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    Mmab methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human) [ Mus musculus (house mouse) ]

    Gene ID: 77697, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Mmabprovided by MGI
    Official Full Name
    methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human)provided by MGI
    Primary source
    MGI:MGI:1924947
    See related
    Ensembl:ENSMUSG00000029575 AllianceGenome:MGI:1924947
    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
    ATR; 9130222L19Rik
    Summary
    Predicted to enable cobalamin binding activity and corrinoid adenosyltransferase activity. Predicted to be involved in cobalamin metabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; cardiovascular system; lung; nervous system; and trophectoderm. Human ortholog(s) of this gene implicated in inherited metabolic disorder and methylmalonic acidemia cblB type. Orthologous to human MMAB (metabolism of cobalamin associated B). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 11.8), adrenal adult (RPKM 10.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mmab in Genome Data Viewer
    Location:
    5 F; 5 55.99 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (114569095..114582134, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (114431034..114444073, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene myosin 1H Neighboring gene potassium channel tetramerisation domain containing 10 Neighboring gene ubiquitin protein ligase E3B Neighboring gene microRNA 7027 Neighboring gene STARR-positive B cell enhancer ABC_E278 Neighboring gene mevalonate kinase Neighboring gene predicted gene, 34722

    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 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. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Dobson CM, et al. Hum Mol Genet, 2002 Dec 15. PMID 12471062
    2. The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis. Moreno-Garcia MA, et al. Mol Genet Metab, 2012 Nov. PMID 23022071
    3. Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant. Leal NA, et al. J Biol Chem, 2003 Mar 14. PMID 12514191
    4. The interactome of intact mitochondria by cross-linking mass spectrometry provides evidence for coexisting respiratory supercomplexes. Liu F, et al. Mol Cell Proteomics, 2018 Feb. PMID 29222160, Free PMC Article
    5. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The mouse methylmalonic aciduria- related genes, Mmaa, Mmab, and Mut may have specialized functions depending on the tissue or cell type.
      Title: The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues 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 (2) 
    • Targeted (2) 

    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 ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cobalamin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cobalamin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables corrinoid adenosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables corrinoid adenosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables transferase activity, transferring alkyl or aryl (other than methyl) groups ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity, transferring alkyl or aryl (other than methyl) groups ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cobalamin metabolic process IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in cobalamin metabolic process IC
    Inferred by Curator
    more info
    		 PubMed 
    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 mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    corrinoid adenosyltransferase MMAB
    Names
    ATP:co(I)rrinoid adenosyltransferase MMAB
    ATP:cob(I)alamin adenosyltransferase
    cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
    cob(II)alamin adenosyltransferase
    cob(II)yrinic acid a,c-diamide adenosyltransferase
    cobinamide/cobalamin adenosyltransferase
    corrinoid adenosyltransferase
    methylmalonic aciduria (cobalamin deficiency) type B homolog
    NP_001334327.1
    NP_084232.1
    XP_030110764.1

    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_001347398.1 → NP_001334327.1  corrinoid adenosyltransferase MMAB isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate coding exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC132102
      Consensus CDS
      CCDS84938.1
      UniProtKB/TrEMBL
      D3Z1G7
      Related
      ENSMUSP00000107864.2, ENSMUST00000112245.6

    2. NM_029956.4 → NP_084232.1  corrinoid adenosyltransferase MMAB isoform 1 precursor

      See identical proteins and their annotated locations for NP_084232.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC057558
      Consensus CDS
      CCDS19565.1
      UniProtKB/Swiss-Prot
      Q3UFL6, Q8CBZ0, Q8VBZ4, Q9D273
      Related
      ENSMUSP00000031560.8, ENSMUST00000031560.14
      Conserved Domains (1) summary
      pfam01923
      Location:53 → 221
      Cob_adeno_trans; Cobalamin adenosyltransferase

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      114569095..114582134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030254904.1 → XP_030110764.1  corrinoid adenosyltransferase MMAB isoform X1

      Conserved Domains (1) summary
      pfam01923
      Location:52 → 110
      Cob_adeno_trans; Cobalamin adenosyltransferase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D273.1 GenPept UniProtKB/Swiss-Prot:Q9D273

    Gene LinkOut

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