U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    Mmut methylmalonyl-Coenzyme A mutase [ Mus musculus (house mouse) ]

    Gene ID: 17850, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    Mmutprovided by MGI
    Official Full Name
    methylmalonyl-Coenzyme A mutaseprovided by MGI
    Primary source
    MGI:MGI:97239
    See related
    Ensembl:ENSMUSG00000023921 AllianceGenome:MGI:97239
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mcm; Mut; D230010K02Rik
    Summary
    Enables methylmalonyl-CoA mutase activity. Acts upstream of or within post-embryonic development. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; lung; nervous system; and trophectoderm. Used to study methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. Human ortholog(s) of this gene implicated in methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. Orthologous to human MMUT (methylmalonyl-CoA mutase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney adult (RPKM 18.8), liver E18 (RPKM 12.2) and 24 other tissues See more
    Orthologs
    human all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See Mmut in Genome Data Viewer
    Location:
    17 B2; 17 19.55 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (41245576..41272880)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (40934685..40961990)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 9130008F23 gene Neighboring gene glycine-N-acyltransferase-like 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:41071423-41071532 Neighboring gene centromere protein Q Neighboring gene predicted gene, 54006 Neighboring gene STARR-seq mESC enhancer starr_42552 Neighboring gene lactate dehydrogenase A, pseudogene 3

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Forny P, et al. Nat Metab, 2023 Jan. PMID 36717752, Free PMC Article
    2. Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing. Venturoni LE, et al. Mol Genet Metab, 2022 Sep-Oct. PMID 35868241, Free PMC Article
    3. In vivo genome editing at the albumin locus to treat methylmalonic acidemia. Schneller JL, et al. Mol Ther Methods Clin Dev, 2021 Dec 10. PMID 34901307, Free PMC Article
    4. Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia. Chandler RJ, et al. Hepatology, 2021 Jun. PMID 32976669, Free PMC Article
    5. In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria. Lucienne M, et al. Biochim Biophys Acta Mol Basis Dis, 2020 Mar 1. PMID 31770620

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
      Title: Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
    2. Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia.
      Title: Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia.
    3. We confirmed significant NH4(+) accumulation in culture media of Mut(-/-) aggregates, suggesting that intracellular NH4(+) concentrations might even be higher, gave first clues on the mechanisms leading to NH4(+) accumulation in Mut(-/-) brain cells, and showed the involvement of neuroinflammatory processes in the neuropathophysiology of Methylmalonic aciduria .
      Title: New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.
    4. On a high protein diet, mutant mice display disease exacerbation, including elevated blood ammonia, and catastrophic weight loss, which, in Mut(ki/ki) mice, is rescued by hydroxocobalamin treatment. This study expands knowledge of MMAuria, introduces the discovery of new biomarkers, and constitutes the first in vivo proof of principle of cobalamin treatment in mut-type MMAuria.
      Title: Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
    5. The mouse methylmalonic aciduria- related genes, Mmaa, Mmab, and Mut may have specialized functions depending on the tissue or cell type.
      Title: The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis.
    6. Includes the study of an upstream ORF in this gene, and shows that it functions to reduce protein levels by ~61%.
      Title: Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.
    7. Mitochondrial dysfunction in Mut is reported.
      Title: Mitochondrial dysfunction in mut methylmalonic acidemia.
    8. methylmalonyl-CoA mutase has a role in methylmalonic aciduria and early neonatal lethality
      Title: A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.
    Submit: New GeneRIF Correction

    Variation

    Go to the top of the page Help

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cobalamin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cobalamin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables intramolecular transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    enables methylmalonyl-CoA mutase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylmalonyl-CoA mutase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables modified amino acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in homocysteine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in propionate metabolic process, methylmalonyl pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in succinyl-CoA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    methylmalonyl-CoA mutase, mitochondrial
    Names
    methylmalonyl-CoA isomerase
    NP_032676.2
    XP_017172780.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_008650.3 → NP_032676.2  methylmalonyl-CoA mutase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_032676.2

      Status: VALIDATED

      Source sequence(s)
      AC121875, AC121932, AK012766, BY262299
      Consensus CDS
      CCDS37618.1
      UniProtKB/Swiss-Prot
      P16332, Q3UJU1
      UniProtKB/TrEMBL
      Q8VED0
      Related
      ENSMUSP00000130941.3, ENSMUST00000169611.4
      Conserved Domains (3) summary
      TIGR00640
      Location:611 → 741
      acid_CoA_mut_C; methylmalonyl-CoA mutase C-terminal domain
      PRK09426
      Location:39 → 739
      PRK09426; methylmalonyl-CoA mutase; Reviewed
      cd03679
      Location:38 → 572
      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: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      41245576..41272880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317291.3 → XP_017172780.1  methylmalonyl-CoA mutase, mitochondrial isoform X1

      Conserved Domains (1) summary
      PRK09426
      Location:1 → 489
      PRK09426; methylmalonyl-CoA mutase; Reviewed
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16332.2 GenPept UniProtKB/Swiss-Prot:P16332

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous