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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
CleanExiHS_MCEE
ExpressionAtlasiQ96PE7 baseline and differential
GenevisibleiQ96PE7 HS

Organism-specific databases

HPAiHPA035196

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124208, 3 interactors
IntActiQ96PE7, 2 interactors
STRINGi9606.ENSP00000244217

Structurei

Secondary structure

1176
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi45 – 54Combined sources10
Helixi58 – 67Combined sources10
Beta strandi77 – 79Combined sources3
Helixi80 – 82Combined sources3
Beta strandi84 – 90Combined sources7
Beta strandi92 – 101Combined sources10
Helixi109 – 114Combined sources6
Beta strandi119 – 128Combined sources10
Helixi130 – 139Combined sources10
Beta strandi155 – 161Combined sources7
Beta strandi171 – 175Combined sources5

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...

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

Sequencei

Sequence statusi: Complete.

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

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

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

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: June 20, 2018
This is version 135 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

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