Version 5.4
Homo sapiens Protein: MCEE
Summary
InnateDB Protein IDBP-55873.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MCEE
Protein Name methylmalonyl CoA epimerase
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000244217
InnateDB Gene IDBG-55871 (MCEE)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Mitochondrion {ECO:0000305}.
Disease Associations Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:251120]: 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. {ECO:0000269PubMed:16752391}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004493 methylmalonyl-CoA epimerase activity
GO:0046872 metal ion binding
Biological Process
GO:0006635 fatty acid beta-oxidation
GO:0019626 short-chain fatty acid catabolic process
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
GO:0046491 L-methylmalonyl-CoA metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
Protein Structure and Domains
PDB ID
InterPro IPR004360 Glyoxalase/fosfomycin resistance/dioxygenase domain
IPR017515 Methylmalonyl-CoA epimerase
IPR029068 Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase
PFAM PF00903
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96PE7
PhosphoSite PhosphoSite-Q96PE7
TrEMBL F5GZ54
UniProt Splice Variant
Entrez Gene 84693
UniGene Hs.691217
RefSeq NP_115990
HUGO HGNC:16732
OMIM 608419
CCDS CCDS1915
HPRD 12229
IMGT
EMBL AC007881 AF364547 BC020825 CH471053
GenPept AAH20825 AAK52052 AAY14749 EAW99778

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca