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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
q21.2
Chromosome location (bp)
147756199 - 147773362
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
One 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....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P36382 [Direct mapping] Gap junction alpha-5 protein
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X5D2H9 [Target identity:100%; Query identity:100%] Gap junction protein
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Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) DeepTMHMM predicted membrane proteins
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GO:0001525[angiogenesis] GO:0003105[negative regulation of glomerular filtration] GO:0003151[outflow tract morphogenesis] GO:0003158[endothelium development] GO:0003161[cardiac conduction system development] GO:0003174[mitral valve development] GO:0003193[pulmonary valve formation] GO:0003281[ventricular septum development] GO:0003283[atrial septum development] GO:0005243[gap junction channel activity] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005921[gap junction] GO:0005922[connexin complex] GO:0006813[potassium ion transport] GO:0007154[cell communication] GO:0007267[cell-cell signaling] GO:0007507[heart development] GO:0010643[cell communication by chemical coupling] GO:0010644[cell communication by electrical coupling] GO:0010649[regulation of cell communication by electrical coupling] GO:0010652[positive regulation of cell communication by chemical coupling] GO:0014704[intercalated disc] GO:0016020[membrane] GO:0016264[gap junction assembly] GO:0042311[vasodilation] GO:0042995[cell projection] GO:0045776[negative regulation of blood pressure] GO:0045907[positive regulation of vasoconstriction] GO:0048844[artery morphogenesis] GO:0055077[gap junction hemi-channel activity] GO:0055085[transmembrane transport] GO:0055117[regulation of cardiac muscle contraction] GO:0060307[regulation of ventricular cardiac muscle cell membrane repolarization] GO:0060371[regulation of atrial cardiac muscle cell membrane depolarization] GO:0060373[regulation of ventricular cardiac muscle cell membrane depolarization] GO:0070161[anchoring junction] GO:0071253[connexin binding] GO:0086020[gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling] GO:0086021[SA node cell to atrial cardiac muscle cell communication by electrical coupling] GO:0086044[atrial cardiac muscle cell to AV node cell communication by electrical coupling] GO:0086053[AV node cell to bundle of His cell communication by electrical coupling] GO:0086054[bundle of His cell to Purkinje myocyte communication by electrical coupling] GO:0086055[Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling] GO:0086064[cell communication by electrical coupling involved in cardiac conduction] GO:0086075[gap junction channel activity involved in cardiac conduction electrical coupling] GO:0086076[gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling] GO:0086077[gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling] GO:0086078[gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling] GO:0086079[gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling] GO:0097718[disordered domain specific binding] GO:0098904[regulation of AV node cell action potential] GO:0098905[regulation of bundle of His cell action potential] GO:0098906[regulation of Purkinje myocyte action potential] GO:0098910[regulation of atrial cardiac muscle cell action potential] GO:1990029[vasomotion]
The Human Protein Atlas project is funded
