Gja1 Gene Summary [Mouse]
Enables several functions, including beta-tubulin binding activity; glutathione transmembrane transporter activity; and scaffold protein binding activity. Involved in several processes, including cellular response to amyloid-beta; glutamate secretion; and positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including cell communication by chemical coupling; circulatory system development; and regulation of gene expression. Located in several cellular components, including fascia adherens; gap junction; and lateral plasma membrane. Is expressed in several structures, including alimentary system; embryo ectoderm; genitourinary system; heart and pericardium; and sensory organ. Used to study oculodentodigital dysplasia. Human ortholog(s) of this gene implicated in several diseases, including bone disease (multiple); erythrokeratodermia variabilis (multiple); hypoplastic left heart syndrome; oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Orthologous to human GJA1 (gap junction protein alpha 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Gja1 |
| Official Name | gap junction protein, alpha 1 [Source:MGI Symbol;Acc:MGI:95713] |
| Ensembl ID | ENSMUSG00000050953 |
| Bio databases IDs | |
| Aliases | gap junction protein, alpha 1 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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 mouse 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
phenotypes
- abnormal alisphenoid bone morphology
- abnormal atrioventricular bundle conduction
- abnormal bone marrow cell morphology/development
- abnormal breathing pattern
- abnormal cardiac muscle contractility
- abnormal cardiac outflow tract development
- abnormal cardiovascular system physiology
- abnormal coronary artery morphology
- abnormal coronary vein morphology
- abnormal coronary vessel morphology
- abnormal craniofacial bone morphology
- abnormal cranium morphology
- abnormal digit morphology
- abnormal epidermis stratum corneum morphology
- abnormal epidermis stratum granulosum morphology
- abnormal granulosa cell morphology
- abnormal heart development
- abnormal heart electrocardiography waveform feature
- abnormal heart morphology
- abnormal heart rate
- abnormal heart right ventricle morphology
- abnormal heart right ventricle outflow tract morphology
- abnormal heart shape
- abnormal heart ventricle morphology
- abnormal impulse conducting system conduction
- abnormal incisor morphology
- abnormal interventricular septum morphology
- abnormal iris morphology
- abnormal lactation
- abnormal mammary gland alveolus morphology
- abnormal mammary gland growth during pregnancy
- abnormal mammary gland luminal epithelium morphology
- abnormal milk ejection
- abnormal myocardial fiber physiology
- abnormal myocardium layer morphology
- abnormal nervous system development
- abnormal neurocranium morphology
- abnormal neutrophil physiology
- abnormal occipital bone morphology
- abnormal osteoblast differentiation
- abnormal osteoblast physiology
- abnormal ovarian follicle morphology
- abnormal ovary morphology
- abnormal parietal bone morphology
- abnormal phalanx morphology
- abnormal proerythroblast morphology
- abnormal pulmonary gas exchange
- abnormal pulmonary valve morphology
- abnormal rib morphology
- abnormal semilunar valve morphology
- abnormal seminiferous tubule morphology
- abnormal skin condition
- abnormal spermatocyte morphology
- abnormal spermatogenesis
- abnormal suckling behavior
- abnormal superovulation
- abnormal thoracic cage morphology
- abnormal tooth development
- abnormal tooth morphology
- abnormal trabecula carnea morphology
- abnormal vascular smooth muscle physiology
- abnormal vascular wound healing
- abnormal zygomatic arch morphology
- absent corpus luteum
- absent mature ovarian follicles
- azoospermia
- brittle teeth
- cardiac fibrosis
- cardiac hypertrophy
- cataract
- corneal opacity
- coronary artery aneurysm
- coronary fistula
- cyanosis
- decreased QRS amplitude
- decreased body size
- decreased body weight
- decreased bone marrow cell number
- decreased bone mineral content
- decreased bone mineral density
- decreased bone strength
- decreased cardiac muscle contractility
- decreased germ cell number
- decreased granulosa cell proliferation
- decreased heart rate
- decreased litter size
- decreased male germ cell number
- decreased mature ovarian follicle number
- decreased ovulation rate
- decreased testis weight
- decreased tympanic ring size
- decreased ventricle muscle contractility
- delayed bone ossification
- delayed endochondral bone ossification
- delayed intramembranous bone ossification
- dilated heart left ventricle
- edema
- female infertility
- heart inflammation
- heart right ventricle outflow tract stenosis
- impaired luteinization
- impaired ovarian folliculogenesis
- impaired skin barrier function
- increased granulosa cell apoptosis
- interparietal bone hypoplasia
- irregular heartbeat
- irregularly shaped pupil
- lethality throughout fetal growth and development incomplete penetrance
- male infertility
- maternal effect
- neonatal lethality complete penetrance
- no abnormal phenotype detected
- oligozoospermia
- ovary cysts
- patent cardiac foramen ovale
- perinatal lethality
- perinatal lethality complete penetrance
- perinatal lethality incomplete penetrance
- pointed snout
- postnatal growth retardation
- postnatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- premature death
- prenatal lethality incomplete penetrance
- preweaning lethality complete penetrance
- preweaning lethality incomplete penetrance
- prolonged P wave
- prolonged PR interval
- prolonged QRS complex duration
- prolonged QT interval
- reduced enamel thickness
- reduced female fertility
- semilunar valve regurgitation
- short zygomatic bone
- shortened QT interval
- small cranium
- small frontal bone
- small heart
- small lower incisors
- small mandible
- small maxilla
- small nasal bone
- small neurocranium
- small ovary
- small snout
- small testis
- syndactyly
- thick aortic valve
- thick pulmonary valve
- thin myocardium compact layer
- thin parietal bone
- thin ventricular wall
- ventricular premature beat
- ventricular tachycardia
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 mouse 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