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    mmachc metabolism of cobalamin associated C [ Danio rerio (zebrafish) ]

    Gene ID: 555267, updated on 14-Nov-2024

    Summary

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    Official Symbol
    mmachcprovided by ZNC
    Official Full Name
    metabolism of cobalamin associated Cprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030131-3167
    See related
    Ensembl:ENSDARG00000043877 AllianceGenome:ZFIN:ZDB-GENE-030131-3167
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    CblC; fc29d04; wu:fc29d04; si:zfos-47c12.1
    Summary
    Predicted to enable FAD binding activity; cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity; and demethylase activity. Acts upstream of or within embryonic viscerocranium morphogenesis. Predicted to be located in cytosol. 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, Nov 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See mmachc in Genome Data Viewer
    Location:
    chromosome: 20
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 20 NC_007131.7 (1385692..1393020)
    105 previous assembly GRCz10 (GCF_000002035.5) 20 NC_007131.6 (1364866..1372194)

    Chromosome 20 - NC_007131.7Genomic Context describing neighboring genes Neighboring gene TGF-beta activated kinase 1 (MAP3K7) binding protein 2 Neighboring gene scavenger receptor class A, member 5 (putative) Neighboring gene liver-enriched gene 1, tandem duplicate 2 Neighboring gene liver-enriched gene 1, tandem duplicate 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant. Paz D, et al. Differentiation, 2023 May-Jun. PMID 37167860, Free PMC Article
    2. Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes. Castro VL, et al. Gene, 2023 May 15. PMID 36804358, Free PMC Article
    3. Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. Quintana AM, et al. Dev Biol, 2014 Dec 1. PMID 25281006, Free PMC Article
    4. Hcfc1a regulates neural precursor proliferation and asxl1 expression in the developing brain. Castro VL, et al. BMC Neurosci, 2020 Jun 10. PMID 32522152, Free PMC Article
    5. Efficient methods for targeted mutagenesis in zebrafish using zinc-finger nucleases: data from targeting of nine genes using CompoZr or CoDA ZFNs. Sood R, et al. PLoS One, 2013. PMID 23451191, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
      Title: The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
    2. HCFC1 plays a role in craniofacial development, which is in part mediated through the regulation of MMACHC expression
      Title: Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables FAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cobalamin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables demethylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cobalamin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within embryonic viscerocranium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of chondrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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 protein homolog
    NP_001108361.2
    XP_021324095.1

    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_001114889.2 → NP_001108361.2  cyanocobalamin reductase / alkylcobalamin dealkylase

      See identical proteins and their annotated locations for NP_001108361.2

      Status: VALIDATED

      Source sequence(s)
      CR854946, EH554822
      UniProtKB/Swiss-Prot
      Q5RFU5
      Related
      ENSDARP00000117903.1, ENSDART00000145981.3
      Conserved Domains (1) summary
      pfam16690
      Location:23 → 239
      MMACHC; Methylmalonic aciduria and homocystinuria type C family

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007131.7 Reference GRCz11 Primary Assembly

      Range
      1385692..1393020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021468420.2 → XP_021324095.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X1

      UniProtKB/TrEMBL
      A0A8M9PSN9
      Conserved Domains (1) summary
      pfam16690
      Location:23 → 238
      MMACHC; Methylmalonic aciduria and homocystinuria type C family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5RFU5.2 GenPept UniProtKB/Swiss-Prot:Q5RFU5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.