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

Gene ID: 84693, updated on 3-Mar-2019

Summary

Official Symbol
MCEEprovided by HGNC
Official Full Name
methylmalonyl-CoA epimeraseprovided by HGNC
Primary source
HGNC:HGNC:16732
See related
Ensembl:ENSG00000124370 MIM:608419
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
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

Genomic context

See MCEE in Genome Data Viewer
Location:
2p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (71109676..71130288, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71336806..71357394, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily E member 62 pseudogene Neighboring gene N-acetylglucosamine kinase Neighboring gene M-phase phosphoprotein 10 Neighboring gene poly(A) binding protein interacting protein 2B

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..25589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032601.4NP_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
    Q96PE7
    Related
    ENSP00000244217.5, ENST00000244217.5
    Conserved Domains (1) summary
    TIGR03081
    Location:47175
    metmalonyl_epim; methylmalonyl-CoA epimerase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    71109676..71130288 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264613.2XP_005264670.1  methylmalonyl-CoA epimerase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005264670.1

    Conserved Domains (1) summary
    cl14632
    Location:47121
    Glo_EDI_BRP_like; This domain superfamily is found in a variety of structurally related metalloproteins, including the type I extradiol dioxygenases, glyoxalase I and a group of antibiotic resistance proteins

RNA

  1. XR_939729.2 RNA Sequence

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