|  Help  |  About  |  Contact Us

Search our database by keyword

Examples

  • Search this entire website. Enter identifiers, names or keywords for genes, diseases, strains, ontology terms, etc. (e.g. Pax6, Parkinson, ataxia)
  • Use OR to search for either of two terms (e.g. OR mus) or quotation marks to search for phrases (e.g. "dna binding").
  • Boolean search syntax is supported: e.g. Balb* for partial matches or mus AND NOT embryo to exclude a term

Search results 1 to 98 out of 98 for Mmachc

0.02s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Danio rerio
Protein Domain
Type: Family
Description: MMACHC, also known as Cyanocobalamin reductase / alkylcobalamin dealkylase, is involved in the intracellular processing of vitamin B12 by catalyzing two reactions: the reductive decyanation of cyanocobalamin in the presence of a flavoprotein oxidoreductase and the dealkylation of alkylcobalamins through the nucleophilic displacement of the alkyl group by glutathione [, ]. Mutations in the MMACHC gene have been linked to a disease known as Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), the most common inborn error of vitamin B(12) (cobalamin) metabolism. The C-terminal region of this protein folds similarly to TonB, a bacterial protein involved in energy transduction for cobalamin uptake [].The structure of MMACHC reveals it to be the most divergent member of the NADPH-dependent flavin reductase family that can use FMN or FAD to catalyze reductive decyanation; it is also the first enzyme with glutathione transferase (GST) activity that is unrelated to the GST superfamily in structure and sequence [].
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication
First Author: Pupavac M
Year: 2011
Journal: Mol Genet Metab
Title: Expression of Mmachc and Mmadhc during mouse organogenesis.
Volume: 103
Issue: 4
Pages: 401-5
Protein
Organism: Mus musculus
Length: 279  
Fragment?: false
Publication
First Author: Moreno-Garcia MA
Year: 2014
Journal: Mol Genet Metab
Title: The Mmachc gene is required for pre-implantation embryogenesis in the mouse.
Volume: 112
Issue: 3
Pages: 198-204
Publication
First Author: Koutmos M
Year: 2011
Journal: J Biol Chem
Title: Structural basis of multifunctionality in a vitamin B12-processing enzyme.
Volume: 286
Issue: 34
Pages: 29780-7
Publication
First Author: Lerner-Ellis JP
Year: 2006
Journal: Nat Genet
Title: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Volume: 38
Issue: 1
Pages: 93-100
Publication
First Author: Kim J
Year: 2009
Journal: J Biol Chem
Title: A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins.
Volume: 284
Issue: 48
Pages: 33418-24
Publication
First Author: Kim J
Year: 2008
Journal: Proc Natl Acad Sci U S A
Title: Decyanation of vitamin B12 by a trafficking chaperone.
Volume: 105
Issue: 38
Pages: 14551-4
Publication
First Author: Chern T
Year: 2020
Journal: Dev Biol
Title: Mouse models to study the pathophysiology of combined methylmalonic acidemia and homocystinuria, cblC type.
Volume: 468
Issue: 1-2
Pages: 1-13
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3275419
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 11
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1609619
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 10
GXD Expression  
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3268819
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Note: Expression is in the trabeculated myocardium.
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672819
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1672819
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Note: Expression is in endoderm.
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1666819
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610519
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610519
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Note: Expression is in the bulbus cordis.
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:3286619
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 6
GXD Expression  
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3274319
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Note: Expression is in endothelial cells of blood vessels in the developing head, the somites and the liver.
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3274319
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Note: Expression is in endothelial cells of blood vessels in the developing head, the somites and the liver.
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1684619
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 9
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1674519
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1674519
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1616419
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1683319
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 11
GXD Expression  
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1634619
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Note: Expression is in the endocardial cushions of the outflow tract in endothelial cells.
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1654619
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Note: Expression is in endothelial cells.
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1702119
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Note: Expression is in the endoderm.
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619119
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1668819
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1609819
Pattern: Punctate
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5288052
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1625519
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5288054
Age: embryonic day 11.5
Note: Expression is in the midgut endoderm and mesenchyme.
Detected: true
Specimen Num: 7
Publication
First Author: Mu Y
Year: 2020
Journal: PLoS Genet
Title: O-linked β-N-acetylglucosamine transferase plays an essential role in heart development through regulating angiopoietin-1.
Volume: 16
Issue: 4
Pages: e1008730
Publication
First Author: Mohammed Y
Year: 2021
Journal: NPJ Syst Biol Appl
Title: Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma.
Volume: 7
Issue: 1
Pages: 25
Publication
First Author: Poché RA
Year: 2016
Journal: Cell Rep
Title: RONIN Is an Essential Transcriptional Regulator of Genes Required for Mitochondrial Function in the Developing Retina.
Volume: 14
Issue: 7
Pages: 1684-1697
Publication      
First Author: Mammalian Functional Genomics Centre
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the NorCOMM project by the Mammalian Functional Genomics Centre (Mfgc), University of Manitoba
Publication
First Author: Pagliarini DJ
Year: 2008
Journal: Cell
Title: A mitochondrial protein compendium elucidates complex I disease biology.
Volume: 134
Issue: 1
Pages: 112-23
Publication
First Author: Friedel RH
Year: 2007
Journal: Brief Funct Genomic Proteomic
Title: EUCOMM--the European conditional mouse mutagenesis program.
Volume: 6
Issue: 3
Pages: 180-5
Publication
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
Publication      
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
Publication      
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication          
First Author: MGD Nomenclature Committee
Year: 1995
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication
First Author: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Allele
Name: transgene insertion 1, Ross Poche
Allele Type: Transgenic
Attribute String: Inserted expressed sequence, Reporter
Publication categories: ProxyCollection
Strain
Attribute String: coisogenic, mutant strain, transgenic
Genotype
Symbol: Tg(CAG-Mmachc,-GFP)1Poche/?
Background: C57BL/6J-Tg(CAG-Mmachc,-GFP)1Poche
Zygosity: ot
Has Mutant Allele: true
Protein
Organism: Mus musculus
Length: 296  
Fragment?: false
Protein
Organism: Mus musculus
Length: 179  
Fragment?: true
Protein
Organism: Mus musculus
Length: 219  
Fragment?: true
Publication
First Author: Coelho D
Year: 2008
Journal: N Engl J Med
Title: Gene identification for the cblD defect of vitamin B12 metabolism.
Volume: 358
Issue: 14
Pages: 1454-64
Publication
First Author: Jusufi J
Year: 2014
Journal: J Inherit Metab Dis
Title: Characterization of functional domains of the cblD (MMADHC) gene product.
Volume: 37
Issue: 5
Pages: 841-9
Publication
First Author: Yamada K
Year: 2015
Journal: J Biol Chem
Title: Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.
Volume: 290
Issue: 49
Pages: 29155-66
Publication
First Author: Gherasim C
Year: 2013
Journal: Biochimie
Title: The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.
Volume: 95
Issue: 5
Pages: 1023-32
Protein Domain
Type: Family
Description: This entry represents methylmalonic aciduria and homocystinuria type D protein (also known as cobalamin trafficking protein CblD) and homologues. These proteins are involved in cobalamin (vitamin B12) metabolism and trafficking [, , , ]CblD plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) [, , ]. It also promotes the oxidation of cob(II)alamin bound to MMACHC [].
Publication
First Author: Dehaene H
Year: 2020
Journal: PLoS One
Title: THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation.
Volume: 15
Issue: 1
Pages: e0224646
Strain
Attribute String: transgenic, targeted mutation, mutant strain, coisogenic
Genotype
Symbol: Mmachc/Mmachc Tg(CAG-Mmachc,-GFP)1Poche/?
Background: C57BL/6-Mmachc Tg(CAG-Mmachc,-GFP)1Poche
Zygosity: cx
Has Mutant Allele: true