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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).
Cancer-related genes 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
6
Cytoband
q22.31
Chromosome location (bp)
121435595 - 121449727
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity)....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. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]...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.
P17302 [Direct mapping] Gap junction alpha-1 protein
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A0A654IBU3 [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 Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of the musculoskeletal system Congenital malformations of skin Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0000132[establishment of mitotic spindle orientation] GO:0000139[Golgi membrane] GO:0003161[cardiac conduction system development] GO:0005243[gap junction channel activity] GO:0005515[protein binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005921[gap junction] GO:0005922[connexin complex] GO:0005925[focal adhesion] GO:0007154[cell communication] GO:0007165[signal transduction] GO:0007267[cell-cell signaling] GO:0007283[spermatogenesis] GO:0007507[heart development] GO:0008013[beta-catenin binding] GO:0008104[protein localization] GO:0010628[positive regulation of gene expression] GO:0010644[cell communication by electrical coupling] GO:0014047[glutamate secretion] GO:0014704[intercalated disc] GO:0015075[ion transmembrane transporter activity] GO:0015562[efflux transmembrane transporter activity] GO:0015631[tubulin binding] GO:0016020[membrane] GO:0016264[gap junction assembly] GO:0016324[apical plasma membrane] GO:0022857[transmembrane transporter activity] GO:0030054[cell junction] GO:0030308[negative regulation of cell growth] GO:0030660[Golgi-associated vesicle membrane] GO:0032277[negative regulation of gonadotropin secretion] GO:0034220[ion transmembrane transport] GO:0034634[glutathione transmembrane transporter activity] GO:0034775[glutathione transmembrane transport] GO:0035633[maintenance of blood-brain barrier] GO:0042908[xenobiotic transport] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043231[intracellular membrane-bounded organelle] GO:0044291[cell-cell contact zone] GO:0045121[membrane raft] GO:0046849[bone remodeling] GO:0055077[gap junction hemi-channel activity] GO:0055085[transmembrane transport] GO:0060348[bone development] GO:0070160[tight junction] GO:0070161[anchoring junction] GO:0086014[atrial cardiac muscle cell action potential] GO:0086064[cell communication by electrical coupling involved in cardiac conduction] GO:0086075[gap junction channel activity involved in cardiac conduction electrical coupling] GO:0120162[positive regulation of cold-induced thermogenesis] GO:0140115[export across plasma membrane] GO:1901164[negative regulation of trophoblast cell migration] GO:1903763[gap junction channel activity involved in cell communication by electrical coupling] GO:1904646[cellular response to amyloid-beta] GO:1904707[positive regulation of vascular associated smooth muscle cell proliferation] GO:1905332[positive regulation of morphogenesis of an epithelium] GO:1905772[positive regulation of mesodermal cell differentiation] GO:2000648[positive regulation of stem cell proliferation]
P17302 [Direct mapping] Gap junction alpha-1 protein
Show all
A0A654IBU3 [Target identity:100%; Query identity:100%] Gap junction protein
Show all
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 Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of the musculoskeletal system Congenital malformations of skin Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000132[establishment of mitotic spindle orientation] GO:0000139[Golgi membrane] GO:0003161[cardiac conduction system development] GO:0005243[gap junction channel activity] GO:0005515[protein binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005921[gap junction] GO:0005922[connexin complex] GO:0005925[focal adhesion] GO:0007154[cell communication] GO:0007165[signal transduction] GO:0007267[cell-cell signaling] GO:0007283[spermatogenesis] GO:0007507[heart development] GO:0008013[beta-catenin binding] GO:0008104[protein localization] GO:0010628[positive regulation of gene expression] GO:0010644[cell communication by electrical coupling] GO:0014047[glutamate secretion] GO:0014704[intercalated disc] GO:0015075[ion transmembrane transporter activity] GO:0015562[efflux transmembrane transporter activity] GO:0015631[tubulin binding] GO:0016020[membrane] GO:0016264[gap junction assembly] GO:0016324[apical plasma membrane] GO:0022857[transmembrane transporter activity] GO:0030054[cell junction] GO:0030308[negative regulation of cell growth] GO:0030660[Golgi-associated vesicle membrane] GO:0032277[negative regulation of gonadotropin secretion] GO:0034220[ion transmembrane transport] GO:0034634[glutathione transmembrane transporter activity] GO:0034775[glutathione transmembrane transport] GO:0035633[maintenance of blood-brain barrier] GO:0042908[xenobiotic transport] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043231[intracellular membrane-bounded organelle] GO:0044291[cell-cell contact zone] GO:0045121[membrane raft] GO:0046849[bone remodeling] GO:0055077[gap junction hemi-channel activity] GO:0055085[transmembrane transport] GO:0060348[bone development] GO:0070160[tight junction] GO:0070161[anchoring junction] GO:0086014[atrial cardiac muscle cell action potential] GO:0086064[cell communication by electrical coupling involved in cardiac conduction] GO:0086075[gap junction channel activity involved in cardiac conduction electrical coupling] GO:0120162[positive regulation of cold-induced thermogenesis] GO:0140115[export across plasma membrane] GO:1901164[negative regulation of trophoblast cell migration] GO:1903763[gap junction channel activity involved in cell communication by electrical coupling] GO:1904646[cellular response to amyloid-beta] GO:1904707[positive regulation of vascular associated smooth muscle cell proliferation] GO:1905332[positive regulation of morphogenesis of an epithelium] GO:1905772[positive regulation of mesodermal cell differentiation] GO:2000648[positive regulation of stem cell proliferation]
P17302 [Direct mapping] Gap junction alpha-1 protein
Show all
A0A654IBU3 [Target identity:100%; Query identity:100%] Gap junction protein
Show all
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 Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of the musculoskeletal system Congenital malformations of skin Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000132[establishment of mitotic spindle orientation] GO:0000139[Golgi membrane] GO:0003161[cardiac conduction system development] GO:0005243[gap junction channel activity] GO:0005515[protein binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005921[gap junction] GO:0005922[connexin complex] GO:0005925[focal adhesion] GO:0007154[cell communication] GO:0007165[signal transduction] GO:0007267[cell-cell signaling] GO:0007283[spermatogenesis] GO:0007507[heart development] GO:0008013[beta-catenin binding] GO:0008104[protein localization] GO:0010628[positive regulation of gene expression] GO:0010644[cell communication by electrical coupling] GO:0014047[glutamate secretion] GO:0014704[intercalated disc] GO:0015075[ion transmembrane transporter activity] GO:0015562[efflux transmembrane transporter activity] GO:0015631[tubulin binding] GO:0016020[membrane] GO:0016264[gap junction assembly] GO:0016324[apical plasma membrane] GO:0022857[transmembrane transporter activity] GO:0030054[cell junction] GO:0030308[negative regulation of cell growth] GO:0030660[Golgi-associated vesicle membrane] GO:0032277[negative regulation of gonadotropin secretion] GO:0034220[ion transmembrane transport] GO:0034634[glutathione transmembrane transporter activity] GO:0034775[glutathione transmembrane transport] GO:0035633[maintenance of blood-brain barrier] GO:0042908[xenobiotic transport] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043231[intracellular membrane-bounded organelle] GO:0044291[cell-cell contact zone] GO:0045121[membrane raft] GO:0046849[bone remodeling] GO:0055077[gap junction hemi-channel activity] GO:0055085[transmembrane transport] GO:0060348[bone development] GO:0070160[tight junction] GO:0070161[anchoring junction] GO:0086014[atrial cardiac muscle cell action potential] GO:0086064[cell communication by electrical coupling involved in cardiac conduction] GO:0086075[gap junction channel activity involved in cardiac conduction electrical coupling] GO:0120162[positive regulation of cold-induced thermogenesis] GO:0140115[export across plasma membrane] GO:1901164[negative regulation of trophoblast cell migration] GO:1903763[gap junction channel activity involved in cell communication by electrical coupling] GO:1904646[cellular response to amyloid-beta] GO:1904707[positive regulation of vascular associated smooth muscle cell proliferation] GO:1905332[positive regulation of morphogenesis of an epithelium] GO:1905772[positive regulation of mesodermal cell differentiation] GO:2000648[positive regulation of stem cell proliferation]
P17302 [Direct mapping] Gap junction alpha-1 protein
Show all
A0A654IBU3 [Target identity:100%; Query identity:100%] Gap junction protein
Show all
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 Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of the musculoskeletal system Congenital malformations of skin Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000132[establishment of mitotic spindle orientation] GO:0000139[Golgi membrane] GO:0003161[cardiac conduction system development] GO:0005243[gap junction channel activity] GO:0005515[protein binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005921[gap junction] GO:0005922[connexin complex] GO:0005925[focal adhesion] GO:0007154[cell communication] GO:0007165[signal transduction] GO:0007267[cell-cell signaling] GO:0007283[spermatogenesis] GO:0007507[heart development] GO:0008013[beta-catenin binding] GO:0008104[protein localization] GO:0010628[positive regulation of gene expression] GO:0010644[cell communication by electrical coupling] GO:0014047[glutamate secretion] GO:0014704[intercalated disc] GO:0015075[ion transmembrane transporter activity] GO:0015562[efflux transmembrane transporter activity] GO:0015631[tubulin binding] GO:0016020[membrane] GO:0016264[gap junction assembly] GO:0016324[apical plasma membrane] GO:0022857[transmembrane transporter activity] GO:0030054[cell junction] GO:0030308[negative regulation of cell growth] GO:0030660[Golgi-associated vesicle membrane] GO:0032277[negative regulation of gonadotropin secretion] GO:0034220[ion transmembrane transport] GO:0034634[glutathione transmembrane transporter activity] GO:0034775[glutathione transmembrane transport] GO:0035633[maintenance of blood-brain barrier] GO:0042908[xenobiotic transport] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043231[intracellular membrane-bounded organelle] GO:0044291[cell-cell contact zone] GO:0045121[membrane raft] GO:0046849[bone remodeling] GO:0055077[gap junction hemi-channel activity] GO:0055085[transmembrane transport] GO:0060348[bone development] GO:0070160[tight junction] GO:0070161[anchoring junction] GO:0086014[atrial cardiac muscle cell action potential] GO:0086064[cell communication by electrical coupling involved in cardiac conduction] GO:0086075[gap junction channel activity involved in cardiac conduction electrical coupling] GO:0120162[positive regulation of cold-induced thermogenesis] GO:0140115[export across plasma membrane] GO:1901164[negative regulation of trophoblast cell migration] GO:1903763[gap junction channel activity involved in cell communication by electrical coupling] GO:1904646[cellular response to amyloid-beta] GO:1904707[positive regulation of vascular associated smooth muscle cell proliferation] GO:1905332[positive regulation of morphogenesis of an epithelium] GO:1905772[positive regulation of mesodermal cell differentiation] GO:2000648[positive regulation of stem cell proliferation]