GJC1 Gene Summary [Human]
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GJC1 |
| Official Name | gap junction protein gamma 1 [Source:HGNC Symbol;Acc:HGNC:4280] |
| Ensembl ID | ENSG00000182963 |
| Bio databases IDs | |
| Aliases | gap junction protein gamma 1, connexin 45 |
| Synonyms | C130009G16Rik, Cnx45, Connexin 45, CX45, Cxnq, gap junction protein gamma 1, gap junction protein, gamma 1, gap junction protein γ 1, gap junction protein, γ 1, GJA7 |
| 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 GJC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Connexin homologues
- Gap junction channel protein cysteine-rich domain
- protein binding
- ion channel
- Connexin
- gap-junction forming channel
Pathways
Biological processes and signaling networks where the GJC1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
role in cell
- expression in
- proliferation
- apoptosis
- segregation
- assembly
- formation
- development
- activation in
- development in
- firing
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
- Cytoplasm
- perinuclear region
- cellular membrane
- Nucleus
- Endoplasmic Reticulum
- intercellular junctions
- endoplasmic reticulum membrane
- nucleoplasm
- intercalated disks
- gap junction plaques
- gap junctions
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GJC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of atrial cardiac muscle cell action potential
- cell-cell junction assembly
- ion transmembrane transport
- cell-cell signaling
- synaptic transmission
- vasculogenesis
- cell development
- visual perception
- cardiac muscle tissue development
- muscle contraction
- gap junction assembly
- AV node cell to bundle of His cell communication by electrical coupling
- SA node cardiomyocyte to atrial cardiomyocyte communication by electrical coupling
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- gap junction
- connexon complex
- intercalated disc
- endoplasmic reticulum
- synapse
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ion channel activity
- gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling
- protein binding
- gap junction channel activity
- gap junction channel activity involved in SA node cell-atrial cardiomyocyte electrical coupling