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

Gene ID: 77697, updated on 5-Mar-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 cob(I)yrinic acid a,c-diamide adenosyltransferase activity and cobalamin binding 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, Apr 2022]
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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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
  • 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. 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
  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. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
  5. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article

See all (22) 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)
  • Targeted (2) 
  • 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

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 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 nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity, transferring alkyl or aryl (other than methyl) groups ISO
Inferred from Sequence Orthology
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
  
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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