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    MMACHC metabolism of cobalamin associated C [ Bos taurus (domestic cattle) ]

    Gene ID: 513433, updated on 30-Jan-2025

    Summary

    Official Symbol
    MMACHCprovided by VGNC
    Official Full Name
    metabolism of cobalamin associated Cprovided by VGNC
    Primary source
    VGNC:VGNC:57129
    See related
    BGD:BT27608; EnsemblRapid:ENSBTAG00070003906
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Bos taurus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
    Also known as
    cblC
    Orthologs
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    Genomic context

    See MMACHC in Genome Data Viewer
    Location:
    chromosome: 3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_12 current ARS-UCD2.0 (GCF_002263795.3) 3 NC_037330.1 (100566188..100571190, complement)

    Chromosome 3 - NC_037330.1Genomic Context describing neighboring genes Neighboring gene large ribosomal subunit protein uL22-like Neighboring gene peroxiredoxin 1 Neighboring gene CCDC163 homolog Neighboring gene testis associated actin remodelling kinase 2 Neighboring gene BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like

    Genomic regions, transcripts, and products

    Genomic Sequence:
    NC_037330.1 Chromosome 3 Reference ARS-UCD2.0 Primary Assembly

    Expression

    • Project title: Dominette sequence data
    • BioProject: PRJNA294306
    • Analysis date: Tue Dec 17 08:57:05 2024

    Bibliography

    General gene information

    Clone Names

    • MGC134307, DKFZp564I122

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables FAD binding IEA
    Inferred from Electronic Annotation
    more info
    PubMed 
    enables cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
    PubMed 
    enables demethylase activity IEA
    Inferred from Electronic Annotation
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cobalamin metabolic process IEA
    Inferred from Electronic Annotation
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    PubMed 

    General protein information

    Preferred Names
    cyanocobalamin reductase / alkylcobalamin dealkylase
    Names
    alkylcobalamin:glutathione S-alkyltransferase
    cyanocobalamin reductase (cyanide-eliminating)
    methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
    methylmalonic aciduria and homocystinuria type C homolog
    methylmalonic aciduria and homocystinuria type C protein homolog
    NP_001015588.2

    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_001015588.3NP_001015588.2  cyanocobalamin reductase / alkylcobalamin dealkylase

      See identical proteins and their annotated locations for NP_001015588.2

      Status: PROVISIONAL

      Source sequence(s)
      BC110137
      UniProtKB/TrEMBL
      A0AAF6Z3C8, Q2YDN7
      Related
      ENSBTAP00070004997.1, ENSBTAT00070008875.1
      Conserved Domains (1) summary
      pfam16690
      Location:20234
      MMACHC; Methylmalonic aciduria and homocystinuria type C family

    RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2024_12

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

    Reference ARS-UCD2.0 Primary Assembly

    Genomic

    1. NC_037330.1 Reference ARS-UCD2.0 Primary Assembly

      Range
      100566188..100571190 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)