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

    Gene ID: 4594, updated on 13-Jun-2016
    Official Symbol
    MUTprovided by HGNC
    Official Full Name
    methylmalonyl-CoA mutaseprovided by HGNC
    Primary source
    HGNC:HGNC:7526
    See related
    Ensembl:ENSG00000146085 HPRD:02014; 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]
    Orthologs
    Location:
    6p12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    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
    cobalamin binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    methylmalonyl-CoA mutase activity IEA
    Inferred from Electronic Annotation
    more info
     
    modified amino acid binding 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 
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    short-chain fatty acid catabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    methylmalonyl-CoA mutase, mitochondrial
    Names
    methylmalonyl CoA mutase
    methylmalonyl Coenzyme A mutase
    methylmalonyl-CoA isomerase
    mutant methylmalonyl CoA mutase
    truncated methylmalonyl CoA mutase
    NP_000246.2

    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, OTTHUMP00000016578, ENST00000274813, OTTHUMT00000040854
      Conserved Domains (3) summary
      PRK09426
      Location:41744
      PRK09426; methylmalonyl-CoA mutase; Reviewed
      cd02071
      Location:616737
      MM_CoA_mut_B12_BD; methylmalonyl CoA mutase B12 binding domain. This domain binds to B12 (adenosylcobamide), which initiates the conversion of succinyl CoA and methylmalonyl CoA by forming an adenosyl radical, which then undergoes a rearrangement exchanging a hydrogen atom ...
      cd03679
      Location:40574
      MM_CoA_mutase_alpha_like; Coenzyme B12-dependent-methylmalonyl coenzyme A (CoA) mutase (MCM) family, Alpha subunit-like subfamily; contains proteins similar to the alpha subunit of Propionbacterium shermanni MCM, as well as human and E. coli MCM. Members of this subfamily contain ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      49430360..49463328 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249143.3XP_005249200.1  

      See identical proteins and their annotated locations for XP_005249200.1

      UniProtKB/Swiss-Prot
      P22033
      UniProtKB/TrEMBL
      A0A024RD82
      Conserved Domains (3) summary
      PRK09426
      Location:41744
      PRK09426; methylmalonyl-CoA mutase; Reviewed
      cd02071
      Location:616737
      MM_CoA_mut_B12_BD; methylmalonyl CoA mutase B12 binding domain. This domain binds to B12 (adenosylcobamide), which initiates the conversion of succinyl CoA and methylmalonyl CoA by forming an adenosyl radical, which then undergoes a rearrangement exchanging a hydrogen atom ...
      cd03679
      Location:40574
      MM_CoA_mutase_alpha_like; Coenzyme B12-dependent-methylmalonyl coenzyme A (CoA) mutase (MCM) family, Alpha subunit-like subfamily; contains proteins similar to the alpha subunit of Propionbacterium shermanni MCM, as well as human and E. coli MCM. Members of this subfamily contain ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      49401109..49434080 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)