GJE1 Gene Summary [Human]
Predicted to enable gap junction channel activity. Predicted to be involved in cell-cell signaling. Predicted to act upstream of or within cell morphogenesis; lens development in camera-type eye; and organ growth. Predicted to be integral component of membrane. Predicted to be part of connexin complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | GJE1 |
| Official Name | gap junction protein epsilon 1 [Source:HGNC Symbol;Acc:HGNC:33251] |
| Ensembl ID | ENSG00000203733 |
| Bio databases IDs | |
| Aliases | gap junction protein epsilon 1 |
| Synonyms | AEY12, CX23, Cx29, Cxnt, D230044M03Rik, gap junction protein epsilon 1, gap junction protein, epsilon 1, gap junction protein ε 1, gap junction protein, ε 1, Gjf1, Gsfaey12, LOC684664, RGD1308189 |
| 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 GJE1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Gap junction channel protein cysteine-rich domain
- Connexin
Pathways
Biological processes and signaling networks where the GJE1 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.
binds
role in cell
- morphogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Unknown
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GJE1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- organ growth
- transmembrane transport
- cell morphogenesis
- cell-cell signaling
- lens development in camera-type eye
Cellular Component
Where in the cell the gene product is active
- connexon complex
Molecular Function
What the gene product does at the molecular level
- gap junction channel activity