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
1 311 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).  
  • CuratedUniProtKB
GO molecular function 
Connexin bindingdefinition[GO:0071253] silver  
  • IEAOrtholog Compara
Gap junction channel activitydefinition[GO:0005243]  
2
  • IDABHF-UCL
Ion transmembrane transporter activitydefinition[GO:0015075]  
1
  • TASPINC
PDZ domain bindingdefinition[GO:0030165] silver  
  • IEAOrtholog Compara
Protein bindingdefinition[GO:0005515]  
4
  • IPIIntAct
  • IPIUniProtKB
SH3 domain bindingdefinition[GO:0017124] silver  
  • IEAOrtholog Compara
Signal transducer activitydefinition[GO:0004871]  
1
  • IMPUniProtKB
GO biological process 
Apoptotic processdefinition[GO:0006915] silver  
  • IEAOrtholog Compara
ATP transportdefinition[GO:0015867] silver  
  • IEAOrtholog Compara
Atrial cardiac muscle cell action potentialdefinition[GO:0086014]  
1
  • TASBHF-UCL
Cell communication by electrical couplingdefinition[GO:0010644]  
2
  • IDABHF-UCL
Cell-cell signalingdefinition[GO:0007267]  
1
  • TASPINC
Cellular response to mechanical stimulusdefinition[GO:0071260] silver  
  • IEAOrtholog Compara
Chronic inflammatory responsedefinition[GO:0002544] silver  
  • IEAOrtholog Compara
Endothelium developmentdefinition[GO:0003158] silver  
  • IEAOrtholog Compara
Gap junction assemblydefinition[GO:0016264]  
1
  • TASUniProtKB
Heart developmentdefinition[GO:0007507] silver  
  • IEAOrtholog Compara
Ion transmembrane transportdefinition[GO:0034220]  
1
  • TASGOC
Muscle contractiondefinition[GO:0006936]  
1
  • TASPINC
Negative regulation of cardiac muscle cell proliferationdefinition[GO:0060044] silver  
  • IEAOrtholog Compara
Neuron projection morphogenesisdefinition[GO:0048812] silver  
  • IEAOrtholog Compara
Positive regulation of behavioral fear responsedefinition[GO:2000987] silver  
  • IEAOrtholog Compara
Positive regulation of cell communication by chemical couplingdefinition[GO:0010652] silver  
  • IEAOrtholog Compara
Positive regulation of cytosolic calcium ion concentrationdefinition[GO:0007204] silver  
  • IEAOrtholog Compara
Positive regulation of glomerular filtrationdefinition[GO:0003104] silver  
  • IEAOrtholog Compara
Positive regulation of I-kappaB kinase/NF-kappaB signalingdefinition[GO:0043123]  
1
  • IMPUniProtKB
Positive regulation of protein catabolic processdefinition[GO:0045732] silver  
  • IEAOrtholog Compara
Positive regulation of vasoconstrictiondefinition[GO:0045907] silver  
  • IEAOrtholog Compara
Positive regulation of vasodilationdefinition[GO:0045909] silver  
  • IEAOrtholog Compara
Protein oligomerizationdefinition[GO:0051259] silver  
  • IEAOrtholog Compara
Regulation of calcium ion transportdefinition[GO:0051924] silver  
  • IEAOrtholog Compara
Regulation of tight junction assemblydefinition[GO:2000810] silver  
  • IEAOrtholog Compara
Response to fluid shear stressdefinition[GO:0034405] silver  
  • IEAOrtholog Compara
Response to peptide hormonedefinition[GO:0043434] silver  
  • IEAOrtholog Compara
Response to pHdefinition[GO:0009268] silver  
  • IEAOrtholog Compara
Signal transductiondefinition[GO:0007165]  
1
  • IMPGOC
Transmembrane transportdefinition[GO:0055085]  
2
  • IDAGOC
Transportdefinition[GO:0006810]  
1
  • TASPINC
Vascular transportdefinition[GO:0010232] silver  
  • IEAOrtholog 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 pathway:
Membrane Trafficking  REACT_11123  
Caution 
PubMed7715640 reported a mutation Pro-364 linked to congenital heart diseases. PubMed8873667 later shown that it is an artifact.  
2
  • CuratedUniProtKB
PubMed11741837 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
  • CuratedUniProtKB
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

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