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Q96PE7

- MCEE_HUMAN

UniProt

Q96PE7 - MCEE_HUMAN

Protein

Methylmalonyl-CoA epimerase, mitochondrial

Gene

MCEE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Catalytic activityi

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

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi50 – 501Cobalt; via tele nitrogen1 Publication
    Metal bindingi122 – 1221Cobalt; via tele nitrogen1 Publication
    Metal bindingi172 – 1721Cobalt1 Publication

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. methylmalonyl-CoA epimerase activity Source: UniProtKB

    GO - Biological processi

    1. cellular lipid metabolic process Source: Reactome
    2. fatty acid beta-oxidation Source: Reactome
    3. L-methylmalonyl-CoA metabolic process Source: UniProtKB
    4. short-chain fatty acid catabolic process Source: Reactome
    5. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Isomerase

    Keywords - Ligandi

    Cobalt, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS13124-MONOMER.
    BRENDAi5.1.99.1. 2681.
    ReactomeiREACT_993. Propionyl-CoA catabolism.

    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
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:16732. MCEE.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial matrix Source: Reactome

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi251120. phenotype.
    Orphaneti308425. Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency.
    PharmGKBiPA30683.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3636MitochondrionSequence AnalysisAdd
    BLAST
    Chaini37 – 176140Methylmalonyl-CoA epimerase, mitochondrialPRO_0000012283Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei114 – 1141N6-succinyllysineBy similarity
    Modified residuei150 – 1501N6-acetyllysine; alternateBy similarity
    Modified residuei150 – 1501N6-succinyllysine; alternateBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ96PE7.
    PaxDbiQ96PE7.
    PRIDEiQ96PE7.

    2D gel databases

    UCD-2DPAGEQ96PE7.

    PTM databases

    PhosphoSiteiQ96PE7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96PE7.
    BgeeiQ96PE7.
    CleanExiHS_MCEE.
    GenevestigatoriQ96PE7.

    Organism-specific databases

    HPAiHPA035196.

    Interactioni

    Protein-protein interaction databases

    BioGridi124208. 1 interaction.
    STRINGi9606.ENSP00000244217.

    Structurei

    Secondary structure

    1
    176
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi45 – 5410
    Helixi58 – 6710
    Beta strandi77 – 793
    Helixi80 – 823
    Beta strandi84 – 907
    Beta strandi92 – 10110
    Helixi109 – 1146
    Beta strandi119 – 12810
    Helixi130 – 13910
    Beta strandi155 – 1617
    Beta strandi171 – 1755

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3RMUX-ray1.80A/B/C/D45-176[»]
    ProteinModelPortaliQ96PE7.
    SMRiQ96PE7. Positions 45-176.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi138 – 1414Poly-Lys

    Sequence similaritiesi

    Belongs to the glyoxalase I family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0346.
    HOGENOMiHOG000232024.
    HOVERGENiHBG052426.
    InParanoidiQ96PE7.
    KOiK05606.
    OMAiEKSPIAG.
    PhylomeDBiQ96PE7.
    TreeFamiTF313417.

    Family and domain databases

    Gene3Di3.10.180.10. 1 hit.
    InterProiIPR029068. Glyas_Bleomycin-R_OHBP_Dase.
    IPR017515. MeMalonyl-CoA_epimerase.
    [Graphical view]
    SUPFAMiSSF54593. SSF54593. 1 hit.
    TIGRFAMsiTIGR03081. metmalonyl_epim. 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

    MARVLKAAAA NAVGLFSRLQ APIPTVRASS TSQPLDQVTG SVWNLGRLNH    50
    VAIAVPDLEK AAAFYKNILG AQVSEAVPLP EHGVSVVFVN LGNTKMELLH 100
    PLGRDSPIAG FLQKNKAGGM HHICIEVDNI NAAVMDLKKK KIRSLSEEVK 150
    IGAHGKPVIF LHPKDCGGVL VELEQA 176
    Length:176
    Mass (Da):18,749
    Last modified:December 1, 2001 - v1
    Checksum:iF783E5DF5D778220
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti76 – 761A → V.
    Corresponds to variant rs11541017 [ dbSNP | Ensembl ].
    VAR_049248
    Natural varianti104 – 1041R → L.1 Publication
    Corresponds to variant rs6748672 [ dbSNP | Ensembl ].
    VAR_019511

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF364547 mRNA. Translation: AAK52052.1 .
    AC007881 Genomic DNA. Translation: AAY14749.1 .
    CH471053 Genomic DNA. Translation: EAW99778.1 .
    BC020825 mRNA. Translation: AAH20825.1 .
    CCDSi CCDS1915.1.
    RefSeqi NP_115990.3. NM_032601.3.
    UniGenei Hs.94949.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3RMU X-ray 1.80 A/B/C/D 45-176 [» ]
    ProteinModelPortali Q96PE7.
    SMRi Q96PE7. Positions 45-176.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124208. 1 interaction.
    STRINGi 9606.ENSP00000244217.

    PTM databases

    PhosphoSitei Q96PE7.

    2D gel databases

    UCD-2DPAGE Q96PE7.

    Proteomic databases

    MaxQBi Q96PE7.
    PaxDbi Q96PE7.
    PRIDEi Q96PE7.

    Protocols and materials databases

    DNASUi 84693.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000244217 ; ENSP00000244217 ; ENSG00000124370 .
    GeneIDi 84693.
    KEGGi hsa:84693.
    UCSCi uc002shs.2. human.

    Organism-specific databases

    CTDi 84693.
    GeneCardsi GC02M071336.
    GeneReviewsi MCEE.
    HGNCi HGNC:16732. MCEE.
    HPAi HPA035196.
    MIMi 251120. phenotype.
    608419. gene.
    neXtProti NX_Q96PE7.
    Orphaneti 308425. Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency.
    PharmGKBi PA30683.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0346.
    HOGENOMi HOG000232024.
    HOVERGENi HBG052426.
    InParanoidi Q96PE7.
    KOi K05606.
    OMAi EKSPIAG.
    PhylomeDBi Q96PE7.
    TreeFami TF313417.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS13124-MONOMER.
    BRENDAi 5.1.99.1. 2681.
    Reactomei REACT_993. Propionyl-CoA catabolism.

    Miscellaneous databases

    GenomeRNAii 84693.
    NextBioi 74761.
    PROi Q96PE7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96PE7.
    Bgeei Q96PE7.
    CleanExi HS_MCEE.
    Genevestigatori Q96PE7.

    Family and domain databases

    Gene3Di 3.10.180.10. 1 hit.
    InterProi IPR029068. Glyas_Bleomycin-R_OHBP_Dase.
    IPR017515. MeMalonyl-CoA_epimerase.
    [Graphical view ]
    SUPFAMi SSF54593. SSF54593. 1 hit.
    TIGRFAMsi TIGR03081. metmalonyl_epim. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome."
      Bobik T.A., Rasche M.E.
      J. Biol. Chem. 276:37194-37198(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION.
      Tissue: Liver.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-104.
      Tissue: Liver.
    5. "A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria."
      Bikker H., Bakker H.D., Abeling N.G.G.M., Poll-The B.T., Kleijer W.J., Rosenblatt D.S., Waterham H.R., Wanders R.J.A., Duran M.
      Hum. Mutat. 27:640-643(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MCEED.
    6. "Crystal structure of human methylmalonyl-CoA epimerase, MCEE."
      Structural genomics consortium (SGC)
      Submitted (APR-2011) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (1.80 ANGSTROMS) OF 45-176 IN COMPLEX WITH COBALT.

    Entry informationi

    Entry nameiMCEE_HUMAN
    AccessioniPrimary (citable) accession number: Q96PE7
    Secondary accession number(s): Q53TP1, Q8WW63
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 109 of the entry and version 1 of the sequence. [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. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3