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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
3-hydroxyisobutyryl-CoA hydrolase
Summary
- Gene Symbol
-
- HIBCH
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Branched-chain amino acid catabolism
- Disease variant
- Hydrolase
- Mitochondrion
- Phosphoprotein
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| Q6NVY1 |
|
| A0A140VJL0 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| valine catabolic process | ||
| branched-chain amino acid catabolic process |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrial matrix |
|
|
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| hydrolase activity | ||
| 3-hydroxyisobutyryl-CoA hydrolase activity |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050562 | West syndrome | |
| DOID:0050835 | generalized dystonia | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:10908 | hydrocephalus | |
| DOID:11383 | cryptorchidism | |
| DOID:11771 | spontaneous ocular nystagmus | |
| DOID:11832 | visual epilepsy | |
| DOID:1289 | neurodegenerative disease | |
| DOID:13174 | dissociated nystagmus |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001254 | Lethargy |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001298 | Encephalopathy |
| HP:0001310 | Dysmetria |
| HP:0001332 | Dystonia |
| HP:0001336 | Myoclonus |
| HP:0001347 | Hyperreflexia |
| HP:0001508 | Failure to thrive |
| Disease ID | Disease Name |
|---|---|
| ORPHA:88639 |
|
| OMIM:250620 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP004216
- Gene Name
- 3-hydroxyisobutyryl-CoA hydrolase
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 175766 | WB:WBGene00017301 | ||
| 41869 | FB:FBgn0038326 | ||
| 103176535 | CALMI10683 | ||
| 102350181 | LATCH13280 | ||
| 798364 | ZFIN:ZDB-GENE-050327-29 | DANRE45273 | |
| 108266808 | ICTPU31534 | ||
| 113581354 | ELEEL18680 | ||
| 115160656 | SALTR15520 | ||
| 115533062 | GADMO29359 | ||
| 101159781 | ORYLA09685 |
