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Gja1 - gap junction protein, alpha 1 Gene

Also Known as Cx43; Cxnk1

Species: Rattus norvegicus

Gene Type: protein coding

Gene ID: 24392

Summary

Enables connexin binding activity; gap junction channel activity; and protein domain specific binding activity. Involved in several processes, including blood vessel diameter maintenance; negative regulation of cell population proliferation; and reproductive structure development. Located in several cellular components, including endosome; fascia adherens; and gap junction. Part of connexin complex. Used to study Parkinsonism; amnestic disorder; high grade glioma; and myocardial infarction. Biomarker of several diseases, including artery disease (multiple); autoimmune thyroiditis; borna disease; ischemia (multiple); and tongue squamous cell carcinoma. 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_012567.2	NP_036699.1	gap junction alpha-1 protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables PDZ domain binding	IPI IPI: Inferred from physical interaction	14699011	RGD
enables SH3 domain binding	EXP EXP: Inferred from Experiment	15492000	RGD
enables SH3 domain binding	IDA IDA: Inferred from direct assay	14699011	RGD
enables SH3 domain binding	IPI IPI: Inferred from physical interaction	14699011	RGD
enables connexin binding	IPI IPI: Inferred from physical interaction	11557558	RGD
enables disordered domain specific binding	IPI IPI: Inferred from physical interaction	19808665	RGD
enables gap junction channel activity	IDA IDA: Inferred from direct assay	15048573	RGD
enables protein binding	IPI IPI: Inferred from physical interaction	15181016	RGD
enables protein domain specific binding	IDA IDA: Inferred from direct assay	17008717	RGD

Biological Process GO Annotation	Evidence	References	Source
involved in ATP transport	IMP IMP: Inferred from mutant phenotype	16731531	RGD
involved in cell-cell signaling	IDA IDA: Inferred from direct assay	15048573	RGD
involved in cellular response to mechanical stimulus	IEP IEP: Inferred from expression pattern	10631100	RGD
involved in cellular response to parathyroid hormone stimulus	IEP IEP: Inferred from expression pattern	11159864	RGD
involved in chronic inflammatory response	IMP IMP: Inferred from mutant phenotype	23165424	RGD
involved in decidualization	IEP IEP: Inferred from expression pattern	8924512	RGD
involved in endothelium development	IEP IEP: Inferred from expression pattern	10990491	RGD
involved in epididymis development	IEP IEP: Inferred from expression pattern	12388089	RGD
involved in heart development	IEP IEP: Inferred from expression pattern	8944820	RGD
involved in maintenance of protein localization in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15817491	RGD
involved in negative regulation of DNA biosynthetic process	IDA IDA: Inferred from direct assay	14702389	RGD
involved in negative regulation of cardiac muscle cell proliferation	IMP IMP: Inferred from mutant phenotype	19377854	RGD
involved in negative regulation of cell growth	IMP IMP: Inferred from mutant phenotype	15181016	RGD
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	12952975	RGD
involved in negative regulation of endothelial cell proliferation	IMP IMP: Inferred from mutant phenotype	18172080	RGD
involved in neuron projection morphogenesis	IMP IMP: Inferred from mutant phenotype	16731531	RGD
involved in positive regulation of behavioral fear response	IMP IMP: Inferred from mutant phenotype	22665389	RGD
involved in positive regulation of cell communication by chemical coupling	IMP IMP: Inferred from mutant phenotype	15678088	RGD
involved in positive regulation of cytosolic calcium ion concentration	IMP IMP: Inferred from mutant phenotype	22577485	RGD
involved in positive regulation of establishment of Sertoli cell barrier	IMP IMP: Inferred from mutant phenotype	26678449	RGD
involved in positive regulation of glomerular filtration	IMP IMP: Inferred from mutant phenotype	18046320	RGD
involved in positive regulation of insulin secretion	IMP IMP: Inferred from mutant phenotype	24301293	RGD
involved in positive regulation of meiotic nuclear division	IMP IMP: Inferred from mutant phenotype	26678449	RGD
involved in positive regulation of protein catabolic process	IDA IDA: Inferred from direct assay	12952975	RGD
involved in positive regulation of vasoconstriction	IMP IMP: Inferred from mutant phenotype	21414209	RGD
involved in regulation of actin filament organization	IMP IMP: Inferred from mutant phenotype	26678449	RGD
involved in regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	17761141	RGD
involved in regulation of bicellular tight junction assembly	IMP IMP: Inferred from mutant phenotype	19509333	RGD
involved in regulation of calcium ion transport	IMP IMP: Inferred from mutant phenotype	16878174	RGD
involved in regulation of cell communication by electrical coupling	IDA IDA: Inferred from direct assay	11557558	RGD
involved in regulation of transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	15284189	RGD
involved in response to estradiol	IEP IEP: Inferred from expression pattern	25798059	RGD
involved in response to fluid shear stress	IEP IEP: Inferred from expression pattern	15558296	RGD
involved in response to glucose	IEP IEP: Inferred from expression pattern	21567444	RGD
involved in response to ischemia	IEP IEP: Inferred from expression pattern	24728265	RGD
involved in response to lipopolysaccharide	IEP IEP: Inferred from expression pattern	10909894	RGD
involved in response to pH	IDA IDA: Inferred from direct assay	14699011	RGD
involved in response to peptide hormone	IEP IEP: Inferred from expression pattern	12700188	RGD
involved in response to retinoic acid	IEP IEP: Inferred from expression pattern	9570757	RGD
involved in spermatogenesis	IMP IMP: Inferred from mutant phenotype	26678449	RGD
involved in transmembrane transport	IDA IDA: Inferred from direct assay	15284189	RGD
involved in vascular transport	IMP IMP: Inferred from mutant phenotype	16878174	RGD
involved in vasodilation	IMP IMP: Inferred from mutant phenotype	15301736	RGD

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	18162583	RGD
part of connexin complex	IDA IDA: Inferred from direct assay	1371548	RGD
part of connexin complex	IMP IMP: Inferred from mutant phenotype	19808665	RGD
located in early endosome	IDA IDA: Inferred from direct assay	16162097	RGD
located in endosome	IDA IDA: Inferred from direct assay	19808888	RGD
located in fascia adherens	IDA IDA: Inferred from direct assay	9851942	RGD
located in gap junction	IDA IDA: Inferred from direct assay	15048573	RGD
located in intercalated disc	IDA IDA: Inferred from direct assay	25332002	RGD
located in late endosome	IDA IDA: Inferred from direct assay	16162097	RGD
located in membrane	IDA IDA: Inferred from direct assay	19723622	RGD
located in membrane raft	IDA IDA: Inferred from direct assay	18162583	RGD
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	17107662	RGD
located in multivesicular body	IDA IDA: Inferred from direct assay	16162097	RGD
located in plasma membrane	IDA IDA: Inferred from direct assay	18162583	RGD
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	17673670	RGD
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	15492000	RGD

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

Gja1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	Gja1	P08050	Sgsm3	Mus musculus	Q8VCZ6	Y2H	15709751
Cross	Gja1	P08050	Sgsm3	Mus musculus	Q8VCZ6	Anti Tag CoIP	15709751
Cross	Gja1	P08050	Sgsm3	Mus musculus	Q8VCZ6	Affinity Chrom	15709751
Cross	Gja1	P08050	UBQLN4	Homo sapiens	Q9NRR5	Anti Bait CoIP	20940304

Cross: Cross-species interaction Intra: Intraspecies interaction

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