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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
Summary
- UniProt ID
- Q6NVY1
- Gene Symbol
-
- HIBCH
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q6NVY1
- PubChem
- Q6NVY1
- The Human Metabolome Database
- HMDBP04709
- The O-GlcNAc Database
- Q6NVY1
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Branched-chain amino acid catabolism
- Disease variant
- Hydrolase
- Mitochondrion
- Phosphoprotein
- Reference proteome
- Transit peptide
- Gene Ontology (GO)
| GO Term |
|---|
| branched-chain amino acid catabolic process |
| valine catabolic process |
| GO Term |
|---|
| mitochondrion |
| mitochondrial matrix |
| GO Term |
|---|
| 3-hydroxyisobutyryl-CoA hydrolase activity |
| hydrolase activity |
Sequence
MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Branched-chain amino acid catabolism | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| 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 |
