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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:0060740 | methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| DOID:0060741 | methylmalonic acidemia due to transcobalamin receptor defect | |
| DOID:0060742 | methylmalonic acidemia cblA type | |
| DOID:0060743 | methylmalonic acidemia cblB type | |
| DOID:0060862 | mal de Meleda | |
| DOID:0060870 | isolated growth hormone deficiency | |
| DOID:0060872 | isolated growth hormone deficiency type II | |
| DOID:0060873 | isolated growth hormone deficiency type IA | |
| DOID:0060874 | isolated growth hormone deficiency type IB | |
| DOID:0060875 | isolated growth hormone deficiency type III |
- 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 |
|---|---|
| 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 |
