JPH1 Gene: Junctophilin-1
Key regulator of calcium signaling in skeletal muscle and cardiac tissue
Gene Information Card
| Symbol | JPH1 |
|---|---|
| Full Name | junctophilin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.11 |
| NCBI Gene ID | 56704 ncbi.nlm.nih.gov/gene/56704 |
| Ensembl ID | ENSG00000104325 |
| UniProt ID | Q9HDC5 |
| OMIM ID | 605426 |
| HGNC ID | 14201 |
| Aliases | JP-1, JP1, JPH1_HUMAN |
Description
JPH1 encodes junctophilin-1, a protein that forms junctional membrane complexes between the plasma membrane and the sarcoplasmic reticulum in skeletal and cardiac muscle. It is essential for proper calcium channel coupling and excitation-contraction coupling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myopathy, centronuclear, 1 | Disruption of triad junction structure leading to impaired calcium release | OMIM #160150 |
| Cardiomyopathy, dilated, 1VV | Altered calcium handling in cardiac myocytes | OMIM #618015 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 58.2 | High |
| Heart | 32.1 | Medium |
| Brain | 1.5 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myotubes | 62.0 | Differentiated cells |
| Cardiomyocytes (iPS-derived) | 28.5 | Beating cells |
| HEK 293 | 0.1 | Non-muscle control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38*) | Nonsense | Rare | Loss of protein function |
| c.632G>A (p.Arg211Gln) | Missense | 0.01% | Impaired triad targeting |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and loss of triad junction formation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations may disrupt oligomerization and interfere with wild-type protein.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005789 (GO:0005789) | • GO:0030315 (GO:0030315) |
| • GO:0016529 (GO:0016529) | • GO:0051209 (GO:0051209) |
Pathways
• Excitation-contraction coupling (REACT:111045)
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
Junctophilin-1 is a 628-amino acid protein with a C-terminal transmembrane domain and multiple N-terminal MORN repeats that mediate membrane apposition. It is critical for the formation of junctional membrane complexes in striated muscle, enabling efficient calcium release from the sarcoplasmic reticulum.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JPH1 Knockout HEK293 Cell Line | EDJ-KQ13881 | Human | 56704 | Details Get a Quote |
| JPH1 Knockout HCT 116 Cell Line | EDJ-KQ42469 | Human | 56704 | Details Get a Quote |
| JPH1 Knockout HeLa Cell Line | EDJ-KQ43735 | Human | 56704 | Details Get a Quote |
| JPH1 Knockout A-549 Cell Line | EDJ-KQ65255 | Human | 56704 | Details Get a Quote |
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