Gja1 gap junction protein, alpha 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gja1provided by MGI
Official Full Name: gap junction protein, alpha 1provided by MGI
Primary source: MGI:MGI:95713
See related: Ensembl:ENSMUSG00000050953 AllianceGenome:MGI:95713
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cx43; Npm1; Cnx43; Cxnk1; Gja-1; Cx43alpha1; connexin43
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]
Expression: Broad expression in ovary adult (RPKM 68.8), heart adult (RPKM 61.3) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B4; 10 28.64 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (56253297..56266519)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (56377300..56390419)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Down-regulation of connexin 43 contributes to structure and function of pulmonary artery in nicotine-administered mice.
Title: Down-regulation of connexin 43 contributes to structure and function of pulmonary artery in nicotine-administered mice.
Mitochondrial connexin43 and mitochondrial KATP channels modulate triggered arrhythmias in mouse ventricular muscle.
Title: Mitochondrial connexin43 and mitochondrial K(ATP) channels modulate triggered arrhythmias in mouse ventricular muscle.
Mirror image pain mediated by D2 receptor regulation of astrocytic Cx43 phosphorylation and channel opening.
Title: Mirror image pain mediated by D2 receptor regulation of astrocytic Cx43 phosphorylation and channel opening.
Connexin 43 trafficking and regulation of gap junctional intercellular communication alters ovarian cancer cell migration and tumorigenesis.
Title: Connexin 43 trafficking and regulation of gap junctional intercellular communication alters ovarian cancer cell migration and tumorigenesis.
CYLD deubiquitinates plakoglobin to promote Cx43 membrane targeting and gap junction assembly in the heart.
Title: CYLD deubiquitinates plakoglobin to promote Cx43 membrane targeting and gap junction assembly in the heart.
Astrocytic connexin 43 deletion ameliorates SNI-induced neuropathic pain by reducing microglia activation.
Title: Astrocytic connexin 43 deletion ameliorates SNI-induced neuropathic pain by reducing microglia activation.
Connexin 43 Channels in Osteocytes Are Necessary for Bone Mass and Skeletal Muscle Function in Aged Male Mice.
Title: Connexin 43 Channels in Osteocytes Are Necessary for Bone Mass and Skeletal Muscle Function in Aged Male Mice.
Expression of the methylcytosine dioxygenase ten-eleven translocation-2 and connexin 43 in inflammatory bowel disease and colorectal cancer.
Title: Expression of the methylcytosine dioxygenase ten-eleven translocation-2 and connexin 43 in inflammatory bowel disease and colorectal cancer.
Connexin 43 hemichannels regulate mitochondrial ATP generation, mobilization, and mitochondrial homeostasis against oxidative stress.
Title: Connexin 43 hemichannels regulate mitochondrial ATP generation, mobilization, and mitochondrial homeostasis against oxidative stress.
Zika Virus Infection Downregulates Connexin 43, Disrupts the Cardiomyocyte Gap Junctions and Induces Heart Diseases in A129 Mice.
Title: Zika Virus Infection Downregulates Connexin 43, Disrupts the Cardiomyocyte Gap Junctions and Induces Heart Diseases in A129 Mice.

Submit: New GeneRIF Correction See all GeneRIFs (523)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (27) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit88 (e-PCR), detects polymorphism
- UniSTS:126273

PMC151788P1 (e-PCR)
- UniSTS:271174

AW546267 (e-PCR)
- UniSTS:180039

Gja1 (e-PCR), detects polymorphism
- UniSTS:496766

X61576 (e-PCR)
- UniSTS:125830

PMC55565P1 (e-PCR)
- UniSTS:273349

Gja1 (e-PCR), detects polymorphism
- UniSTS:166615

Gja1 (e-PCR), detects polymorphism
- UniSTS:546790

AU042049 (e-PCR)
- UniSTS:159981

Homology

Homologs of the Gja1 gene: The Gja1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 344 organisms have orthologs with human gene Gja1
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables SH3 domain binding	ISO Inferred from Sequence Orthology more info
enables alpha-tubulin binding	ISO Inferred from Sequence Orthology more info
enables beta-catenin binding	ISO Inferred from Sequence Orthology more info
enables beta-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables connexin binding	ISO Inferred from Sequence Orthology more info
enables disordered domain specific binding	ISO Inferred from Sequence Orthology more info
enables efflux transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables gap junction channel activity	IDA Inferred from Direct Assay more info	PubMed
enables gap junction channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables gap junction channel activity	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity involved in cardiac conduction electrical coupling	TAS Traceable Author Statement more info	PubMed
enables gap junction channel activity involved in cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info
enables gap junction hemi-channel activity	ISO Inferred from Sequence Orthology more info
enables glutathione transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
enables monoatomic ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein tyrosine kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables scaffold protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables tubulin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ATP transport	ISO Inferred from Sequence Orthology more info
involved_in T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adult heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within atrial ventricular junction remodeling	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell communication	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell communication by chemical coupling	IDA Inferred from Direct Assay more info	PubMed
involved_in cell communication by electrical coupling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within cell communication by electrical coupling	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell-cell junction organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within cell-cell signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell signaling	ISO Inferred from Sequence Orthology more info
involved_in cellular response to amyloid-beta	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to pH	IDA Inferred from Direct Assay more info	PubMed
involved_in chronic inflammatory response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within columnar/cuboidal epithelial cell maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic heart tube development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epicardial cell to mesenchymal cell transition	TAS Traceable Author Statement more info	PubMed
involved_in establishment of epithelial cell polarity	TAS Traceable Author Statement more info	PubMed
involved_in export across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glutamate secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of protein localization in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
involved_in male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within milk ejection reflex	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cardiac muscle cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of wound healing	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuroblast migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of behavioral fear response	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell communication by chemical coupling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of establishment of Sertoli cell barrier	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of glomerular filtration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of insulin secretion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of meiotic nuclear division	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of striated muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vasoconstriction	ISO Inferred from Sequence Orthology more info
involved_in regulation of actin filament organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of atrial cardiac muscle cell membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of bicellular tight junction assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of blood vessel remodeling	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of bone remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane depolarization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane repolarization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to pH	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal muscle tissue regeneration	IDA Inferred from Direct Assay more info	PubMed
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in vascular transport	ISO Inferred from Sequence Orthology more info
involved_in vasodilation	ISO Inferred from Sequence Orthology more info
involved_in xenobiotic transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cell-cell contact zone	ISO Inferred from Sequence Orthology more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of connexin complex	ISO Inferred from Sequence Orthology more info
located_in contractile fiber	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in fascia adherens	IDA Inferred from Direct Assay more info	PubMed
located_in fascia adherens	ISO Inferred from Sequence Orthology more info
located_in gap junction	IDA Inferred from Direct Assay more info	PubMed
located_in gap junction	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	IDA Inferred from Direct Assay more info	PubMed
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in intermediate filament	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in multivesicular body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in tight junction	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gap junction alpha-1 protein

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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010288.3 → NP_034418.1 gap junction alpha-1 protein

See identical proteins and their annotated locations for NP_034418.1

Status: VALIDATED

Source sequence(s)

AK081668, AK145692, BY061175

Consensus CDS

CCDS23851.1

UniProtKB/Swiss-Prot

P23242, Q8CE05

UniProtKB/TrEMBL

A0A654ICD2, A0A6P5QJ48, A0A8C6I6W9, Q8C4N2

Related

ENSMUSP00000064536.8, ENSMUST00000068581.9

Conserved Domains (2) summary

pfam00029
Location:3 → 233

Connexin

pfam03508
Location:293 → 312

Connexin43; Gap junction alpha-1 protein (Cx43)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

56253297..56266519

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036155617.1 → XP_036011510.1 gap junction alpha-1 protein isoform X1

UniProtKB/Swiss-Prot

Q8CE05

UniProtKB/TrEMBL

A0A654ICD2, A0A6P5QJ48, A0A8C6I6W9

Related

ENSMUSP00000151620.2, ENSMUST00000220069.2

Conserved Domains (2) summary

pfam00029
Location:3 → 233

Connexin

pfam03508
Location:293 → 312

Connexin43; Gap junction alpha-1 protein (Cx43)