Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MCEE Gene

Aliases for MCEE Gene

  • Methylmalonyl CoA Epimerase 2 3
  • Glyoxalase Domain Containing 2 2 3
  • DL-Methylmalonyl-CoA Racemase 3 4
  • Methylmalonyl-CoA Epimerase, Mitochondrial 3
  • EC 5.1.99.1 4
  • GLOD2 3

External Ids for MCEE Gene

Summaries for MCEE Gene

Entrez Gene Summary for MCEE Gene

  • 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]

GeneCards Summary for MCEE Gene

MCEE (Methylmalonyl CoA Epimerase) is a Protein Coding gene. Diseases associated with MCEE include methylmalonyl-coa epimerase deficiency and mcee-related methylmalonic acidemia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include methylmalonyl-CoA epimerase activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCEE Gene

Genomics for MCEE Gene

Genomic Location for MCEE Gene

Start:
71,109,676 bp from pter
End:
71,130,264 bp from pter
Size:
20,589 bases
Orientation:
Minus strand

Genomic View for MCEE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MCEE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCEE Gene

Regulatory Elements for MCEE Gene

Proteins for MCEE Gene

  • Protein details for MCEE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PE7-MCEE_HUMAN
    Recommended name:
    Methylmalonyl-CoA epimerase, mitochondrial
    Protein Accession:
    Q96PE7
    Secondary Accessions:
    • Q53TP1
    • Q8WW63

    Protein attributes for MCEE Gene

    Size:
    176 amino acids
    Molecular mass:
    18749 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MCEE Gene

neXtProt entry for MCEE Gene

Proteomics data for MCEE Gene at MOPED

Post-translational modifications for MCEE Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MCEE Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MCEE Gene

Domains for MCEE Gene

Suggested Antigen Peptide Sequences for MCEE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PE7

UniProtKB/Swiss-Prot:

MCEE_HUMAN
Family:
  • Belongs to the glyoxalase I family.:
    • Q96PE7
genes like me logo Genes that share domains with MCEE: view

No data available for Gene Families for MCEE Gene

Function for MCEE Gene

Molecular function for MCEE Gene

UniProtKB/Swiss-Prot CatalyticActivity: (R)-methylmalonyl-CoA = (S)-methylmalonyl-CoA

Enzyme Numbers (IUBMB) for MCEE Gene

Gene Ontology (GO) - Molecular Function for MCEE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004493 methylmalonyl-CoA epimerase activity IDA 11481338
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MCEE: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MCEE Gene

Localization for MCEE Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCEE Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCEE Gene COMPARTMENTS Subcellular localization image for MCEE gene
Compartment Confidence
mitochondrion 4
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MCEE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MCEE: view

Pathways for MCEE Gene

genes like me logo Genes that share pathways with MCEE: view

Gene Ontology (GO) - Biological Process for MCEE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation TAS --
GO:0019626 short-chain fatty acid catabolic process TAS --
GO:0044255 cellular lipid metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0046491 L-methylmalonyl-CoA metabolic process IDA 11481338
genes like me logo Genes that share ontologies with MCEE: view

Compounds for MCEE Gene

(3) HMDB Compounds for MCEE Gene

Compound Synonyms Cas Number PubMed IDs
Methylmalonyl-CoA
  • (R)-methylmalonyl-CoA
104809-02-1
R-Methylmalonyl-CoA
73173-92-9
S-Methylmalonyl-CoA
  • (S)-Methylmalonyl-CoA
73173-91-8

(7) Novoseek inferred chemical compound relationships for MCEE Gene

Compound -log(P) Hits PubMed IDs
adenosylcobalamin 86.1 1
methylmalonic acid 82 2
fosfomycin 72.9 2
isoleucine 56.7 1
vitamin b12 50.4 1
genes like me logo Genes that share compounds with MCEE: view

Transcripts for MCEE Gene

mRNA/cDNA for MCEE Gene

Unigene Clusters for MCEE Gene

Methylmalonyl CoA epimerase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MCEE Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b
SP1: -
SP2:
SP3: - - - -
SP4:

Relevant External Links for MCEE Gene

GeneLoc Exon Structure for
MCEE
ECgene alternative splicing isoforms for
MCEE

Expression for MCEE Gene

mRNA expression in normal human tissues for MCEE Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MCEE Gene

SOURCE GeneReport for Unigene cluster for MCEE Gene Hs.94949

genes like me logo Genes that share expressions with MCEE: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCEE Gene

Orthologs for MCEE Gene

This gene was present in the common ancestor of animals.

Orthologs for MCEE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCEE 35
  • 99.81 (n)
  • 99.43 (a)
MCEE 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MCEE 35
  • 84.2 (n)
  • 83.82 (a)
MCEE 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCEE 35
  • 88.07 (n)
  • 85.8 (a)
MCEE 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mcee 35
  • 83.14 (n)
  • 80.11 (a)
Mcee 16
Mcee 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MCEE 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCEE 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcee 35
  • 83.9 (n)
  • 81.82 (a)
chicken
(Gallus gallus)
Aves MCEE 35
  • 69.41 (n)
  • 69.41 (a)
MCEE 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCEE 36
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11455 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mcee 35
  • 68.07 (n)
  • 71.08 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3080 35
zebrafish
(Danio rerio)
Actinopterygii mcee 35
  • 69.48 (n)
  • 76.62 (a)
mcee 36
  • 69 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mce-1 35
  • 64.87 (n)
  • 70.77 (a)
mce-1 36
  • 58 (a)
OneToOne
D2030.5 37
  • 70 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5894 35
Species with no ortholog for MCEE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCEE Gene

ENSEMBL:
Gene Tree for MCEE (if available)
TreeFam:
Gene Tree for MCEE (if available)

Paralogs for MCEE Gene

No data available for Paralogs for MCEE Gene

Variants for MCEE Gene

Sequence variations from dbSNP and Humsavar for MCEE Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs4852759 -- 71,110,697(+) CCCCA(C/T)CCAAA intron-variant, utr-variant-3-prime
rs4852760 -- 71,111,117(+) AAATA(A/C)GCTAT intron-variant
rs4852761 -- 71,126,347(+) ctcag(C/T)ctcct intron-variant
rs6546675 -- 71,113,795(+) atgga(C/G)gagaa intron-variant
rs6546676 -- 71,119,182(+) GGGTA(C/T)GAGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MCEE Gene

Variant ID Type Subtype PubMed ID
nsv874253 CNV Gain 21882294
nsv834256 CNV Gain 17160897
esv2720185 CNV Deletion 23290073
esv2662403 CNV Deletion 23128226
nsv517762 CNV Gain+Loss 19592680
nsv874254 CNV Loss 21882294
nsv438353 CNV Loss 16468122
nsv2771 CNV Loss 18451855
nsv10002 CNV Loss 18304495
dgv1196e1 CNV Complex 17122850
esv22790 CNV Loss 19812545
nsv436287 CNV Deletion 17901297
nsv498925 CNV Loss 21111241
esv2678453 CNV Deletion 23128226
nsv818028 CNV Loss 17921354
nsv818039 CNV Loss 17921354
nsv514075 CNV Loss 21397061
nsv508148 CNV Loss 20534489
nsv819575 CNV Gain 19587683
esv2675733 CNV Deletion 23128226

Relevant External Links for MCEE Gene

HapMap Linkage Disequilibrium report
MCEE
Human Gene Mutation Database (HGMD)
MCEE
Locus Specific Mutation Databases (LSDB)
MCEE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCEE Gene

Disorders for MCEE Gene

(1) OMIM Diseases for MCEE Gene (608419)

UniProtKB/Swiss-Prot

MCEE_HUMAN
  • 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:0000269 PubMed:16752391}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for MCEE Gene

(1) Novoseek inferred disease relationships for MCEE Gene

Disease -log(P) Hits PubMed IDs
methylmalonic aciduria 87.9 5

Relevant External Links for MCEE

GeneTests
MCEE
GeneReviews
MCEE
Genetic Association Database (GAD)
MCEE
Human Genome Epidemiology (HuGE) Navigator
MCEE
genes like me logo Genes that share disorders with MCEE: view

Publications for MCEE Gene

  1. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. (PMID: 16752391) Bikker H. … Duran M. (Hum. Mutat. 2006) 2 3 4 23
  2. Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism. (PMID: 16843692) Chandler R.J. … Venditti C.P. (Mol. Genet. Metab. 2006) 2 3 23
  3. Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome. (PMID: 11481338) Bobik T.A. … Rasche M.E. (J. Biol. Chem. 2001) 3 4 23
  4. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. (PMID: 16697227) Dobson C.M. … Gravel R.A. (Mol. Genet. Metab. 2006) 2 3 23
  5. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). (PMID: 17823972) Gradinger A.B. … Rosenblatt D.S. (Hum. Mutat. 2007) 3 23

Products for MCEE Gene

  • Addgene plasmids for MCEE

Sources for MCEE Gene

Back to Top

Content