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    MCEE methylmalonyl-CoA epimerase [ Homo sapiens (human) ]

    Gene ID: 84693, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MCEEprovided by HGNC
    Official Full Name
    methylmalonyl-CoA epimeraseprovided by HGNC
    Primary source
    HGNC:HGNC:16732
    See related
    Ensembl:ENSG00000124370 MIM:608419; AllianceGenome:HGNC:16732
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCE; MMCE; GLOD2
    Summary
    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]
    Expression
    Ubiquitous expression in liver (RPKM 12.0), kidney (RPKM 11.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MCEE in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (71109687..71130229, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (71120700..71141269, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71336817..71357359, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16011 Neighboring gene olfactory receptor family 7 subfamily E member 62 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71310886-71311700 Neighboring gene N-acetylglucosamine kinase Neighboring gene NANOG hESC enhancer GRCh37_chr2:71317686-71318275 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71330180-71330990 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71345289-71345789 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71356582-71357440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16015 Neighboring gene M-phase phosphoprotein 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16016 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:71384714-71384875 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:71388687-71389348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71411093-71411594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71411595-71412094 Neighboring gene poly(A) binding protein interacting protein 2B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71453663-71454163

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. Dobson CM, et al. Mol Genet Metab, 2006 Aug. PMID 16697227
    2. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Bikker H, et al. Hum Mutat, 2006 Jul. PMID 16752391
    3. Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. Heuberger K, et al. Biochim Biophys Acta Mol Basis Dis, 2019 Jun 1. PMID 30682498, Free PMC Article
    4. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). Gradinger AB, et al. Hum Mutat, 2007 Oct. PMID 17823972
    5. Isolated Methylmalonic Acidemia. Adam MP, et al. , 1993. PMID 20301409

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results indicate that methylmalonyl-CoA epimerase (MCEE)-Arg143Cys mutaaaaaaation was detectable at comparable levels to wildtype (wt) MCEE, but had slightly altered unfolding kinetics and greatly reduced activity.
      Title: Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. analysis of frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE) in atypical methylmalonic aciduria
      Title: Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methylmalonyl-CoA epimerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methylmalonyl-CoA epimerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylmalonyl-CoA epimerase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-methylmalonyl-CoA metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-methylmalonyl-CoA metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in short-chain fatty acid catabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    methylmalonyl-CoA epimerase, mitochondrial
    Names
    DL-methylmalonyl-CoA racemase
    glyoxalase domain containing 2
    methylmalonyl CoA isomerase
    NP_115990.3
    XP_005264670.1
    XP_047301995.1
    XP_054200192.1
    XP_054200193.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008977.1 RefSeqGene

      Range
      5036..25578
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032601.4 → NP_115990.3  methylmalonyl-CoA epimerase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_115990.3

      Status: REVIEWED

      Source sequence(s)
      AF364547, AI033764, BC020825
      Consensus CDS
      CCDS1915.1
      UniProtKB/Swiss-Prot
      Q53TP1, Q8WW63, Q96PE7
      Related
      ENSP00000244217.5, ENST00000244217.6
      Conserved Domains (1) summary
      TIGR03081
      Location:47 → 175
      metmalonyl_epim; methylmalonyl-CoA epimerase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      71109687..71130229 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264613.3 → XP_005264670.1  methylmalonyl-CoA epimerase, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_005264670.1

      Conserved Domains (1) summary
      cl14632
      Location:47 → 121
      VOC; vicinal oxygen chelate (VOC) family

    2. XM_047446039.1 → XP_047301995.1  methylmalonyl-CoA epimerase, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      71120700..71141269 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344218.1 → XP_054200193.1  methylmalonyl-CoA epimerase, mitochondrial isoform X2

    2. XM_054344217.1 → XP_054200192.1  methylmalonyl-CoA epimerase, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PE7.1 GenPept UniProtKB/Swiss-Prot:Q96PE7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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