Jph1 Gene Summary [Mouse]
A structural constituent of muscle. Acts upstream of or within muscle organ development. Located in Z disc; junctional sarcoplasmic reticulum membrane; and plasma membrane. Part of junctional membrane complex. Is expressed in several structures, including genitourinary system; heart; liver; skeletal muscle; and spleen. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K. Orthologous to human JPH1 (junctophilin 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | Jph1 |
| Official Name | junctophilin 1 [Source:MGI Symbol;Acc:MGI:1891495] |
| Ensembl ID | ENSMUSG00000042686 |
| Bio databases IDs | |
| Aliases | junctophilin 1 |
| Synonyms | CMT2K, CMYO25, JP-1, junctophilin 1, LOC100504883 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Jph1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Membrane Occupation and Recognition Nexus motif
- structural constituent of muscle
- MORN repeat
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- idiopathic scoliosis
- congenital myopathy type 25
- congenital myopathy
- COVID-19
- susceptibility to malignant hyperthermia
- autosomal dominant Charcot-Marie-Tooth disease axonal type 2K
- cholecystitis
- phobic anxiety disorder
role in cell
- expression in
- quantity
- morphology
- abnormal morphology
- transport in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- junctional membrane complex
- cellular membrane
- sarcoplasmic reticulum
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- microsome
- nucleoplasm
- sarcoplasmic reticulum-T tubule junctions
- I-A band junctions
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Jph1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- regulation of ryanodine-sensitive calcium-release channel activity
- calcium ion transport into cytosol
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- Z disc
- sarcoplasmic reticulum
- junctional sarcoplasmic reticulum membrane
- plasma membrane
- junctional membrane complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- structural constituent of muscle