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MIRAGE
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
Summary
- Gene Symbol
-
- HADHB
- Aliases
-
- MTPB
- mitochondrial trifunctional protein, beta subunit
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Acyltransferase
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Endoplasmic reticulum
- Fatty acid metabolism
- Mitochondrion inner membrane
- Mitochondrion outer membrane
- Proteomics identification
- Reference proteome
- Transit peptide
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| fatty acid beta-oxidation | ||
| fatty acid beta-oxidation | ||
| fatty acid beta-oxidation | ||
| gene expression | ||
| cellular response to lipopolysaccharide |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleoplasm | ||
| mitochondrion | ||
| mitochondrion | ||
| mitochondrion | ||
| mitochondrial envelope |
| GO Term | Evidence Code | PMID |
|---|---|---|
| RNA binding | ||
| 3-hydroxyacyl-CoA dehydrogenase activity | ||
| acetyl-CoA C-acetyltransferase activity | ||
| acetyl-CoA C-acyltransferase activity | ||
| enoyl-CoA hydratase activity |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Thiolase
- Functional Category
-
- I: Lipid transport and metabolism
- T: Signal transduction mechanisms
- V: Defense mechanisms
| Gene Ontology |
|---|
| acyltransferase activity, transferring groups other than amino-acyl groups |
| fatty acid beta-oxidation |
| transferase activity |
| InterPro |
|---|
| Thiolase, C-terminal |
| Thiolase, N-terminal |
| Thiolase, active site |
| Thiolase, acyl-enzyme intermediate active site |
| Thiolase, conserved site |
| Thiolase-like |
| Thiolase |
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:0060999 | mitochondrial trifunctional protein deficiency 2 | |
| DOID:700 | mitochondrial metabolism disease |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000829 | Hypoparathyroidism |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001259 | Coma |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| Disease ID | Disease Name |
|---|---|
| OMIM:620300 |
|
| ORPHA:746 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP001640
- Gene Name
- hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 3032 | Xenbase:XB-GENE-1009673 | ||
| 171155 | Xenbase:XB-GENE-1009673 | RATNO35553 | |
| 231086 | MOUSE45843 | ||
| 281811 | BOVIN02835 | ||
| 336606 | DANRE20284 | ||
| 397017 | PIGXX22422 | ||
| 459080 | PANTR27215 | ||
| 481043 | CANLF04955 | ||
| 607926 | CANLF04955 | ||
| 698025 | MACMU07749 |
