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

Gene ID: 291939, updated on 2-Nov-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, Nov 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 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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