase, Alg1 protein, Alg1p, beta-1,4 mannosyltransferase, beta1,4-MT, chitobiosyldiphosphodolichol beta-mannosyltransferase, GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase, GDP-mannose-dolichol diphosphochitobiose mannosyltransferase, guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase-1, guanosine diphosphomannose-dolichol diphosphochitobiose mannosyltransferase, mannosyltransferase I, MT-1, MT-I

ECTree

     2 Transferases
         2.4 Glycosyltransferases
             2.4.1 Hexosyltransferases
                2.4.1.142 chitobiosyldiphosphodolichol beta-mannosyltransferase

Cloned

Cloned on EC 2.4.1.142 - chitobiosyldiphosphodolichol beta-mannosyltransferase

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CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
expression in Saccharomyces cerevisiae
expression of wild-type and mutant hALG1 in Saccharomyces cerevisiae alg1-1 strain
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gene ALG1, located on chromosome 16p13.3, genomic structure, genotyping. Gene-gene interaction analysis of genes ALG1 and WDR3
gene Alg1, recombinant expression of GFP-tagged enzyme in Saccharomyces cerevisiae, recombinant expression of His6- or FLAG-tagged Alg1 mutants in Saccharomyces cerevisiae strain XGY29, in which chromosomal ALG1 is under the control of the glucose-repressible GAL1/10 promoter
gene ALG1, recombinant expression of N-terminally His10-tagged enzyme in Escherichia coli strain BL21-Gold (DE3)
gene HMT-1, DNA and amino acid sequence determination and analysis, cloning from HeLa cells, subcloning in Escherichia coli strain JM109. Detection of potential cis-acting motifs in a 1 kb region upstream from initiation codon of the HMT-1 and analysis of transcriptional regulation of gene HMT-1, determination of initiation site for the HMT-1 transcription, overview. Semi-quantitative RT-PCR enzyme expression analysis. Expression profile of the HMT-1 among various tissues, overview
glycosylation and growth of Alg1-deficient PRY56 yeast cells, showing a temperature-sensitive phenotype, can be restored by the human wild-type allele, only slight restoration is observed after transformation with the patients‘ allelles. One patient has homozygous point mutation S258L, the other patient is compound heterozygous for the mutations S258L and E342O. Mutation in the semiconserved regions of the HMT-1 gene causes drastically reduced enzyme activity, leading to a severe disease with death in early infancy
patient with congenital disorder of glycosylation is compound heterozygous for three mutations in the ALG1 gene, leading to the amino acid substitutions S150R and D429E on one allele and S258L on the other. The detrimental effect of these mutations on ALG1 protein function is demonstrated in a complementation assay. This novel type of congenital disorder of glycosylation should be reffered to as CDG-Ik
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