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MIRAGE
methylmalonyl-CoA mutase
Summary
- Gene Symbol
-
- MMUT
- Aliases
-
- MCM
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Cobalamin
- Cytoplasm
- Direct protein sequencing
- Disease variant
- Isomerase
- Metal-binding
- Mitochondrion
- Phosphoprotein
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| P22033 |
|
| B2R6K1 |
|
| A0A024RD82 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| post-embryonic development | ||
| propionate metabolic process, methylmalonyl pathway | ||
| positive regulation of GTPase activity | ||
| homocysteine metabolic process | ||
| succinyl-CoA biosynthetic process |
GO Hierarchy
biological process
metabolic process [inference]
nitrogen compound metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
organonitrogen compound metabolic process [inference]
biosynthetic process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
aromatic compound biosynthetic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
cellular biosynthetic process [inference]
heterocycle metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
heterocycle biosynthetic process [inference]
primary metabolic process [inference]
small molecule metabolic process [inference]
organic substance metabolic process [inference]
organophosphate metabolic process [inference]
organic cyclic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
purine-containing compound metabolic process [inference]
organonitrogen compound metabolic process [inference]
organic substance biosynthetic process [inference]
cellular process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
aromatic compound biosynthetic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
cellular biosynthetic process [inference]
heterocycle metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
heterocycle biosynthetic process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoplasm | ||
| cytoplasm | ||
| mitochondrion | ||
| mitochondrion | ||
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cobalamin binding | ||
| cobalamin binding | ||
| identical protein binding | ||
| identical protein binding | ||
| protein homodimerization activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- transporter
- Functional Category
-
- I: Lipid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| Golgi vesicle docking |
| transcytosis |
| vesicle fusion with Golgi apparatus |
| InterPro |
|---|
| Armadillo-like helical |
| Armadillo-type fold |
| Vesicle tethering protein Uso1/P115-like, head domain |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060740 | methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000083 | Renal insufficiency |
| HP:0000124 | Renal tubular dysfunction |
| HP:0000648 | Optic atrophy |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001259 | Coma |
| HP:0001260 | Dysarthria |
| Disease ID | Disease Name |
|---|---|
| OMIM:251000 |
|
| ORPHA:79312 |
|
| ORPHA:289916 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP005084
- Gene Name
- methylmalonyl CoA mutase
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 4594 | Xenbase:XB-GENE-6486923 | ||
| 17850 | ZFIN:ZDB-GENE-010430-3 | MOUSE21772 | |
| 280871 | BOVIN18631 | ||
| 399535 | PIGXX31707 | ||
| 463198 | PANTR38344 | ||
| 474930 | CANLF02829 | ||
| 569581 | DANRE19316 | ||
| 688517 | RATNO42684 | ||
| 706189 | MACMU33569 | ||
| 100012986 | MONDO13600 |
