[Term]
id: PR:000064225
name: protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 sequence variant P493R (human)
def: "A protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (human) that has an Arg residue at the position equivalent to Pro-493 of the amino acid sequence represented by UniProtKB:Q8WZA1-1. Example: UniProtKB:Q8WZA1-1, Pro-493, CHEBI:29952." [PRO:DNx, Reactome:R-HSA-5617048]
comment: Category=organism-sequence.
synonym: "hPOMGNT1/var:P493R" EXACT PRO-short-label [PRO:DNx]
synonym: "POMGNT1 P493R" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5617048]
synonym: "UniProtKB:Q8WZA1, Pro-493, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q8WZA1-1, Pro-493, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5617048 "PR:000064225 located_in GO:0000139"
is_a: PR:Q8WZA1 ! protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens