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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:539 | ophthalmoplegia | |
| DOID:540 | strabismus | |
| DOID:543 | dystonia | |
| DOID:5672 | large intestine cancer | |
| DOID:6419 | tetralogy of Fallot | |
| DOID:655 | inherited metabolic disorder | |
| DOID:8398 | osteoarthritis | |
| DOID:848 | arthritis | |
| DOID:9256 | colorectal cancer | |
| DOID:9306 | mechanical strabismus |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001636 | Tetralogy of Fallot |
| HP:0001942 | Metabolic acidosis |
| HP:0002013 | Vomiting |
| HP:0002078 | Truncal ataxia |
| HP:0002093 | Respiratory insufficiency |
| HP:0002119 | Ventriculomegaly |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0002344 | Progressive neurologic deterioration |
| HP:0002352 | Leukoencephalopathy |
| HP:0002360 | Sleep abnormality |
| 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 |
