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    Mmadhc methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [ Mus musculus (house mouse) ]

    Gene ID: 109129, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mmadhcprovided by MGI
    Official Full Name
    methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuriaprovided by MGI
    Primary source
    MGI:MGI:1923786
    See related
    Ensembl:ENSMUSG00000026766 AllianceGenome:MGI:1923786
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CblD; 2010311D03Rik
    Summary
    Predicted to be involved in cobalamin metabolic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol and mitochondrion. Is expressed in several structures, including embryo ectoderm; gut; head mesenchyme; mesonephros; and notochord. 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]
    Expression
    Ubiquitous expression in testis adult (RPKM 48.1), CNS E11.5 (RPKM 24.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mmadhc in Genome Data Viewer
    Location:
    2 C1.1; 2 28.92 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (50169893..50189033, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (50279881..50299021, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_04444 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:49672814-49673015 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:49703331-49703484 Neighboring gene LY6/PLAUR domain containing 6B Neighboring gene STARR-seq mESC enhancer starr_04445 Neighboring gene LY6/PLAUR domain containing 6 Neighboring gene STARR-positive B cell enhancer ABC_E5915 Neighboring gene STARR-positive B cell enhancer ABC_E9514 Neighboring gene STARR-seq mESC enhancer starr_04449 Neighboring gene predicted gene 13483 Neighboring gene predicted gene 48908 Neighboring gene STARR-seq mESC enhancer starr_04450 Neighboring gene TATA box binding protein (Tbp)-associated factor, RNA polymerase I, D pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. An Interprotein Co-S Coordination Complex in the B(12)-Trafficking Pathway. Li Z, et al. J Am Chem Soc, 2020 Sep 23. PMID 32871076, Free PMC Article
    2. Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. Stucki M, et al. Hum Mol Genet, 2012 Mar 15. PMID 22156578
    3. Expression of Mmachc and Mmadhc during mouse organogenesis. Pupavac M, et al. Mol Genet Metab, 2011 Aug. PMID 21536470
    4. Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. Mah W, et al. Mol Genet Metab, 2013 Feb. PMID 23270877
    5. Identification of an Alternative Splicing Product of the Otx2 Gene Expressed in the Neural Retina and Retinal Pigmented Epithelial Cells. Kole C, et al. PLoS One, 2016. PMID 26985665, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. During organogenesis Mmachc and Mmadhc may interact in only a subset of cells.
      Title: Expression of Mmachc and Mmadhc during mouse organogenesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Pathways from PubChem

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    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 MGI

    Function Evidence Code Pubs
    enables molecular carrier activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cobalamin metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in cobalamin metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cobalamin trafficking protein CblD
    Names
    methylmalonic aciduria and homocystinuria type D homolog, mitochondrial

    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_001348198.1 → NP_001335127.1  cobalamin trafficking protein CblD isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' region and initiates translation at a downstream start site compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AL845157, BM946822, CJ311197, CX206949, FO712453
      Conserved Domains (1) summary
      pfam10229
      Location:1 → 232
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein

    2. NM_001348199.1 → NP_001335128.1  cobalamin trafficking protein CblD isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' region and initiates translation at a downstream start site compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AL845157, BM946822, BY162490, CJ311197, FO712453
      Conserved Domains (1) summary
      pfam10229
      Location:1 → 232
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein

    3. NM_001348200.1 → NP_001335129.1  cobalamin trafficking protein CblD isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' region and an alternate exon in the 3' region, and initiates translation at a downstream start site compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL845157, BM946822, BY162490, CJ311197, FO712453
      Related
      ENSMUST00000147345.8
      Conserved Domains (1) summary
      pfam10229
      Location:1 → 171
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein

    4. NM_133839.3 → NP_598600.1  cobalamin trafficking protein CblD isoform 1

      See identical proteins and their annotated locations for NP_598600.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BM946822, BY135511, CJ311197, FO712453
      Consensus CDS
      CCDS16027.1
      UniProtKB/Swiss-Prot
      Q99LS1
      Related
      ENSMUSP00000099830.5, ENSMUST00000102769.11
      Conserved Domains (1) summary
      pfam10229
      Location:24 → 293
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      50169893..50189033 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497598.2 → XP_006497661.1  cobalamin trafficking protein CblD isoform X3

      See identical proteins and their annotated locations for XP_006497661.1

      UniProtKB/Swiss-Prot
      Q99LS1
      Conserved Domains (1) summary
      pfam10229
      Location:24 → 293
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein

    2. XM_017314908.2 → XP_017170397.1  cobalamin trafficking protein CblD isoform X4

      Conserved Domains (1) summary
      pfam10229
      Location:1 → 232
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein

    3. XM_011239002.3 → XP_011237304.1  cobalamin trafficking protein CblD isoform X4

      See identical proteins and their annotated locations for XP_011237304.1

      Conserved Domains (1) summary
      pfam10229
      Location:1 → 232
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein

    4. XM_006497596.5 → XP_006497659.1  cobalamin trafficking protein CblD isoform X1

      Conserved Domains (1) summary
      pfam10229
      Location:131 → 400
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein

    5. XM_006497597.5 → XP_006497660.1  cobalamin trafficking protein CblD isoform X2

      Conserved Domains (1) summary
      pfam10229
      Location:131 → 339
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99LS1.1 GenPept UniProtKB/Swiss-Prot:Q99LS1

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