Gene: MMAA

166785
cblA
methylmalonic aciduria (cobalamin deficiency) cblA type
protein-coding
4q31.21
Ensembl:ENSG00000151611 MIM:607481 Vega:OTTHUMG00000161369 UniprotKB:Q8IVH4
NG_007536.1
PubMed
0   ANCO-SNPs
ND
1   
NA (AD)  NA (ND)   (Frontal_Cortex)
8.336e-1 (AD)  3.513e-2 (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
BLZF10.825
TRNT10.813
NAA150.809
EIF2AK20.806
ZNF120.804
SNAPC30.802
KLHL90.799
MRPL500.792
CRNKL10.79
BBS100.79

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.475
OR4F29-0.414
OR6C74-0.247
C9orf153-0.231
ANPEP-0.226
NANOGNB-0.221
OR4F6-0.218
COX4I2-0.218
PMAIP1-0.216
C6orf10-0.215

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C0235142,6-dinitrotoluene"2,6-dinitrotoluene affects the expression of MMAA mRNA"21346803
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with entinostat co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MMAA mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with entinostat co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MMAA mRNA"27188386
D000082AcetaminophenAcetaminophen results in decreased expression of MMAA mRNA21420995
D000082AcetaminophenAcetaminophen affects the expression of MMAA mRNA17562736
D016604Aflatoxin B1Aflatoxin B1 results in decreased methylation of MMAA gene27153756
C006780bisphenol Abisphenol A affects the expression of MMAA mRNA21786754
C018475butyraldehydebutyraldehyde results in decreased expression of MMAA mRNA26079696
C018021cobaltous chloridecobaltous chloride results in decreased expression of MMAA mRNA24386269
D019327Copper SulfateCopper Sulfate results in decreased expression of MMAA mRNA19549813
D002945CisplatinCisplatin results in decreased expression of MMAA mRNA27594783
D002945CisplatinCisplatin results in increased expression of MMAA mRNA27392435
D004051Diethylhexyl PhthalateDiethylhexyl Phthalate results in decreased expression of MMAA mRNA28085963
C118739entinostatentinostat results in decreased expression of MMAA mRNA26272509
C118739entinostat"[NOG protein co-treated with entinostat co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MMAA mRNA"27188386
D005020Ethyl MethanesulfonateEthyl Methanesulfonate results in decreased expression of MMAA mRNA23649840
D005557FormaldehydeFormaldehyde results in decreased expression of MMAA mRNA20655997
C004925methylmercuric chloridemethylmercuric chloride results in decreased expression of MMAA mRNA28001369
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in increased expression of MMAA mRNA26011545
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in decreased expression of MMAA mRNA23649840
D037742Nanotubes, Carbon"Nanotubes, Carbon analog results in decreased expression of MMAA mRNA"25620056
D009532NickelNickel results in increased expression of MMAA mRNA24768652|2558310
D012715Sesame OilSesame Oil results in increased expression of MMAA mRNA29191790
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in increased expression of MMAA mRNA21354282
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in decreased expression of MMAA mRNA21215274
C012589trichostatin Atrichostatin A results in increased expression of MMAA mRNA15901671
C012589trichostatin Atrichostatin A results in decreased expression of MMAA mRNA24935251
D014303TrinitrotolueneTrinitrotoluene affects the expression of MMAA mRNA21346803
D014520UrethaneUrethane results in decreased expression of MMAA mRNA28818685
D014635Valproic AcidValproic Acid results in increased expression of MMAA mRNA15901671
D014635Valproic AcidValproic Acid affects the expression of MMAA mRNA25979313
D014635Valproic AcidValproic Acid results in decreased expression of MMAA mRNA23179753|2493525
D014635Valproic AcidValproic Acid results in increased expression of MMAA mRNA28001369
D014635Valproic AcidValproic Acid affects the expression of MMAA mRNA17292431
D001335Vehicle EmissionsVehicle Emissions results in increased methylation of MMAA gene25560391

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0003924GTPase activity-IDA20876572  
GO:0003924GTPase activity-IMP28497574  
GO:0005515protein binding-IPI20876572  28497574  
GO:0005525GTP binding-IDA20876572  28497574  
GO:0042802identical protein binding-IDA20876572  
GO:0042803protein homodimerization activity-IDA20876572  
GO ID GO Term Qualifier Evidence PubMed
GO:0009235cobalamin metabolic process-TAS28497574  
GO:0009236cobalamin biosynthetic process-IEA-  
GO ID GO Term Qualifier Evidence PubMed
GO:0005759mitochondrial matrix-TAS-  
KEGG ID KEGG Term
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-3359475Defective MMAA causes methylmalonic aciduria type cblATAS
R-HSA-3359478Defective MUT causes methylmalonic aciduria mut typeTAS
R-HSA-556833Metabolism of lipidsTAS
R-HSA-5668914Diseases of metabolismTAS
R-HSA-71032Propionyl-CoA catabolismTAS
R-HSA-77289Mitochondrial Fatty Acid Beta-OxidationTAS
R-HSA-8978868Fatty acid 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