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

    Gene ID: 4594, updated on 23-May-2018
    Official Symbol
    MUTprovided by HGNC
    Official Full Name
    methylmalonyl-CoA mutaseprovided by HGNC
    Primary source
    HGNC:HGNC:7526
    See related
    Ensembl:ENSG00000146085 MIM:609058; Vega:OTTHUMG00000014814
    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
    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
    See MUT in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (49430360..49463328, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (49398073..49431041, 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 Neighboring gene chromosome 6 open reading frame 141

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
    NHGRI GWA Catalog
    Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    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
      4812..37780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000255.3NP_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, DA777441
      Consensus CDS
      CCDS4924.1
      UniProtKB/Swiss-Prot
      P22033
      UniProtKB/TrEMBL
      A0A024RD82, B2R6K1
      Related
      ENSP00000274813.3, OTTHUMP00000016578, ENST00000274813.3, OTTHUMT00000040854
      Conserved Domains (1) summary
      PRK09426
      Location:41744
      PRK09426; methylmalonyl-CoA mutase; Reviewed

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      49430360..49463328 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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