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Q96PE7 (MCEE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Methylmalonyl-CoA epimerase, mitochondrial

EC=5.1.99.1
Alternative name(s):
DL-methylmalonyl-CoA racemase
Gene names
Name:MCEE
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length176 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

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

Subcellular location

Mitochondrion Probable.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the glyoxalase I family.

Ontologies

Keywords
   Cellular componentMitochondrion
   Coding sequence diversityPolymorphism
   DomainTransit peptide
   Molecular functionIsomerase
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processL-methylmalonyl-CoA metabolic process

Inferred from direct assay Ref.1. Source: UniProtKB

fatty acid beta-oxidation

Traceable author statement. Source: Reactome

short-chain fatty acid catabolic process

Traceable author statement. Source: Reactome

   Cellular_componentmitochondrial matrix

Traceable author statement. Source: Reactome

   Molecular_functionmethylmalonyl-CoA epimerase activity

Inferred from direct assay Ref.1. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3636Mitochondrion Potential
Chain37 – 176140Methylmalonyl-CoA epimerase, mitochondrial
PRO_0000012283

Regions

Compositional bias138 – 1414Poly-Lys

Natural variations

Natural variant761A → V.
Corresponds to variant rs11541017 [ dbSNP | Ensembl ].
VAR_049248
Natural variant1041R → L. Ref.4
Corresponds to variant rs6748672 [ dbSNP | Ensembl ].
VAR_019511

Secondary structure

...................... 176
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q96PE7 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: F783E5DF5D778220

FASTA17618,749
        10         20         30         40         50         60 
MARVLKAAAA NAVGLFSRLQ APIPTVRASS TSQPLDQVTG SVWNLGRLNH VAIAVPDLEK 

        70         80         90        100        110        120 
AAAFYKNILG AQVSEAVPLP EHGVSVVFVN LGNTKMELLH PLGRDSPIAG FLQKNKAGGM 

       130        140        150        160        170 
HHICIEVDNI NAAVMDLKKK KIRSLSEEVK IGAHGKPVIF LHPKDCGGVL VELEQA 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF364547 mRNA. Translation: AAK52052.1.
AC007881 Genomic DNA. Translation: AAY14749.1.
CH471053 Genomic DNA. Translation: EAW99778.1.
BC020825 mRNA. Translation: AAH20825.1.
IPIIPI00107722.
RefSeqNP_115990.3. NM_032601.3.
UniGeneHs.94949.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3RMUX-ray1.80A/B/C/D45-176[»]
ProteinModelPortalQ96PE7.
ModBaseSearch...

Protein-protein interaction databases

STRING9606.ENSP00000244217.

PTM databases

PhosphoSiteQ96PE7.

Polymorphism databases

DMDM50401130.

2D gel databases

UCD-2DPAGEQ96PE7.

Proteomic databases

PaxDbQ96PE7.
PRIDEQ96PE7.

Protocols and materials databases

DNASU84693.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000244217; ENSP00000244217; ENSG00000124370.
GeneID84693.
KEGGhsa:84693.
UCSCuc002shs.2. human.

Organism-specific databases

CTD84693.
GeneCardsGC02M071336.
HGNCHGNC:16732. MCEE.
HPAHPA035196.
MIM251120. phenotype.
608419. gene.
neXtProtNX_Q96PE7.
Orphanet27. Vitamin B12-unresponsive methylmalonic acidemia.
PharmGKBPA30683.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0346.
HOGENOMHOG000232024.
HOVERGENHBG052426.
InParanoidQ96PE7.
KOK05606.
OMACYEVDDI.
OrthoDBEOG44J2KB.
PhylomeDBQ96PE7.

Enzyme and pathway databases

BRENDA5.1.99.1. 2681.
ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ96PE7.
BgeeQ96PE7.
CleanExHS_MCEE.
GenevestigatorQ96PE7.
GermOnlineENSG00000124370. Homo sapiens.

Family and domain databases

InterProIPR017515. MeMalonyl-CoA_epimerase.
[Graphical view]
TIGRFAMsTIGR03081. metmalonyl_epim. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi84693.
NextBio74761.
SOURCESearch...

Entry information

Entry nameMCEE_HUMAN
AccessionPrimary (citable) accession number: Q96PE7
Secondary accession number(s): Q53TP1, Q8WW63
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: December 1, 2001
Last modified: May 1, 2013
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families