Gene/Proteome Database (LMPD)
LMPD ID
LMP005084
Gene ID
Species
Homo sapiens (Human)
Gene Name
methylmalonyl CoA mutase
Gene Symbol
Synonyms
MCM
Chromosome
6
Map Location
6p12.3
Summary
This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| methylmalonyl-CoA mutase, mitochondrial precursor | |
|---|---|
| Refseq ID | NP_000246 |
| Protein GI | 156105689 |
| UniProt ID | P22033 |
| mRNA ID | NM_000255 |
| Length | 750 |
| RefSeq Status | REVIEWED |
| MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLIWHTPEGISIKPLYSKRDTMDLPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESNKFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLEKMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMKIIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDEFAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTEQDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPKVADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARIDSGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTECAASGDGNILALAVDASRARCTVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSAIKRVHKFMEREGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDIGPLFQTPREVAQQAVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSNVFGPGTRIPKAAVQVLDDIEKCLEKKQQSV | |
| transit_peptide: 1..32 calculated_mol_wt: 3812 peptide sequence: MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRL mat_peptide: 33..750 product: methylmalonyl-CoA mutase, mitochondrial calculated_mol_wt: 79341 peptide sequence: LHQQQPLHPEWAALAKKQLKGKNPEDLIWHTPEGISIKPLYSKRDTMDLPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESNKFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLEKMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMKIIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDEFAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTEQDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPKVADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARIDSGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTECAASGDGNILALAVDASRARCTVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSAIKRVHKFMEREGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDIGPLFQTPREVAQQAVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSNVFGPGTRIPKAAVQVLDDIEKCLEKKQQSV | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0031419 | IEA:InterPro | F | cobalamin binding |
| GO:0046872 | IEA:InterPro | F | metal ion binding |
| GO:0004494 | IEA:InterPro | F | methylmalonyl-CoA mutase activity |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| hsa01200 | Carbon metabolism |
| hsa00630 | Glyoxylate and dicarboxylate metabolism |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_163862 | Cobalamin (Cbl, vitamin B12) transport and metabolism |
| REACT_993 | Propionyl-CoA catabolism |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR006158 | Cobalamin (vitamin B12)-binding domain |
| IPR016176 | Cobalamin (vitamin B12)-dependent enzyme, catalytic |
| IPR014348 | Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain |
| IPR006159 | Methylmalonyl-CoA mutase, C-terminal |
| IPR006098 | Methylmalonyl-CoA mutase, alpha chain, catalytic |
| IPR006099 | Methylmalonyl-CoA mutase, alpha/beta chain, catalytic |
UniProt Annotations
Entry Information
Identical and Related Proteins
Unique RefSeq proteins for LMP005084 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 156105689 | RefSeq | NP_000246 | 750 | methylmalonyl-CoA mutase, mitochondrial precursor |
Identical Sequences to LMP005084 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:156105689 | GenBank | EAX04329.1 | 750 | methylmalonyl Coenzyme A mutase, isoform CRA_a [Homo sapiens] |
| GI:156105689 | GenBank | EAX04330.1 | 750 | methylmalonyl Coenzyme A mutase, isoform CRA_a [Homo sapiens] |
| GI:156105689 | RefSeq | XP_005249200.1 | 750 | PREDICTED: methylmalonyl-CoA mutase, mitochondrial isoform X1 [Homo sapiens] |
| GI:156105689 | SwissProt | P22033.4 | 750 | RecName: Full=Methylmalonyl-CoA mutase, mitochondrial; Short=MCM; AltName: Full=Methylmalonyl-CoA isomerase; Flags: Precursor [Homo sapiens] |
Related Sequences to LMP005084 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:156105689 | DBBJ | BAF85257.1 | 750 | unnamed protein product [Homo sapiens] |
| GI:156105689 | GenBank | AAH16282.1 | 750 | Methylmalonyl Coenzyme A mutase [Homo sapiens] |
| GI:156105689 | GenBank | AAP36102.1 | 750 | methylmalonyl Coenzyme A mutase [Homo sapiens] |
| GI:156105689 | GenBank | AAX41966.1 | 750 | methylmalonyl Coenzyme A mutase [synthetic construct] |
| GI:156105689 | GenBank | AAX41967.1 | 750 | methylmalonyl Coenzyme A mutase [synthetic construct] |
| GI:156105689 | RefSeq | XP_009240218.1 | 750 | PREDICTED: methylmalonyl-CoA mutase, mitochondrial isoform X1 [Pongo abelii] |