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Full name:: Gap Junction Protein, beta 1, 32kDa Proteins (GJB1)

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Synonyms:: AI118175, CMTX, CMTX1, Cnx32, connexin-30, connexin32, cx30, Cx32, gja1, Gjb-1, GJB1, gjb1-a, GJIC

list all proteins	Gene Name	GeneID	UniProt
	GJB1	14618	P28230
Rat GJB1	GJB1	29584	P08033
	GJB1	2705	P08034
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Mouse (Murine) Gap Junction Protein, beta 1, 32kDa (GJB1) interaction partners

Blocking of connexin32 or connexin43 (show GJA1 Proteins) hemichannels decreased serum levels of pro-inflammatory cytokines, and reduced acetaminophen-induced liver injury.
The results of this study indicated that the Leu89Pro substitution in the second transmembrane domain of CX32 disrupts the trafficking of the protein, inhibiting the assembly of CX32 gap junctions, which in turn may result in peripheral neuropathy.
We show that the cell-surface and secreted isoforms of CSF-1 (show CSF1 Proteins) have opposing effects on macrophage activation and disease progression in a mouse model of connexin32-deficientconnexin32-deficient mice
Results identify CSF-1 (show CSF1 Proteins)-activated macrophages as crucial mediators of detrimental Schwann cell dedifferentiation in Cx32-deficient mice
Blockade of endothelial Cx32 increased tissue factor (show F3 Proteins) expression induced by TNF-alpha (show TNF Proteins) stimulation and cell-cell interaction via ICAM1 (show ICAM1 Proteins). Direct Cx32-mediated interaction modulates TF expression in ECs during vascular inflammation.
These findings support a role for Cx32 in non-myelinating and regenerating populations of Schwann cells in normal axonal maintenance in re-myelination, and regeneration of peripheral nerve following injury
Connexin32 interacts with connexin26 (show GJB2 Proteins) and the mitochondrial protein (show COX6B2 Proteins), sideroflexin-1 (show SFXN1 Proteins), at the plasma membrane forming a novel signaling nexus.
These results demonstrate that the incidence of hepatocellular carcinoma increases only in male Cx32KO mice, presumably due to enhanced tumor promotion and progression signals associated with Cx32 deficiency.
Cx32 is differentially phosphorylated and exists in a complex with SAP97 and CaM.
Cx32 therapy improves gap junctional conductance results in larger infarct size, and no antiarrhythmic efficacy.

Human Gap Junction Protein, beta 1, 32kDa (GJB1) interaction partners

Study describes a novel mutation deleting entire P2 promoter of GJB1 gene in a single large family with X-linked Charcot-Marie-Tooth disease. Inheritance and phenotype of affected individuals had classical features of X linked peripheral neuropathy. This study affirms the role of P2 promoter being vital for Schwann cell function.
our results suggest that Cx32 inhibits Hepatocellular carcinoma (HCC (show FAM126A Proteins)) invasion and metastasis through Snail (show SNAI1 Proteins)-mediated EMT (show ITK Proteins), Cx32 and this signaling pathway molecules may offer potential targets for HCC (show FAM126A Proteins) cancer therapy
The study indicated that CNS impairment was not rare in Chinese CMT1X patients. Mutations in the EC2 (show TCF15 Proteins) domain of the GJB1 gene were hotspot in Chinese CMT1X patients.
Abnormal Cx32 expression/localization in cervical cancer appears to be both a mechanism and biomarker of chemotherapeutic resistance.
Study reports mutation frequency of GJB1 in 210 Hungarian Charcot-Marie-Tooth neuropathy (CMT) patients and phenotype comparison between male and female CMT X type 1 patients. 13 missense substitutions were found in GJB1; pathogenic alterations were found mainly in males. Statistical analysis of CMT X type 1 patients revealed a significant difference between genders regarding the age of onset, CMT and examination scores.
In conclusion, mutation screening should be first performed in intermediate Charcot-Marie-Tooth patients, especially those with additional features. The novel GJB1 variants c.5A>G, c.8G>A, c.242T>C and c.269T>C are considered pathogenic, and c.317T>C and c.434T>G are classified as probably pathogenic.
Certain Golgi-retained Cx32 mutants may interfere with exogenously delivered Cx32. Screening for mutant-wild type Cx32 interactions should be considered prior to planning gene addition therapy for CMT1X.
Clear clinical/electrophysiological sex differences (intra- and inter family) were shown in patients with hereditary motor-sensory neuropathy 1X with the small es, Cyrillic.259C>G (small er, Cyrillic.P87A) mutation in the GJB1 gene.
In summary, Cx32 is involved in cisplatin resistance, and cytoplasmic Cx32 plays an important role in chemoresistance.
Mutations in noncoding DNA of GJB1 are a major cause of CMTX1 and highlight the importance of mutations in noncoding DNA in human disease.

Cow (Bovine) Gap Junction Protein, beta 1, 32kDa (GJB1) interaction partners

intermediate invasive status of bovine trophoblast is supported by the fact that trophoblast giant cells coexpress connexins (Cx)26 (show GJB2 Proteins), Cx32, and Cx43 (show GJA1 Proteins)

Gap Junction Protein, beta 1, 32kDa (GJB1) Protein Profile

Protein Summary

This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene.

Alternative names and synonyms associated with Gap Junction Protein, beta 1, 32kDa (GJB1)

gap junction protein beta 1 (gjb1)
connexin 32 (CX32)
probable serine/threonine-protein kinase CST (LOC9303136)
gap junction protein beta 1 (GJB1)
gap junction protein, beta 1 (Gjb1)
gap junction protein beta 1 (Gjb1)
gap junction protein beta 1 L homeolog (gjb1.L)

AI118175 protein
CMTX protein
CMTX1 protein
Cnx32 protein
connexin-30 protein
connexin32 protein
cx30 protein
Cx32 protein
gja1 protein
Gjb-1 protein
GJB1 protein
gjb1-a protein
GJIC protein

Protein level used designations for GJB1

connexin 30 , connexin 32 , gap junction protein, beta 1, 32kDa , connexin-32 , connexin-43 , gap junction beta-1 protein , gap junction membrane channel protein beta 1 , GAP junction 28 kDa liver protein , connexin32 , cx32 , gap junction protein, beta 1, 32 kD , gap junction protein beta 1 , connexin-30 , cx30

GENE ID	SPECIES
407921	Xenopus (Silurana) tropicalis
443234	Ovis aries
9303136	Arabidopsis lyrata subsp. lyrata
465696	Pan troglodytes
706327	Macaca mulatta
14618	Mus musculus
29584	Rattus norvegicus
100379282	Cavia porcellus
2705	Homo sapiens
378797	Gallus gallus
480953	Canis lupus familiaris
281194	Bos taurus
100008934	Oryctolagus cuniculus
100034021	Equus caballus
394373	Xenopus laevis

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