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Details on Person UniProt:Q6NVY1 HIBCH
| Class:Id | ReferenceGeneProduct:70871 |
|---|---|
| _chainChangeLog | transit peptide:1-32 added on Sat February 7 2015;chain:33-386 added on Sat February 7 2015 |
| _displayName | UniProt:Q6NVY1 HIBCH |
| _timestamp | 2024-11-03 19:46:07 |
| chain | transit peptide:1-32 chain:33-386 |
| checksum | 11B0632ED1DF2FFA |
| comment | FUNCTION Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA.CATALYTIC ACTIVITY 3-hydroxy-2-methylpropanoyl-CoA + H2O = 3-hydroxy-2-methylpropanoate + CoA + H(+)PATHWAY Amino-acid degradation; L-valine degradation.SUBCELLULAR LOCATION Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the enoyl-CoA hydratase/isomerase family. |
| description | recommendedName: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial ecNumber: 3.1.2.4 alternativeName: 3-hydroxyisobutyryl-coenzyme A hydrolase shortName: HIB-CoA hydrolase shortName: HIBYL-CoA-H |
| geneName | HIBCH |
| identifier | Q6NVY1 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Branched-chain amino acid catabolism Disease variant Hydrolase Mitochondrion Phosphoprotein Proteomics identification Reference proteome Transit peptide |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | HIBCH |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8999550] ENSEMBL:ENSG00000198130 HIBCH [Homo sapiens] |
| secondaryIdentifier | HIBCH_HUMAN D3DPI4 Q53GA8 Q53GF2 Q53RF7 Q53TC6 Q92931 Q9BS94 |
| sequenceLength | 386 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:231922] UniProt:Q6NVY1-2 HIBCH [Homo sapiens] [ReferenceIsoform:408350] UniProt:Q6NVY1-1 HIBCH [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:70872] HIBCH [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9916912] C163SF HIBCH [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9916913] G317E HIBCH [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9916914] K377* HIBCH [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9916918] Y122C HIBCH [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9916919] G345S HIBCH [mitochondrial matrix] [Homo sapiens] |
| (referenceSequence) | [NonsenseMutation:9916911] Nonsense mutation at L-lysine 377 [ReplacedResidue:9916915] L-tyrosine 122 replaced with L-cysteine [ReplacedResidue:9916917] glycine 317 replaced with L-glutamine [ReplacedResidue:9916920] L-cysteine 163 replaced with L-phenylalanine [ReplacedResidue:9916921] L-serine residue 345 replaced with glycine removal |
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No pathways have been reviewed or authored by UniProt:Q6NVY1 HIBCH (70871)
