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Literature summary extracted from

  • Kranz, C.; Denecke, J.; Lehle, L.; Sohlbach, K.; Jeske, S.; Meinhardt, F.; Rossi, R.; Gudowius, S.; Marquardt, T.
    Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I (2004), Am. J. Hum. Genet., 74, 545-551.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.4.1.142 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 Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.4.1.142 E342L 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 Homo sapiens
2.4.1.142 S258L 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 Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
2.4.1.142 Homo sapiens Q9BT22
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.4.1.142 GDP-alpha-D-mannose + chitobiosyldiphosphodolichol
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 Homo sapiens GDP + beta-(1->4)-D-mannosylchitobiosyldiphosphodolichol
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.4.1.142 mannosyltransferase I
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 Homo sapiens
2.4.1.142 MT-I
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 Homo sapiens