Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 56704
MIM: 605266
HGNC: 14201
Ensembl: ENSG00000104369
Variants:
dbSNP: 56704
ClinVar: 56704
TCGA: ENSG00000104369
COSMIC: JPH1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000104369 | ENST00000342232 | Q9HDC5 |
| ENSG00000104369 | ENST00000519947 | E5RHU9 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36724092 | 2023 | Muscle calcium stress cleaves junctophilin1, unleashing a gene regulatory program predicted to correct glucose dysregulation. | 4 |
| 36724092 | 2023 | Muscle calcium stress cleaves junctophilin1, unleashing a gene regulatory program predicted to correct glucose dysregulation. | 4 |
| 35089322 | 2022 | Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence. | 7 |
| 35089322 | 2022 | Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence. | 7 |
| 30804591 | 2019 | Association of SNP in JPH1 gene with severity of disease in Charcot Marie Tooth 2K patients. | 3 |
| 30804591 | 2019 | Association of SNP in JPH1 gene with severity of disease in Charcot Marie Tooth 2K patients. | 3 |
| 25168384 | 2015 | Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease. | 28 |
| 25168384 | 2015 | Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease. | 28 |
| 24954085 | 2014 | Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics. | 7 |
| 24954085 | 2014 | Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics. | 7 |
| 23148318 | 2013 | Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle. | 66 |
| 23148318 | 2013 | Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle. | 66 |
| 22020936 | 2011 | Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle. | 52 |
| 22020936 | 2011 | Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle. | 52 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
JPH1 (junctophilin 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64724/jph1-(junctophilin-1)
