Information on EC 2.4.1.312 - protein O-mannose beta-1,4-N-acetylglucosaminyltransferase

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The expected taxonomic range for this enzyme is: Homo sapiens

EC NUMBER
COMMENTARY hide
2.4.1.312
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RECOMMENDED NAME
GeneOntology No.
protein O-mannose beta-1,4-N-acetylglucosaminyltransferase
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REACTION
REACTION DIAGRAM
COMMENTARY hide
ORGANISM
UNIPROT
LITERATURE
UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[protein] = UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]
show the reaction diagram
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PATHWAY
BRENDA Link
KEGG Link
MetaCyc Link
Mannose type O-glycan biosynthesis
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Metabolic pathways
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SYSTEMATIC NAME
IUBMB Comments
UDP-N-acetyl-alpha-D-glucosamine:alpha-D-mannosyl-threonyl-[protein] 4-beta-N-acetyl-D-glucosaminyltransferase
The human protein is involved in the formation of a phosphorylated trisaccharide on a threonine residue of alpha-dystroglycan, an extracellular peripheral glycoprotein that acts as a receptor for extracellular matrix proteins containing laminin-G domains.
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
malfunction
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mutations of GTDC2 are identified in Walker-Warburg syndrome
physiological function
beta-1,3-N-acetylgalactosaminyltransferase2 B3GALNT2 and GTDC2 act coordinately on O-mannose to synthesize the O-mannosyl glycan GalNAc-beta-3-GlcNAc-beta-4-Man present in alpha-dystroglycan. Kinase SGK196 phosphorylates the 6-position of O-mannose using ATP
SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[protein]
UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]
show the reaction diagram
additional information
?
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NATURAL SUBSTRATES
NATURAL PRODUCTS
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[protein]
UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]
show the reaction diagram
additional information
?
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GTDC2 generates CTD110.6 antibody-reactive N-acetylglucosamine epitopes on the O-mannosylated alpha-dystroglycan in the endoplasmic reticulum
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SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SOURCE
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY hide
GeneOntology No.
LITERATURE
SOURCE
APPLICATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
medicine
mutations in GTDC2, beta-1,3-N-acetylgalactosaminyltransferase 2B3GALNT2, and kinase SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy