[Term]
id: PR:000064082
name: cholesterol side-chain cleavage enzyme, mitochondrial sequence variant V415E, transit peptide removed form (human)
def: "A cholesterol side-chain cleavage enzyme, mitochondrial (human) that has a Glu residue at the position equivalent to Val-415 of the amino acid sequence represented by UniProtKB:P05108-1 and that has had the transit peptide removed. Example: UniProtKB:P05108-1, 40-521, Val-415, CHEBI:29972." [PRO:DNx, Reactome:R-HSA-5580238]
comment: Category=organism-modification.
synonym: "hCYP11A1/var:V415E/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "CYP11A1 V415E" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5580238]
synonym: "UniProtKB:P05108, 40-521, Val-415, CHEBI:29972" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P05108-1, 40-521, Val-415, CHEBI:29972" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5580238 "PR:000064082 located_in GO:0005759"
is_a: PR:P05108 ! cholesterol side-chain cleavage enzyme, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens