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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|
| propionate metabolic process, methylmalonyl pathway | ||
| positive regulation of GTPase activity | ||
| post-embryonic development | ||
| 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 Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| methylmalonyl-CoA mutase activity | ||
| protein homodimerization activity | ||
| GTPase activity | ||
| cobalamin binding | ||
| metal ion binding |
GO Hierarchy
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:768 | retinoblastoma | |
| DOID:0014667 | disease of metabolism | |
| DOID:0040085 | bacterial sepsis | |
| DOID:0050387 | nonpapillary renal cell carcinoma | |
| DOID:0050590 | severe congenital neutropenia | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0050818 | transcobalamin II deficiency | |
| DOID:0050819 | obsolete Matthew-Wood syndrome | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0050902 | medulloblastoma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002912 | Methylmalonic acidemia |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0004911 | Episodic metabolic acidosis |
| HP:0005979 | Metabolic ketoacidosis |
| HP:0011463 | Childhood onset |
| HP:0011695 | Cerebellar hemorrhage |
| HP:0011968 | Feeding difficulties |
| Disease ID | Disease Name |
|---|---|
| ORPHA:79312 |
|
| ORPHA:289916 |
|
| OMIM:251000 |
|
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 |
|---|---|---|---|
| 175503 | WB:WBGene00014202 | ||
| 103184982 | CALMI31121 | ||
| 102348247 | LATCH10053 | ||
| 569581 | ZFIN:ZDB-GENE-010430-3 | DANRE19316 | |
| 103027932 | ASTMX14113 | ||
| 108258051 | ICTPU20404 | ||
| 113569416 | ELEEL05950 | ||
| 115174467 | SALTR52971 | ||
| 101161936 | ORYLA11366 | ||
| 115574289 | SPAAU61159 |
