U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
methylmalonic aciduria type A homolog, mitochondrial

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous