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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:0090079 | hypogonadotropic hypogonadism 17 with or without anosmia | |
| DOID:0090080 | hypogonadotropic hypogonadism 16 with or without anosmia | |
| DOID:0090081 | hypogonadotropic hypogonadism 22 with or without anosmia | |
| DOID:0090082 | hypogonadotropic hypogonadism 20 with or without anosmia | |
| DOID:0090083 | hypogonadotropic hypogonadism 2 with or without anosmia | |
| DOID:0090084 | hypogonadotropic hypogonadism 5 with or without anosmia | |
| DOID:0090085 | hypogonadotropic hypogonadism 9 with or without anosmia | |
| DOID:0090086 | hypogonadotropic hypogonadism 6 with or without anosmia | |
| DOID:0090087 | hypogonadotropic hypogonadism 14 with or without anosmia | |
| DOID:0090089 | hypogonadotropic hypogonadism 10 with or without anosmia |
