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

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, Nov 2024]
Expression: Ubiquitous expression in heart adult (RPKM 27.1), testis adult (RPKM 12.8) and 27 other tissues See more
Orthologs: human all
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Genomic context

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
Title: Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
Title: Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
The Mmachc gene is required for pre-implantation embryogenesis in the mouse.
Title: The Mmachc gene is required for pre-implantation embryogenesis in the mouse.
During organogenesis Mmachc and Mmadhc may interact in only a subset of cells.
Title: Expression of Mmachc and Mmadhc during mouse organogenesis.

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Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation
Gene trapped (1)
Targeted (3) 1 citation

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Mmachc (e-PCR), detects polymorphism
- UniSTS:536532

Gene Ontology Provided by MGI

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 FAD binding	ISS Inferred from Sequence or Structural Similarity more info
enables cobalamin binding	IEA Inferred from Electronic Annotation more info
enables cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	ISO Inferred from Sequence Orthology more info	PubMed
enables cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	ISS Inferred from Sequence or Structural Similarity 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 demethylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables glutathione binding	ISO Inferred from Sequence Orthology more info
enables glutathione binding	ISS Inferred from Sequence or Structural Similarity more info
enables oxidoreductase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables oxidoreductase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation 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	PubMed
involved_in cobalamin metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in demethylation	ISO Inferred from Sequence Orthology more info
involved_in demethylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in glutathione metabolic process	ISO Inferred from Sequence Orthology more info
involved_in glutathione metabolic process	ISS Inferred from Sequence or Structural Similarity 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	PubMed
located_in mitochondrion	HDA more info	PubMed

General protein information

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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

EC 1.16.1.6

EC 2.5.1.151

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)

NM_025962.3 → NP_080238.2 cyanocobalamin reductase / alkylcobalamin dealkylase

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:20 → 234

MMACHC; Methylmalonic aciduria and homocystinuria type C family