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Mmachc metabolism of cobalamin associated C [ Rattus norvegicus (Norway rat) ]

Gene ID: 313520, updated on 5-Mar-2024

Summary

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Official Symbol
Mmachcprovided by RGD
Official Full Name
metabolism of cobalamin associated Cprovided by RGD
Primary source
RGD:1310806
See related
Ensembl:ENSRNOG00000017233 AllianceGenome:RGD:1310806
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
RGD1310806
Summary
Predicted to enable several functions, including anion binding activity; cyanocobalamin reductase (cyanide-eliminating) activity; and protein homodimerization activity. Predicted to be involved in cobalamin metabolic process; demethylation; and glutathione metabolic process. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblC. Orthologous to human MMACHC (metabolism of cobalamin associated C). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Heart (RPKM 154.9), Muscle (RPKM 100.9) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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Location:
5q35
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (135403094..135409285, complement)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (130166056..130172735, complement)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (135555587..135561723, complement)

Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member A1 Neighboring gene uncharacterized LOC134486971 Neighboring gene peroxiredoxin 1 Neighboring gene coiled-coil domain containing 163 Neighboring gene testis associated actin remodelling kinase 2 Neighboring gene ribosomal protein S26 like 4 Neighboring gene target of EGR1, exonuclease Neighboring gene mutY DNA glycosylase

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. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. Froese DS, et al. Mol Genet Metab, 2009 Dec. PMID 19700356
  2. Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function. Froese DS, et al. Biochemistry, 2012 Jun 26. PMID 22642810
  3. A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins. Kim J, et al. J Biol Chem, 2009 Nov 27. PMID 19801555, Free PMC Article
  4. Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Fofou-Caillierez MB, et al. Hum Mol Genet, 2013 Nov 15. PMID 23825108
  5. Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. Mah W, et al. Mol Genet Metab, 2013 Feb. PMID 23270877

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables FAD binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables FAD binding ISO
Inferred from Sequence Orthology
more info
  
enables cobalamin binding IEA
Inferred from Electronic Annotation
more info
  
enables cyanocobalamin reductase (cyanide-eliminating) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cyanocobalamin reductase (cyanide-eliminating) activity ISO
Inferred from Sequence Orthology
more info
  
enables demethylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables demethylase activity ISO
Inferred from Sequence Orthology
more info
  
enables glutathione binding ISO
Inferred from Sequence Orthology
more info
  
enables oxidoreductase activity ISO
Inferred from Sequence Orthology
more info
  
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in cobalamin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cobalamin metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in demethylation ISO
Inferred from Sequence Orthology
more info
  
involved_in glutathione 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
  
is_active_in cytosol ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
cyanocobalamin reductase / alkylcobalamin dealkylase
Names
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
NP_001101432.1
XP_038965921.1

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_001107962.1 → NP_001101432.1  cyanocobalamin reductase / alkylcobalamin dealkylase

    See identical proteins and their annotated locations for NP_001101432.1

    Status: PROVISIONAL

    Source sequence(s)
    CH474008
    UniProtKB/TrEMBL
    A6JZ90, D4A729
    Related
    ENSRNOP00000023178.3, ENSRNOT00000023178.6
    Conserved Domains (1) summary
    pfam16690
    Location:20 → 234
    MMACHC; Methylmalonic aciduria and homocystinuria type C family

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_086023.1 Reference GRCr8

    Range
    135403094..135409285 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039109993.2 → XP_038965921.1  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X1

    Conserved Domains (1) summary
    cl17166
    Location:20 → 144
    MMACHC-like; Methylmalonic aciduria and homocystinuria type C protein and similar proteins
Nucleotide Protein Strain
Heading Accession and Version

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