GJA1 (gap junction protein alpha 1)

2003-02-01  

Identity

HGNC
GJA1
LOCATION
6q22.31
LOCUSID
2697
ALIAS
AVSD3,CMDR,CX43,EKVP,EKVP3,GJAL,HLHS1,HSS,ODDD,PPKCA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2697
MIM: 121014
HGNC: 4274
Ensembl: ENSG00000152661

Variants:

dbSNP: 2697
ClinVar: 2697
TCGA: ENSG00000152661
COSMIC: GJA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152661ENST00000282561P17302
ENSG00000152661ENST00000647564P17302
ENSG00000152661ENST00000649003P17302
ENSG00000152661ENST00000650427P17302

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500
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
Gap junctionKEGGko04540
Gap junctionKEGGhsa04540
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
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
Transport of connexins along the secretory pathwayREACTOMER-HSA-190827
Oligomerization of connexins into connexonsREACTOMER-HSA-190704
Transport of connexons to the plasma membraneREACTOMER-HSA-190872
Microtubule-dependent trafficking of connexons from Golgi to the plasma membraneREACTOMER-HSA-190840
Gap junction degradationREACTOMER-HSA-190873
Formation of annular gap junctionsREACTOMER-HSA-196025
Regulation of gap junction activityREACTOMER-HSA-191650
c-src mediated regulation of Cx43 function and closure of gap junctionsREACTOMER-HSA-191647

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381453022024Human Cx50 Isoleucine177 prevents heterotypic docking and formation of functional gap junction channels with Cx43.1
382546632024Casein Kinase 1 Phosphomimetic Mutations Negatively Impact Connexin-43 Gap Junctions in Human Pluripotent Stem Cell-Derived Cardiomyocytes.0
383936582024Post translational modifications of connexin 43 in ventricular arrhythmias after myocardial infarction.0
385979892024The E3 ubiquitin ligase ITCH negatively regulates intercellular communication via gap junctions by targeting connexin43 for lysosomal degradation.0
385990612024NGF increases Connexin-43 expression and function in pulmonary arterial smooth muscle cells to induce pulmonary artery hyperreactivity.0
386226962024KLF5 promotes the ossification process of ligamentum flavum by transcriptionally activating CX43.0
381453022024Human Cx50 Isoleucine177 prevents heterotypic docking and formation of functional gap junction channels with Cx43.1
382546632024Casein Kinase 1 Phosphomimetic Mutations Negatively Impact Connexin-43 Gap Junctions in Human Pluripotent Stem Cell-Derived Cardiomyocytes.0
383936582024Post translational modifications of connexin 43 in ventricular arrhythmias after myocardial infarction.0
385979892024The E3 ubiquitin ligase ITCH negatively regulates intercellular communication via gap junctions by targeting connexin43 for lysosomal degradation.0
385990612024NGF increases Connexin-43 expression and function in pulmonary arterial smooth muscle cells to induce pulmonary artery hyperreactivity.0
386226962024KLF5 promotes the ossification process of ligamentum flavum by transcriptionally activating CX43.0
359426752023Identification of Cx43 variants predisposing to ventricular fibrillation in the acute phase of ST-elevation myocardial infarction.2
363965932023Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.0
366746902023The Involvement of Cx43 in JNK1/2-Mediated Endothelial Mechanotransduction and Human Plaque Progression.1

Citation

Dessen P

GJA1 (gap junction protein alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40714/favicon/case-report-explorer/gene-explorer/