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    mmad-1 Methylmalonic aciduria and homocystinuria type D homolog, mitochondrial [ Caenorhabditis elegans ]

    Gene ID: 176786, updated on 9-Dec-2024

    Summary

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    Official Symbol
    mmad-1
    Official Full Name
    Methylmalonic aciduria and homocystinuria type D homolog, mitochondrial
    Primary source
    WormBase:WBGene00013577
    Locus tag
    CELE_Y76A2B.5
    See related
    AllianceGenome:WB:WBGene00013577
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Predicted to be involved in cobalamin metabolic process. Predicted to be active in mitochondrion. Is expressed in body wall musculature. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblD. Orthologous to human MMADHC (metabolism of cobalamin associated D). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See mmad-1 in Genome Data Viewer
    Location:
    chromosome: III
    Exon count:
    6
    Sequence:
    Chromosome: III; NC_003281.10 (13546889..13549005, complement)

    Chromosome III - NC_003281.10Genomic Context describing neighboring genes Neighboring gene Long-chain-fatty-acid--CoA ligase Neighboring gene Uncharacterized protein Neighboring gene SCAVenger receptor (CD36 family) related Neighboring gene F-box associated domain-containing protein

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003281.10

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Identification of genes that protect the C. elegans genome against mutations by genome-wide RNAi. Pothof J, et al. Genes Dev, 2003 Feb 15. PMID 12600937, Free PMC Article
    2. Depletion of endogenously biotinylated carboxylases enhances the sensitivity of TurboID-mediated proximity labeling in Caenorhabditis elegans. Artan M, et al. J Biol Chem, 2022 Sep. PMID 35933017, Free PMC Article
    3. Interactome analysis of Caenorhabditis elegans synapses by TurboID-based proximity labeling. Artan M, et al. J Biol Chem, 2021 Sep. PMID 34416233, Free PMC Article
    4. Novel LOTUS-domain proteins are organizational hubs that recruit C. elegans Vasa to germ granules. Cipriani PG, et al. Elife, 2021 Jul 5. PMID 34223818, Free PMC Article
    5. A map of the interactome network of the metazoan C. elegans. Li S, et al. Science, 2004 Jan 23. PMID 14704431, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Process Evidence Code Pubs
    involved_in cobalamin metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    Methylmalonic aciduria and homocystinuria type D homolog, mitochondrial
    NP_499801.1
    • Partially confirmed by transcript evidence

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_003281.10 Reference assembly

      Range
      13546889..13549005 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_067400.12 → NP_499801.1  Methylmalonic aciduria and homocystinuria type D homolog, mitochondrial [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_499801.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9XWC9
      Conserved Domains (1) summary
      pfam10229
      Location:5 → 274
      DUF2246; Uncharacterized conserved protein (DUF2246)
    Nucleotide Protein
    Heading Accession and Version

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