Gene: MCPH1

79648
BRIT1|MCT
microcephalin 1
protein-coding
8p23.1
Ensembl:ENSG00000147316 MIM:607117 Vega:OTTHUMG00000163618 UniprotKB:Q8NEM0
NG_016619.2
PubMed|SNP Mapped
3   ANCO-SNPs
ND
1   
NA (AD)  NA (ND)   (Frontal_Cortex)
8.890e-1 (AD)  1.390e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs2442623chr8:6518817 (GRCh38.p7)G>Anicotine dependenceSNV(Single Nucleotide Variation)
rs3020213chr8:6512409 (GRCh38.p7)C>Tnicotine dependenceSNV(Single Nucleotide Variation)
rs7018378chr8:6420991 (GRCh38.p7)G>Anicotine dependenceSNV(Single Nucleotide Variation)

DNA Methylation

Probe Locus(GRCh37) Gene Region p-val Trait PubMed ID
cg03773820chr8:6264959MCPH11.020e-8Maternal smoking in pregnancy27040690
cg03773820chr8:6264959MCPH11.090e-9Maternal smoking in pregnancy27040690
cg03773820chr8:6264959MCPH17.630e-9Maternal smoking in pregnancy27040690

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
TRIP120.919
NUP1530.908
AGFG10.903
YME1L10.901
SEL1L0.9
USO10.899
TAF20.897
EXOC20.895
MAP3K70.895
CBLL10.895

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.573
OR4F29-0.55
MTRNR2L10-0.263
MTRNR2L6-0.248
OR4F16-0.237
RSPO1-0.227
MTRNR2L9-0.214
PLA2G5-0.213
PTGDR2-0.212
RNF223-0.209

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with Phenylmercuric Acetate 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 MCPH1 mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with Valproic Acid 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 MCPH1 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with Phenylmercuric Acetate 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 MCPH1 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with Valproic Acid 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 MCPH1 mRNA"27188386
D000082AcetaminophenAcetaminophen results in increased expression of MCPH1 mRNA29067470
D016604Aflatoxin B1Aflatoxin B1 results in decreased expression of MCPH1 mRNA19770486
D001151ArsenicArsenic affects the methylation of MCPH1 gene25304211
D001564Benzo(a)pyreneBenzo(a)pyrene results in decreased expression of MCPH1 mRNA19770486
C006780bisphenol Abisphenol A affects the expression of MCPH1 mRNA25181051
C018475butyraldehydebutyraldehyde results in decreased expression of MCPH1 mRNA26079696
D019256Cadmium ChlorideCadmium Chloride results in increased expression of MCPH1 mRNA21457566
D002794Choline[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of MCPH1 mRNA20938992
D016572CyclosporineCyclosporine results in increased expression of MCPH1 mRNA25562108|2798913
C042080diisodecyl phthalatediisodecyl phthalate results in decreased expression of MCPH1 mRNA25270620
D005492Folic Acid[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of MCPH1 mRNA20938992
D005557FormaldehydeFormaldehyde results in decreased expression of MCPH1 mRNA20655997
D017313FenretinideFenretinide results in decreased expression of MCPH1 mRNA28973697
C561695(+)-JQ1 compound(+)-JQ1 compound results in decreased expression of MCPH1 mRNA23086925|2343069
C045463leflunomideleflunomide results in increased expression of MCPH1 mRNA28988120
D008715Methionine[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of MCPH1 mRNA20938992
D008727MethotrexateMethotrexate results in increased expression of MCPH1 mRNA24449571
C004925methylmercuric chloridemethylmercuric chloride results in decreased expression of MCPH1 mRNA28001369
D010662Phenylmercuric Acetate"[NOG protein co-treated with Phenylmercuric Acetate 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 MCPH1 mRNA"27188386
D010662Phenylmercuric AcetatePhenylmercuric Acetate results in decreased expression of MCPH1 mRNA26272509
D011192Potassium DichromatePotassium Dichromate results in decreased expression of MCPH1 mRNA23608068
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of MCPH1 mRNA21570461
D013752TetracyclineTetracycline results in increased expression of MCPH1 mRNA16917069
D013849ThimerosalThimerosal results in increased expression of MCPH1 mRNA27188386
D014028Tobacco Smoke PollutionTobacco Smoke Pollution results in increased expression of MCPH1 mRNA28065790
C012589trichostatin Atrichostatin A results in decreased expression of MCPH1 mRNA24935251
C015559trimellitic anhydridetrimellitic anhydride results in increased expression of MCPH1 mRNA19042947
D014520UrethaneUrethane results in decreased expression of MCPH1 mRNA28818685
D014635Valproic Acid"[NOG protein co-treated with Valproic Acid 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 MCPH1 mRNA"27188386
D014635Valproic AcidValproic Acid affects the expression of MCPH1 mRNA25979313
D014635Valproic AcidValproic Acid results in decreased expression of MCPH1 mRNA23179753|2493525
D014635Valproic AcidValproic Acid affects the expression of MCPH1 mRNA17292431
D001335Vehicle EmissionsVehicle Emissions results in decreased methylation of MCPH1 gene25560391

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005515protein binding-IPI18660752  19287395  
GO:0042802identical protein binding-IPI18660752  
GO ID GO Term Qualifier Evidence PubMed
GO:0000122negative regulation of transcription by RNA polymerase II-IDA12837246  
GO:0000132establishment of mitotic spindle orientation-IEA-  
GO:0021987cerebral cortex development-IEA-  
GO:0043549regulation of kinase activity-IEA-  
GO:0046605regulation of centrosome cycle-IEA-  
GO:0050727regulation of inflammatory response-IEA-  
GO:0060348bone development-IEA-  
GO:0060623regulation of chromosome condensation-IEA-  
GO:0071539protein localization to centrosome-IEA-  
GO:0071850mitotic cell cycle arrest-IDA24633962  
GO:0097150neuronal stem cell population maintenance-IEA-  
GO ID GO Term Qualifier Evidence PubMed
GO:0005654nucleoplasm-TAS-  
GO:0005737cytoplasm-IEA-  
GO:0005815microtubule organizing center-IEA-  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence
R-HSA-1640170Cell CycleTAS
R-HSA-2299718Condensation of Prophase ChromosomesTAS
R-HSA-68875Mitotic ProphaseTAS
R-HSA-68886M PhaseTAS
R-HSA-69278Cell Cycle, MitoticTAS

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

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

PMID Title (Year) Author Journal
23908141Interaction of polymorphisms in mitotic regulator genes with cigarette smoking and pancreatic cancer risk. (2013 Nov)Jang JHMol Carcinog