GJA1 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. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
Details
| Type | Protein Coding |
| Official Symbol | GJA1 |
| Official Name | gap junction protein alpha 1 [Source:HGNC Symbol;Acc:HGNC:4274] |
| Ensembl ID | ENSG00000152661 |
| Bio databases IDs | |
| Aliases | gap junction protein alpha 1, oculodentodigital dysplasia (syndactyly type III), connexin 43 |
| Synonyms | AVSD3, CMDR, Cnx43, Connexin-43, CX43, Cx43alpha1, Cxnk1, EKVP, EKVP3, gap junction membrane channel protein α 1, gap junction protein alpha 1, gap junction protein, alpha 1, gap junction protein α 1, gap junction protein, α 1, GJAL, HLHS1, HSS, Npm1, ODDD, PPKCA |
| 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 GJA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- efflux permease
- ZO-1 binding domain
- gap-junction forming channel
- Connexin
- Gap junction channel protein cysteine-rich domain
- tubulin binding
- alpha-tubulin binding
- intracellular domain
- extracellular loop
- beta-tubulin binding
- extracellular domain
- Connexin homologues
- intracellular loop
- protein kinase binding
- beta-catenin binding
- channel/pore class transporter
- calmodulin binding domain
- protein domain specific binding
- protein binding
- receptor binding
- organic anion transporter
- tripeptide transporter
- SH3-domain binding
- PDZ-domain binding
- ion transporter
- transmembrane domain
- PDZ binding motif
- Connexin 40 C-terminal domain
- tyrosine phosphorylation site
- transporter
Pathways
Biological processes and signaling networks where the GJA1 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
- pancreatic cancer
- neoplasia
- epithelial cancer
- epithelial neoplasia
- cancer
- stroke
- non-insulin-dependent diabetes mellitus
- chronic obstructive pulmonary disease
- renal clear cell adenocarcinoma
- autosomal recessive oculodentodigital dysplasia
role in cell
- migration
- growth
- proliferation
- accumulation in
- production in
- activation in
- phosphorylation in
- apoptosis
- expression in
- invasion by
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
- detergent-insoluble membrane fraction
- detergent-insoluble fractions
- cell junction
- intracellular membrane-bounded organelle
- Cytoplasm
- cell surface
- Golgi region
- cell borders
- perijunctional region
- intracellular space
- perinuclear region
- cellular membrane
- focal adhesions
- Nucleus
- endosomes
- lysosome
- Golgi Apparatus
- Mitochondria
- microtubules
- intermediate filaments
- microtubule tips
- intercellular junctions
- cell-cell contacts
- cytoplasmic aggregates
- cytosol
- endoplasmic reticulum membrane
- apical membrane
- lateral plasma membrane
- Golgi membrane
- mitochondrial outer membrane
- perinucleolar compartments
- nucleoplasm
- perinuclear space
- outer nuclear membrane
- growth cone
- myofibrils
- intercalated disks
- early endosomes
- late endosomes
- cytoplasmic vesicles
- multivesicular bodies
- gap junction plaques
- gap junctions
- membrane rafts
- cellular protrusions
- membrane processes
- perikaryon
- cell-cell adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GJA1 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
- glutamate secretion
- male gonad development
- atrial ventricular junction remodeling
- protein localization
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- blood vessel morphogenesis
- regulation of ventricular cardiomyocyte membrane repolarization
- lens development in camera-type eye
- columnar/cuboidal epithelial cell maturation
- adult heart development
- positive regulation of striated muscle tissue development
- skeletal muscle tissue regeneration
- bone development
- embryonic digit morphogenesis
- heart development
- neuron migration
- in utero embryonic development
- negative regulation of cell growth
- osteoblast differentiation
- heart looping
- cell communication by electrical coupling involved in cardiac conduction
- maintenance of blood-brain barrier
- regulation of bone mineralization
- milk ejection
- bone remodeling
- regulation of atrial cardiomyocyte membrane depolarization
- signal transduction
- ion transmembrane transport
- spermatogenesis
- cardiac conduction system development
- regulation of ventricular cardiomyocyte membrane depolarization
- cell-cell signaling
- establishment of mitotic spindle orientation
- negative regulation of gene expression
- regulation of bone remodeling
- positive regulation of gene expression
- positive regulation of stem cell proliferation
- T cell proliferation
- cell communication by electrical coupling
- cell communication by chemical coupling
- xenobiotic transport
- glutathione transmembrane transport
- gap junction assembly
- negative regulation of gonadotropin secretion
- cellular response to pH
Cellular Component
Where in the cell the gene product is active
- lateral plasma membrane
- Golgi membrane
- Golgi apparatus
- intermediate filament
- plasma membrane
- nucleoplasm
- endoplasmic reticulum membrane
- gap junction
- cell-cell contact zone
- occluding junction
- contractile fiber
- connexon complex
- focal adhesion
- cytoplasm
- fascia adherens
- intracellular membrane-bounded organelle
- membrane raft
- mitochondrion
- Golgi-associated vesicle membrane
- intercalated disc
- cytosol
- cell junction
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- tubulin binding
- efflux transmembrane transporter activity
- gap junction hemi-channel activity
- ion transmembrane transporter activity
- gap junction channel activity
- beta-catenin binding
- receptor binding
- scaffold protein binding
- protein binding
- beta-tubulin binding
- gap junction channel activity involved in cardiac conduction electrical coupling
- glutathione transmembrane transporter activity