[Term]
id: PR:000060792
name: N-acetylgalactosamine-6-sulfatase sequence variant G301C, signal peptide removed form (human)
def: "An N-acetylgalactosamine-6-sulfatase (human) that has a Cys residue at the position equivalent to Gly-301 of the amino acid sequence represented by UniProtKB:P34059 and that has had the signal peptide removed. UniProtKB:P34059, 27-522, Gly-301, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-2245324]
comment: Category=organism-modification.
synonym: "hGALNS/var:G301C/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "GALNS G301C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-2245324]
synonym: "UniProtKB:P34059, 27-522, Gly-301, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-2245324 "PR:000060792 located_in GO:0043202"
is_a: PR:P34059 ! N-acetylgalactosamine-6-sulfatase (human)
relationship: lacks_part SO:0000418 ! signal_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens