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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Methylmalonyl-CoA mutase, mitochondrial
Summary
- UniProt ID
- P22033
- Gene Symbol
-
- MMUT
- MUT
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- P22033
- PubChem
- P22033
- SwissLipids
- The Human Metabolome Database
- HMDBP00257
- The O-GlcNAc Database
- P22033
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Cobalamin
- Cytoplasm
- Direct protein sequencing
- Disease variant
- Isomerase
- Metal-binding
- Mitochondrion
- Phosphoprotein
- Reference proteome
- Transit peptide
- Gene Ontology (GO)
| GO Term |
|---|
| cytoplasm |
| mitochondrion |
| mitochondrial matrix |
Sequence
MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLIWHTPEGISIKPLYSKRDTMDLPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESNKFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLEKMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMKIIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDEFAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTEQDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPKVADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARIDSGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTECAASGDGNILALAVDASRARCTVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSAIKRVHKFMEREGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDIGPLFQTPREVAQQAVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSNVFGPGTRIPKAAVQVLDDIEKCLEKKQQSV
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 672 |
|
|||
| 673 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Cobalamin (Cbl) metabolism | Homo sapiens |
| Defective MMAA causes MMA, cblA type | Homo sapiens |
| Defective MUT causes MMAM | Homo sapiens |
| Propionyl-CoA 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: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 | |
| DOID:0060740 | methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
