[Term]
id: PR:000060372
name: heparan-alpha-glucosaminide N-acetyltransferase sequence variant W344C (human)
def: "A heparan-alpha-glucosaminide N-acetyltransferase (human) that has a Cys residue at the position equivalent to Trp-344 of the amino acid sequence represented by UniProtKB:Q68CP4-1. Example: UniProtKB:Q68CP4-1, Trp-344, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-2245233]
comment: Category=organism-sequence.
synonym: "hHGSNAT/var:W344C" EXACT PRO-short-label [PRO:DNx]
synonym: "HGSNAT R344C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-2245233]
synonym: "UniProtKB:Q68CP4, Trp-344, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q68CP4-1, Trp-344, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-2245233 "PR:000060372 located_in GO:0005765"
is_a: PR:Q68CP4 ! heparan-alpha-glucosaminide N-acetyltransferase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens