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    MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria [ Gallus gallus (chicken) ]

    Gene ID: 424597, updated on 3-Dec-2024

    Summary

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    Symbol
    MMACHCprovided by CGNC
    Full Name
    methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuriaprovided by CGNC
    Primary source
    CGNC:7788
    See related
    Ensembl:ENSGALG00010026115
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Gallus gallus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Phasianinae; Gallus
    Also known as
    CblC
    Orthologs
    human mouse all
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    Genomic context

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    See MMACHC in Genome Data Viewer
    Location:
    chromosome: 8
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    106 current bGalGal1.mat.broiler.GRCg7b (GCF_016699485.2) 8 NC_052539.1 (20825439..20831098)
    106 current bGalGal1.pat.whiteleghornlayer.GRCg7w (GCF_016700215.2) 8 NC_052580.1 (20834743..20840417)

    Chromosome 8 - NC_052539.1Genomic Context describing neighboring genes Neighboring gene testis associated actin remodelling kinase 2 Neighboring gene mucin-5B-like Neighboring gene peroxiredoxin 1 Neighboring gene uncharacterized LOC112532877 Neighboring gene aldo-keto reductase family 1 member A1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Full-length cDNAs from chicken bursal lymphocytes to facilitate gene function analysis. Caldwell RB, et al. Genome Biol, 2005. PMID 15642098, Free PMC Article
    2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article
    3. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    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

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    Preferred Names
    cyanocobalamin reductase / alkylcobalamin dealkylase
    Names
    alkylcobalamin:glutathione S-alkyltransferase
    cyanocobalamin reductase (cyanide-eliminating)
    methylmalonic aciduria and homocystinuria type C protein homolog
    NP_001026452.2
    XP_046778754.1

    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_001031281.2 → NP_001026452.2  cyanocobalamin reductase / alkylcobalamin dealkylase

      Status: PROVISIONAL

      Source sequence(s)
      JAENSK010000239
      UniProtKB/Swiss-Prot
      Q5ZL21
      Related
      ENSGALP00010039274.1, ENSGALT00010063623.1
      Conserved Domains (1) summary
      cd12959
      Location:4 → 227
      MMACHC-like; Methylmalonic aciduria and homocystinuria type C protein and similar proteins

    RefSeqs of Annotated Genomes: Gallus gallus 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 bGalGal1.mat.broiler.GRCg7b Primary Assembly

    Genomic

    1. NC_052539.1 Reference bGalGal1.mat.broiler.GRCg7b Primary Assembly

      Range
      20825439..20831098
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate bGalGal1.pat.whiteleghornlayer.GRCg7w

    Genomic

    1. NC_052580.1 Alternate bGalGal1.pat.whiteleghornlayer.GRCg7w

      Range
      20834743..20840417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_046922798.1 → XP_046778754.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X1

      UniProtKB/Swiss-Prot
      Q5ZL21
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5ZL21.1 GenPept UniProtKB/Swiss-Prot:Q5ZL21

    Gene LinkOut

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