[Term]
id: PR:000061100
name: N-acetylglucosamine-6-sulfatase sequence variant S94I, signal peptide removed form (human)
def: "An N-acetylglucosamine-6-sulfatase (human) that has an Ile residue at the position equivalent to Ser-94 of the amino acid sequence represented by UniProtKB:P15586-1 and that has had the signal peptide removed. Example: UniProtKB:P15586-1, 37-552, Ser-94, CHEBI:30009." [PRO:DNx, Reactome:R-HSA-2245243]
comment: Category=organism-modification.
synonym: "hGNS/var:S94I/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "GNS S94I" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-2245243]
synonym: "UniProtKB:P15586, 37-552, Ser-94, CHEBI:30009" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P15586-1, 37-552, Ser-94, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-2245243 "PR:000061100 located_in GO:0043202"
is_a: PR:P15586 ! N-acetylglucosamine-6-sulfatase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens