JPH4 Gene Summary [Human]
This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | JPH4 |
| Official Name | junctophilin 4 [Source:HGNC Symbol;Acc:HGNC:20156] |
| Ensembl ID | ENSG00000092051 |
| Bio databases IDs | |
| Aliases | junctophilin 4 |
| Synonyms | 9330157P13RIK, AI425998, JP-4, JPHL1, junctophilin 4 |
| Species | Human, Homo sapiens |
| 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 human JPH4 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
- 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
- endometrial cancer
- infertility condition
- Huntington disease
- colon epithelial cancer
- colon carcinoma
- uterine leiomyoma
- leiomyomatosis
role in cell
- expression in
- activation in
- long-term potentiation
- activation
- plasticity
- transport in
- store-operated calcium influx in
- excitatory postsynaptic potential
- afterhyperpolarization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum-plasma membrane junction
- cellular membrane
- sarcoplasmic reticulum
- smooth endoplasmatic reticulum
- dendritic shafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human JPH4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of synaptic plasticity
- regulation of cytokine production
- learning
- regulation of store-operated calcium entry
- neuromuscular process controlling balance
- 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
- dendritic shaft
- smooth endoplasmic reticulum
- junctional sarcoplasmic reticulum membrane
- plasma membrane
- junctional membrane complex
Molecular Function
What the gene product does at the molecular level
- protein binding