GJA1 (gap junction protein alpha 1)

2003-02-01  

Identity

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

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

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

References

Pubmed IDYearTitleCitations
193961692009A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.350
124573402003Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.177
131300722003Gating and regulation of connexin 43 (Cx43) hemichannels.153
214116282011Connexin 43 connexon to gap junction transition is regulated by zonula occludens-1.122
213859042011MiR-218 suppresses nasopharyngeal cancer progression through downregulation of survivin and the SLIT2-ROBO1 pathway.116
117419422002Transduction of cell survival signals by connexin-43 hemichannels.113
200388102010Limited forward trafficking of connexin 43 reduces cell-cell coupling in stressed human and mouse myocardium.100
155766502005Connexin 43 downregulation and dephosphorylation in nonischemic heart failure is associated with enhanced colocalized protein phosphatase type 2A.85
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
251244942014Integrating genetic, transcriptional, and functional analyses to identify 5 novel genes for atrial fibrillation.71

Citation

Dessen P

GJA1 (gap junction protein alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40714/gja1