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Protein

Methylmalonyl-CoA epimerase, mitochondrial

Gene

MCEE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic activityi

(R)-methylmalonyl-CoA = (S)-methylmalonyl-CoA.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi50Cobalt; via tele nitrogen1 Publication1
Metal bindingi122Cobalt; via tele nitrogen1 Publication1
Metal bindingi172Cobalt1 Publication1

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • methylmalonyl-CoA epimerase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionIsomerase
LigandCobalt, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS13124-MONOMER
BRENDAi5.1.99.1 2681
ReactomeiR-HSA-71032 Propionyl-CoA catabolism

Chemistry databases

SwissLipidsiSLP:000001255

Names & Taxonomyi

Protein namesi
Recommended name:
Methylmalonyl-CoA epimerase, mitochondrial (EC:5.1.99.1)
Alternative name(s):
DL-methylmalonyl-CoA racemase
Gene namesi
Name:MCEE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000124370.10
HGNCiHGNC:16732 MCEE
MIMi608419 gene
neXtProtiNX_Q96PE7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Methylmalonyl-CoA epimerase deficiency (MCEED)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
See also OMIM:251120

Organism-specific databases

DisGeNETi84693
GeneReviewsiMCEE
MalaCardsiMCEE
MIMi251120 phenotype
OpenTargetsiENSG00000124370
Orphaneti308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
PharmGKBiPA30683

Polymorphism and mutation databases

BioMutaiMCEE

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 36MitochondrionSequence analysisAdd BLAST36
ChainiPRO_000001228337 – 176Methylmalonyl-CoA epimerase, mitochondrialAdd BLAST140

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei114N6-succinyllysineBy similarity1
Modified residuei150N6-acetyllysine; alternateBy similarity1
Modified residuei150N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ96PE7
MaxQBiQ96PE7
PaxDbiQ96PE7
PeptideAtlasiQ96PE7
PRIDEiQ96PE7
ProteomicsDBi77685

2D gel databases

UCD-2DPAGEiQ96PE7

PTM databases

iPTMnetiQ96PE7
PhosphoSitePlusiQ96PE7

Expressioni

Gene expression databases

BgeeiENSG00000124370 Expressed in 195 organ(s), highest expression level in right lobe of liver
CleanExiHS_MCEE
ExpressionAtlasiQ96PE7 baseline and differential
GenevisibleiQ96PE7 HS

Organism-specific databases

HPAiHPA035196

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi124208, 3 interactors
IntActiQ96PE7, 4 interactors
STRINGi9606.ENSP00000244217

Structurei

Secondary structure

1176
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ96PE7
SMRiQ96PE7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini47 – 176VOCPROSITE-ProRule annotationAdd BLAST130

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi138 – 141Poly-Lys4

Sequence similaritiesi

Belongs to the glyoxalase I family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2944 Eukaryota
COG0346 LUCA
GeneTreeiENSGT00390000004772
HOGENOMiHOG000232024
HOVERGENiHBG052426
InParanoidiQ96PE7
KOiK05606
OMAiCYEVDDI
OrthoDBiEOG091G0WSQ
PhylomeDBiQ96PE7
TreeFamiTF313417

Family and domain databases

CDDicd07249 MMCE, 1 hit
Gene3Di3.10.180.10, 1 hit
InterProiView protein in InterPro
IPR029068 Glyas_Bleomycin-R_OHBP_Dase
IPR017515 MeMalonyl-CoA_epimerase
IPR037523 VOC
SUPFAMiSSF54593 SSF54593, 1 hit
TIGRFAMsiTIGR03081 metmalonyl_epim, 1 hit
PROSITEiView protein in PROSITE
PS51819 VOC, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q96PE7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MARVLKAAAA NAVGLFSRLQ APIPTVRASS TSQPLDQVTG SVWNLGRLNH
60 70 80 90 100
VAIAVPDLEK AAAFYKNILG AQVSEAVPLP EHGVSVVFVN LGNTKMELLH
110 120 130 140 150
PLGRDSPIAG FLQKNKAGGM HHICIEVDNI NAAVMDLKKK KIRSLSEEVK
160 170
IGAHGKPVIF LHPKDCGGVL VELEQA
Length:176
Mass (Da):18,749
Last modified:December 1, 2001 - v1
Checksum:iF783E5DF5D778220
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BZS7H7BZS7_HUMAN
Methylmalonyl-CoA epimerase, mitoch...
MCEE
78Annotation score:
F5GZ54F5GZ54_HUMAN
Methylmalonyl-CoA epimerase, mitoch...
MCEE
31Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04924876A → V. Corresponds to variant dbSNP:rs11541017EnsemblClinVar.1
Natural variantiVAR_019511104R → L1 PublicationCorresponds to variant dbSNP:rs6748672EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF364547 mRNA Translation: AAK52052.1
AC007881 Genomic DNA Translation: AAY14749.1
CH471053 Genomic DNA Translation: EAW99778.1
BC020825 mRNA Translation: AAH20825.1
CCDSiCCDS1915.1
RefSeqiNP_115990.3, NM_032601.3
UniGeneiHs.94949

Genome annotation databases

EnsembliENST00000244217; ENSP00000244217; ENSG00000124370
GeneIDi84693
KEGGihsa:84693
UCSCiuc002shs.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF364547 mRNA Translation: AAK52052.1
AC007881 Genomic DNA Translation: AAY14749.1
CH471053 Genomic DNA Translation: EAW99778.1
BC020825 mRNA Translation: AAH20825.1
CCDSiCCDS1915.1
RefSeqiNP_115990.3, NM_032601.3
UniGeneiHs.94949

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3RMUX-ray1.80A/B/C/D45-176[»]
ProteinModelPortaliQ96PE7
SMRiQ96PE7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124208, 3 interactors
IntActiQ96PE7, 4 interactors
STRINGi9606.ENSP00000244217

Chemistry databases

SwissLipidsiSLP:000001255

PTM databases

iPTMnetiQ96PE7
PhosphoSitePlusiQ96PE7

Polymorphism and mutation databases

BioMutaiMCEE

2D gel databases

UCD-2DPAGEiQ96PE7

Proteomic databases

EPDiQ96PE7
MaxQBiQ96PE7
PaxDbiQ96PE7
PeptideAtlasiQ96PE7
PRIDEiQ96PE7
ProteomicsDBi77685

Protocols and materials databases

DNASUi84693
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000244217; ENSP00000244217; ENSG00000124370
GeneIDi84693
KEGGihsa:84693
UCSCiuc002shs.3 human

Organism-specific databases

CTDi84693
DisGeNETi84693
EuPathDBiHostDB:ENSG00000124370.10
GeneCardsiMCEE
GeneReviewsiMCEE
HGNCiHGNC:16732 MCEE
HPAiHPA035196
MalaCardsiMCEE
MIMi251120 phenotype
608419 gene
neXtProtiNX_Q96PE7
OpenTargetsiENSG00000124370
Orphaneti308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
PharmGKBiPA30683
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2944 Eukaryota
COG0346 LUCA
GeneTreeiENSGT00390000004772
HOGENOMiHOG000232024
HOVERGENiHBG052426
InParanoidiQ96PE7
KOiK05606
OMAiCYEVDDI
OrthoDBiEOG091G0WSQ
PhylomeDBiQ96PE7
TreeFamiTF313417

Enzyme and pathway databases

BioCyciMetaCyc:HS13124-MONOMER
BRENDAi5.1.99.1 2681
ReactomeiR-HSA-71032 Propionyl-CoA catabolism

Miscellaneous databases

ChiTaRSiMCEE human
GenomeRNAii84693
PROiPR:Q96PE7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124370 Expressed in 195 organ(s), highest expression level in right lobe of liver
CleanExiHS_MCEE
ExpressionAtlasiQ96PE7 baseline and differential
GenevisibleiQ96PE7 HS

Family and domain databases

CDDicd07249 MMCE, 1 hit
Gene3Di3.10.180.10, 1 hit
InterProiView protein in InterPro
IPR029068 Glyas_Bleomycin-R_OHBP_Dase
IPR017515 MeMalonyl-CoA_epimerase
IPR037523 VOC
SUPFAMiSSF54593 SSF54593, 1 hit
TIGRFAMsiTIGR03081 metmalonyl_epim, 1 hit
PROSITEiView protein in PROSITE
PS51819 VOC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMCEE_HUMAN
AccessioniPrimary (citable) accession number: Q96PE7
Secondary accession number(s): Q53TP1, Q8WW63
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 137 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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