Gene/Proteome Database (LMPD)
LMPD ID
LMP005114
Gene ID
Species
Homo sapiens (Human)
Gene Name
methylmalonyl CoA epimerase
Gene Symbol
Synonyms
GLOD2
Alternate Names
methylmalonyl-CoA epimerase, mitochondrial; DL-methylmalonyl-CoA racemase; glyoxalase domain containing 2
Chromosome
2
Map Location
2p13.3
EC Number
5.1.99.1
Summary
The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| methylmalonyl-CoA epimerase, mitochondrial precursor | |
|---|---|
| Refseq ID | NP_115990 |
| Protein GI | 188035928 |
| UniProt ID | Q96PE7 |
| mRNA ID | NM_032601 |
| Length | 176 |
| RefSeq Status | REVIEWED |
| MARVLKAAAANAVGLFSRLQAPIPTVRASSTSQPLDQVTGSVWNLGRLNHVAIAVPDLEKAAAFYKNILGAQVSEAVPLPEHGVSVVFVNLGNTKMELLHPLGRDSPIAGFLQKNKAGGMHHICIEVDNINAAVMDLKKKKIRSLSEEVKIGAHGKPVIFLHPKDCGGVLVELEQA | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005759 | TAS:Reactome | C | mitochondrial matrix |
| GO:0046872 | IEA:UniProtKB-KW | F | metal ion binding |
| GO:0004493 | IDA:UniProtKB | F | methylmalonyl-CoA epimerase activity |
| GO:0046491 | IDA:UniProtKB | P | L-methylmalonyl-CoA metabolic process |
| GO:0044255 | TAS:Reactome | P | cellular lipid metabolic process |
| GO:0006635 | TAS:Reactome | P | fatty acid beta-oxidation |
| GO:0019626 | TAS:Reactome | P | short-chain fatty acid catabolic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| hsa01200 | Carbon metabolism |
| hsa00630 | Glyoxylate and dicarboxylate metabolism |
| hsa01100 | Metabolic pathways |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_993 | Propionyl-CoA catabolism |
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Catalytic Activity | (R)-methylmalonyl-CoA = (S)-methylmalonyl-CoA. |
| Disease | Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM |
| Similarity | Belongs to the glyoxalase I family. |
| Subcellular Location | Mitochondrion . |
Identical and Related Proteins
Unique RefSeq proteins for LMP005114 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 188035928 | RefSeq | NP_115990 | 176 | methylmalonyl-CoA epimerase, mitochondrial precursor |
Identical Sequences to LMP005114 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:188035928 | GenBank | AAK52052.1 | 176 | methylmalonyl-CoA epimerase [Homo sapiens] |
| GI:188035928 | GenBank | AAY14749.1 | 176 | unknown [Homo sapiens] |
| GI:188035928 | GenBank | EAW99778.1 | 176 | methylmalonyl CoA epimerase [Homo sapiens] |
| GI:188035928 | RefSeq | XP_004029438.1 | 176 | PREDICTED: methylmalonyl-CoA epimerase, mitochondrial [Gorilla gorilla gorilla] |
| GI:188035928 | SwissProt | Q96PE7.1 | 176 | RecName: Full=Methylmalonyl-CoA epimerase, mitochondrial; AltName: Full=DL-methylmalonyl-CoA racemase; Flags: Precursor [Homo sapiens] |
Related Sequences to LMP005114 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:188035928 | GenBank | AAH20825.1 | 176 | Methylmalonyl CoA epimerase [Homo sapiens] |
| GI:188035928 | GenBank | ABM82301.1 | 176 | methylmalonyl CoA epimerase [synthetic construct] |
| GI:188035928 | GenBank | ABM85479.1 | 176 | methylmalonyl CoA epimerase, partial [synthetic construct] |
| GI:188035928 | GenBank | AIC57371.1 | 176 | MCEE, partial [synthetic construct] |
| GI:188035928 | RefSeq | XP_515538.1 | 176 | PREDICTED: methylmalonyl-CoA epimerase, mitochondrial isoform X1 [Pan troglodytes] |
| GI:188035928 | RefSeq | XP_003808215.1 | 176 | PREDICTED: methylmalonyl-CoA epimerase, mitochondrial isoform X1 [Pan paniscus] |