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Literature summary extracted from

  • 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 (2013), Science, 341, 896-899.
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
2.4.1.312 medicine mutations in GTDC2, beta-1,3-N-acetylgalactosaminyltransferase 2B3GALNT2, and kinase SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy Homo sapiens
2.4.1.313 medicine mutations in GTDC2, beta-1,3-N-acetylgalactosaminyltransferase 2B3GALNT2, and kinase SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.1.183 expressed in HEK-293 cells Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.4.1.312 endoplasmic reticulum
-
 Homo sapiens 5783
-
2.4.1.313 endoplasmic reticulum
-
 Homo sapiens 5783
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.4.1.312 UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[protein] Homo sapiens
-
 UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]
-
 ?
2.4.1.313 UDP-N-acetyl-alpha-D-galactosamine + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein] Homo sapiens
-
 UDP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.4.1.312 Homo sapiens
-
-
-
2.4.1.312 Homo sapiens Q8NAT1
-
-
2.4.1.313 Homo sapiens
-
-
-
2.4.1.313 Homo sapiens Q8NCR0
-
-
2.7.1.183 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.4.1.312 HEK-293 cell
-
 Homo sapiens
-
2.4.1.313 HEK-293 cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.4.1.312 additional information GTDC2 possesses a protein O-mannose beta-1,4-Nacetylglucosaminyltransferase activity. No substrate: UDP-GalNAc Homo sapiens ?
-
 ?
2.4.1.312 UDP-N-acetyl-alpha-D-glucosamine + 3-O-(alpha-D-mannosyl)-L-threonyl-[protein]
-
 Homo sapiens UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]
-
 ?
2.4.1.312 UDP-N-acetyl-alpha-D-glucosamine + 3-O-(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 Homo sapiens UDP + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]
-
 ?
2.4.1.313 UDP-N-acetyl-alpha-D-galactosamine + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]
-
 Homo sapiens UDP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]
-
 ?
2.7.1.183 ATP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl/L-seryl-[protein]
-
 Homo sapiens ADP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-6-O-phosphono-alpha-D-mannosyl]-L-threonyl/L-seryl-[protein]
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.4.1.312 GTDC2 gene name, glycosyltransferase-like domain containing 2 Homo sapiens
2.4.1.312 POMGNT2
-
 Homo sapiens
2.4.1.312 protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2
-
 Homo sapiens
2.4.1.312 protein O-mannose beta1,4-N-acetylglucosaminyltransferase
-
 Homo sapiens
2.4.1.313 B3GALNT2
-
 Homo sapiens
2.4.1.313 beta 1,3-N-acetylgalactosaminyltransferase2
-
 Homo sapiens
2.4.1.313 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
-
 Homo sapiens
2.7.1.183 O-mannose kinase
-
 Homo sapiens
2.7.1.183 SGK196
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.4.1.312 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 Homo sapiens
2.4.1.313 physiological function beta-1,3-N-acetylgalactosaminyltransferase2 B3GALNT2 and protein O-mannose beta-1,4-Nacetylglucosaminyltransferase 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 Homo sapiens