[Term]
id: PR:000062370
name: heparan-alpha-glucosaminide N-acetyltransferase sequence variant G518F (human)
def: "A heparan-alpha-glucosaminide N-acetyltransferase (human) that has a Phe residue at the position equivalent to Gly-518 of the amino acid sequence represented by UniProtKB:Q68CP4-1. Example: UniProtKB:Q68CP4-1, Gly-518, CHEBI:29997." [PRO:DNx, Reactome:R-HSA-2245230]
comment: Category=organism-sequence.
synonym: "hHGSNAT/var:G518F" EXACT PRO-short-label [PRO:DNx]
synonym: "HGSNAT S518F" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-2245230]
synonym: "UniProtKB:Q68CP4, Gly-518, CHEBI:29997" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q68CP4-1, Gly-518, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-2245230 "PR:000062370 located_in GO:0005765"
is_a: PR:Q68CP4 ! heparan-alpha-glucosaminide N-acetyltransferase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens