Gja3 gap junction protein, alpha 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gja3provided by MGI
Official Full Name: gap junction protein, alpha 3provided by MGI
Primary source: MGI:MGI:95714
See related: Ensembl:ENSMUSG00000048582 AllianceGenome:MGI:95714
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; Cx46; Cnx46; Cxnj1; Gja-3
Summary: Predicted to enable gap junction hemi-channel activity and identical protein binding activity. Predicted to be involved in several processes, including gap junction-mediated intercellular transport; response to hydrogen peroxide; and response to pH. Located in gap junction and plasma membrane. Is expressed in chondrocranium; lens; metanephros; and testis. Used to study cataract 14 multiple types. Human ortholog(s) of this gene implicated in cataract 14 multiple types. Orthologous to human GJA3 (gap junction protein alpha 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in heart adult (RPKM 6.5) and limb E14.5 (RPKM 0.9) See more
Orthologs: human all
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Genomic context

Location:: 14 C3; 14 29.82 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (57271917..57295487, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (57034460..57058030, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Connexins 30 and 43 expression changes in relation to age-related hearing loss.
Title: Connexins 30 and 43 expression changes in relation to age-related hearing loss.
Levels and Modifications of Both Lens Fiber Cell Connexins Are Affected in Connexin Mutant Mice.
Title: Levels and Modifications of Both Lens Fiber Cell Connexins Are Affected in Connexin Mutant Mice.
Do Connexin Mutants Cause Cataracts by Perturbing Glutathione Levels and Redox Metabolism in the Lens?
Title: Do Connexin Mutants Cause Cataracts by Perturbing Glutathione Levels and Redox Metabolism in the Lens?
that expression and phosphorylation of connexin 46 and connexin 45 are complementary in seminiferous tubules
Title: Complementary expression and phosphorylation of Cx46 and Cx50 during development and following gene deletion in mouse and in normal and orchitic mink testes.
The localization and sizes of Cx50 gap junction plaques in DKO fibers were unaffected, suggesting that Cx46 and Cx50 form homomeric channels
Title: Lens ion homeostasis relies on the assembly and/or stability of large connexin 46 gap junction plaques on the broad sides of differentiating fiber cells.
Data indicate that connexin 46 (cx46) is essential for the maintenance of adequate levels of glutathione (GSH) in the lens nucleus.
Title: Connexin 46 (cx46) gap junctions provide a pathway for the delivery of glutathione to the lens nucleus.
Cx46 was severely reduced in both heterozygous and homozygous Cx46fs380 lenses at 1 month of age, whereas immunoreactive connexin50 (Cx50) was moderately decreased.
Title: Connexin46fs380 causes progressive cataracts.
Results suggest that Cx46 hemichannels may contribute to the sodium leak conductance in lens fiber cells.
Title: Cx46 hemichannels contribute to the sodium leak conductance in lens fiber cells.
Data show that Ca(V) 1.2 and 1.3 channels are expressed in lens, regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexins 50 and 46.
Title: L-type calcium channels play a critical role in maintaining lens transparency by regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexins.
These results provide further evidence that Cx43 and Cx46 form both heterotypic and heteromeric channels when co-expressed.
Title: Functional analysis of hemichannels and gap-junctional channels formed by connexins 43 and 46.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14Dcr4 (e-PCR), detects polymorphism
- UniSTS:507501

Gja3 (e-PCR), detects polymorphism
- UniSTS:496767

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	ISO Inferred from Sequence Orthology more info
enables gap junction hemi-channel activity	ISO Inferred from Sequence Orthology more info
enables gap junction hemi-channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell communication	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in gap junction-mediated intercellular transport	ISO Inferred from Sequence Orthology more info
involved_in gap junction-mediated intercellular transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to hydrogen peroxide	ISO Inferred from Sequence Orthology more info
involved_in response to pH	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of connexin complex	ISO Inferred from Sequence Orthology more info
part_of connexin complex	ISS Inferred from Sequence or Structural Similarity 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 plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: gap junction alpha-3 protein

Names: alpha 3 connexin; connexin j1; connexin-46; gap junction membrane channel protein alpha 3

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_001271623.1 → NP_001258552.1 gap junction alpha-3 protein

See identical proteins and their annotated locations for NP_001258552.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC119952, AK136383, BC138492, BM125285, BQ554641

Consensus CDS

CCDS27152.1

UniProtKB/Swiss-Prot

B2RRM1, Q64448

UniProtKB/TrEMBL

A0A654ICY8

Conserved Domains (1) summary

pfam00029
Location:3 → 233

Connexin
NM_016975.3 → NP_058671.2 gap junction alpha-3 protein

See identical proteins and their annotated locations for NP_058671.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK136383, BC138492, BM125285

Consensus CDS

CCDS27152.1

UniProtKB/Swiss-Prot

B2RRM1, Q64448

UniProtKB/TrEMBL

A0A654ICY8

Related

ENSMUSP00000059587.7, ENSMUST00000061614.8

Conserved Domains (1) summary

pfam00029
Location:3 → 233

Connexin