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Identification
HMDB Protein ID HMDBP00256
Secondary Accession Numbers
  • 5488
  • HMDBP03172
Name Methylmalonyl-CoA epimerase, mitochondrial
Synonyms
  1. DL-methylmalonyl-CoA racemase
Gene Name MCEE
Protein Type Enzyme
Biological Properties
General Function Amino acid transport and metabolism
Specific Function Not Available
Pathways
  • 2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency
  • 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
  • 3-hydroxyisobutyric acid dehydrogenase deficiency
  • 3-hydroxyisobutyric aciduria
  • 3-Methylcrotonyl Coa Carboxylase Deficiency Type I
  • 3-Methylglutaconic Aciduria Type I
  • 3-Methylglutaconic Aciduria Type III
  • 3-Methylglutaconic Aciduria Type IV
  • Beta-Ketothiolase Deficiency
  • Glyoxylate and dicarboxylate metabolism
  • Isobutyryl-coa dehydrogenase deficiency
  • Isovaleric acidemia
  • Isovaleric Aciduria
  • Malonic Aciduria
  • Malonyl-coa decarboxylase deficiency
  • Maple Syrup Urine Disease
  • Methylmalonate Semialdehyde Dehydrogenase Deficiency
  • Methylmalonic Aciduria
  • Methylmalonic Aciduria Due to Cobalamin-Related Disorders
  • Propanoate Metabolism
  • Propanoate metabolism
  • Propionic Acidemia
  • Threonine and 2-Oxobutanoate Degradation
  • Valine, Leucine and Isoleucine Degradation
  • Valine, leucine and isoleucine degradation
Reactions
Methylmalonyl-CoA → S-Methylmalonyl-CoA details
(S)-ethylmalonyl-CoA → (2R)-Ethylmalonyl-CoA details
GO Classification
Biological Process
L-methylmalonyl-CoA metabolic process
short-chain fatty acid catabolic process
fatty acid beta-oxidation
Cellular Component
mitochondrial matrix
Molecular Function
methylmalonyl-CoA epimerase activity
Cellular Location
  1. Cytoplasm
  2. Mitochondrion (Probable)
Gene Properties
Chromosome Location 2
Locus 2p13.3
SNPs MCEE
Gene Sequence
>531 bp
ATGGCGCGGGTGCTGAAGGCTGCAGCCGCGAATGCCGTAGGGCTTTTTTCCAGACTTCAA
GCTCCCATTCCAACAGTAAGAGCTTCTTCCACATCACAGCCCTTGGATCAAGTGACAGGT
TCTGTGTGGAACCTGGGTCGACTCAACCATGTAGCCATAGCAGTGCCAGATTTGGAAAAG
GCTGCAGCATTTTATAAGAATATTCTGGGGGCCCAGGTAAGTGAAGCGGTCCCTCTTCCT
GAACATGGAGTATCTGTTGTTTTTGTCAACCTGGGAAATACCAAGATGGAACTGCTTCAT
CCATTGGGACGTGACAGTCCAATTGCAGGTTTTCTGCAGAAAAACAAGGCTGGAGGAATG
CATCACATCTGCATCGAGGTGGATAATATTAATGCAGCTGTGATGGATTTGAAAAAAAAG
AAGATCCGCAGTCTAAGTGAAGAGGTCAAAATAGGAGCACATGGAAAACCAGTGATTTTT
CTCCATCCTAAAGACTGTGGTGGAGTCCTTGTGGAACTGGAGCAAGCTTGA
Protein Properties
Number of Residues 176
Molecular Weight 18748.755
Theoretical pI 9.081
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Methylmalonyl-CoA epimerase, mitochondrial
MARVLKAAAANAVGLFSRLQAPIPTVRASSTSQPLDQVTGSVWNLGRLNHVAIAVPDLEK
AAAFYKNILGAQVSEAVPLPEHGVSVVFVNLGNTKMELLHPLGRDSPIAGFLQKNKAGGM
HHICIEVDNINAAVMDLKKKKIRSLSEEVKIGAHGKPVIFLHPKDCGGVLVELEQA
GenBank ID Protein 62822200
UniProtKB/Swiss-Prot ID Q96PE7
UniProtKB/Swiss-Prot Entry Name MCEE_HUMAN
PDB IDs
GenBank Gene ID AC007881
GeneCard ID MCEE
GenAtlas ID MCEE
HGNC ID HGNC:16732
References
General References
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  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16. [PubMed:19608861 ]
  4. Bobik TA, Rasche ME: Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome. J Biol Chem. 2001 Oct 5;276(40):37194-8. Epub 2001 Jul 31. [PubMed:11481338 ]
  5. Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M: A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat. 2006 Jul;27(7):640-3. [PubMed:16752391 ]