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Literature summary for 2.4.1.312 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
Search for more literature for 2.4.1.312

Application

Application Comment Organism
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

Localization

Localization Comment Organism GeneOntology No. Textmining
endoplasmic reticulum
-
 Homo sapiens 5783
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
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]
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Homo sapiens Q8NAT1
-
-

Source Tissue

Source Tissue Comment Organism Textmining
HEK-293 cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information GTDC2 possesses a protein O-mannose beta-1,4-Nacetylglucosaminyltransferase activity. No substrate: UDP-GalNAc Homo sapiens ?
-
 ?
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]
-
 ?
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]
-
 ?

Synonyms

Synonyms Comment Organism
GTDC2 gene name, glycosyltransferase-like domain containing 2 Homo sapiens
POMGNT2
-
 Homo sapiens
protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2
-
 Homo sapiens
protein O-mannose beta1,4-N-acetylglucosaminyltransferase
-
 Homo sapiens

General Information

General Information Comment Organism
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