[Term]
id: PR:000061129
name: xylosyl- and glucuronyltransferase LARGE1 sequence variant E509K (human)
def: "A xylosyl- and glucuronyltransferase LARGE1 (human) that has a Lys residue at the position equivalent to Glu-509 of the amino acid sequence represented by UniProtKB:O95461-1. Example: UniProtKB:O95461-1, Glu-509, CHEBI:29967." [PRO:DNx, Reactome:R-HSA-6785678]
comment: Category=organism-sequence.
synonym: "hLARGE1/var:E509K" EXACT PRO-short-label [PRO:DNx]
synonym: "LARGE E509K" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-6785678]
synonym: "UniProtKB:O95461, Glu-509, CHEBI:29967" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:O95461-1, Glu-509, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-6785678 "PR:000061129 located_in GO:0000139"
is_a: PR:O95461 ! xylosyl- and glucuronyltransferase LARGE1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens