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    Mmaa metabolism of cobalamin associated A [ Rattus norvegicus (Norway rat) ]

    Gene ID: 291939, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mmaaprovided by RGD
    Official Full Name
    metabolism of cobalamin associated Aprovided by RGD
    Primary source
    RGD:1305035
    See related
    EnsemblRapid:ENSRNOG00000011618 AllianceGenome:RGD:1305035
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable GTP binding activity; GTPase activity; and protein homodimerization activity. Predicted to be involved in cobalamin metabolic process. Predicted to be located in cytosol and mitochondrion. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in methylmalonic acidemia cblA type. Orthologous to human MMAA (metabolism of cobalamin associated A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 33.3), Heart (RPKM 30.7) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Mmaa in Genome Data Viewer
    Location:
    19q11
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 19 NC_086037.1 (45523352..45553602)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 19 NC_051354.1 (28619060..28649319)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 19 NC_005118.4 (32294087..32325927)

    Chromosome 19 - NC_086037.1Genomic Context describing neighboring genes Neighboring gene SMAD family member 1 Neighboring gene uncharacterized LOC134483339 Neighboring gene uncharacterized LOC102550010 Neighboring gene similar to human chromosome 4 open reading frame 51 Neighboring gene zinc finger protein 827

    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. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Lerner-Ellis JP, et al. Hum Mutat, 2004 Dec. PMID 15523652
    2. Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. Froese DS, et al. J Biol Chem, 2010 Dec 3. PMID 20876572, Free PMC Article
    3. Allosteric Regulation of Oligomerization by a B(12) Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria. Ruetz M, et al. Cell Chem Biol, 2019 Jul 18. PMID 31056463, Free PMC Article
    4. Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. Plessl T, et al. Hum Mutat, 2017 Aug. PMID 28497574
    5. 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

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cobalamin metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    methylmalonic aciduria type A protein, mitochondrial
    Names
    methylmalonic aciduria (cobalamin deficiency) cblA 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_001389261.1 → NP_001376190.1  methylmalonic aciduria type A protein, mitochondrial

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000019
      UniProtKB/TrEMBL
      A6IYI5, D3ZNY3
      Related
      ENSRNOP00000015508.4, ENSRNOT00000015508.7
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    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_086037.1 Reference GRCr8

      Range
      45523352..45553602
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017601211.3 → XP_017456700.1  methylmalonic aciduria type A protein, mitochondrial isoform X1

      Conserved Domains (1) summary
      PRK09435
      Location:83 → 424
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    2. XM_063277878.1 → XP_063133948.1  methylmalonic aciduria type A protein, mitochondrial isoform X1

      Related
      ENSRNOP00000106993.1, ENSRNOT00000143506.1

    3. XM_063277879.1 → XP_063133949.1  methylmalonic aciduria type A protein, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A6IYI5, D3ZNY3

    4. XM_039097580.2 → XP_038953508.1  methylmalonic aciduria type A protein, mitochondrial isoform X1

      Conserved Domains (1) summary
      PRK09435
      Location:83 → 424
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    5. XM_039097581.2 → XP_038953509.1  methylmalonic aciduria type A protein, mitochondrial isoform X1

      Conserved Domains (1) summary
      PRK09435
      Location:83 → 424
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    6. XM_039097582.2 → XP_038953510.1  methylmalonic aciduria type A protein, mitochondrial isoform X3

      Conserved Domains (1) summary
      cl38936
      Location:1 → 262
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    7. XM_039097584.2 → XP_038953512.1  methylmalonic aciduria type A protein, mitochondrial isoform X4

      Conserved Domains (1) summary
      cl38936
      Location:1 → 231
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001106174.1: Suppressed sequence

      Description
      NM_001106174.1: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein Strain
    Heading Accession and Version

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