Gjc3 gap junction protein, gamma 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gjc3provided by MGI
Official Full Name: gap junction protein, gamma 3provided by MGI
Primary source: MGI:MGI:2153041
See related: Ensembl:ENSMUSG00000056966 AllianceGenome:MGI:2153041
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: Cx29; Gje1; Cxnp1
Summary: Enables identical protein binding activity. Acts upstream of or within myelination and sensory perception of sound. Located in myelin sheath. Is expressed in brain; sciatic nerve; and spinal cord. Orthologous to human GJC3 (gap junction protein gamma 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 12.0), cortex adult (RPKM 7.4) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 76.91 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (137949254..137961360, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (137950992..137963098, complement)

Chromosome 5 - NC_000071.7 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?

Induction of Cxs 29 and 32 in the injury border suggests that altered Cx expression may contribute to the propagation of injury-related and/or regeneration signals after acute brain injury.
Title: Expression of connexin29 and 32 in the penumbra region after traumatic brain injury of mice.
Cx23 seems to share functional properties with pannexin (hemi) channels rather than gap junction channels of other connexins.
Title: Mouse lens connexin23 (Gje1) does not form functional gap junction channels but causes enhanced ATP release from HeLa cells.
Homomeric interactions of Cx29 and Cx32 require other domains: the N-terminus, transmembrane domains, and extracellular loops. Substituting the intracellular loop and/or tail of Cx32 with those of Cx29 prevents Cx32 from forming functional gap junctions.
Title: Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct.
Cx29 is localized to the inner membrane of small myelin sheaths
Title: Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes.
Comparative mapping of Y1 and Y5 receptor subtypes within cell bodies and nerve fibers in the brain. Together with physiological and electrophysiological studies, provides better understanding of NPY neural circuitries.
Title: Connexin29 and connexin32 at oligodendrocyte and astrocyte gap junctions and in myelin of the mouse central nervous system.
Our data first provide a comprehensive and detailed pattern of Cx29 gene expression in the mouse and rat cochlea.
Title: Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea.
Cx29 is a second connexin expressed in Schwann cells of sciatic nerve.
Title: Connexin29 expression, immunocytochemistry and freeze-fracture replica immunogold labelling (FRIL) in sciatic nerve.
Thus, in contrast to connexin32 and connexin47, which are also expressed in myelinating cells, Cx29 does not contribute to the function of myelin in adult mice.
Title: Expression pattern and functional characterization of connexin29 in transgenic mice.
Findings demonstrated the requirement of Cx29 for normal cochlear functions and suggest that Cx29 is a new candidate gene for studying the auditory neuropathy.
Title: Connexin29 is highly expressed in cochlear Schwann cells, and it is required for the normal development and function of the auditory nerve of mice.
Cx29 protein expression was absent from neural crest cells but appeared as neural crest cells generated precursors (embryonic day 12) both in vivo and in vitro. This identifies Cx29 as a novel marker for cells of the defined Schwann cell lineage.
Title: Analysis of connexin expression during mouse Schwann cell development identifies connexin29 as a novel marker for the transition of neural crest to precursor cells.

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Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (4)

General gene information

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Markers

px-31f3 (e-PCR)
- UniSTS:257585

D5Mit221 (e-PCR), detects polymorphism
- UniSTS:116315

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

D12Got34 (e-PCR)
- UniSTS:112750

NoName (e-PCR)
- UniSTS:494234

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	ISA Inferred from Sequence Alignment more info	PubMed
enables identical 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
acts_upstream_of_or_within cell-cell signaling	ISA Inferred from Sequence Alignment more info	PubMed
acts_upstream_of_or_within myelination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in gap junction	ISA Inferred from Sequence Alignment more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in myelin sheath	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gap junction gamma-3 protein

Names: connexin p1; connexin-29; gap junction epsilon-1 protein; gap junction membrane channel protein epsilon 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_080450.5 → NP_536698.2 gap junction gamma-3 protein

See identical proteins and their annotated locations for NP_536698.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer, protein-coding transcript.

Source sequence(s)

AK047368, AW495171, BY741110

Consensus CDS

CCDS19782.1

UniProtKB/Swiss-Prot

Q53ZP5, Q8BHJ3, Q921C1

UniProtKB/TrEMBL

A0A654ICL5

Related

ENSMUSP00000076367.7, ENSMUST00000077119.8

Conserved Domains (3) summary

smart00037
Location:54 → 86

CNX; Connexin homologues

smart01089
Location:159 → 225

Connexin_CCC; Gap junction channel protein cysteine-rich domain

pfam00029
Location:16 → 226

Connexin; Connexin

RNA

NR_151611.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC125212