[Term]
id: PR:000085945
name: enoyl-CoA hydratase, mitochondrial sequence variant R54H, transit peptide removed form (human)
def: "An enoyl-CoA hydratase, mitochondrial (human) that has a His residue at the position equivalent to Arg-54 of the amino acid sequence represented by UniProtKB:P30084 and that has had the transit peptide removed. UniProtKB:P30084, 28-290, Arg-54, CHEBI:29979." [PRO:DNx, Reactome:R-HSA-9916676]
comment: Category=organism-modification.
synonym: "hECHS1/var:R54H/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "R54H ECHS1" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9916676]
synonym: "UniProtKB:P30084, 28-290, Arg-54, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9916676 "PR:000085945 located_in GO:0005759"
is_a: PR:P30084 ! enoyl-CoA hydratase, mitochondrial (human)
relationship: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens