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    Mmaa methylmalonic aciduria (cobalamin deficiency) type A [ Mus musculus (house mouse) ]

    Gene ID: 109136, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Mmaaprovided by MGI
    Official Full Name
    methylmalonic aciduria (cobalamin deficiency) type Aprovided by MGI
    Primary source
    MGI:MGI:1923805
    See related
    Ensembl:ENSMUSG00000037022 AllianceGenome:MGI:1923805
    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
    2810018E08Rik
    Summary
    Predicted to enable several functions, including GTP binding activity; GTPase activity; and protein homodimerization activity. Predicted to be involved in cobalamin metabolic process. Predicted to be located in mitochondrion. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; lung; and trophectoderm. 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, Apr 2022]
    Expression
    Ubiquitous expression in cortex adult (RPKM 3.0), cerebellum adult (RPKM 2.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 C1; 8 37.51 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (79990226..80021637, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (79263597..79295002, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene zinc finger protein 827 Neighboring gene predicted gene, 30271 Neighboring gene RIKEN cDNA 1700011L22 gene Neighboring gene predicted gene, 30329 Neighboring gene predicted gene 4890 Neighboring gene STARR-positive B cell enhancer mm9_chr8:81853038-81853338 Neighboring gene SMAD family member 1

    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. 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
    2. 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
    3. A global genomic transcriptional code associated with CNS-expressed genes. Bailey PJ, et al. Exp Cell Res, 2006 Oct 1. PMID 16919269
    4. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    5. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article

    See all (19) 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) 

    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

    Clone Names

    • MGC37960

    Gene Ontology Provided by MGI

    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 hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables molecular carrier activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cobalamin metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    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 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 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_001363470.1 → NP_001350399.1  methylmalonic aciduria type A homolog, mitochondrial isoform a precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC101790
      Consensus CDS
      CCDS22436.1
      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    2. NM_001363471.1 → NP_001350400.1  methylmalonic aciduria type A homolog, mitochondrial isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (b).
      Source sequence(s)
      AC101790, AK160235
      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_001363472.1 → NP_001350401.1  methylmalonic aciduria type A homolog, mitochondrial isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (b).
      Source sequence(s)
      AC101790
      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. NM_133823.5 → NP_598584.2  methylmalonic aciduria type A homolog, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_598584.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AC101790
      Consensus CDS
      CCDS22436.1
      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Related
      ENSMUSP00000048826.3, ENSMUST00000048718.4
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      79990226..80021637 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036153715.1 → XP_036009608.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_030243236.1 → XP_030099096.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. XM_036153717.1 → XP_036009610.1  methylmalonic aciduria type A homolog, mitochondrial isoform X3

      Conserved Domains (1) summary
      cl38936
      Location:1 → 221
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. XM_036153714.1 → XP_036009607.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. XM_030243237.1 → XP_030099097.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    6. XM_036153716.1 → XP_036009609.1  methylmalonic aciduria type A homolog, mitochondrial isoform X3

      Conserved Domains (1) summary
      cl38936
      Location:1 → 221
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    7. XM_017312513.2 → XP_017168002.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    8. XM_030243235.1 → XP_030099095.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    9. XM_017312511.2 → XP_017168000.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    10. XM_017312507.2 → XP_017167996.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    11. XM_017312509.2 → XP_017167998.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    12. XM_017312510.2 → XP_017167999.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    13. XM_017312508.2 → XP_017167997.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    14. XM_030243234.1 → XP_030099094.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    15. XM_017312506.2 → XP_017167995.1  methylmalonic aciduria type A homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38936
      Location:1 → 252
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    16. XM_011248265.4 → XP_011246567.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011246567.1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    17. XM_030243233.1 → XP_030099093.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    18. XM_030243232.2 → XP_030099092.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    19. XM_036153712.1 → XP_036009605.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    20. XM_011248270.4 → XP_011246572.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011246572.1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    21. XM_006530564.5 → XP_006530627.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006530627.1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    22. XM_006530563.4 → XP_006530626.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006530626.1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    23. XM_011248266.4 → XP_011246568.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011246568.1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    24. XM_036153713.1 → XP_036009606.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    25. XM_011248264.4 → XP_011246566.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011246566.1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    26. XM_011248263.4 → XP_011246565.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011246565.1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    27. XM_011248268.4 → XP_011246570.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011246570.1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    28. XM_011248269.4 → XP_011246571.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011246571.1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    29. XM_011248261.4 → XP_011246563.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011246563.1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    30. XM_011248262.4 → XP_011246564.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011246564.1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    31. XM_011248267.4 → XP_011246569.1  methylmalonic aciduria type A homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011246569.1

      UniProtKB/Swiss-Prot
      Q8C7H1, Q8R2N3, Q8VC22
      Conserved Domains (1) summary
      PRK09435
      Location:83 → 414
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C7H1.1 GenPept UniProtKB/Swiss-Prot:Q8C7H1

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