[Term]
id: PR:000085959
name: branched-chain alpha-ketoacid dehydrogenase kinase sequence variant L389P, transit peptide removed form (human)
def: "A branched-chain alpha-ketoacid dehydrogenase kinase (human) that has a Pro residue at the position equivalent to Leu-389 of the amino acid sequence represented by UniProtKB:O14874-1 and that has had the transit peptide removed. Example: UniProtKB:O14874-1, 31-412, Leu-389, CHEBI:50342." [PRO:DNx, Reactome:R-HSA-9912461]
comment: Category=organism-modification.
synonym: "hBCKDK/var:L389P/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "L389P BCKDK" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9912461]
synonym: "UniProtKB:O14874, 31-412, Leu-389, CHEBI:50342" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:O14874-1, 31-412, Leu-389, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9912461 "PR:000085959 located_in GO:0005759"
is_a: PR:O14874 ! branched-chain alpha-ketoacid dehydrogenase kinase (human)
relationship: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens