GJB1 Gene Summary [Human]
This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | GJB1 |
| Official Name | gap junction protein beta 1 [Source:HGNC Symbol;Acc:HGNC:4283] |
| Ensembl ID | ENSG00000169562 |
| Bio databases IDs | |
| Aliases | gap junction protein beta 1, Charcot-Marie-Tooth neuropathy, X-linked, connexin 32 |
| Synonyms | CMTX, CMTX1, Cnx32, connexin-32, CX32, Cxng, gap junction protein beta 1, gap junction protein, beta 1, gap junction protein β 1, gap junction protein, β 1 |
| 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 GJB1 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
- intracellular loop
- protein binding
- identical protein binding
- Connexin
- gap-junction forming channel
- cytoplasmic domain
- Gap junction channel protein cysteine-rich domain
- transmembrane domain
- intracellular domain
- extracellular loop
- cytosolic tail domain
- transporter
Pathways
Biological processes and signaling networks where the GJB1 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.
disease
- epithelial cancer
- neoplasia
- epithelial neoplasia
- cancer
- liver cancer
- liver neoplasia
- digestive system cancer
- abdominal cancer
- non-small cell lung cancer
- lung carcinoma process
role in cell
- expression in
- proliferation
- apoptosis
- activation
- quantity
- migration
- formation
- abnormal morphology
- assembly
- size
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
- cell surface
- perinuclear region
- cellular membrane
- vesicles
- cell-cell contacts
- connexons
- lateral cell surfaces
- cytoplasmic face of plasma membrane
- endoplasmic reticulum membrane
- basal membrane
- lateral plasma membrane
- nodes of Ranvier
- paranodes
- Schmidt-Lanterman incisures
- gap junction plaques
- gap junctions
- membrane rafts
- membrane processes
- perikaryon
- dendrites
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GJB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- cell-cell signaling
- nervous system development
- gap junction assembly
- purine ribonucleotide transport
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- lateral plasma membrane
- connexon complex
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- gap junction channel activity