JPH1 Gene Summary [Human]

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
JPH1
Official Name
junctophilin 1 [Source:HGNC Symbol;Acc:HGNC:14201]
Ensembl ID
ENSG00000104369
Bio databases IDs NCBI: 56704 Ensembl: ENSG00000104369
Aliases junctophilin 1
Synonyms CMT2K, CMYO25, JP-1, junctophilin 1, LOC100504883
Species
Human, Homo sapiens
OrthologiesMouseRat

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 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 human 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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.