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Entry version 232 (05 Jun 2019)
Sequence version 2 (23 Jan 2007)
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Protein

Gap junction alpha-1 protein

Gene

GJA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity

Caution

PubMed:7715640 reported a mutation Pro-364 linked to congenital heart diseases. PubMed:8873667 later shown that it is an artifact.Curated
PubMed:11741837 reported 2 mutations (Phe-11 and Ala-24) linked to non-syndromic autosomal recessive deafness (DFNBG). These mutations have subsequently been shown (PubMed:12457340) to involve the pseudogene of connexin-43 located on chromosome 5.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-190704 Oligomerization of connexins into connexons
R-HSA-190827 Transport of connexins along the secretory pathway
R-HSA-190840 Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
R-HSA-190861 Gap junction assembly
R-HSA-190873 Gap junction degradation
R-HSA-191650 Regulation of gap junction activity
R-HSA-196025 Formation of annular gap junctions

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P17302

SIGNOR Signaling Network Open Resource

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SIGNORi
P17302

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Gap junction alpha-1 protein
Alternative name(s):
Connexin-43
Short name:
Cx43
Gap junction 43 kDa heart protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GJA1
Synonyms:GJAL
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:4274 GJA1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
121014 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P17302

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 13CytoplasmicSequence analysisAdd BLAST13
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei14 – 36HelicalSequence analysisAdd BLAST23
Topological domaini37 – 76ExtracellularSequence analysisAdd BLAST40
Transmembranei77 – 99HelicalSequence analysisAdd BLAST23
Topological domaini100 – 154CytoplasmicSequence analysisAdd BLAST55
Transmembranei155 – 177HelicalSequence analysisAdd BLAST23
Topological domaini178 – 208ExtracellularSequence analysisAdd BLAST31
Transmembranei209 – 231HelicalSequence analysisAdd BLAST23
Topological domaini232 – 382CytoplasmicSequence analysisAdd BLAST151

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell junction, Cell membrane, Endoplasmic reticulum, Gap junction, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Oculodentodigital dysplasia (ODDD)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0589902G → V in ODDD. 1 Publication1
Natural variantiVAR_0589917L → V in ODDD. 1 Publication1
Natural variantiVAR_07823811L → I in ODDD. 1 Publication1
Natural variantiVAR_05899211L → P in ODDD. 2 PublicationsCorresponds to variant dbSNP:rs121912969EnsemblClinVar.1
Natural variantiVAR_01574717Y → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893961EnsemblClinVar.1
Natural variantiVAR_01574818S → P in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893962EnsemblClinVar.1
Natural variantiVAR_01574921G → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893963EnsemblClinVar.1
Natural variantiVAR_01575022G → E in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893964EnsemblClinVar.1
Natural variantiVAR_01575123K → T in ODDD. 1 Publication1
Natural variantiVAR_03835627S → P in ODDD. 1 Publication1
Natural variantiVAR_03835731I → M in ODDD. 1 Publication1
Natural variantiVAR_01575240A → V in ODDD. 4 Publications1
Natural variantiVAR_07043941 – 44Missing in ODDD. 1 Publication4
Natural variantiVAR_07100947D → H in ODDD. 1 Publication1
Natural variantiVAR_01575349Q → K in ODDD. 1 Publication1
Natural variantiVAR_05899449Q → P in ODDD. 1 Publication1
Natural variantiVAR_05899549Q → QQ in ODDD. 1 Publication1
Natural variantiVAR_01575452F → FF in ODDD. 1 Publication1
Natural variantiVAR_05899659P → H in ODDD. 1 Publication1
Natural variantiVAR_03835869S → Y in ODDD. 1 Publication1
Natural variantiVAR_01575576R → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs267606845EnsemblClinVar.1
Natural variantiVAR_07101086S → Y in ODDD; de novo mutation found in a sporadic case. 1 Publication1
Natural variantiVAR_01575690L → V in ODDD. 1 Publication1
Natural variantiVAR_05899895H → R in ODDD. 1 Publication1
Natural variantiVAR_05899996V → A in ODDD. 1 Publication1
Natural variantiVAR_05900096V → E in ODDD. 1 Publication1
Natural variantiVAR_05900196V → M in ODDD. 1 PublicationCorresponds to variant dbSNP:rs28931601EnsemblClinVar.1
Natural variantiVAR_01575798Y → C in ODDD. 1 Publication1
Natural variantiVAR_015758102K → N in ODDD. 1 Publication1
Natural variantiVAR_059002106L → P in ODDD. 1 Publication1
Natural variantiVAR_071011106L → R in ODDD. 1 Publication1
Natural variantiVAR_059003110E → D in ODDD. 1 Publication1
Natural variantiVAR_038359113L → P in ODDD. 2 Publications1
Natural variantiVAR_015759130I → T in ODDD. 1 Publication1
Natural variantiVAR_015760134K → E in ODDD. 1 Publication1
Natural variantiVAR_038360134K → N in ODDD. 1 Publication1
Natural variantiVAR_015761138G → R in ODDD. 1 Publication1
Natural variantiVAR_059004147M → T in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1057518872EnsemblClinVar.1
Natural variantiVAR_014095148R → Q in ODDD. 1 PublicationCorresponds to variant dbSNP:rs962041031EnsemblClinVar.1
Natural variantiVAR_059005154T → A in ODDD. 2 Publications1
Natural variantiVAR_059006154T → N in ODDD. 1 Publication1
Natural variantiVAR_059007169Missing in ODDD. 1 Publication1
Natural variantiVAR_059008194H → P in ODDD; atypical form of ODDD characterized by the predominance of the ocular involvement and by the absence of hand and/or foot syndactyly and absence of any neurologic signs. 1 PublicationCorresponds to variant dbSNP:rs104893966EnsemblClinVar.1
Natural variantiVAR_059009201S → F in ODDD. 1 Publication1
Natural variantiVAR_015762202R → H in ODDD. 3 PublicationsCorresponds to variant dbSNP:rs750294638EnsemblClinVar.1
Natural variantiVAR_070440206K → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs397518464EnsemblClinVar.1
Natural variantiVAR_015763216V → L in ODDD. 1 Publication1
Natural variantiVAR_059010220S → Y in ODDD. 1 Publication1
Oculodentodigital dysplasia, autosomal recessive (ODDD-AR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances.
Related information in OMIM
Syndactyly 3 (SDTY3)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038361143G → S in SDTY3. 1 PublicationCorresponds to variant dbSNP:rs28931600EnsemblClinVar.1
Hypoplastic left heart syndrome 1 (HLHS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032924362R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Q-376 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs2227885EnsemblClinVar.1
Natural variantiVAR_032925376R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Q-362 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs104893965EnsemblClinVar.1
Hallermann-Streiff syndrome (HSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05899776R → H in HSS; overlapping features with oculodentodigital dysplasia. 1 PublicationCorresponds to variant dbSNP:rs267606844EnsemblClinVar.1
Atrioventricular septal defect 3 (AVSD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032924362R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Q-376 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs2227885EnsemblClinVar.1
Natural variantiVAR_032925376R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Q-362 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs104893965EnsemblClinVar.1
Craniometaphyseal dysplasia, autosomal recessive (CMDR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070441239R → Q in CMDR. 1 PublicationCorresponds to variant dbSNP:rs764670582EnsemblClinVar.1
Erythrokeratodermia variabilis et progressiva 3 (EKVP3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07575544A → V in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs794729675EnsemblClinVar.1
Natural variantiVAR_075756227E → D in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs875989815EnsemblClinVar.1
Palmoplantar keratoderma and congenital alopecia 1 (PPKCA1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0757548G → V in PPKCA1; can form functional gap junctions; results in enhanced hemichannel activity that causes increased cell death. 1 PublicationCorresponds to variant dbSNP:rs864309644EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation, Hypotrichosis, Palmoplantar keratoderma

Organism-specific databases

DisGeNET

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DisGeNETi
2697

MalaCards human disease database

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MalaCardsi
GJA1
MIMi104100 phenotype
164200 phenotype
186100 phenotype
218400 phenotype
234100 phenotype
241550 phenotype
257850 phenotype
600309 phenotype
617525 phenotype

Open Targets

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OpenTargetsi
ENSG00000152661

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
1522 Craniometaphyseal dysplasia
317 Erythrokeratodermia variabilis
2248 Hypoplastic left heart syndrome
2710 Oculodentodigital dysplasia
93404 Syndactyly type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28685

Chemistry databases

Drug and drug target database

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DrugBanki
DB01136 Carvedilol

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GJA1

Domain mapping of disease mutations (DMDM)

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DMDMi
117706

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000578011 – 382Gap junction alpha-1 proteinAdd BLAST382

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei5PhosphoserineBy similarity1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi54 ↔ 1921 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki144Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Disulfide bondi187 ↔ 1981 Publication
Cross-linki237Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residuei247PhosphotyrosineBy similarity1
Modified residuei255PhosphoserineCombined sources1 Publication1
Modified residuei262Phosphoserine2 Publications1
Modified residuei271S-nitrosocysteineBy similarity1
Modified residuei275PhosphothreonineBy similarity1
Modified residuei306PhosphoserineBy similarity1
Modified residuei314PhosphoserineCombined sources1
Modified residuei325Phosphoserine; by CK11 Publication1
Modified residuei326PhosphothreonineBy similarity1
Modified residuei328Phosphoserine; by CK11 Publication1
Modified residuei330Phosphoserine; by CK11 Publication1
Modified residuei344PhosphoserineCombined sources1
Modified residuei365PhosphoserineBy similarity1
Modified residuei368Phosphoserine; by PKC/PRKCG and PKC/PRKCDBy similarity1
Modified residuei369PhosphoserineBy similarity1
Modified residuei373PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated at Ser-368 by PRKCG; phosphorylation induces disassembly of gap junction plaques and inhibition of gap junction activity (By similarity). Phosphorylation at Ser-325, Ser-328 and Ser-330 by CK1 modulates gap junction assembly. Phosphorylation at Ser-368 by PRKCD triggers its internalization into small vesicles leading to proteasome-mediated degradation (By similarity).By similarity3 Publications
Sumoylated with SUMO1, SUMO2 and SUMO3, which may regulate the level of functional Cx43 gap junctions at the plasma membrane. May be desumoylated by SENP1 or SENP2.1 Publication
S-nitrosylation at Cys-271 is enriched at the muscle endothelial gap junction in arteries, it augments channel permeability and may regulate of smooth muscle cell to endothelial cell communication.

Keywords - PTMi

Disulfide bond, Isopeptide bond, Phosphoprotein, S-nitrosylation, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P17302

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P17302

MaxQB - The MaxQuant DataBase

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MaxQBi
P17302

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P17302

PeptideAtlas

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PeptideAtlasi
P17302

PRoteomics IDEntifications database

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PRIDEi
P17302

ProteomicsDB human proteome resource

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ProteomicsDBi
53467

Consortium for Top Down Proteomics

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TopDownProteomicsi
P17302

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P17302

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P17302

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the heart and fetal cochlea.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000152661 Expressed in 236 organ(s), highest expression level in pigmented layer of retina

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P17302 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB010753
HPA035097
HPA047551
HPA069245

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

A connexon is composed of a hexamer of connexins. Interacts (via C-terminus) with TJP1 (By similarity). Interacts (via C-terminus) with SRC (via SH3 domain) (By similarity). Interacts (not ubiquitinated) with UBQLN4 (via UBA domain) (By similarity). Interacts with SGSM3 and CNST (By similarity). Interacts with RIC1/CIP150. Interacts with CSNK1D. Interacts with NOV (PubMed:15181016, PubMed:15213231). Interacts with TMEM65 (By similarity).By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108964, 68 interactors

Protein interaction database and analysis system

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IntActi
P17302, 25 interactors

Molecular INTeraction database

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MINTi
P17302

STRING: functional protein association networks

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STRINGi
9606.ENSP00000282561

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1382
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P17302

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni244 – 382Interaction with NOVBy similarityAdd BLAST139
Regioni264 – 382Interaction with UBQLN4By similarityAdd BLAST119

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IF97 Eukaryota
ENOG4110JTW LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00960000186643

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231127

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P17302

KEGG Orthology (KO)

More...
KOi
K07372

Identification of Orthologs from Complete Genome Data

More...
OMAi
GANVDMH

Database of Orthologous Groups

More...
OrthoDBi
519426at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P17302

TreeFam database of animal gene trees

More...
TreeFami
TF329606

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1440.80, 1 hit
1.20.5.1130, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR035091 Alpha_helix_dom_sf
IPR000500 Connexin
IPR002261 Connexin43
IPR013124 Connexin43_C
IPR034634 Connexin_C
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf

The PANTHER Classification System

More...
PANTHERi
PTHR11984 PTHR11984, 1 hit
PTHR11984:SF33 PTHR11984:SF33, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00029 Connexin, 1 hit
PF03508 Connexin43, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00206 CONNEXIN
PR01132 CONNEXINA1

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF118220 SSF118220, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

P17302-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGDWSALGKL LDKVQAYSTA GGKVWLSVLF IFRILLLGTA VESAWGDEQS
60 70 80 90 100
AFRCNTQQPG CENVCYDKSF PISHVRFWVL QIIFVSVPTL LYLAHVFYVM
110 120 130 140 150
RKEEKLNKKE EELKVAQTDG VNVDMHLKQI EIKKFKYGIE EHGKVKMRGG
160 170 180 190 200
LLRTYIISIL FKSIFEVAFL LIQWYIYGFS LSAVYTCKRD PCPHQVDCFL
210 220 230 240 250
SRPTEKTIFI IFMLVVSLVS LALNIIELFY VFFKGVKDRV KGKSDPYHAT
260 270 280 290 300
SGALSPAKDC GSQKYAYFNG CSSPTAPLSP MSPPGYKLVT GDRNNSSCRN
310 320 330 340 350
YNKQASEQNW ANYSAEQNRM GQAGSTISNS HAQPFDFPDD NQNSKKLAAG
360 370 380
HELQPLAIVD QRPSSRASSR ASSRPRPDDL EI
Length:382
Mass (Da):43,008
Last modified:January 23, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7DDDAD8040284176
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0589902G → V in ODDD. 1 Publication1
Natural variantiVAR_0589917L → V in ODDD. 1 Publication1
Natural variantiVAR_0757548G → V in PPKCA1; can form functional gap junctions; results in enhanced hemichannel activity that causes increased cell death. 1 PublicationCorresponds to variant dbSNP:rs864309644EnsemblClinVar.1
Natural variantiVAR_07823811L → I in ODDD. 1 Publication1
Natural variantiVAR_05899211L → P in ODDD. 2 PublicationsCorresponds to variant dbSNP:rs121912969EnsemblClinVar.1
Natural variantiVAR_01574717Y → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893961EnsemblClinVar.1
Natural variantiVAR_01574818S → P in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893962EnsemblClinVar.1
Natural variantiVAR_01574921G → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893963EnsemblClinVar.1
Natural variantiVAR_01575022G → E in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893964EnsemblClinVar.1
Natural variantiVAR_01575123K → T in ODDD. 1 Publication1
Natural variantiVAR_03835627S → P in ODDD. 1 Publication1
Natural variantiVAR_03835731I → M in ODDD. 1 Publication1
Natural variantiVAR_01575240A → V in ODDD. 4 Publications1
Natural variantiVAR_07043941 – 44Missing in ODDD. 1 Publication4
Natural variantiVAR_05899341V → L Found in a patient with hidrotic ectodermal dysplasia, abortive features of oculodentodigital dysplasia and extensive hyperkeratosis of the skin; unknown pathological significance; the patient also carries GJB2 variant H-127. 1 Publication1
Natural variantiVAR_07575544A → V in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs794729675EnsemblClinVar.1
Natural variantiVAR_07100947D → H in ODDD. 1 Publication1
Natural variantiVAR_01575349Q → K in ODDD. 1 Publication1
Natural variantiVAR_05899449Q → P in ODDD. 1 Publication1
Natural variantiVAR_05899549Q → QQ in ODDD. 1 Publication1
Natural variantiVAR_01575452F → FF in ODDD. 1 Publication1
Natural variantiVAR_05899659P → H in ODDD. 1 Publication1
Natural variantiVAR_03835869S → Y in ODDD. 1 Publication1
Natural variantiVAR_05899776R → H in HSS; overlapping features with oculodentodigital dysplasia. 1 PublicationCorresponds to variant dbSNP:rs267606844EnsemblClinVar.1
Natural variantiVAR_01575576R → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs267606845EnsemblClinVar.1
Natural variantiVAR_07101086S → Y in ODDD; de novo mutation found in a sporadic case. 1 Publication1
Natural variantiVAR_01575690L → V in ODDD. 1 Publication1
Natural variantiVAR_05899895H → R in ODDD. 1 Publication1
Natural variantiVAR_05899996V → A in ODDD. 1 Publication1
Natural variantiVAR_05900096V → E in ODDD. 1 Publication1
Natural variantiVAR_05900196V → M in ODDD. 1 PublicationCorresponds to variant dbSNP:rs28931601EnsemblClinVar.1
Natural variantiVAR_01575798Y → C in ODDD. 1 Publication1
Natural variantiVAR_015758102K → N in ODDD. 1 Publication1
Natural variantiVAR_059002106L → P in ODDD. 1 Publication1
Natural variantiVAR_071011106L → R in ODDD. 1 Publication1
Natural variantiVAR_059003110E → D in ODDD. 1 Publication1
Natural variantiVAR_038359113L → P in ODDD. 2 Publications1
Natural variantiVAR_015759130I → T in ODDD. 1 Publication1
Natural variantiVAR_015760134K → E in ODDD. 1 Publication1
Natural variantiVAR_038360134K → N in ODDD. 1 Publication1
Natural variantiVAR_015761138G → R in ODDD. 1 Publication1
Natural variantiVAR_038361143G → S in SDTY3. 1 PublicationCorresponds to variant dbSNP:rs28931600EnsemblClinVar.1
Natural variantiVAR_059004147M → T in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1057518872EnsemblClinVar.1
Natural variantiVAR_014095148R → Q in ODDD. 1 PublicationCorresponds to variant dbSNP:rs962041031EnsemblClinVar.1
Natural variantiVAR_059005154T → A in ODDD. 2 Publications1
Natural variantiVAR_059006154T → N in ODDD. 1 Publication1
Natural variantiVAR_014096168A → T. Corresponds to variant dbSNP:rs2228961Ensembl.1
Natural variantiVAR_059007169Missing in ODDD. 1 Publication1
Natural variantiVAR_059008194H → P in ODDD; atypical form of ODDD characterized by the predominance of the ocular involvement and by the absence of hand and/or foot syndactyly and absence of any neurologic signs. 1 PublicationCorresponds to variant dbSNP:rs104893966EnsemblClinVar.1
Natural variantiVAR_059009201S → F in ODDD. 1 Publication1
Natural variantiVAR_015762202R → H in ODDD. 3 PublicationsCorresponds to variant dbSNP:rs750294638EnsemblClinVar.1
Natural variantiVAR_070440206K → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs397518464EnsemblClinVar.1
Natural variantiVAR_015763216V → L in ODDD. 1 Publication1
Natural variantiVAR_059010220S → Y in ODDD. 1 Publication1
Natural variantiVAR_075756227E → D in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs875989815EnsemblClinVar.1
Natural variantiVAR_070441239R → Q in CMDR. 1 PublicationCorresponds to variant dbSNP:rs764670582EnsemblClinVar.1
Natural variantiVAR_014100239R → W in congenital heart malformations. 1 Publication1
Natural variantiVAR_059011251S → T in congenital heart malformations. 1 Publication1
Natural variantiVAR_059012253A → P in congenital heart malformations. 1 Publication1
Natural variantiVAR_015764253A → V1 PublicationCorresponds to variant dbSNP:rs17653265EnsemblClinVar.1
Natural variantiVAR_014101283P → L in congenital heart malformations. 1 Publication1
Natural variantiVAR_014102290T → N in congenital heart malformations. 1 Publication1
Natural variantiVAR_059013326T → A1 Publication1
Natural variantiVAR_059014352E → G in heart malformations. 1 Publication1
Natural variantiVAR_032924362R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Q-376 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs2227885EnsemblClinVar.1
Natural variantiVAR_059015364S → P in heart malformations; shows abnormalities in the regulation of cell-cell communication as compared with cells expressing normal GJA1. 1 Publication1
Natural variantiVAR_059016365S → N in heart malformations. 1 Publication1
Natural variantiVAR_059017373S → G1 Publication1
Natural variantiVAR_032925376R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Q-362 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs104893965EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X52947 mRNA Translation: CAA37122.1
M65188 mRNA Translation: AAA52131.1
AF151980 Genomic DNA Translation: AAD37802.2
CR541660 mRNA Translation: CAG46461.1
AK312324 mRNA Translation: BAG35246.1
AL139098 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48178.1
BC026329 mRNA Translation: AAH26329.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5123.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A35853

NCBI Reference Sequences

More...
RefSeqi
NP_000156.1, NM_000165.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000282561; ENSP00000282561; ENSG00000152661
ENST00000647564; ENSP00000497565; ENSG00000152661
ENST00000649003; ENSP00000497283; ENSG00000152661
ENST00000649132; ENSP00000497788; ENSG00000152661
ENST00000650427; ENSP00000497367; ENSG00000152661

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2697

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2697

UCSC genome browser

More...
UCSCi
uc003pyr.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X52947 mRNA Translation: CAA37122.1
M65188 mRNA Translation: AAA52131.1
AF151980 Genomic DNA Translation: AAD37802.2
CR541660 mRNA Translation: CAG46461.1
AK312324 mRNA Translation: BAG35246.1
AL139098 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48178.1
BC026329 mRNA Translation: AAH26329.1
CCDSiCCDS5123.1
PIRiA35853
RefSeqiNP_000156.1, NM_000165.4

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LL2NMR-A234-259[»]
SMRiP17302
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108964, 68 interactors
IntActiP17302, 25 interactors
MINTiP17302
STRINGi9606.ENSP00000282561

Chemistry databases

DrugBankiDB01136 Carvedilol

PTM databases

iPTMnetiP17302
PhosphoSitePlusiP17302

Polymorphism and mutation databases

BioMutaiGJA1
DMDMi117706

Proteomic databases

EPDiP17302
jPOSTiP17302
MaxQBiP17302
PaxDbiP17302
PeptideAtlasiP17302
PRIDEiP17302
ProteomicsDBi53467
TopDownProteomicsiP17302

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2697
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282561; ENSP00000282561; ENSG00000152661
ENST00000647564; ENSP00000497565; ENSG00000152661
ENST00000649003; ENSP00000497283; ENSG00000152661
ENST00000649132; ENSP00000497788; ENSG00000152661
ENST00000650427; ENSP00000497367; ENSG00000152661
GeneIDi2697
KEGGihsa:2697
UCSCiuc003pyr.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2697
DisGeNETi2697

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GJA1
HGNCiHGNC:4274 GJA1
HPAiCAB010753
HPA035097
HPA047551
HPA069245
MalaCardsiGJA1
MIMi104100 phenotype
121014 gene
164200 phenotype
186100 phenotype
218400 phenotype
234100 phenotype
241550 phenotype
257850 phenotype
600309 phenotype
617525 phenotype
neXtProtiNX_P17302
OpenTargetsiENSG00000152661
Orphaneti1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
1522 Craniometaphyseal dysplasia
317 Erythrokeratodermia variabilis
2248 Hypoplastic left heart syndrome
2710 Oculodentodigital dysplasia
93404 Syndactyly type 3
PharmGKBiPA28685

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF97 Eukaryota
ENOG4110JTW LUCA
GeneTreeiENSGT00960000186643
HOGENOMiHOG000231127
InParanoidiP17302
KOiK07372
OMAiGANVDMH
OrthoDBi519426at2759
PhylomeDBiP17302
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-HSA-190704 Oligomerization of connexins into connexons
R-HSA-190827 Transport of connexins along the secretory pathway
R-HSA-190840 Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
R-HSA-190861 Gap junction assembly
R-HSA-190873 Gap junction degradation
R-HSA-191650 Regulation of gap junction activity
R-HSA-196025 Formation of annular gap junctions
SignaLinkiP17302
SIGNORiP17302

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GJA1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GJA1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2697

Protein Ontology

More...
PROi
PR:P17302

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000152661 Expressed in 236 organ(s), highest expression level in pigmented layer of retina
GenevisibleiP17302 HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
1.20.5.1130, 1 hit
InterProiView protein in InterPro
IPR035091 Alpha_helix_dom_sf
IPR000500 Connexin
IPR002261 Connexin43
IPR013124 Connexin43_C
IPR034634 Connexin_C
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PTHR11984:SF33 PTHR11984:SF33, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PF03508 Connexin43, 1 hit
PRINTSiPR00206 CONNEXIN
PR01132 CONNEXINA1
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
SUPFAMiSSF118220 SSF118220, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCXA1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P17302
Secondary accession number(s): B2R5U9, Q6FHU1, Q9Y5I8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: January 23, 2007
Last modified: June 5, 2019
This is version 232 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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