GJA1 - Gap junction alpha-1 protein - human protein (Function)
 
Home Recent activites arrow-down favorite My favorites arrow-down favorite My labels arrow-down Downloads
Back to ...  
Publication View
Protein
Gene
References

 
GJA1 »  Gap junction alpha-1 protein
 
Protein also known as:  Gap junction 43 kDa heart protein.
Gene name:  GJA1
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 351 1
GENE REF ISO

Function

 show evidences
Overview 
Gap junction protein that acts as a regulator of bladder capacity. A 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. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity).  
1
  • UniProtKB
GO molecular function 
Beta-tubulin bindingdefinition[GO:0048487] silver  
1
  • Ortholog Compara
Connexin bindingdefinition[GO:0071253] silver  
1
  • Ortholog Compara
Gap junction channel activitydefinition[GO:0005243]  
2
  • BHF-UCL
Ion transmembrane transporter activitydefinition[GO:0015075]  
1
  • PINC
PDZ domain bindingdefinition[GO:0030165] silver  
1
  • Ortholog Compara
Protein bindingdefinition[GO:0005515]  
4
  • IntAct
  • UniProtKB
Receptor bindingdefinition[GO:0005102] silver  
1
  • Ortholog Compara
Scaffold protein bindingdefinition[GO:0097110] silver  
1
  • Ortholog Compara
SH3 domain bindingdefinition[GO:0017124] silver  
1
  • Ortholog Compara
Signal transducer activitydefinition[GO:0004871]  
1
  • UniProtKB
GO biological process 
Adult heart developmentdefinition[GO:0007512] silver  
1
  • Ortholog Compara
Apoptotic processdefinition[GO:0006915] silver  
1
  • Ortholog Compara
ATP transportdefinition[GO:0015867] silver  
1
  • Ortholog Compara
Atrial cardiac muscle cell action potentialdefinition[GO:0086014]  
1
  • BHF-UCL
Atrial ventricular junction remodelingdefinition[GO:0003294] silver  
1
  • Ortholog Compara
Blood vessel morphogenesisdefinition[GO:0048514] silver  
1
  • Ortholog Compara
Cell communication by chemical couplingdefinition[GO:0010643] silver  
1
  • Ortholog Compara
Cell communication by electrical couplingdefinition[GO:0010644]  
2
  • BHF-UCL
Cell-cell signalingdefinition[GO:0007267]  
1
  • PINC
Cellular response to mechanical stimulusdefinition[GO:0071260] silver  
1
  • Ortholog Compara
Chronic inflammatory responsedefinition[GO:0002544] silver  
1
  • Ortholog Compara
Embryonic digit morphogenesisdefinition[GO:0042733] silver  
1
  • Ortholog Compara
Endothelium developmentdefinition[GO:0003158] silver  
1
  • Ortholog Compara
Epithelial cell maturationdefinition[GO:0002070] silver  
1
  • Ortholog Compara
Gap junction assemblydefinition[GO:0016264]  
1
  • UniProtKB
Heart developmentdefinition[GO:0007507]  
1
  • PINC
Heart loopingdefinition[GO:0001947] silver  
1
  • Ortholog Compara
In utero embryonic developmentdefinition[GO:0001701] silver  
1
  • Ortholog Compara
Ion transmembrane transportdefinition[GO:0034220]  
1
  • GOC
Lens development in camera-type eyedefinition[GO:0002088] silver  
1
  • Ortholog Compara
Milk ejectiondefinition[GO:0060156] silver  
1
  • Ortholog Compara
Muscle contractiondefinition[GO:0006936]  
1
  • PINC
Negative regulation of cardiac muscle cell proliferationdefinition[GO:0060044] silver  
1
  • Ortholog Compara
Negative regulation of DNA biosynthetic processdefinition[GO:2000279] silver  
1
  • Ortholog Compara
Negative regulation of endothelial cell proliferationdefinition[GO:0001937] silver  
1
  • Ortholog Compara
Negative regulation of gene expressiondefinition[GO:0010629] silver  
1
  • Ortholog Compara
Negative regulation of wound healingdefinition[GO:0061045] silver  
1
  • Ortholog Compara
Neuron migrationdefinition[GO:0001764] silver  
1
  • Ortholog Compara
Neuron projection morphogenesisdefinition[GO:0048812] silver  
1
  • Ortholog Compara
Osteoblast differentiationdefinition[GO:0001649] silver  
1
  • Ortholog Compara
Positive regulation of behavioral fear responsedefinition[GO:2000987] silver  
1
  • Ortholog Compara
Positive regulation of cell communication by chemical couplingdefinition[GO:0010652] silver  
1
  • Ortholog Compara
Positive regulation of cytosolic calcium ion concentrationdefinition[GO:0007204] silver  
1
  • Ortholog Compara
Positive regulation of gene expressiondefinition[GO:0010628] silver  
1
  • Ortholog Compara
Positive regulation of glomerular filtrationdefinition[GO:0003104] silver  
1
  • Ortholog Compara
Positive regulation of I-kappaB kinase/NF-kappaB signalingdefinition[GO:0043123]  
1
  • UniProtKB
Positive regulation of insulin secretiondefinition[GO:0032024] silver  
1
  • Ortholog Compara
Positive regulation of protein catabolic processdefinition[GO:0045732] silver  
1
  • Ortholog Compara
Positive regulation of striated muscle tissue developmentdefinition[GO:0045844] silver  
1
  • Ortholog Compara
Positive regulation of vasoconstrictiondefinition[GO:0045907] silver  
1
  • Ortholog Compara
Positive regulation of vasodilationdefinition[GO:0045909] silver  
1
  • Ortholog Compara
Protein oligomerizationdefinition[GO:0051259] silver  
1
  • Ortholog Compara
Regulation of atrial cardiac muscle cell membrane depolarizationdefinition[GO:0060371] silver  
1
  • Ortholog Compara
Regulation of bone mineralizationdefinition[GO:0030500] silver  
1
  • Ortholog Compara
Regulation of bone remodelingdefinition[GO:0046850] silver  
1
  • Ortholog Compara
Regulation of calcium ion transportdefinition[GO:0051924] silver  
1
  • Ortholog Compara
Regulation of tight junction assemblydefinition[GO:2000810] silver  
1
  • Ortholog Compara
Regulation of ventricular cardiac muscle cell membrane depolarizationdefinition[GO:0060373] silver  
1
  • Ortholog Compara
Regulation of ventricular cardiac muscle cell membrane repolarizationdefinition[GO:0060307] silver  
1
  • Ortholog Compara
Response to fluid shear stressdefinition[GO:0034405] silver  
1
  • Ortholog Compara
Response to glucosedefinition[GO:0009749] silver  
1
  • Ortholog Compara
Response to peptide hormonedefinition[GO:0043434] silver  
1
  • Ortholog Compara
Response to pHdefinition[GO:0009268] silver  
1
  • Ortholog Compara
Signal transductiondefinition[GO:0007165]  
1
  • GOC
Skeletal muscle tissue regenerationdefinition[GO:0043403] silver  
1
  • Ortholog Compara
Transportdefinition[GO:0006810]  
1
  • PINC
Vascular transportdefinition[GO:0010232] silver  
1
  • Ortholog Compara
Pathways 
According to KEGG, this protein belongs to the following pathways:
Arrhythmogenic right ventricular cardiomyopathy (ARVC)  hsa05412+2697  
Gap junction  hsa04540+2697  
According to Reactome, this protein belongs to the following pathways:
c-src mediated regulation of Cx43 function and closure of gap junctions  REACT_11043  
Formation of annular gap junctions  REACT_11049  
Gap junction assembly  REACT_9509  
Gap junction degradation  REACT_11035  
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane  REACT_11039  
Oligomerization of connexins into connexons  REACT_9398  
Transport of connexins along the secretory pathway  REACT_9392  
Caution 
PubMed:7715640 reported a mutation Pro-364 linked to congenital heart diseases. PubMed:8873667 later shown that it is an artifact.  
1
  • UniProtKB
PubMed:11741837 reported 2 mutations (Phe-11 and Ala-24) linked to non-syndromic autosomal recessive deafness (DFNBG). These mutations have subsequently been shown (PubMed12457340) to involve the pseudogene of connexin-43 located on chromosome 5.  
2
  • UniProtKB
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Other
GeneWiki: GJA1
GenomeRNAi: 2697
PRO: PR:P17302
Chemistry
GuidetoPHARMACOLOGY: 728