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

Gene ID: 109129, updated on 5-Mar-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 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, Apr 2022]
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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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 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
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
  

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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