Protein basic information
| LiverAtlas Protein ID |
HuLPr26947 |
|
Uniprot ID |
|
|
Uniprot Acc |
Q96PE7;Q53TP1;Q8WW63; |
|
Protein name |
Methylmalonyl-CoA epimerase, mitochondrial |
|
Comment |
CATALYTIC ACTIVITY:(R)-methylmalonyl-CoA = (S)-methylmalonyl-CoA.||SUBCELLULAR LOCATION:Mitochondrion (Probable).||DISEASE:Defects in MCEE are a cause of methylmalonyl-CoA epimerase deficiency (MCEE deficiency) [MIM:251120]; also known as methylmalonyl-CoA racemase deficiency or methylmalonic aciduria type 3. MCEE deficiency is an autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma.||SIMILARITY:Belongs to the glyoxalase I family. |
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Subcellular localization |
Mitochondrion(Probable). |
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Gene name |
|
|
Protein sequence
|
MARVLKAAAANAVGLFSRLQAPIPTVRASSTSQPLDQVTG SVWNLGRLNHVAIAVPDLEKAAAFYKNILGAQVSEAVPL PEHGVSVVFVNLGNTKMELLHPLGRDSPIAGFLQKNKAG GMHHICIEVDNINAAVMDLKKKKIRSLSEEVKIGAHGKP VIFLHPKDCGGVLVELEQA |
|
Database cross reference |
RefSeq Protein accession:NP_115990
|
Liver relevance
|
HLPP validation |
Yes/No |
Yes |
|
Project name |
Chinese Liver;French Liver;Human Liver Organelles; |
Ontology annotation
| GO-C |
GO:0005759;C:mitochondrial matrix;TAS:Reactome. |
|
GO-F |
GO:0004493;F:methylmalonyl-CoA epimerase activity;IDA:UniProtKB. |
|
GO-P |
GO:0006635;P:fatty acid beta-oxidation;TAS:Reactome. GO:0046491;P:L-methylmalonyl-CoA metabolic process;IDA:UniProtKB. |
Post-translational modification
| LiverAtlas Protein ID |
MOD type1 |
Position1 |
Residue1 |
Source name1 |
source ID1 |
Source method |
HLPP validation1 (Yes/no) |
Quality score |
|
HuLPr26947 |
ACETYLATION |
114 |
K |
PhosphoSitePlus |
LTP |
N |
 
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Pathway
| Pathway name | |
| Pathway name | |
| Pathway name |
