GJC1 (gap junction protein gamma 1)

2007-02-01  

Identity

HGNC
GJC1
LOCATION
17q21.31
LOCUSID
10052
ALIAS
CX45,GJA7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10052
MIM: 608655
HGNC: 4280
Ensembl: ENSG00000182963

Variants:

dbSNP: 10052
ClinVar: 10052
TCGA: ENSG00000182963
COSMIC: GJC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182963ENST00000330514P36383
ENSG00000182963ENST00000426548P36383
ENSG00000182963ENST00000586267K7ENT9
ENSG00000182963ENST00000586347K7ERH3
ENSG00000182963ENST00000587113Q5H9P2
ENSG00000182963ENST00000587239K7EQ14
ENSG00000182963ENST00000590758P36383
ENSG00000182963ENST00000591424K7EM78
ENSG00000182963ENST00000592524P36383

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Transmission across Electrical SynapsesREACTOMER-HSA-112307
Electric Transmission Across Gap JunctionsREACTOMER-HSA-112303
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Gap junction trafficking and regulationREACTOMER-HSA-157858
Gap junction traffickingREACTOMER-HSA-190828
Gap junction assemblyREACTOMER-HSA-190861

References

Pubmed IDYearTitleCitations
376844042023The role of the Cx43/Cx45 gap junction voltage gating on wave propagation and arrhythmogenic activity in cardiac tissue.0
376844042023The role of the Cx43/Cx45 gap junction voltage gating on wave propagation and arrhythmogenic activity in cardiac tissue.0
334291062021Connexin45 (GJC1) loss-of-function mutation contributes to familial atrial fibrillation and conduction disease.15
334291062021Connexin45 (GJC1) loss-of-function mutation contributes to familial atrial fibrillation and conduction disease.15
330035472020Identification of Cx45 as a Major Component of GJs in HeLa Cells.11
330035472020Identification of Cx45 as a Major Component of GJs in HeLa Cells.11
305945392019Effects of temperature on transjunctional voltage-dependent gating kinetics in Cx45 and Cx40 gap junction channels.3
305945392019Effects of temperature on transjunctional voltage-dependent gating kinetics in Cx45 and Cx40 gap junction channels.3
300782152018High glucose stimulates proliferative capacity of liver cancer cells possibly via O-GlcNAcylation-dependent transcriptional regulation of GJC1.7
300782152018High glucose stimulates proliferative capacity of liver cancer cells possibly via O-GlcNAcylation-dependent transcriptional regulation of GJC1.7
283520862017Enhanced generation of human induced pluripotent stem cells by ectopic expression of Connexin 45.6
287605642017Junctional delay, frequency, and direction-dependent uncoupling of human heterotypic Cx45/Cx43 gap junction channels.10
289633432017Direct visualization of interaction between calmodulin and connexin45.15
283520862017Enhanced generation of human induced pluripotent stem cells by ectopic expression of Connexin 45.6
287605642017Junctional delay, frequency, and direction-dependent uncoupling of human heterotypic Cx45/Cx43 gap junction channels.10

Citation

Dessen P

GJC1 (gap junction protein gamma 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43640/css/lib/gene-fusions-explorer/css/card-gene.css