Gja3 gap junction protein, alpha 3 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Gja3provided by RGD
Official Full Name: gap junction protein, alpha 3provided by RGD
Primary source: RGD:621820
See related: EnsemblRapid:ENSRNOG00000008847 AllianceGenome:RGD:621820
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Cxnj1
Summary: Enables gap junction hemi-channel activity and identical protein binding activity. Involved in response to hydrogen peroxide and response to pH. Located in gap junction and membrane raft. Used to study cataract. 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, Apr 2022]
Expression: Biased expression in Heart (RPKM 43.2), Muscle (RPKM 11.2) and 3 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 15p12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	15	NC_086033.1 (35296946..35322405, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	15	NC_051350.1 (31181360..31206820, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	15	NC_005114.4 (37298607..37325370, complement)

Chromosome 15 - NC_086033.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In agreement with the model and suggesting a conformational change that narrows the pore, Ca(2+) inhibits the water flux through Cx hemichannels. We conclude that Ca(2+) and voltage act allosterically to stabilize the closed conformation of Cx46 hemichannels.
Title: Calcium binding and voltage gating in Cx46 hemichannels.
the role of the charged residues at the end of TM-1 in voltage sensing in Cx26, Cx46, and Cx50.
Title: Charged Residues at the First Transmembrane Region Contribute to the Voltage Dependence of the Slow Gate of Connexins.
These results suggest that the C-terminal region of rCx46 up to A311 (rCx46(35.3)) is necessary for its correct compartmentalization and internalization in the form of annular junctions
Title: The role of the C-terminus in functional expression and internalization of rat connexin46 (rCx46).
Cx43 and Cx46 have novel functions in regulating each other's expression and turnover in a reciprocal manner in addition to their conventional roles as gap junction proteins in lens cells.
Title: Investigation of the reciprocal relationship between the expression of two gap junction connexin proteins, connexin46 and connexin43.
Data provide evidence that the activation and inhibition of PKC affect the rCx46-mediated membrane conductance as well as the voltage-dependent current inactivation in an inverse manner.
Title: Inactivation of expressed and conducting rCx46 hemichannels by phosphorylation.
Modulation of Cx46 hemichannels by nitric oxide.
Title: Modulation of Cx46 hemichannels by nitric oxide.
We propose that CKII-dependent phosphorylation in the C-terminus accelerates formation of rCx46-connexons.
Title: Phosphorylation in the C-terminus of the rat connexin46 (rCx46) and regulation of the conducting activity of the formed connexons.
Alteration of gap junction function (change in phosphorylation of Cx46) may be associated with development of selenite cataract, but neither Cx46 nor Cx50 is subject to well-characterized proteolysis associated with selenite cataract.
Title: Connexin 46 and connexin 50 in selenite cataract.
results demonstrate a new, robust means of regulating connexin hemichannels through a combination of extracellular monovalent and divalent cations, principally Na+, K+, and Ca2+
Title: Regulation of connexin hemichannels by monovalent cations.
A non-conservative missense mutation, Glu42Lys, was found in the gene of the rats with congenital cataracts; this mutation was likely to be responsible for the pathogenesis
Title: New genetic model rat for congenital cataracts due to a connexin 46 (Gja3 ) mutation.

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General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	IDA Inferred from Direct Assay more info	PubMed
enables gap junction hemi-channel activity	IDA Inferred from Direct Assay more info	PubMed
enables gap junction hemi-channel activity	IEA Inferred from Electronic Annotation 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	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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	IEA Inferred from Electronic Annotation 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	IDA Inferred from Direct Assay more info	PubMed
involved_in response to pH	IDA Inferred from Direct Assay more info	PubMed
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	IEA Inferred from Electronic Annotation 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	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: connexin j1; connexin-46; cx46; 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_024376.3 → NP_077352.2 gap junction alpha-3 protein

Status: VALIDATED

Source sequence(s)

JAXUCZ010000015

UniProtKB/Swiss-Prot

P29414

UniProtKB/TrEMBL

A6KHA8, G3V747

Related

ENSRNOP00000011699.2, ENSRNOT00000011699.6

Conserved Domains (1) summary

pfam00029
Location:3 → 233

Connexin