2.4.1.259: dolichyl-P-Man:Man6GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase

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For detailed information about dolichyl-P-Man:Man6GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase, go to the full flat file.

Reaction

Synonyms

ALG9, ALG9 alpha1,2 mannosyltransferase, ALG9 mannosyltransferase, dolichylphosphomannose-dependent ALG9 mannosyltransferase, EBS3, EC 2.4.1.130

ECTree

     2 Transferases

         2.4 Glycosyltransferases

             2.4.1 Hexosyltransferases

                2.4.1.259 dolichyl-P-Man:Man6GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase

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Results	in table
7	AA Sequence
5	Application
1	Cloned(Commentary)
1	Expression
4	General Information
1	Localization
3	Natural Substrates/ Products (Substrates)
11	Organism
5	Pathway
3	Protein Variants
1	Reaction
11	Reference
3	Source Tissue
4	Substrates and Products (Substrate)
12	Synonyms
1	Systematic Name

General Information

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General Information on EC 2.4.1.259 - dolichyl-P-Man:Man6GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase

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GENERAL INFORMATION

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

malfunction

3 entries

physiological function

Homo sapiens

Q9H6U8

inactivation of Alg9 results in impaired maturation and defective glycosylation of polycystin-1

759415

malfunction

Saccharomyces cerevisiae

P53868

accumulation of D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->3)-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol in Saccharomyces cerevisiae DELTAalg9 mutant

636758

malfunction

Homo sapiens

Q9H6U8

an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A>G) mutation. This patient presents with psychomotor retardation, axial hypotonia, epilepsy, failure to thrive, inverted nipples, hepatomegaly, and pericardial effusion. Due to theALG9 deficiency, the cells of this patient accumulated the lipid-linked oligosaccharides Man6GlcNAc2-PP-dolichol and Man8GlcNAc2-PP-dolichol. Lipid-linked Man6GlcNAc2 and Man8GlcNAc2 are transferred onto proteins with the same efficiency. In addition, glycoproteins bearing these Man6GlcNAc2 and Man8GlcNAc2 structures efficiently enter in the glucosylation/deglucosylation cycle of the quality control system to assist in protein folding. In comparison with control cells, patient’s cells degrade misfolded glycoproteins at an increasing rate. The Man8GlcNAc2 isomer C on the patient’s glycoproteins is found to promote the degradation of misfolded glycoproteins

708614

malfunction

Homo sapiens

Q9H6U8

congenital disorders of glycosylation, a deficiency of the ALG9 alpha1,2 mannosyltransferase enzyme, causes an accumulation of lipid-linked-GlcNAc2Man6 and -GlcNAc2Man8 structures, which is paralleled by the transfer of incomplete oligosaccharide precursors to protein. A homozygous point-mutation E523K is detected in the ALG9 gene. The ALG9 defect found in the patient with CDG, who presents with developmental delay, hypotonia, seizures, and hepatomegaly, shows that efficient lipid-linked oligosaccharide synthesis is required for proper human development and physiology

707031