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Information on EC 2.4.1.312 - protein O-mannose beta-1,4-N-acetylglucosaminyltransferase and Organism(s) Homo sapiens and UniProt Accession Q8NAT1
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2.4.1.312 protein O-mannose beta-1,4-N-acetylglucosaminyltransferaseIUBMB Comments
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.
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Word Map
- 2.4.1.312
- muscular
- dystrophy
- muscle-eye-brain
- alpha-dystroglycan
-
walker-warburg
-
o-mannosylation
-
malformation
-
fukutin
- dystroglycanopathies
-
dystroglycan
- laminin
- glycosyltransferase
- lissencephaly
-
fukuyama
-
hypoglycosylation
-
alpha-dg
-
cobblestone
- alpha-dystroglycanopathies
-
largemyd
-
beta1,2-n-acetylglucosaminyltransferase
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limb-girdle
- gmppb
-
retrotransposal
- b3galnt2
-
fukutin-related
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dystrophy-dystroglycanopathy
-
ectopia
-
o-mannosyltransferase
-
laminin-binding
-
polymicrogyria
-
fukuyama-type
- medicine
The taxonomic range for the selected organisms is: Homo sapiens
The enzyme appears in selected viruses and cellular organisms
The enzyme appears in selected viruses and cellular organisms
Reaction Schemes
Synonyms
pomgnt1, pomgnt2, gtdc2, 
more
topSYNONYM 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
GTDC2
POMGNT2
GTDC2
-
-
-
-
POMGNT2
-
-
-
-
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.
SUBSTRATE
PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[IQEPPSRIVP-T-PTSPAIAPPT]
UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[IQEPPSRIVP-T-PTSPAIAPPT]
synthetic glycopeptide derived from alpha-dystroglycan
-
-
?
UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[PKRVRRQIHA-T-PTPVTAIGPP]
UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[PKRVRRQIHA-T-PTPVTAIGPP]
synthetic glycopeptide derived from alpha-dystroglycan
-
-
?
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]
synthetic acceptor, peptide corresponding to the mucin-like domain of human alpha-dystroglycan (residues 316-329), in which Thr-317 is modified by O-mannose but the remaining Thr/Ser residues are replaced with Ala
-
-
?
UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[TIRTRGAIIQ-T-LGPIQPTR]
UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[TIRTRGAIIQ-T-LGPIQPTR]
synthetic glycopeptide derived from alpha-dystroglycan
-
-
?
UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[YVEP-T-AV]
UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[YVEP-T-AV]
synthetic glycopeptide derived from alpha-dystroglycan
-
-
?
UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[IQEPPSRIVP-T-PTSPAIAPPT]
UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[IQEPPSRIVP-T-PTSPAIAPPT]
synthetic glycopeptide derived from alpha-dystroglycan
-
-
?
UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[PKRVRRQIHA-T-PTPVTAIGPP]
UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[PKRVRRQIHA-T-PTPVTAIGPP]
synthetic glycopeptide derived from alpha-dystroglycan
-
-
?
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]
UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[TIRTRGAIIQ-T-LGPIQPTR]
UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[TIRTRGAIIQ-T-LGPIQPTR]
synthetic glycopeptide derived from alpha-dystroglycan
-
-
?
UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[YVEP-T-AV]
UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[YVEP-T-AV]
synthetic glycopeptide derived from alpha-dystroglycan
-
-
?
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]
-
-
-
-
?
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]
-
-
-
?
additional information
?
-
-
GTDC2 possesses a protein O-mannose beta-1,4-Nacetylglucosaminyltransferase activity. No substrate: UDP-GalNAc
-
-
?
additional information
?
-
GTDC2 possesses a protein O-mannose beta-1,4-Nacetylglucosaminyltransferase activity. No substrate: UDP-GalNAc
-
-
?
additional information
?
-
isoform POMGNT2 displays significant primary amino acid selectivity near the site of O-mannosylation. In the POMGNT2 acceptor motif, arginines at -6 and -8 and an Ile at -3 position are conserved in addition to the Pro at +1 and the Thr at +2
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-
-
additional information
?
-
isoform POMGNT2 displays significant primary amino acid selectivity near the site of O-mannosylation. In the POMGNT2 acceptor motif, arginines at -6 and -8 and an Ile at -3 position are conserved in addition to the Pro at +1 and the Thr at +2
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-
-
additional information
?
-
-
GTDC2 generates CTD110.6 antibody-reactive N-acetylglucosamine epitopes on the O-mannosylated alpha-dystroglycan in the endoplasmic reticulum
-
-
?
additional information
?
-
isoform POMGNT1 is promiscouos for O-mannosylated peptides
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-
-
additional information
?
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isoform POMGNT1 is promiscouos for O-mannosylated peptides
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-
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NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
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]
additional information
?
-
-
GTDC2 generates CTD110.6 antibody-reactive N-acetylglucosamine epitopes on the O-mannosylated alpha-dystroglycan in the endoplasmic reticulum
-
-
?
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]
-
-
-
-
?
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]
-
-
-
?
KM VALUE [mM]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
2.2
3-O-(alpha-D-mannosyl)-L-threonyl-[PKRVRRQIHA-T-PTPVTAIGPP]
pH 6.5, 37°C
0.8
3-O-(alpha-D-mannosyl)-L-threonyl-[TIRTRGAIIQ-T-LGPIQPTR]
pH 6.5, 37°C
0.1
3-O-(alpha-D-mannosyl)-L-threonyl-[IQEPPSRIVP-T-PTSPAIAPPT]
pH 6.5, 37°C
1.2
3-O-(alpha-D-mannosyl)-L-threonyl-[PKRVRRQIHA-T-PTPVTAIGPP]
pH 6.5, 37°C
2.6
3-O-(alpha-D-mannosyl)-L-threonyl-[TIRTRGAIIQ-T-LGPIQPTR]
pH 6.5, 37°C
TURNOVER NUMBER [1/s]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
12
3-O-(alpha-D-mannosyl)-L-threonyl-[PKRVRRQIHA-T-PTPVTAIGPP]
pH 6.5, 37°C
16
3-O-(alpha-D-mannosyl)-L-threonyl-[TIRTRGAIIQ-T-LGPIQPTR]
pH 6.5, 37°C
1
3-O-(alpha-D-mannosyl)-L-threonyl-[IQEPPSRIVP-T-PTSPAIAPPT]
pH 6.5, 37°C
13
3-O-(alpha-D-mannosyl)-L-threonyl-[PKRVRRQIHA-T-PTPVTAIGPP]
pH 6.5, 37°C
32
3-O-(alpha-D-mannosyl)-L-threonyl-[TIRTRGAIIQ-T-LGPIQPTR]
pH 6.5, 37°C
kcat/KM VALUE [1/mMs-1]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
5.5
3-O-(alpha-D-mannosyl)-L-threonyl-[PKRVRRQIHA-T-PTPVTAIGPP]
pH 6.5, 37°C
20
3-O-(alpha-D-mannosyl)-L-threonyl-[TIRTRGAIIQ-T-LGPIQPTR]
pH 6.5, 37°C
10
3-O-(alpha-D-mannosyl)-L-threonyl-[IQEPPSRIVP-T-PTSPAIAPPT]
pH 6.5, 37°C
10
3-O-(alpha-D-mannosyl)-L-threonyl-[PKRVRRQIHA-T-PTPVTAIGPP]
pH 6.5, 37°C
12
3-O-(alpha-D-mannosyl)-L-threonyl-[TIRTRGAIIQ-T-LGPIQPTR]
pH 6.5, 37°C
ORGANISM
COMMENTARY
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
SOURCE
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY
GeneOntology No.
LITERATURE
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
physiological function
physiological function
enzyme catalyzes the first step toward the functional matriglycan structure on alpha-dystroglycan
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
physiological function
enzyme catalyzes the first step toward the functional matriglycan structure on alpha-dystroglycan
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable).
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). PMGT2_HUMAN
580
0
66615
Swiss-Prot
Secretory Pathway (Reliability: 1)
PDB
SCOP
CATH
UNIPROT
ORGANISM
APPLICATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
medicine
mutations in GTDC2, beta-1,3-N-acetylgalactosaminyltransferase 2B3GALNT2, and kinase SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Ogawa, M.; Nakamura, N.; Nakayama, Y.; Kurosaka, A.; Manya, H.; Kanagawa, M.; Endo, T.; Furukawa, K.; Okajima, T.
GTDC2 modifies O-mannosylated ?-dystroglycan in the endoplasmic reticulum to generate N-acetyl glucosamine epitopes reactive with CTD110.6 antibody
Biochem. Biophys. Res. Commun.
440
88-93
2013
Homo sapiens
Yoshida-Moriguchi, T.; Willer, T.; Anderson, M.E.; Venzke, D.; Whyte, T.; Muntoni, F.; Lee, H.; Nelson, S.F.; Yu, L.; Campbell, K.P.
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function
Science
341
896-899
2013
Homo sapiens, Homo sapiens (Q8NAT1)
Halmo, S.; Singh, D.; Patel, S.; Wang, S.; Edlin, M.; Boons, G.; Moremen, K.; Live, D.; Wells, L.
Protein O-linked mannose beta-1,4-N-acetylglucosaminyltransferase 2 (POMGNT2) is a gatekeeper enzyme for functional glycosylation of alpha-dystroglycan
J. Biol. Chem.
292
2101-2109
2017
Homo sapiens (Q8NAT1), Homo sapiens (Q8WZA1)
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