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Mmachc methylmalonic aciduria cblC type, with homocystinuria [ Mus musculus (house mouse) ]

Gene ID: 67096, updated on 9-Dec-2024

Summary

Official Symbol
Mmachcprovided by MGI
Official Full Name
methylmalonic aciduria cblC type, with homocystinuriaprovided by MGI
Primary source
MGI:MGI:1914346
See related
Ensembl:ENSMUSG00000028690 AllianceGenome:MGI:1914346
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
CblC; 1810037K07Rik
Summary
Predicted to enable several functions, including anion binding activity; cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity; and protein homodimerization activity. Predicted to be involved in cobalamin metabolic process; demethylation; and glutathione metabolic process. Located in mitochondrion. Is expressed in several structures, including embryo ectoderm; gut; heart; lung; and mesonephros mesenchyme. Used to study methylmalonic aciduria and homocystinuria type cblC. 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, Dec 2024]
Expression
Ubiquitous expression in heart adult (RPKM 27.1), testis adult (RPKM 12.8) and 27 other tissues See more
Orthologs
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Genomic context

See Mmachc in Genome Data Viewer
Location:
4 D1; 4 53.29 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (116559631..116565582, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (116702434..116708385, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 25137 Neighboring gene expressed sequence AV051173 Neighboring gene peroxiredoxin 1 Neighboring gene STARR-positive B cell enhancer ABC_E9593 Neighboring gene STARR-positive B cell enhancer ABC_E2706 Neighboring gene coiled-coil domain containing 163 Neighboring gene STARR-positive B cell enhancer ABC_E37 Neighboring gene STARR-seq mESC enhancer starr_11147 Neighboring gene testis-specific kinase 2 Neighboring gene STARR-seq mESC enhancer starr_11148 Neighboring gene STARR-seq mESC enhancer starr_11149 Neighboring gene STARR-positive B cell enhancers ABC_E11715 and ABC_E10249 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:116480418-116480527 Neighboring gene target of EGR1, member 1 (nuclear) Neighboring gene mutY DNA glycosylase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables FAD binding  
enables FAD binding  
enables FAD binding  
enables cobalamin binding  
enables cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity  
enables cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity PubMed 
enables cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity  
enables demethylase activity  
enables demethylase activity  
enables demethylase activity  
enables glutathione binding  
enables glutathione binding  
enables oxidoreductase activity PubMed 
enables oxidoreductase activity  
enables protein homodimerization activity  
enables protein homodimerization activity  
enables transferase activity  
Process Evidence Code Pubs
involved_in cobalamin metabolic process  
involved_in cobalamin metabolic process PubMed 
involved_in cobalamin metabolic process  
involved_in demethylation  
involved_in demethylation  
involved_in glutathione metabolic process  
involved_in glutathione metabolic process  
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytoplasm  
is_active_in cytosol PubMed 
located_in mitochondrion PubMed 

General protein information

Preferred Names
cyanocobalamin reductase / alkylcobalamin dealkylase
Names
alkylcobalamin:glutathione S-alkyltransferase
cyanocobalamin reductase (cyanide-eliminating)
methylmalonic aciduria and homocystinuria type C protein homolog
NP_080238.2

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_025962.3NP_080238.2  cyanocobalamin reductase / alkylcobalamin dealkylase

    See identical proteins and their annotated locations for NP_080238.2

    Status: VALIDATED

    Source sequence(s)
    BB614283, BC054756
    Consensus CDS
    CCDS51278.1
    UniProtKB/Swiss-Prot
    Q9CZD0, Q9D8S7
    Related
    ENSMUSP00000030453.5, ENSMUST00000030453.5
    Conserved Domains (1) summary
    pfam16690
    Location:20234
    MMACHC; Methylmalonic aciduria and homocystinuria type C family

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_000070.7 Reference GRCm39 C57BL/6J

    Range
    116559631..116565582 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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