Gjb1 gap junction protein, beta 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gjb1provided by MGI
Official Full Name: gap junction protein, beta 1provided by MGI
Primary source: MGI:MGI:95719
See related: Ensembl:ENSMUSG00000047797 AllianceGenome:MGI:95719
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cx32; Cxng; Cnx32; connexin-32
Summary: This gene is a member of the gap junction protein (connexin) family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of ions and small molecules between cells. Mutations in a similar gene in human cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Oct 2014]
Expression: Biased expression in liver adult (RPKM 590.9), liver E18 (RPKM 193.1) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: X D; X 44.06 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (100419982..100429235)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (101376376..101385629)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury.
Title: Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury.
Dual-regulation by Cx32 in hepatocyte to trigger and worsen liver graft injury.
Title: Dual-regulation by Cx32 in hepatocyte to trigger and worsen liver graft injury.
Connexin32 Promotes the Activation of Foxo3a to Ameliorate Diabetic Nephropathy via Inhibiting the Polyubiquitination and Degradation of Sirt1.
Title: Connexin32 Promotes the Activation of Foxo3a to Ameliorate Diabetic Nephropathy via Inhibiting the Polyubiquitination and Degradation of Sirt1.
Connexin32 ameliorates epithelial-to-mesenchymal-transition in diabetic renal tubular via inhibiting NOX4.
Title: Connexin32 ameliorates epithelial-to-mesenchymal-transition in diabetic renal tubular via inhibiting NOX4.
Connexin32 ameliorates renal fibrosis in diabetic mice by promoting K48-linked NADPH oxidase 4 polyubiquitination and degradation.
Title: Connexin32 ameliorates renal fibrosis in diabetic mice by promoting K48-linked NADPH oxidase 4 polyubiquitination and degradation.
Effects of Connexin 32-Mediated Lung Inflammation Resolution During Liver Ischemia Reperfusion.
Title: Effects of Connexin 32-Mediated Lung Inflammation Resolution During Liver Ischemia Reperfusion.
Crosstalk Between Connexin32 and Mitochondrial Apoptotic Signaling Pathway Plays a Pivotal Role in Renal Ischemia Reperfusion-Induced Acute Kidney Injury.
Title: Crosstalk Between Connexin32 and Mitochondrial Apoptotic Signaling Pathway Plays a Pivotal Role in Renal Ischemia Reperfusion-Induced Acute Kidney Injury.
suggestive of a link between connexin-32 and Parkinson's disease pathophysiology
Title: Binding of α-synuclein oligomers to Cx32 facilitates protein uptake and transfer in neurons and oligodendrocytes.
Cx32 mediated reactive oxygen species/endoplasmic reticulum stress/apoptosis signal pathway activation played an important part in Ischemia-reperfusion-induced acute kidney injury.
Title: Connexin32 plays a crucial role in ROS-mediated endoplasmic reticulum stress apoptosis signaling pathway in ischemia reperfusion-induced acute kidney injury.
This study demonstrated that loss of Cx32 promote inflammation and increase vulnerability of myelinated fibers, as shown in Cx32KO mice following EAE induction.
Title: Regulatory role of oligodendrocyte gap junctions in inflammatory demyelination.

Submit: New GeneRIF Correction See all GeneRIFs (60)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI118175 (e-PCR)
- UniSTS:160898

Gjb1 (e-PCR), detects polymorphism
- UniSTS:496772

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	IEA Inferred from Electronic Annotation more info
enables gap junction channel activity	ISO Inferred from Sequence Orthology more info
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
involved_in epididymis development	IEA Inferred from Electronic Annotation more info
involved_in purine ribonucleotide transport	IEA Inferred from Electronic Annotation more info
involved_in purine ribonucleotide transport	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	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
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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 lateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gap junction beta-1 protein

Names: connexin 32; connexin g; connexin-43; gap junction membrane channel protein beta 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_001302496.1 → NP_001289425.1 gap junction beta-1 protein

See identical proteins and their annotated locations for NP_001289425.1

Status: REVIEWED

Description

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

Source sequence(s)

AA423068, AI849881, AK134742, AL683892, BY087537

Consensus CDS

CCDS30314.1

UniProtKB/Swiss-Prot

P28230

UniProtKB/TrEMBL

A0A654IEJ3

Related

ENSMUSP00000113904.2, ENSMUST00000119080.8

Conserved Domains (1) summary

pfam00029
Location:2 → 214

Connexin
NM_001302497.1 → NP_001289426.1 gap junction beta-1 protein

See identical proteins and their annotated locations for NP_001289426.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All of the variants encode the same protein.

Source sequence(s)

AA423068, AI849881, AK134742, AL683892, BE862747, BY087537

Consensus CDS

CCDS30314.1

UniProtKB/Swiss-Prot

P28230

UniProtKB/TrEMBL

A0A654IEJ3

Related

ENSMUSP00000113516.2, ENSMUST00000119190.2

Conserved Domains (1) summary

pfam00029
Location:2 → 214

Connexin
NM_001302498.1 → NP_001289427.1 gap junction beta-1 protein

See identical proteins and their annotated locations for NP_001289427.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All of the variants encode the same protein.

Source sequence(s)

AA423068, AI849881, AK134742, AL683892, BY087537, X84215

Consensus CDS

CCDS30314.1

UniProtKB/Swiss-Prot

P28230

UniProtKB/TrEMBL

A0A654IEJ3

Conserved Domains (1) summary

pfam00029
Location:2 → 214

Connexin
NM_008124.3 → NP_032150.2 gap junction beta-1 protein

See identical proteins and their annotated locations for NP_032150.2

Status: REVIEWED

Source sequence(s)

AA423068, AI849881, AK134742, AL683892, BY087537, BY105229

Consensus CDS

CCDS30314.1

UniProtKB/Swiss-Prot

P28230

UniProtKB/TrEMBL

A0A654IEJ3

Related

ENSMUSP00000062723.8, ENSMUST00000052130.14

Conserved Domains (1) summary

pfam00029
Location:2 → 214

Connexin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

100419982..100429235

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030251227.2 → XP_030107087.1 gap junction beta-1 protein isoform X1

UniProtKB/Swiss-Prot

P28230

UniProtKB/TrEMBL

A0A654IEJ3

Conserved Domains (1) summary

pfam00029
Location:2 → 214

Connexin