Gja1 - gap junction protein, alpha 1 Gene

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

Species: Mus musculus

Gene Type: protein coding
Gene ID: 14609

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 References 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 References 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 References 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

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 Set / Unkown
HY-RS18762 Gja1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25249 Gja1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Gja1 NCBI NCBI:2697