Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Summary Expression Phenotypes Gene Literature (111) GO Terms (4) Nucleotides (433) Proteins (53) Interactants (256) Wiki
XB-GENEPAGE-481037
???displayGene.symbol???:
 gjb1

???displayGene.name???: 
gap junction protein beta 1

???displayGene.synonyms???
cmtx , cmtx1 , connexin 30 , connexin-30 , connexin 32 , connexin32 [+] ( Nomenclature history )

???displayGene.geneFunction???
connexon channel component

Protein Function :
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.



???displayGene.geneInteractants???
Human Physical (43), Co-citation (213)

Diseases: 


Disease Ontology:
Charcot-Marie-Tooth disease X-linked dominant 1

MIM:
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1

External Links:
1/7
 
Gene ID & Location
Xenbase Gene ID XB-GENE-481038 XB-GENE-865435 XB-GENE-17342237
Gene Symbol gjb1 gjb1.L gjb1p.S
Chromosome Chr8 Chr8L Chr8S
???displayGene.molecues??? X. tropicalis X. laevis.L X. laevis.S
Genomic Sequence Version 10.0 Version 10.1 Version 10.1
CDS CDS Gene Model CDS Gene Model
Entrez Gene 407921 394373 108700063
Ensembl Gene gjb1 (ENSXETG00000026283)
mRNA RefSeq NCBI Nt  More.. RefSeq RefSeq  More..
Protein RefSeq  More.. RefSeq RefSeq  More..
Reference Proteome Q6NVT8 B7ZR95
AlphaFold View on AlphaFold View on AlphaFold
???displayGene.genomic??? X. tropicalis X. laevis.L X. laevis.S
Genome Browser
(Click image to open in interactive Genome Browser)
Genomic Synteny Xenbase Simple Synteny Genomicus PANTHER
???displayGene.expression???                  Development Stages                                               Embryonic Tissues                                                                Adult Tissues
Summary for
More Information
Xenbase Expression Details In situ images Single cell data at SPRING In situ: RNA-Seq:
Proteomics X. tropicalis X. laevis.L X. laevis.S
Embryonic Protein Expression Stage profile: gjb1.L
Orthology
Knowledgebases Entrez Gene Genetic Phenotypes Gene Expression
???displayGene.human???
HGNC, Alliance, Monarch, MIM, GeneCards GJB1 MIM Ensembl, Protein Atlas, Allen Brain Atlas
???displayGene.mouse???
MGI, Alliance Gjb1 MGI, IMPC Ensembl, Allen Brain Atlas, MGI
rat
RGD, Alliance Gjb1 Ensembl
???displayGene.zebrafish???
ZFIN, Alliance gjb1a  ZFIN Ensembl
chicken
GEISHA GJB1 Ensembl
fruit fly
Publications
First Cloning and expression of a Xenopus embryonic gap junction protein., Science 1989  
Most Recent A time-resolved single-cell roadmap of the logic driving anterior neural crest diversification from neural border to migration stages., Proc Natl Acad Sci U S A 2024     
All ???displayGene.papersAll??? 1 ???displayGene.morpholinoPapers??? 3 ???displayGene.omimPapers??? 4 ???displayGene.disOntPapers???
Functional Ontologies X. tropicalis X. laevis.L X. laevis.S
GO 2 terms 4 terms 0 terms
KEGG Pathways
KOG
Reagents X. tropicalis X. laevis.L X. laevis.S
CRISPRscan Tracks gjb1 gjb1.L gjb1p.S
ORFs gjb1 ORF1
Clones Horizon Horizon Horizon
Plasmids Addgene.org Addgene.org


Symbol legend: Blast sequence    View sequence    Literature or expression images   Hover cursor for info