Gene: MMACHC

25974
cblC
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
protein-coding
1p34.1
Ensembl:ENSG00000132763 MIM:609831 Vega:OTTHUMG00000007742 UniprotKB:Q9Y4U1
NG_013378.1
PubMed
0   ANCO-SNPs
ND
1   
NA (AD)  NA (ND)   (Frontal_Cortex)
7.458e-1 (AD)  2.365e-1 (ND)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
GBA0.856
KAZN0.817
METTL130.817
CINP0.816
KBTBD40.815
SYT110.815
C12orf430.814
AFG3L20.813
NIPSNAP10.813
SLC27A40.812

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
CLEC2B-0.465
OR4F5-0.461
CSAG1-0.422
S100A12-0.419
OR4F29-0.418
S100A8-0.416
TNFRSF10D-0.41
HEBP2-0.403
MTRNR2L6-0.402
RAB13-0.4

Drugs/Compounds

ID Drug Name Drug Type CAS Num Status Role
DB00115CyanocobalaminSmall Molecule68-19-9Approved|NutraceuticalTarget
DB00200HydroxocobalaminSmall Molecule13422-51-0ApprovedTarget
ID Drug Name Action PubMed
C0235142,6-dinitrotoluene"2,6-dinitrotoluene affects the expression of MMACHC mRNA"21346803
D000082AcetaminophenAcetaminophen results in decreased expression of MMACHC mRNA21420995|2906747
D000082AcetaminophenAcetaminophen affects the expression of MMACHC mRNA17562736
D020106AcrylamideAcrylamide results in increased expression of MMACHC mRNA28959563
D016604Aflatoxin B1Aflatoxin B1 results in decreased expression of MMACHC mRNA22100608
D016604Aflatoxin B1Aflatoxin B1 results in decreased methylation of MMACHC gene27153756
D001564Benzo(a)pyreneBenzo(a)pyrene results in decreased expression of MMACHC mRNA21632981
D019256Cadmium ChlorideCadmium Chloride results in decreased expression of MMACHC mRNA20883709
C018021cobaltous chloridecobaltous chloride results in decreased expression of MMACHC mRNA24386269
D003300Copper[NSC 689534 binds to Copper] which results in decreased expression of MMACHC mRNA20971185
D016572CyclosporineCyclosporine results in decreased expression of MMACHC mRNA20106945|2556210
C089595cylindrospermopsincylindrospermopsin results in increased expression of MMACHC mRNA24921660
D003993Dibutyl PhthalateDibutyl Phthalate results in decreased expression of MMACHC mRNA21266533
C000944dicrotophosdicrotophos results in increased expression of MMACHC mRNA28302478
C045651epigallocatechin gallate[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of MMACHC mRNA22079256
D005020Ethyl MethanesulfonateEthyl Methanesulfonate results in decreased expression of MMACHC mRNA23649840
C069837fullerene C60fullerene C60 results in decreased expression of MMACHC mRNA19167457
D006879HydroxocobalaminHydroxocobalamin binds to MMACHC protein19700356
D015759Ionomycin[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of MMACHC mRNA25613284
C561695(+)-JQ1 compound(+)-JQ1 compound results in decreased expression of MMACHC mRNA21889194|2479639
C561695(+)-JQ1 compound(+)-JQ1 compound results in decreased expression of MMACHC mRNA25982114
D008345ManganeseManganese results in increased expression of MMACHC mRNA18284614
D008727MethotrexateMethotrexate results in increased expression of MMACHC mRNA24449571
C004925methylmercuric chloridemethylmercuric chloride results in increased expression of MMACHC mRNA23103053
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in increased expression of MMACHC mRNA26011545
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in decreased expression of MMACHC mRNA23649840
D037742Nanotubes, Carbon"Nanotubes, Carbon analog results in increased expression of MMACHC mRNA"25554681
D037742Nanotubes, Carbon"Nanotubes, Carbon results in increased expression of MMACHC mRNA"25554681
C028007nickel monoxidenickel monoxide affects the expression of MMACHC mRNA19167457
C558013NSC 689534[NSC 689534 binds to Copper] which results in decreased expression of MMACHC mRNA20971185
D010416PentachlorophenolPentachlorophenol results in increased expression of MMACHC mRNA24642059
C006253pirinixic acid[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of MMACHC mRNA19710929
C006253pirinixic acidpirinixic acid results in increased expression of MMACHC mRNA23811191
C027373potassium chromate(VI)[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of MMACHC mRNA22079256
C027373potassium chromate(VI)potassium chromate(VI) results in decreased expression of MMACHC mRNA22079256
D012822Silicon DioxideSilicon Dioxide results in decreased expression of MMACHC mRNA25351596
C017947sodium arsenitesodium arsenite results in decreased expression of MMACHC mRNA20883709
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of MMACHC mRNA24680724
D013755Tetradecanoylphorbol Acetate[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of MMACHC mRNA25613284
D014028Tobacco Smoke PollutionTobacco Smoke Pollution results in decreased expression of MMACHC mRNA22363418
C016805tris(1,3-dichloro-2-propyl)phosphate"tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of MMACHC mRNA"26179874
D014520UrethaneUrethane results in decreased expression of MMACHC mRNA28818685
D014635Valproic AcidValproic Acid results in decreased expression of MMACHC mRNA29154799
D014635Valproic AcidValproic Acid results in decreased methylation of MMACHC gene29154799
D014635Valproic AcidValproic Acid affects the expression of MMACHC mRNA17292431
C025643vinclozolinvinclozolin affects the expression of MMACHC mRNA23034163
C029297vinylidene chloridevinylidene chloride results in decreased expression of MMACHC mRNA26682919
D014805Vitamin B 12MMACHC protein mutant form results in decreased metabolism of Vitamin B 1219700356
D014805Vitamin B 12MMACHC protein results in increased metabolism of Vitamin B 1219700356
D014805Vitamin B 12Vitamin B 12 analog binds to MMACHC protein19700356
D014805Vitamin B 12Vitamin B 12 binds to MMACHC protein19700356

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005515protein binding-IPI23415655  23825108  
GO:0016491oxidoreductase activity-IDA19801555  
GO:0016491oxidoreductase activity-TAS-  
GO:0031419cobalamin binding-IEA-  
GO:0032451demethylase activity-IDA19801555  
GO:0033787cyanocobalamin reductase (cyanide-eliminating) activity-IDA19700356  
GO:0033787cyanocobalamin reductase (cyanide-eliminating) activity-TAS-  
GO:0042803protein homodimerization activity-IPI22642810  
GO:0043295glutathione binding-IDA22642810  
GO:0071949FAD binding-IDA19700356  
GO ID GO Term Qualifier Evidence PubMed
GO:0006749glutathione metabolic process-IDA19801555  22642810  
GO:0009235cobalamin metabolic process-IDA19700356  22642810  
GO:0009235cobalamin metabolic process-IMP23825108  
GO:0009235cobalamin metabolic process-TAS-  
GO:0009236cobalamin biosynthetic process-IDA19801555  
GO:0009236cobalamin biosynthetic process-IEA-  
GO:0055114oxidation-reduction process-IDA19801555  
GO:0070988demethylation-IDA19801555  
GO ID GO Term Qualifier Evidence PubMed
GO:0005737cytoplasm-IDA23270877  
GO:0005829cytosol-TAS-  
KEGG ID KEGG Term
hsa04977Vitamin digestion and absorption
Reactome ID Reactome Term Evidence
R-HSA-1430728MetabolismTAS
R-HSA-1643685DiseaseTAS
R-HSA-196741Cobalamin (Cbl, vitamin B12) transport and metabolismTAS
R-HSA-196849Metabolism of water-soluble vitamins and cofactorsTAS
R-HSA-196854Metabolism of vitamins and cofactorsTAS
R-HSA-3296469Defects in cobalamin (B12) metabolismTAS
R-HSA-3296482Defects in vitamin and cofactor metabolismTAS
R-HSA-3359473Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblDTAS
R-HSA-3359474Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblCTAS
R-HSA-5668914Diseases of metabolismTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
23628113Unravelling the basis of variability in cobalamin levels in the general population. (2013 Nov 14)Andrew TBr J Nutr