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

    Gene ID: 109129, updated on 23-Jun-2021

    Summary

    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
    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; AI314967; 2010311D03Rik
    Expression
    Ubiquitous expression in testis adult (RPKM 48.1), CNS E11.5 (RPKM 24.9) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Mmadhc in Genome Data Viewer
    Location:
    2; 2 C1.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (50135401..50152197, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene LY6/PLAUR domain containing 6B Neighboring gene LY6/PLAUR domain containing 6 Neighboring gene predicted gene 13483 Neighboring gene predicted gene 48908 Neighboring gene TATA box binding protein (Tbp)-associated factor, RNA polymerase I, D pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    involved_in cobalamin metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001348198.1NP_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:1232
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein
    2. NM_001348199.1NP_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:1232
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein
    3. NM_001348200.1NP_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:1171
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein
    4. NM_133839.3NP_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:24293
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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_006497598.2XP_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:24293
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein
    2. XM_017314908.2XP_017170397.1  cobalamin trafficking protein CblD isoform X4

      Conserved Domains (1) summary
      pfam10229
      Location:1232
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein
    3. XM_011239002.3XP_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:1232
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein
    4. XM_006497596.5XP_006497659.1  cobalamin trafficking protein CblD isoform X1

      Conserved Domains (1) summary
      pfam10229
      Location:131400
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein
    5. XM_006497597.5XP_006497660.1  cobalamin trafficking protein CblD isoform X2

      Conserved Domains (1) summary
      pfam10229
      Location:131339
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein
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