[Term]
id: PR:000085881
name: biotinidase sequence variant R79C, signal peptide removed form (human)
def: "A biotinidase (human) that has a Cys residue at the position equivalent to Arg-79 of the amino acid sequence represented by UniProtKB:P43251-1 and that has had the signal peptide removed. Example: UniProtKB:P43251-1, 42-543, Arg-79, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-3325545, Reactome:R-HSA-4225085]
comment: Category=organism-modification.
synonym: "hBTD/var:R79C/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "BTD R79C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3325545, Reactome:R-HSA-4225085]
synonym: "UniProtKB:P43251, 42-543, Arg-79, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P43251-1, 42-543, Arg-79, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3325545 "PR:000085881 located_in GO:0005576"
xref: Reactome:R-HSA-4225085 "PR:000085881 located_in GO:0005759"
is_a: PR:P43251 ! biotinidase (human)
relationship: lacks_part SO:0000418 ! signal_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens