Gja1 - gap junction protein, alpha 1 Gene

Mus musculus

Also known as Cx43; Npm1; Cnx43; Cxnk1; Gja-1; Cx43alpha1; connexin43

Gene ID: 14609 | Gene type: protein coding

About Gja1

Summary

Enables several functions, including beta-tubulin binding activity; glutathione transmembrane transporter activity; and scaffold protein binding activity. Involved in several processes, including animal organ development; cellular response to amyloid-beta; and positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including circulatory system development; regulation of gene expression; and regulation of membrane depolarization. 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; sensory organ; and skin. Used to study oculodentodigital dysplasia. Human ortholog(s) of this gene implicated in several diseases, including autosomal recessive craniometaphyseal dysplasia; congenital heart disease (multiple); erythrokeratodermia variabilis (multiple); oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Orthologous to human GJA1 (Gap Junction Protein alpha 1). [provided by Alliance of Genome Resources, Apr 2022]

Gja1 Products(1)

mRNA	Protein	Name
NM_010288.3	NP_034418.1	gap junction alpha-1 protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables beta-tubulin binding	IDA IDA: Inferred from direct assay	15084279	MGI
enables efflux transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	26200696	MGI
enables gap junction channel activity	IDA IDA: Inferred from direct assay	11397787	MGI
enables gap junction channel activity	IMP IMP: Inferred from mutant phenotype	29366904	MGI
enables glutathione transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	26200696	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	11139474	MGI
enables protein tyrosine kinase binding	IPI IPI: Inferred from physical interaction	14699011	MGI
enables scaffold protein binding	IPI IPI: Inferred from physical interaction	14699011	MGI
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	15331634	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in T cell activation	IDA IDA: Inferred from direct assay	21844382	MGI
involved in T cell proliferation	IMP IMP: Inferred from mutant phenotype	26648560	MGI
acts upstream of or within adult heart development	IMP IMP: Inferred from mutant phenotype	9486664	MGI
acts upstream of or within atrial ventricular junction remodeling	IGI IGI: Inferred from genetic interaction	10969038	MGI
acts upstream of or within blood vessel morphogenesis	IMP IMP: Inferred from mutant phenotype	16624854	MGI
involved in bone development	IMP IMP: Inferred from mutant phenotype	25270829	MGI
involved in bone remodeling	IMP IMP: Inferred from mutant phenotype	25270829	MGI
acts upstream of or within cardiac conduction	IMP IMP: Inferred from mutant phenotype	9109444	MGI
acts upstream of or within cell communication by chemical coupling	IDA IDA: Inferred from direct assay	15084279	MGI
acts upstream of or within cell communication by electrical coupling	IDA IDA: Inferred from direct assay	15084279	MGI
acts upstream of or within cell-cell junction organization	IMP IMP: Inferred from mutant phenotype	9620080	MGI
acts upstream of or within cell-cell signaling	IDA IDA: Inferred from direct assay	11397787	MGI
involved in cellular response to amyloid-beta	IMP IMP: Inferred from mutant phenotype	26200696	MGI
involved in cellular response to pH	IDA IDA: Inferred from direct assay	14699011	MGI
acts upstream of or within columnar/cuboidal epithelial cell maturation	IMP IMP: Inferred from mutant phenotype	16624854	MGI
acts upstream of or within embryonic digit morphogenesis	IMP IMP: Inferred from mutant phenotype	19439426	MGI
acts upstream of or within embryonic heart tube development	IMP IMP: Inferred from mutant phenotype	14732399	MGI
involved in export across plasma membrane	IMP IMP: Inferred from mutant phenotype	26200696	MGI
involved in glutamate secretion	IMP IMP: Inferred from mutant phenotype	26200696	MGI
acts upstream of or within heart development	IMP IMP: Inferred from mutant phenotype	16624854	MGI
involved in heart development	IMP IMP: Inferred from mutant phenotype	7892609	MGI
acts upstream of or within heart looping	IMP IMP: Inferred from mutant phenotype	9486664	MGI
acts upstream of or within in utero embryonic development	IMP IMP: Inferred from mutant phenotype	9486664	MGI
acts upstream of or within lens development in camera-type eye	IMP IMP: Inferred from mutant phenotype	9620080	MGI
involved in male gonad development	IMP IMP: Inferred from mutant phenotype	17591950	MGI
acts upstream of or within milk ejection reflex	IMP IMP: Inferred from mutant phenotype	20089884	MGI
involved in negative regulation of cell growth	IMP IMP: Inferred from mutant phenotype	15181016	MGI
acts upstream of or within negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	19439426	MGI
acts upstream of or within neuroblast migration	IMP IMP: Inferred from mutant phenotype	12638734	MGI
acts upstream of or within neuron migration	IMP IMP: Inferred from mutant phenotype	12638734	MGI
acts upstream of or within osteoblast differentiation	IMP IMP: Inferred from mutant phenotype	12606326	MGI
involved in positive regulation of cold-induced thermogenesis	IMP IMP: Inferred from mutant phenotype	27626200	MGI
acts upstream of or within positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	19439426	MGI
acts upstream of or within positive regulation of striated muscle tissue development	IMP IMP: Inferred from mutant phenotype	15601660	MGI
acts upstream of or within regulation of atrial cardiac muscle cell membrane depolarization	IMP IMP: Inferred from mutant phenotype	10969038	MGI
acts upstream of or within regulation of bone mineralization	IMP IMP: Inferred from mutant phenotype	21346198	MGI
acts upstream of or within regulation of bone remodeling	IMP IMP: Inferred from mutant phenotype	21346198	MGI
acts upstream of or within regulation of heart contraction	IMP IMP: Inferred from mutant phenotype	11179202	MGI
acts upstream of or within regulation of ventricular cardiac muscle cell membrane depolarization	IGI IGI: Inferred from genetic interaction	10969038	MGI
acts upstream of or within regulation of ventricular cardiac muscle cell membrane depolarization	IMP IMP: Inferred from mutant phenotype	9109444	MGI
acts upstream of or within regulation of ventricular cardiac muscle cell membrane repolarization	IGI IGI: Inferred from genetic interaction	10969038	MGI
acts upstream of or within regulation of ventricular cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	10969038	MGI
acts upstream of or within skeletal muscle tissue regeneration	IDA IDA: Inferred from direct assay	15601660	MGI
involved in spermatogenesis	IMP IMP: Inferred from mutant phenotype	17591950	MGI
involved in xenobiotic transport	IMP IMP: Inferred from mutant phenotype	26200696	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	15084279	MGI
located in apical plasma membrane	IDA IDA: Inferred from direct assay	9620080	MGI
located in cell junction	IDA IDA: Inferred from direct assay	15601660	MGI
located in cell-cell junction	IDA IDA: Inferred from direct assay	15084279	MGI
located in contractile muscle fiber	IDA IDA: Inferred from direct assay	21708977	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	9620080	MGI
located in cytosol	IDA IDA: Inferred from direct assay	15331634	MGI
located in fascia adherens	IDA IDA: Inferred from direct assay	11732910	MGI
located in gap junction	IDA IDA: Inferred from direct assay	7892609	MGI
located in intercalated disc	IDA IDA: Inferred from direct assay	15272007	MGI
located in intermediate filament	IDA IDA: Inferred from direct assay	16917092	MGI
located in lateral plasma membrane	IDA IDA: Inferred from direct assay	9620080	MGI
located in membrane	IDA IDA: Inferred from direct assay	15084279	MGI
located in plasma membrane	IDA IDA: Inferred from direct assay	14699011	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

gap junction alpha-1 protein

alpha 1 connexin	connexin k1
connexin-43	gap junction 43 kDa heart protein
gap junction membrane channel protein alpha 1

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05440	GJA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS18762	Gja1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS25249	Gja1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Gja1	NCBI	NCBI:2697

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