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    MMACHC metabolism of cobalamin associated C [ Canis lupus familiaris (dog) ]

    Gene ID: 482514, updated on 5-Mar-2024

    Summary

    Official Symbol
    MMACHCprovided by VGNC
    Official Full Name
    metabolism of cobalamin associated Cprovided by VGNC
    Primary source
    VGNC:VGNC:108229
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Canis lupus familiaris (sub-species: familiaris)
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
    Orthologs
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    Genomic context

    See MMACHC in Genome Data Viewer
    Location:
    chromosome: 15
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    106 current ROS_Cfam_1.0 (GCF_014441545.1) 15 NC_051819.1 (15012610..15018557, complement)
    106 current Dog10K_Boxer_Tasha (GCF_000002285.5) 15 NC_006597.4 (14978374..14984360, complement)
    106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) 15 NC_049236.1 (14949428..14955416, complement)
    106 current UMICH_Zoey_3.1 (GCF_005444595.1) 15 NC_049275.1 (14809847..14815842, complement)
    106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) 15 NC_049756.1 (14877398..14883398, complement)

    Chromosome 15 - NC_051819.1Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member A1 Neighboring gene peroxiredoxin 1 Neighboring gene CCDC163 homolog Neighboring gene testis associated actin remodelling kinase 2 Neighboring gene 60S ribosomal protein L36-like

    Genomic regions, transcripts, and products

    General gene information

    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) 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
    methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

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

    Reference ROS_Cfam_1.0

    Genomic

    1. NC_051819.1 Reference ROS_Cfam_1.0

      Range
      15012610..15018557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_038687849.1XP_038543777.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X2

      UniProtKB/TrEMBL
      A0A8C0KW24
      Conserved Domains (1) summary
      pfam16690
      Location:13193
      MMACHC; Methylmalonic aciduria and homocystinuria type C family
    2. XM_038687848.1XP_038543776.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X1

      UniProtKB/TrEMBL
      A0A8C0Z170
      Conserved Domains (1) summary
      pfam16690
      Location:20234
      MMACHC; Methylmalonic aciduria and homocystinuria type C family

    Alternate UMICH_Zoey_3.1

    Genomic

    1. NC_049275.1 Alternate UMICH_Zoey_3.1

      Range
      14809847..14815842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_038495849.1XP_038351777.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X2

      Conserved Domains (1) summary
      pfam16690
      Location:13193
      MMACHC; Methylmalonic aciduria and homocystinuria type C family
    2. XM_038495848.1XP_038351776.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X1

      Conserved Domains (1) summary
      pfam16690
      Location:20234
      MMACHC; Methylmalonic aciduria and homocystinuria type C family

    Alternate UNSW_CanFamBas_1.0

    Genomic

    1. NC_049756.1 Alternate UNSW_CanFamBas_1.0

      Range
      14877398..14883398 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_038622108.1XP_038478036.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X2

      Conserved Domains (1) summary
      pfam16690
      Location:13193
      MMACHC; Methylmalonic aciduria and homocystinuria type C family
    2. XM_038622106.1XP_038478034.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X1

      Conserved Domains (1) summary
      pfam16690
      Location:20234
      MMACHC; Methylmalonic aciduria and homocystinuria type C family

    Alternate UU_Cfam_GSD_1.0

    Genomic

    1. NC_049236.1 Alternate UU_Cfam_GSD_1.0

      Range
      14949428..14955416 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_038558232.1XP_038414160.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X2

      UniProtKB/TrEMBL
      A0A8C0KW24
      Conserved Domains (1) summary
      pfam16690
      Location:13193
      MMACHC; Methylmalonic aciduria and homocystinuria type C family
    2. XM_038558231.1XP_038414159.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X1

      UniProtKB/TrEMBL
      A0A8C0Z170
      Conserved Domains (1) summary
      pfam16690
      Location:20234
      MMACHC; Methylmalonic aciduria and homocystinuria type C family

    Alternate Dog10K_Boxer_Tasha Primary Assembly

    Genomic

    1. NC_006597.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

      Range
      14978374..14984360 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005629059.4XP_005629116.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X2

      UniProtKB/TrEMBL
      A0A8C0KW24
      Conserved Domains (1) summary
      pfam16690
      Location:13193
      MMACHC; Methylmalonic aciduria and homocystinuria type C family
    2. XM_539631.7XP_539631.2  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X1

      UniProtKB/TrEMBL
      A0A8C0Z170
      Conserved Domains (1) summary
      pfam16690
      Location:20234
      MMACHC; Methylmalonic aciduria and homocystinuria type C family