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Information on EC 2.4.1.267 - dolichyl-P-Glc:Man9GlcNAc2-PP-dolichol alpha-1,3-glucosyltransferase and Organism(s) Homo sapiens

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IUBMB Comments
The successive addition of three glucose residues by EC 2.4.1.267, EC 2.4.1.265 (Dol-P-Glc:Glc1Man9GlcNAc2-PP-Dol alpha-1,3-glucosyltransferase) and EC 2.4.1.256 (Dol-P-Glc:Glc2Man9GlcNAc2-PP-Dol alpha-1,2-glucosyltransferase) represents the final stage of the lipid-linked oligosaccharide assembly.
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Homo sapiens
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The taxonomic range for the selected organisms is: Homo sapiens
The enzyme appears in selected viruses and cellular organisms
Synonyms
halg6, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SYSTEMATIC NAME
IUBMB Comments
dolichyl beta-D-glucosyl phosphate: D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->6)]-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol alpha-1,3-mannosyltransferase
The successive addition of three glucose residues by EC 2.4.1.267, EC 2.4.1.265 (Dol-P-Glc:Glc1Man9GlcNAc2-PP-Dol alpha-1,3-glucosyltransferase) and EC 2.4.1.256 (Dol-P-Glc:Glc2Man9GlcNAc2-PP-Dol alpha-1,2-glucosyltransferase) represents the final stage of the lipid-linked oligosaccharide assembly.
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
physiological function
fibroblasts from an ALG6-congenital disorders of glycosylation patient that carries the A333V mutation on the maternal ALG6 allele and the S308R and Y131H mutations on the paternal ALG6 allele assemble Dol-PP-GlcNAc2Man9 as the largest oligosaccharide donor. 30–40% of oligosaccharyltransferase STT3A-dependent glycosylation sites and 20% of oligosaccharyltransferase STT3B-dependent sites are skipped in ALG6-congenital disorders of glycosylation fibroblasts
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
ALG6_HUMAN
507
10
58121
Swiss-Prot
Secretory Pathway (Reliability: 1)
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
A333V
analysis of lipid-linked oligosaccharides in cultured fibroblasts indicates accumulation of Man9GlcNAc2-PP-Dol. Sequence analysis of ALG6 reveals a deletion of exon 3 (c.257 + 5G > A) in combination with a missense mutation (c.998C > T, p.Ala333Val). The patient shows skeletal dysplasia with brachytelephalangy
delI299/F304S
patient with three mutations in the hALG6 gene. The maternal allele has an intronic G -> A mutation resulting in skipping of exon3 (IVS3 + 5G > A). This produces a nonfunctional enzyme as shown by its inability to restore normal glycosylation in a Saccharomyces cerevisiae strain lacking a functional ALG6. The paternal allele has two mutations. One is a deletion of three bases (895–897delATA) leading to an in-frame deletion of isoleucine 299 (delI299) located in a transmembrane domain. The second mutation on the same allele 911T > C causes a F304S change. When expressed in the ALG6 deficient yeast strain, this allele restores glycosylation but the mRNA is unstable or inefficiently transcribed, contributing to the impaired glycosylation in the patient
F304S
natural variant, common polymorphism reduces the ability to rescue defective glycosylation of an alg6-deficient strain of S. cerevisiae during rapid growth, may exacerbate the clinical severity of patients with CDG1A
Y131H
frequent natural variant, the cause of congenital disorder of glycosylation-Ic (CDG-Ic). One patient with typical CDG-Ic symptoms and a homozygous p.Tyr131His alteration in ALG6. In contrast to most CDG patients, her LLO and plasma transferrin glycosylation appeared normal. Thus, it is unclear whether Y131H causes CDG-Ic or contributes to the symptoms
CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
expressed in the ALG6 deficient yeast strain
APPLICATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
medicine
single nucleotide polymorphisms ALG6 rs10889417 G>A and GALNTL4 rs12270446 G>C independently predict cutaneous melanoma disease-specific survival. The low death-risk-associated rs10889417 A allele is associated with increase in ALG6 mRNA expression levels in cultured skin fibroblasts and whole blood cells and the rs12270446 G allele is associated with decrease in GALNTL4 mRNA expression levels in skin tissues
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Drijvers, J.M.; Lefeber, D.J.; de Munnik, S.A.; Pfundt, R.; van de Leeuw, N.; Marcelis, C.; Thiel, C.; Koerner, C.; Wevers, R.A.; Morava, E.
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations
Clin. Genet.
77
507-509
2010
Homo sapiens (Q9Y672)
Manually annotated by BRENDA team
Westphal, V.; Kjaergaard, S.; Schollen, E.; Martens, K.; Grunewald, S.; Schwartz, M.; Matthijs, G.; Freeze, H.H.
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency
Hum. Mol. Genet.
11
599-604
2002
Homo sapiens (Q9Y672)
Manually annotated by BRENDA team
Westphal, V.; Xiao, M.; Kwok, P.Y.; Freeze, H.H.
Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic
Hum. Mutat.
22
420-421
2003
Homo sapiens (Q9Y672)
Manually annotated by BRENDA team
Westphal, V.; Schottstdt, C.; Marquardt, T.; Freeze, H.H.
Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic
Mol. Genet. Metab.
70
219-223
2000
Homo sapiens (Q9Y672)
Manually annotated by BRENDA team
Shrimal, S.; Gilmore, R.
Reduced expression of the oligosaccharyltransferase exacerbates protein hypoglycosylation in cells lacking the fully assembled oligosaccharide donor
Glycobiology
25
774-783
2015
Cricetulus griseus (G3GZD6), Homo sapiens (Q9Y672)
Manually annotated by BRENDA team
Zhou, B.; Zhao, Y.; Liu, H.; Luo, S.; Amos, C.; Lee, J.; Li, X.; Nan, H.; Wei, Q.
Novel genetic variants of ALG6 and GALNTL4 of the glycosylation pathway predict cutaneous melanoma-specific survival
Cancers (Basel)
12
288
2020
Homo sapiens (Q9Y672)
Manually annotated by BRENDA team