[Term]
id: PR:000060816
name: N-acetylgalactosamine-6-sulfatase sequence variant I113F, signal peptide removed form (human)
def: "An N-acetylgalactosamine-6-sulfatase (human) that has a Phe residue at the position equivalent to Ile-113 of the amino acid sequence represented by UniProtKB:P34059 and that has had the signal peptide removed. UniProtKB:P34059, 27-522, Ile-113, CHEBI:29997." [PRO:DNx, Reactome:R-HSA-2245331]
comment: Category=organism-modification.
synonym: "hGALNS/var:I113F/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "GALNS I113F" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-2245331]
synonym: "UniProtKB:P34059, 27-522, Ile-113, CHEBI:29997" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-2245331 "PR:000060816 located_in GO:0043202"
is_a: PR:P34059 ! N-acetylgalactosamine-6-sulfatase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens