[Term]
id: PR:000085895
name: lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial sequence variant S399C, transit peptide removed lipoylated 1 (human)
def: "A lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial (human) that has a Cys residue at the position equivalent to Ser-399 of the amino acid sequence represented by UniProtKB:P11182, that has had the transit peptide removed, and that has been lipoylated on the residue at the position equivalent to Lys-105. UniProtKB:P11182, 62-482, Lys-105, MOD:00127|Ser-399, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-9865036]
comment: Category=organism-modification.
synonym: "hDBT/var:S399C/TransPep-/Lipo:1" EXACT PRO-short-label [PRO:DNx]
synonym: "S399C Lipo-K105-DBT" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9865036]
synonym: "UniProtKB:P11182, 62-482, Lys-105, MOD:00127|Ser-399, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9865036 "PR:000085895 located_in GO:0005759"
is_a: PR:P11182 ! lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial (human)
relationship: has_part MOD:00127 ! N6-lipoyl-L-lysine
relationship: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens