[Term]
id: PR:000061211
name: protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 sequence variant S550N (human)
def: "A protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (human) that has an Asn residue at the position equivalent to Ser-550 of the amino acid sequence represented by UniProtKB:Q8WZA1-1. Example: UniProtKB:Q8WZA1-1, Ser-550, CHEBI:50347." [PRO:DNx, Reactome:R-HSA-5617094]
comment: Category=organism-sequence.
synonym: "hPOMGNT1/var:S550N" EXACT PRO-short-label [PRO:DNx]
synonym: "POMGNT1 S550N" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5617094]
synonym: "UniProtKB:Q8WZA1, Ser-550, CHEBI:50347" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q8WZA1-1, Ser-550, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5617094 "PR:000061211 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