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    Mmachc metabolism of cobalamin associated C [ Rattus norvegicus (Norway rat) ]

    Gene ID: 313520, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Mmachcprovided by RGD
    Official Full Name
    metabolism of cobalamin associated Cprovided by RGD
    Primary source
    RGD:1310806
    See related
    Ensembl:ENSRNOG00000017233 AllianceGenome:RGD:1310806
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1310806
    Summary
    Predicted to enable several functions, including anion binding activity; cyanocobalamin reductase (cyanide-eliminating) activity; and protein homodimerization activity. Predicted to be involved in cobalamin metabolic process; demethylation; and glutathione metabolic process. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblC. Orthologous to human MMACHC (metabolism of cobalamin associated C). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Heart (RPKM 154.9), Muscle (RPKM 100.9) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Mmachc in Genome Data Viewer
    Location:
    5q35
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (135403094..135409285, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (130166056..130172735, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (135555587..135561723, complement)

    Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member A1 Neighboring gene uncharacterized LOC134486971 Neighboring gene peroxiredoxin 1 Neighboring gene coiled-coil domain containing 163 Neighboring gene testis associated actin remodelling kinase 2 Neighboring gene ribosomal protein S26 like 4 Neighboring gene target of EGR1, exonuclease Neighboring gene mutY DNA glycosylase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. Froese DS, et al. Mol Genet Metab, 2009 Dec. PMID 19700356
    2. Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function. Froese DS, et al. Biochemistry, 2012 Jun 26. PMID 22642810
    3. A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins. Kim J, et al. J Biol Chem, 2009 Nov 27. PMID 19801555, Free PMC Article
    4. Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Fofou-Caillierez MB, et al. Hum Mol Genet, 2013 Nov 15. PMID 23825108
    5. Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. Mah W, et al. Mol Genet Metab, 2013 Feb. PMID 23270877

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables FAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables FAD binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cobalamin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cyanocobalamin reductase (cyanide-eliminating) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cyanocobalamin reductase (cyanide-eliminating) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables demethylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables demethylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glutathione binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables oxidoreductase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cobalamin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cobalamin metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in demethylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glutathione metabolic 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
    		  
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cyanocobalamin reductase / alkylcobalamin dealkylase
    Names
    methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
    NP_001101432.1
    XP_038965921.1

    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.

    mRNA and Protein(s)

    1. NM_001107962.1 → NP_001101432.1  cyanocobalamin reductase / alkylcobalamin dealkylase

      See identical proteins and their annotated locations for NP_001101432.1

      Status: PROVISIONAL

      Source sequence(s)
      CH474008
      UniProtKB/TrEMBL
      A6JZ90, D4A729
      Related
      ENSRNOP00000023178.3, ENSRNOT00000023178.6
      Conserved Domains (1) summary
      pfam16690
      Location:20 → 234
      MMACHC; Methylmalonic aciduria and homocystinuria type C family

    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_086023.1 Reference GRCr8

      Range
      135403094..135409285 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039109993.2 → XP_038965921.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X1

      Conserved Domains (1) summary
      cl17166
      Location:20 → 144
      MMACHC-like; Methylmalonic aciduria and homocystinuria type C protein and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version

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