Gene: JPH1

56704
CMT2K|JP-1|JP1
junctophilin 1
protein-coding
8q21.11
Ensembl:ENSG00000104369 MIM:605266 Vega:OTTHUMG00000164524 UniprotKB:Q9HDC5
NG_046331.1
PubMed|SNP Mapped
2   ANCO-SNPs
ND|AD
1   
NA (AD)  NA (ND)   (Frontal_Cortex)
1.358e-1 (AD)  1.894e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs10504567chr8:74264853 (GRCh38.p7)G>Calcohol dependenceSNV(Single Nucleotide Variation)
rs17337083chr8:74242632 (GRCh38.p7)T>Calcohol dependenceSNV(Single Nucleotide Variation)

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
CNKSR20.955
GABRB30.947
ATP2B10.939
NEDD4L0.938
TANC20.935
CACNA1E0.934
ST8SIA30.932
NCEH10.93
SCN3B0.93
HOOK10.93

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
HEY2-0.528
CSAG1-0.525
TFPI2-0.524
FZD10-0.513
MYL3-0.505
COPZ2-0.501
CNN2-0.5
PGF-0.479
RAI14-0.477
RNF135-0.474

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C5486512-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of JPH1 mRNA19933214
C0297902,2',3',4,4',5-hexachlorobiphenyl"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of JPH1 mRNA"25510870
C0817662,4,4'-trichlorobiphenyl"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of JPH1 mRNA"25510870
C0140242,4,5,2',4',5'-hexachlorobiphenyl"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of JPH1 mRNA"25510870
C0098282,4,5,2',5'-pentachlorobiphenyl"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of JPH1 mRNA"25510870
C0094072,5,2',5'-tetrachlorobiphenyl"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of JPH1 mRNA"25510870
C0235142,6-dinitrotoluene"2,6-dinitrotoluene affects the expression of JPH1 mRNA"21346803
C5830744,4'-hexafluorisopropylidene diphenol"4,4'-hexafluorisopropylidene diphenol results in increased expression of JPH1 mRNA"25912373
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 increased expression of JPH1 mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with vorinostat 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 increased expression of JPH1 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 increased expression of JPH1 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with vorinostat 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 increased expression of JPH1 mRNA"27188386
D000082AcetaminophenAcetaminophen results in increased expression of JPH1 mRNA29067470
D020106AcrylamideAcrylamide results in decreased expression of JPH1 mRNA28959563
D016604Aflatoxin B1Aflatoxin B1 results in decreased methylation of JPH1 gene27153756
D000535Aluminum[APP protein modified form binds to Aluminum] which results in increased expression of JPH1 mRNA21298039
D001280AtrazineAtrazine results in increased expression of JPH1 mRNA22378314
D001564Benzo(a)pyreneBenzo(a)pyrene results in decreased expression of JPH1 mRNA22316170
D004958EstradiolEstradiol results in increased expression of JPH1 mRNA23019147
C543008bis(4-hydroxyphenyl)sulfonebis(4-hydroxyphenyl)sulfone results in increased expression of JPH1 mRNA25912373
C006780bisphenol Abisphenol A results in increased expression of JPH1 mRNA25594700
C006780bisphenol Abisphenol A affects the expression of JPH1 mRNA25181051
C006780bisphenol Abisphenol A results in increased methylation of JPH1 gene28505145
C018475butyraldehydebutyraldehyde results in increased expression of JPH1 mRNA26079696
D002794Choline[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of JPH1 gene20938992
D002994ClofibrateClofibrate results in decreased expression of JPH1 mRNA22300585
D003300Copper[NSC 689534 binds to Copper] which results in decreased expression of JPH1 mRNA20971185
D003471CuprizoneCuprizone results in increased expression of JPH1 mRNA27523638
D016572CyclosporineCyclosporine results in increased expression of JPH1 mRNA20106945
D002945CisplatinCisplatin results in increased expression of JPH1 mRNA27594783
D004026DieldrinDieldrin results in decreased expression of JPH1 mRNA28385952
D005492Folic Acid[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of JPH1 gene20938992
C069837fullerene C60fullerene C60 results in decreased expression of JPH1 mRNA19167457
D008715Methionine[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of JPH1 gene20938992
D008748MethylcholanthreneMethylcholanthrene promotes the reaction [AHR protein binds to JPH1 promoter]20348232
C004925methylmercuric chloridemethylmercuric chloride results in increased expression of JPH1 mRNA23179753
C028007nickel monoxidenickel monoxide results in decreased expression of JPH1 mRNA19167457
C558013NSC 689534[NSC 689534 binds to Copper] which results in decreased expression of JPH1 mRNA20971185
C410127PCB 180"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of JPH1 mRNA"25510870
C027373potassium chromate(VI)potassium chromate(VI) results in increased expression of JPH1 mRNA22714537
D011192Potassium DichromatePotassium Dichromate results in increased expression of JPH1 mRNA23608068
D011441PropylthiouracilPropylthiouracil results in decreased expression of JPH1 mRNA24780913
D012906SmokeSmoke results in decreased expression of JPH1 mRNA21095227
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in decreased expression of JPH1 mRNA19933214
D014212TretinoinTretinoin results in decreased expression of JPH1 mRNA21934132
C012589trichostatin Atrichostatin A results in increased expression of JPH1 mRNA24935251
C015559trimellitic anhydridetrimellitic anhydride results in decreased expression of JPH1 mRNA19042947
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 increased expression of JPH1 mRNA"27188386
D014635Valproic AcidValproic Acid affects the expression of JPH1 mRNA25979313
D014635Valproic AcidValproic Acid results in increased expression of JPH1 mRNA23179753|2438349
D001335Vehicle EmissionsVehicle Emissions affects the methylation of JPH1 gene25560391
C111237vorinostat"[NOG protein co-treated with vorinostat 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 increased expression of JPH1 mRNA"27188386

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0003674molecular_function-ND-  
GO:0008307structural constituent of muscle-IEA-  
GO:0015278calcium-release channel activity-IBA21873635  
GO ID GO Term Qualifier Evidence PubMed
GO:0007517muscle organ development-IEA-  
GO:0060314regulation of ryanodine-sensitive calcium-release channel activity-TAS19095005  
GO:0060402calcium ion transport into cytosol-TAS19095005  
GO ID GO Term Qualifier Evidence PubMed
GO:0005634nucleus-IDA-  
GO:0005654nucleoplasm-IDA-  
GO:0005783endoplasmic reticulum-IBA21873635  
GO:0005789endoplasmic reticulum membrane-IBA21873635  
GO:0005886plasma membrane-IBA21873635  
GO:0005886plasma membrane-IEA-  
GO:0014701junctional sarcoplasmic reticulum membrane-TAS19095005  
GO:0016021integral component of membrane-IEA-  
GO:0016529sarcoplasmic reticulum-IBA21873635  
GO:0030018Z disc-IEA-  
GO:0030314junctional membrane complex-IBA21873635  
GO:0030314junctional membrane complex-NAS10891348  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence

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

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

PMID Title (Year) Author Journal
24954085Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics. (2014 Sep 15)Della-Morte DJ Neurol Sci