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    Mmadhc metabolism of cobalamin associated D [ Rattus norvegicus (Norway rat) ]

    Gene ID: 362134, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Mmadhcprovided by RGD
    Official Full Name
    metabolism of cobalamin associated Dprovided by RGD
    Primary source
    RGD:1303272
    See related
    Ensembl:ENSRNOG00000004740 AllianceGenome:RGD:1303272
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    CblD; RGD1303272
    Summary
    Predicted to be involved in cobalamin metabolic process. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. 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
    Biased expression in Kidney (RPKM 436.2), Heart (RPKM 397.7) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    3q12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (55117832..55135735, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (34708649..34726554, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (35783511..35801474, complement)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene Ly6/Plaur domain containing 6 Neighboring gene fatty acid-binding protein 5-like Neighboring gene heterogeneous nuclear ribonucleoprotein A1, pseudogene 20 Neighboring gene uncharacterized LOC102555425 Neighboring gene centrosomal protein 19, pseudogene 1 Neighboring gene uncharacterized LOC134486093 Neighboring gene uncharacterized LOC134486094

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Characterization of functional domains of the cblD (MMADHC) gene product. Jusufi J, et al. J Inherit Metab Dis, 2014 Sep. PMID 24722857
    2. 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
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC93805

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in cobalamin metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cobalamin metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    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 (cobalamin deficiency) cblD type, with homocystinuria
    methylmalonic aciduria and homocystinuria type D homolog, mitochondrial
    methylmalonic aciduria and homocystinuria, cblD type

    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_001004280.1 → NP_001004280.1  cobalamin trafficking protein CblD precursor

      See identical proteins and their annotated locations for NP_001004280.1

      Status: PROVISIONAL

      Source sequence(s)
      BC078953
      UniProtKB/Swiss-Prot
      Q6AYQ6
      UniProtKB/TrEMBL
      A6JF02
      Related
      ENSRNOP00000072504.2, ENSRNOT00000083776.2
      Conserved Domains (1) summary
      pfam10229
      Location:24 → 293
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086021.1 Reference GRCr8

      Range
      55117832..55135735 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006234158.4 → XP_006234220.2  cobalamin trafficking protein CblD isoform X1

      UniProtKB/Swiss-Prot
      Q6AYQ6
      UniProtKB/TrEMBL
      A6JF02
      Conserved Domains (1) summary
      pfam10229
      Location:24 → 293
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6AYQ6.1 GenPept UniProtKB/Swiss-Prot:Q6AYQ6

    Gene LinkOut

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

    Chemical Information
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