{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P17302","secondaryAccessions":["B2R5U9","Q6FHU1","Q9Y5I8"],"uniProtkbId":"CXA1_HUMAN","entryAudit":{"firstPublicDate":"1990-08-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2007-01-23","entryVersion":270,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Gap junction alpha-1 protein"}},"alternativeNames":[{"fullName":{"value":"Connexin-43"},"shortNames":[{"value":"Cx43"}]},{"fullName":{"value":"Gap junction 43 kDa heart protein"}}]},"genes":[{"geneName":{"value":"GJA1"},"synonyms":[{"value":"GJAL"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P08050"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P23242"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24077100"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31992625"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40010341"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"11741837"}],"value":"Structural component of the gap junction, a specialized intercellular structure consisting of a cluster of closely packed pairs of transmembrane channels, the connexons, that allow passage of small molecules and electrical signals between neighboring cells (By similarity). Forms homotypic and heterotypic channels gated by transjunctional voltage (By similarity). May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph (Probable). 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 the conductive system of ventricular myocardium and heart morphogenesis (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization (By similarity). Involved in intercellular innate immune signaling (PubMed:24077100, PubMed:31992625, PubMed:40010341). Mediates translocation of 2',3'-cGAMP and 2',5'-oligoadenylates (2-5A) second messengers from virus-infected cells to macrophages and uninfected neighboring cells to propagate and amplify the antiviral immune response (PubMed:24077100, PubMed:31992625, PubMed:40010341)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"2',3'-cGAMP(out) = 2',3'-cGAMP(in)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:66320"},{"database":"ChEBI","id":"CHEBI:143093"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24077100"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31992625"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"5'-triphosphoadenylyl-(2'->5')-adenylyl-(2'->5')-adenosine(out) = 5'-triphosphoadenylyl-(2'->5')-adenylyl-(2'->5')-adenosine(in)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:85019"},{"database":"ChEBI","id":"CHEBI:67143"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40010341"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P08050"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P23242"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12270943"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15181016"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15213231"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16112082"}],"value":"A connexon/hemichannel is composed of a hexamer of connexins (By similarity). Forms functional homotypic gap junctions consisting of identical hemichannels both made of the same connexin type as well as heterotypic gap junctions consisting of two different hemichannels, each containing a different type of connexin (By similarity). Assembles with GJC1 to form heterotypic gap junction channels (By similarity). 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). Interacts with ANK3/ANKG and PKP2 (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q02410","geneName":"APBA1","intActId":"EBI-368690"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q99767","geneName":"APBA2","intActId":"EBI-81711"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q9NP61","geneName":"ARFGAP3","intActId":"EBI-2875816"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q8TAB5","geneName":"C1orf216","intActId":"EBI-747505"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"O43889-2","geneName":"CREB3","intActId":"EBI-625022"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"P48730-2","geneName":"CSNK1D","intActId":"EBI-9087876"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q12959","geneName":"DLG1","intActId":"EBI-357481"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q15700","geneName":"DLG2","intActId":"EBI-80426"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q92796","geneName":"DLG3","intActId":"EBI-80440"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"P78352","geneName":"DLG4","intActId":"EBI-80389"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q02487-1","geneName":"DSC2","intActId":"EBI-6900677"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q68DX3","geneName":"FRMPD2","intActId":"EBI-53993476"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"A4D2P6","geneName":"GRID2IP","intActId":"EBI-15893226"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q9Y3R0","geneName":"GRIP1","intActId":"EBI-5349621"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q9C0E4","geneName":"GRIP2","intActId":"EBI-949557"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q14005","geneName":"IL16","intActId":"EBI-2831580"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q8TBB1","geneName":"LNX1","intActId":"EBI-739832"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q8N448","geneName":"LNX2","intActId":"EBI-2340947"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q96QZ7","geneName":"MAGI1","intActId":"EBI-924464"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q86UL8","geneName":"MAGI2","intActId":"EBI-311035"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"O75970","geneName":"MPDZ","intActId":"EBI-821405"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q86UT5","geneName":"NHERF4","intActId":"EBI-8744528"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q9NZG7","geneName":"NINJ2","intActId":"EBI-10317425"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q8NI35","geneName":"PATJ","intActId":"EBI-724390"},"numberOfExperiments":8,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q5T2W1","geneName":"PDZK1","intActId":"EBI-349819"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q5VZY2","geneName":"PLPP4","intActId":"EBI-10485931"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q14160","geneName":"SCRIB","intActId":"EBI-357345"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q07157","geneName":"TJP1","intActId":"EBI-79553"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q5BJH2-2","geneName":"TMEM128","intActId":"EBI-10694905"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q8N661","geneName":"TMEM86B","intActId":"EBI-2548832"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P17302","intActId":"EBI-1103439"},"interactantTwo":{"uniProtKBAccession":"Q9P202","geneName":"WHRN","intActId":"EBI-310886"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P23242"}],"value":"Localizes at the intercalated disk (ICD) between two adjacent cardiomyocytes and the proper localization at ICD is dependent on TMEM65"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22411987"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25398053"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22411987"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25225338"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25398053"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38375917"}],"value":"Cell junction, gap junction","id":"SL-0124"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P23242"}],"value":"Endoplasmic reticulum","id":"SL-0095"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26604139"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34905516"}],"value":"Cell junction","id":"SL-0038"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11741837"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18662195"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26604139"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34905516"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38375917"}],"value":"Expressed at intercalated disks in the heart (at protein level) (PubMed:11741837, PubMed:18662195, PubMed:38375917). Expressed in the fetal cochlea (PubMed:11741837). Expressed by keratinocytes in the skin (at protein level) (PubMed:26604139)"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P08050"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P23242"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6TYA7"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12270943"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14702389"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15605363"}],"value":"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). Phosphorylation by MAPK1/MAPK3 at Ser-279 and Ser-282 leads to increased ubiquitination and lysosomal degradation (By similarity)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P23242"}],"value":"Ubiquitination results in lysosomal degradation"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22411987"}],"value":"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"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P23242"}],"value":"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"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P23242"}],"value":"Acetylated in the developing cortex; leading to delocalization from the cell membrane"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Oculodentodigital dysplasia","diseaseAccession":"DI-01222","acronym":"ODDD","description":"A 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.","diseaseCrossReference":{"database":"MIM","id":"164200"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16816024"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Oculodentodigital dysplasia, autosomal recessive","diseaseAccession":"DI-01251","acronym":"ODDD-AR","description":"A 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.","diseaseCrossReference":{"database":"MIM","id":"257850"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16816024"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Syndactyly 3","diseaseAccession":"DI-02352","acronym":"SDTY3","description":"A 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.","diseaseCrossReference":{"database":"MIM","id":"186100"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14729836"}]},"note":{"texts":[{"value":"The disease may be caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Hypoplastic left heart syndrome 1","diseaseAccession":"DI-01799","acronym":"HLHS1","description":"A 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.","diseaseCrossReference":{"database":"MIM","id":"241550"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11470490"}]},"note":{"texts":[{"value":"The disease may be caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Hallermann-Streiff syndrome","diseaseAccession":"DI-02798","acronym":"HSS","description":"A 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. Intellectual disability is present in a minority of cases.","diseaseCrossReference":{"database":"MIM","id":"234100"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14974090"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Craniometaphyseal dysplasia, autosomal recessive","diseaseAccession":"DI-03897","acronym":"CMDR","description":"An 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.","diseaseCrossReference":{"database":"MIM","id":"218400"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23951358"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Erythrokeratodermia variabilis et progressiva 3","diseaseAccession":"DI-05019","acronym":"EKVP3","description":"A 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.","diseaseCrossReference":{"database":"MIM","id":"617525"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25398053"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Palmoplantar keratoderma and congenital alopecia 1","diseaseAccession":"DI-04540","acronym":"PPKCA1","description":"A 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.","diseaseCrossReference":{"database":"MIM","id":"104100"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25168385"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the connexin family. Alpha-type (group II) subfamily"}],"commentType":"SIMILARITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"PubMed:7715640 reported a mutation Pro-364 linked to congenital heart diseases. PubMed:8873667 later shown that it is an artifact"}],"commentType":"CAUTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"12457340"}],"value":"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"}],"commentType":"CAUTION"}],"features":[{"type":"Initiator methionine","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"Removed","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P08050"}]},{"type":"Chain","location":{"start":{"value":2,"modifier":"EXACT"},"end":{"value":382,"modifier":"EXACT"}},"description":"Gap junction alpha-1 protein","featureId":"PRO_0000057801"},{"type":"Topological 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