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

Summary

Official Symbol: Mmachcprovided by RGD
Official Full Name: metabolism of cobalamin associated Cprovided by RGD
Primary source: RGD:1310806
See related: EnsemblRapid: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) (NADP+) activity; and protein homodimerization activity. Predicted to be involved in cobalamin metabolic process; demethylation; and glutathione metabolic process. Predicted to be active in cytosol. 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: 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

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_086023.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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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) (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
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
enables transferase activity, transferring alkyl or aryl (other than methyl) groups	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

EC 1.16.1.6

EC 2.5.1.151

XP_038965921.1

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_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, ENSRNOT00000023178.7

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

NC_086023.1 Reference GRCr8

Range

135403094..135409285 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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