[Term]
id: PR:000085797
name: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial sequence variant G317Q, transit peptide removed form (human)
def: "A 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial (human) that has a Gln residue at the position equivalent to Gly-317 of the amino acid sequence represented by UniProtKB:Q6NVY1-1 and that has had the transit peptide removed. Example: UniProtKB:Q6NVY1-1, 33-386, Gly-317, CHEBI:30011." [PRO:DNx, Reactome:R-HSA-9916913]
comment: Category=organism-modification.
synonym: "hHIBCH/var:G317Q/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "G317E HIBCH" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9916913]
synonym: "UniProtKB:Q6NVY1, 33-386, Gly-317, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q6NVY1-1, 33-386, Gly-317, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9916913 "PR:000085797 located_in GO:0005759"
is_a: PR:Q6NVY1 ! 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial (human)
relationship: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens