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    MMUT methylmalonyl-CoA mutase [ Homo sapiens (human) ]

    Gene ID: 4594, updated on 8-Jul-2021

    Summary

    Official Symbol
    MMUTprovided by HGNC
    Official Full Name
    methylmalonyl-CoA mutaseprovided by HGNC
    Primary source
    HGNC:HGNC:7526
    See related
    Ensembl:ENSG00000146085 MIM:609058
    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
    MCM; MUT
    Summary
    This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 48.6), kidney (RPKM 23.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See MMUT in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (49430360..49463298, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (49398073..49430966, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 65 pseudogene Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 42 Neighboring gene centromere protein Q Neighboring gene glycine-N-acyltransferase like 3

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
    GeneReviews: Not available
    Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
    GeneReviews: Not available
    Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cobalamin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables methylmalonyl-CoA mutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables methylmalonyl-CoA mutase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables methylmalonyl-CoA mutase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables modified amino acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in homocysteine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    methylmalonyl-CoA mutase, mitochondrial
    Names
    methylmalonyl Coenzyme A mutase
    methylmalonyl-CoA isomerase
    methylmalonyl-CoA mutase c.*192delA
    methylmalonyl-CoA mutase c.*51C>G
    methylmalonyl-CoA mutase variant c.1495G>A
    methylmalonyl-CoA mutase variant c.2011A>G
    methylmalonyl-CoA mutase variant c.2150G>T
    methylmalonyl-CoA mutase variant c.322C>T
    methylmalonyl-CoA mutase variant c.613_615delGAA
    methylmalonyl-CoA mutase variant c.636G>A
    methylmalonyl-CoA mutase variant c.643G>A
    mutant methylmalonyl CoA mutase
    truncated methylmalonyl CoA mutase
    truncated methylmalonyl-CoA mutase variant c.1420C>T
    truncated methylmalonyl-CoA mutase variant c.2179C>T
    truncated methylmalonyl-CoA mutase variant c.91C>T
    NP_000246.2
    XP_005249200.1

    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_007100.1 RefSeqGene

      Range
      4887..37780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000255.4NP_000246.2  methylmalonyl-CoA mutase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_000246.2

      Status: REVIEWED

      Source sequence(s)
      AK292568, AK312611, AL590668
      Consensus CDS
      CCDS4924.1
      UniProtKB/Swiss-Prot
      P22033
      UniProtKB/TrEMBL
      A0A024RD82, B2R6K1
      Related
      ENSP00000274813.3, ENST00000274813.4
      Conserved Domains (1) summary
      PRK09426
      Location:41744
      PRK09426; methylmalonyl-CoA mutase; Reviewed

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      49430360..49463298 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249143.3XP_005249200.1  methylmalonyl-CoA mutase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005249200.1

      UniProtKB/Swiss-Prot
      P22033
      UniProtKB/TrEMBL
      A0A024RD82
      Conserved Domains (1) summary
      PRK09426
      Location:41744
      PRK09426; methylmalonyl-CoA mutase; Reviewed
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