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    Mmut methylmalonyl-CoA mutase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 688517, updated on 27-Nov-2024

    Summary

    Official Symbol
    Mmutprovided by RGD
    Official Full Name
    methylmalonyl-CoA mutaseprovided by RGD
    Primary source
    RGD:1587662
    See related
    EnsemblRapid:ENSRNOG00000050843 AllianceGenome:RGD:1587662
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Mut
    Summary
    Predicted to enable several functions, including cobalamin binding activity; methylmalonyl-CoA mutase activity; and protein homodimerization activity. Predicted to be involved in carboxylic acid metabolic process; positive regulation of GTPase activity; and succinyl-CoA biosynthetic process. Predicted to act upstream of or within post-embryonic development. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. 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, Nov 2024]
    Expression
    Biased expression in Kidney (RPKM 475.9), Liver (RPKM 419.7) and 9 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Mmut in Genome Data Viewer
    Location:
    9q13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 9 NC_086027.1 (27425935..27454202, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 9 NC_051344.1 (19928720..19956985, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 9 NC_005108.4 (23323934..23352144, complement)

    Chromosome 9 - NC_086027.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134480348 Neighboring gene uncharacterized LOC120094642 Neighboring gene small ribosomal subunit protein eS12-like Neighboring gene centromere protein Q Neighboring gene glycine-N-acyltransferase-like 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables GTPase activity ISO
    Inferred from Sequence Orthology
    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 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 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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in propionate metabolic process, methylmalonyl pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in succinyl-CoA biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    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
     
    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

    Preferred Names
    methylmalonyl-CoA mutase, mitochondrial
    Names
    methylmalonyl-Coenzyme A mutase
    rCG43751-like
    NP_001386338.1
    XP_038940433.1
    XP_038940434.1

    NCBI Reference Sequences (RefSeq)

    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_001399409.1NP_001386338.1  methylmalonyl-CoA mutase, mitochondrial

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000009
      UniProtKB/TrEMBL
      A6JJ55
      Related
      ENSRNOP00000064363.2, ENSRNOT00000075279.4
      Conserved Domains (1) summary
      PRK09426
      Location:39743
      PRK09426; methylmalonyl-CoA mutase; Reviewed

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086027.1 Reference GRCr8

      Range
      27425935..27454202 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039084505.2XP_038940433.1  methylmalonyl-CoA mutase, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A8I6A0B2, A6JJ55
      Conserved Domains (1) summary
      PRK09426
      Location:39743
      PRK09426; methylmalonyl-CoA mutase; Reviewed
    2. XM_039084506.2XP_038940434.1  methylmalonyl-CoA mutase, mitochondrial isoform X2

      Conserved Domains (1) summary
      cd03679
      Location:38572
      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 ...